cavalier/info-lgs@agrotis.it - CombiBreed France

Muscular Dystrophy (MD) – Cavalier King Charles Spaniel

Muscular Dystrophy (MD) is an X-linked muscular disorder, equivalent to Duchenne Muscular Dystrophy (DMD) in humans. The disorder is severe and ultimately fatal, and causes progressive degradation of the dog’s muscles. It is caused by an X-linked recessive mutation to the DMD gene.

The variant analysed in this test is found in the Cavalier King Charles Spaniel, and is sometimes known as Cavalier King Charles Spaniel Muscular Dystrophy (CKCS-MD).

Macrothrombocytopenia (MTC) – Cavalier King Charles Spaniel

Thrombocytopenia or macrothrombocytopenia (MTC) is a hereditary disorder characterized by a reduced number of blood platelets (thrombocytes), many of which are enlarged. Thrombocytes play an essential role in blood clotting (coagulation). Mutations in the ß1‑tubulin (TUBB1) gene have been identified as the cause of this reduction. Depending on the specific variant, symptoms may range from prolonged bleeding times to an apparently healthy animal.
The variant in this test occurs in the Cavalier King Charles Spaniel and is caused by a recessive mutation in TUBB1. This form is generally considered mild: affected dogs often show low platelet counts and enlarged platelets, but many remain clinically healthy without spontaneous bleeding problems.
A related mutation has been identified in the Norfolk Terrier and Cairn Terrier. This version is regarded as more severe, with affected dogs more likely to show clinical signs such as prolonged bleeding times, petechiae, or bruising.

MCAD Deficiency – Cavalier King Charles Spaniel

Medium-chain acyl-CoA dehydrogenase (MCAD) is an enzyme that helps the body process medium-chain fatty acids, forming a key part of an animal’s metabolism. A recessive mutation to the gene ACADM causes an MCAD deficiency (MCADD). This results in a build-up of medium-chain fatty acids, causing neurological symptoms such as fatigue and seizures. In dogs, MCAD Deficiency is found in the Cavalier King Charles Spaniel.

CombiBreed Cavalier King Charles Spaniel

This Combination Pack is designed to provide you with vital insights into your dog’s genetic health, traits and diversity and includes DNA tests for numerous important diseases and/or traits. In addition, we also calculate the Coefficient of Inbreeding (COI) and the percentage of Heterozygosity of your dog’s DNA. The COI shows the degree of inbreeding of your dog, whereas the Heterozygosity percentage is a measure of your dog’s individual genetic diversity.

Information about individual tests in this package is available in the section ‘Included Tests’ on this page. We accept samples from animals of any age. Normally, the turnaround time of tests performed at our own facilities is 10 working days after receipt of the sample. For outsourced tests, so-called “External lab”, or “External Patent lab”, the turnaround time is at least 20 working days after receipt of your sample. Please note that the mentioned 20 working days is an estimate, as the shipping time to these external laboratories or patent facilities may vary due to unexpected delays.

Some tests included are performed by an external laboratory. CombiBreed takes care of the mediation between you as a customer and the external laboratory. In these cases, CombiBreed cannot be held liable for the behaviour of the client and/or contractor.

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Roan

Roan is a white patterning coat colour trait of intermixed white and coloured hairs in the body while the head, lower legs, mane and tail remain colored. Roan horses are born with the pattern, though it may not be obvious until the foal coat is shed. The white and coloured hairs are evenly mixed in horses that inherit the classic Roan gene, which can differentiate this from several mimic patterns called roaning. Roaning patterns tend to be uneven in the distribution of white hairs and the inheritance of roaning has not been defined. The mutation causing the Roan coat colour has not yet been identified. The Coat Roan test (P659) tests for DNA markers that are associated with Roan coat colour in several breeds, the DNA markers can be used to determine if a horse has the Roan mutation and how many copies. This test detects three variants (alleles), Rn, Rn* and N. The allele Rn is dominant. One or two copies of the Rn allele result in a Roan coat colour. The allele Rn* is very uncommon and not always associated with the Roan coat colour, this allele has only been observed in Tennessee Walking horses and Rocky Mountain horses. The allele N is recessive and does not have an effect on the basic colour.

The Coat Colour Roan test encloses the following results, in this scheme the results of the Coat Colour Roan test are shown in combination with the possible results for the tests that determine the basic Coat Colour (Coat Colour Chestnut and Coat Colour Agouti test):

Result Roan	Result Chestnut + Agouti	Coat Colour	Description
N/N	e/e + A/A, A/a or a/a	Chestnut, Sorrel	Not Roan. The basic colour chestnut/sorrel is not modified unless modified by other colour modifying genes. It can only pass on allele N to its offspring.
N/N	E/E or E/e + A/A or A/a	Bay, Brown	Not Roan. The basic colour bay/brown is not modified unless modified by other colour modifying genes. It can only pass on allele N to its offspring.
N/N	E/E or E/e + a/a	Black	Not Roan. The basic colour black is not modified unless modified by other colour modifying genes. It can only pass on allele N to its offspring.
Rn/N	e/e + A/A, A/a or a/a	Chestnut/sorrel Roan	One copy of the dominant Rn allele. The colour is chestnut/sorrel roan, unless modified by other colour modifying genes. It can pass on either allele N or Rn to its offspring.
Rn/N	E/E or E/e + A/A or A/a	Brown/bay Roan	One copy of the dominant Rn allele. The colour is brown/bay roan, unless modified by other colour modifying genes. It can pass on either allele N or Rn to its offspring.
Rn/N	E/E or E/e + a/a	Black Roan	One copy of the dominant Rn allele. The colour is black roan, unless modified by other colour modifying genes. It can pass on either allele N or Rn to its offspring.
Rn*/N	e/e + A/A, A/a or a/a	Chestnut/sorrel or Chestnut/sorrel Roan	One copy of the uncommon Rn* allele. The colour can be chestnut/sorrel or chestnut/sorrel roan, unless modified by other colour modifying genes. It can pass on either allele N or Rn* to its offspring.
Rn*/N	E/E or E/e + A/A or A/a	Brown/bay or Brown/bay Roan	One copy of the uncommon Rn* allele. The colour can be brown/bay or brown/bay roan, unless modified by other colour modifying genes. It can pass on either allele N or Rn* to its offspring.
Rn*/N	E/E or E/e + a/a	Black or Black Roan	One copy of the uncommon Rn* allele. The colour can be black or black roan, unless modified by other colour modifying genes. It can pass on either allele N or Rn* to its offspring.
Rn/Rn	e/e + A/A, A/a or a/a	Chestnut/sorrel Roan	Two copies of the dominant Rn allele. The colour is chestnut/sorrel roan, unless modified by other colour modifying genes. It can only pass on allele Rn to its offspring.
Rn/Rn	E/E or E/e + A/A or A/a	Brown/bay Roan	Two copies of the dominant Rn allele. The colour is brown/bay roan, unless modified by other colour modifying genes. It can only pass on allele Rn to its offspring.
Rn/Rn	E/E or E/e + a/a	Black Roan	Two copies of the dominant Rn allele. The colour is black roan, unless modified by other colour modifying genes. It can only pass on allele Rn to its offspring.
Rn/Rn*	e/e + A/A, A/a or a/a	Chestnut/sorrel Roan	One copy of the dominant Rn allele and one copy of the uncommon Rn* allele. The colour is chestnut/sorrel roan, unless modified by other colour modifying genes. It can pass on either allele Rn or Rn* to its offspring.
Rn/Rn*	E/E or E/e + A/A or A/a	Brown/bay Roan	One copy of the dominant Rn allele and one copy of the uncommon Rn* allele. The colour is brown/bay roan, unless modified by other colour modifying genes. It can pass on either allele Rn or Rn* to its offspring.
Rn/Rn*	E/E or E/e + a/a	Black Roan	One copy of the dominant Rn allele and one copy of the uncommon Rn* allele. The colour is black roan, unless modified by other colour modifying genes. It can pass on either allele Rn or Rn* to its offspring.
Rn/Rn	e/e + A/A, A/a or a/a	Chestnut/sorrel or Chestnut/sorrel Roan	Two copies of the uncommon Rn* allele. The colour can be chestnut/sorrel or chestnut/sorrel roan, unless modified by other colour modifying genes. It can only pass on allele Rn* to its offspring.
Rn/Rn	E/E or E/e + A/A or A/a	Brown/bay or Brown/bay Roan	Two copies of the uncommon Rn* allele. The colour can be brown/bay or brown/bay roan, unless modified by other colour modifying genes. It can only pass on allele Rn* to its offspring.
Rn/Rn	E/E or E/e + a/a	Black or Black Roan	Two copies of the uncommon Rn* allele. The colour can be black or black roan, unless modified by other colour modifying genes. It can only pass on allele Rn* to its offspring.

Dun dilution

The Dun dilution gene lightens the coat colour of the horse by lightening the body colour, leaving the head, lower legs, mane and tail undiluted. Dun is also typically characterized by “primitive markings”, allmost all dun horses possess at least the dorsal stripe, but the presence of the other primitive markings varies. Other common markings may include horizontal striping on the legs, transverse striping across the shoulders, and lighter guard hairs along the edges of a dark mane and tail. Dun diluted coat colour with primitive markings is considered the “wild-type” colour and is found in wild equids such as przewalski horses. Dun dilutes both red and black pigment, and the resulting colors range from apricot, golden, dark gray, olive and many more subtle variations. A horse can also carry mutations for other modifying genes which can further affect its coat colour. The Coat Colour Dun dilution test (P660) tests for the genetic status of the TBX3 gene. This gene has three variants (alleles); allele D is dominant over the alleles nd1 and nd2; allele nd1 is dominant over nd2. The dominant allele D results in Dun dilution with primitive markings. Allele nd1 does not dilute the coat colour of the horse, primitive markings are present but the expression is variable. Allele nd2 does not have an effect on the basic colour.

The Coat Colour Dun dilution test encloses the following results, in this scheme the results of the Coat Colour Dun dilution test are shown in combination with the possible results for the tests that determine the basic Coat Colour (Coat Colour Chestnut and Coat Colour Agouti test):

Result Dun dilution	Result Chestnut + Agouti	Coat Colour	Description
nd2/nd2	e/e + A/A, A/a or a/a	Chestnut, Sorrel. No primitive markings	Two copies of the nd2 allele. Coat colour is not diluted and primitive markings are absent. The basic colour chestnut/sorrel is not modified unless modified by other colour modifying genes. It can only pass on allele nd2 to its offspring.
nd2/nd2	E/E or E/e + A/A or A/a	Bay, Brown. No primitive markings	Two copies of the nd2 allele. Coat colour is not diluted and primitive markings are absent. The basic colour bay/brown is not modified unless modified by other colour modifying genes. It can only pass on allele nd2 to its offspring.
nd2/nd2	E/E or E/e + a/a	Black. No primitive markings	Two copies of the nd2 allele. Coat colour is not diluted and primitive markings are absent. The basic colour black is not modified unless modified by other colour modifying genes. It can only pass on allele nd2 to its offspring.
nd1/nd2	e/e + A/A, A/a or a/a	Chestnut, Sorrel. Primitive markings may be present	One copy of the nd1 allele and one copy of the nd2 allele. The nd1 allele is dominant over the nd2 allele. Coat colour is not diluted. Primitive markings may be present. The colour can be further modified by other colour modifying genes. It can pass on either allele nd1 or nd2 to its offspring.
nd1/nd2	E/E or E/e + A/A or A/a	Bay, Brown. Primitive markings may be present	One copy of the nd1 allele and one copy of the nd2 allele. The nd1 allele is dominant over the nd2 allele. Coat colour is not diluted. Primitive markings may be present. The colour can be further modified by other colour modifying genes. It can pass on either allele nd1 or nd2 to its offspring.
nd1/nd2	E/E or E/e + a/a	Black. Primitive markings may be present	One copy of the nd1 allele and one copy of the nd2 allele. The nd1 allele is dominant over the nd2 allele. Coat colour is not diluted. Primitive markings may be present. The colour can be further modified by other colour modifying genes. It can pass on either allele nd1 or nd2 to its offspring.
nd1/nd1	e/e + A/A, A/a or a/a	Chestnut, Sorrel. Primitive markings may be present	Two copies of the nd1 allele. Coat colour is not diluted. Primitive markings may be present. The colour can be further modified by other colour modifying genes. It can only pass on allele nd1 to its offspring.
nd1/nd1	E/E or E/e + A/A or A/a	Bay, Brown. Primitive markings may be present	Two copies of the nd1 allele. Coat colour is not diluted. Primitive markings may be present. The colour can be further modified by other colour modifying genes. It can only pass on allele nd1 to its offspring.
nd1/nd1	E/E or E/e + a/a	Black. Primitive markings may be present	Two copies of the nd1 allele. Coat colour is not diluted. Primitive markings may be present. The colour can be further modified by other colour modifying genes. It can only pass on allele nd1 to its offspring.
D/nd2	e/e + A/A, A/a or a/a	Red dun. With primitive markings	One copy of the dominant D allele and one copy of the nd2 allele. Coat colour is dun-diluted with primitive markings. The colour can be further modified by other colour modifying genes. It can pass on either allele D or nd2 to its offspring.
D/nd2	E/E or E/e + A/A or A/a	Bay dun. With primitive markings	One copy of the dominant D allele and one copy of the nd2 allele. Coat colour is dun-diluted with primitive markings. The colour can be further modified by other colour modifying genes. It can pass on either allele D or nd2 to its offspring.
D/nd2	E/E or E/e + a/a	Blue dun. With primitive markings	One copy of the dominant D allele and one copy of the nd2 allele. Coat colour is dun-diluted with primitive markings. The colour can be further modified by other colour modifying genes. It can pass on either allele D or nd2 to its offspring.
D/nd1	e/e + A/A, A/a or a/a	Red dun. With primitive markings	One copy of the dominant D allele and one copy of the nd1 allele. Coat colour is dun-diluted with primitive markings. The colour can be further modified by other colour modifying genes. It can pass on either allele D or nd1 to its offspring.
D/nd1	E/E or E/e + A/A or A/a	Bay dun. With primitive markings	One copy of the dominant D allele and one copy of the nd1 allele. Coat colour is dun-diluted with primitive markings. The colour can be further modified by other colour modifying genes. It can pass on either allele D or nd1 to its offspring.
D/nd1	E/E or E/e + a/a	Blue dun. With primitive markings	One copy of the dominant D allele and one copy of the nd1 allele. Coat colour is dun-diluted with primitive markings. The colour can be further modified by other colour modifying genes. It can pass on either allele D or nd1 to its offspring.
D/D	e/e + A/A, A/a or a/a	Red dun. With primitive markings	Two copies of the dominant D allele. Coat colour is dun-diluted with primitive markings. The colour can be further modified by other colour modifying genes. It can only pass on allele D to its offspring.
D/D	E/E or E/e + A/A or A/a	Bay, Classic, Zebra dun. With primitive markings	Two copies of the dominant D allele. Coat colour is dun-diluted with primitive markings. The colour can be further modified by other colour modifying genes. It can only pass on allele D to its offspring.
D/D	E/E or E/e + a/a	Blue, Mouse dun. With primitive markings	Two copies of the dominant D allele. Coat colour is dun-diluted with primitive markings. The colour can be further modified by other colour modifying genes. It can only pass on allele D to its offspring.

Primary Immunodeficiency Type 2 (PIPS2, CARMIL2-related) – CKCS

Primary Immunodeficiency Type 2, also known as PIPS2, is an immunodeficiency disorder in dogs often associated with the fungus Pneumocystis pneumonia (PCP). For this reason, it is also referred to as Primary Immunodeficiency with Pneumocystis Susceptibility.

The disorder is caused by an autosomal recessive mutation in the CARMIL2 gene. Affected dogs are unable to produce a protein critical for proper immune function, making them highly susceptible to respiratory infections. This variant of the disorder is specifically found in Cavalier King Charles Spaniels.

Episodic Falling Disease – EFS (External Patent Lab)

Episodic Falling Syndrome (EFS), also called Episodic Hypertonicity, Hyperekplexia or Paroxysmal Exercise-Induced Dystonia, is a neurological disorder found in the Cavalier King Charles Spaniel. The disease causes episodes of muscle stiffness that can temporarily immobilize affected dogs. It is caused by a recessive mutation to the gene BCAN.

Episodic Falling Disease – EFS (External Lab)

Myxomatous Valvular Degeneration (MMVD, 3 variants)

Myxomatous Valvular Degeneration (MMVD; also known as Mitral Valve Disease) is a common heart condition in older, small breed dogs (under 20kg). The exact cause is not fully understood, though an inherited or genetic component is suspected. Mutations in the NEBL gene (Nebulin-like proteins; nebulette gene) are potentially contributing and associated with the condition. This gene is involved in the structure and function of cardiac muscle cells and is therefore involved in muscle fiber stability.
In MMVD, the mitral valve weakens, causing improper closure and blood to flow backward into the atrium (regurgitation). This leads to heart failure over time. The disease occurs more often in males and breeds like Cavalier King Charles Spaniels and Dachshunds. Three mutations are tested in this package. Dogs carrying one or more risk alleles at these NEBL loci have been shown to be significantly more likely to develop MMVD and to develop it earlier in life (up to three years earlier in homozygous individuals).

Dry Eye Curly Coat Syndrome (CCS, DE-CC)

Congenital Keratoconjunctivitis Sicca and Ichthyosiform Dermatosis (CKCSID), colloquially known as ‘Dry Eye Curly Coat Syndrome’, is a disorder found in the Cavalier King Charles Spaniel. There are two elements to CKCSID: a severe form of dry eye (Keratoconjunctivitis Sicca, KCS), and a skin disorder. The disease is caused by a recessive mutation to the gene FAM83H.

Xanthinuria, type 2 – Spaniel variant

Xanthinuria is a metabolic disorder that causes an excess of xanthine in the urine, which leads to the formation of urinary stones and related complications. Type II xanthinuria is caused by a recessive mutation to the gene MOCOS. The variant of the disorder analysed in this test is found in the Cavalier King Charles Spaniel and English Cocker Spaniel. Related variants are also found in the Dachshund and Manchester Terrier.

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We use personal data to keep you informed about our products and services, including new offerings, special promotions, and campaigns via newsletters or other channels (e.g., social media). This also includes providing information about conferences, lectures, presentations, workshops, or other events. Additionally, we use your contact details to update you on the progress of your tests or to notify you of any unforeseen delays that may affect the agreed delivery time.

Legal basis: Consent where required (e.g., for newsletters, with the option to unsubscribe), and legitimate interest for other communication purposes.

Job applications

Job seekers can submit personal data, for example, via our website. These data are received by our HR department and used to contact you and to manage the application process. The data are retained for a maximum of four weeks after the end of the application process, and, with your consent, for up to one year. If your application is successful and you join our organization, your data will be included in your personnel file.

Legal basis: Legitimate interest (during and immediately after the application process), consent (after the application process), and legal obligation.

Visitor registration and camera surveillance
For the safety of individuals, our buildings, and information, we collect visitor data. Security cameras are installed in certain areas of our premises, buildings, and laboratories.

Legal basis: Legitimate interest, as it is necessary to protect our property and employees.

Balancing of interests in the case of legitimate interest

When we process personal data based on a legitimate interest, we carefully balance our interests against your privacy rights. In doing so, we consider the nature of the data, the potential impact on your rights, and your reasonable expectations. We only process personal data on this basis if it is necessary for our business operations or other legitimate interests, the processing does not disproportionately affect your rights, and appropriate safeguards are in place to protect your privacy.

To whom do we disclose personal data?

We only share personal data with third parties (including our subsidiaries and sister companies) when it is necessary for our services or business operations, or if we are legally required to do so.

Examples of such third parties include:

Our distributors
Breed registries and breed associations
Public Authorities
Supervisory authorities, tax authorities, and/or law enforcement agencies (only when legally required or with your prior consent)
Veterinary practices
Breeding farms and genetic improvement companies
IT service providers
Logistics service providers
Banks/payment service providers

Our processors always act according to our instructions, and we ensure that appropriate security measures are in place.

Outside the EU?

We do not transfer personal data to countries outside the European Economic Area (EEA) ourselves. If a third party we engage does transfer data outside the EEA as part of its services for us, this is done only with our prior approval and provided that appropriate safeguards are in place.

How do we protect personal data?

We take the security of personal data seriously. Therefore, we take technical and organizational measures to prevent loss, unauthorized access, or misuse of personal data. These measures include:

Use of secure servers and firewalls
Encryption of data (e.g., SSL traffic)
Physical access controls to our systems
Use of antivirus software

How long do we retain personal data?

We do not retain personal data for longer than necessary for the purposes described above. In determining retention periods, we take into account:

The likelihood that the personal data will still be needed for the purpose for which it was collected
Statutory retention periods
Our legitimate interests

Once personal data is no longer needed, it will be deleted or anonymised.

Your rights

You have the following rights regarding your personal data:

Right of access: you can request access to your personal data.
Right of rectification: you can request corrections to your data.
Right to erasure (deletion); you can request deletion of your data; however, we may be unable to delete certain data if it is still required for legal or business purposes.
Right to restriction of processing: you can request limitations on how your data are processed.
Right to object to processing: you can object to certain processing of your data.
Right to data portability: you can request a copy of your data in a structured, commonly used, machine-readable format and transmit those data to another organization.

To exercise your rights, please send an email to info@vhlgenetics.com or a letter to: VHLGenetics, Postbus 408, 6708 PW Wageningen, The Netherlands

We will respond to your request as soon as possible.

Questions, comments, or complaints

If you have any questions, comments, or complaints about how we handle personal data, please contact us using the contact details provided above.

If we are unable to resolve the matter together, you have the right to file a complaint with the Dutch Data Protection Authority (Autoriteit Persoonsgegevens).

For more information, please visit the website of the Dutch Data Protection Authority and consult the section on submitting a tip or complaint.

Changes

We reserve the right to amend this Privacy Statement at any time. The most recent version will always be published on our website: www.VHLGenetics.nl.

This Privacy Statement was last updated on 6 March 2026.

Sabino 1

Sabino is a general description for a group of similar white spotting patterns. The sabino pattern is described as irregular spotting usually on the legs, belly and face, often with roaning around the edges of the white markings. A mutation has been discovered that produces one type of sabino pattern, it has been named Sabino1 as it is not present in all sabino-patterned horses. More mutations will probably exist that account for other sabino patterns. The Coat Colour Sabino 1 test (P785) tests for the genetic status of the KIT gene. This gene has two variants (alleles). The allele SB1 is semi-dominant. One copy of the SB1 allele results in horses with broken Sabino markings and possibly only a small amount of white. Two copies of the SB1 allele result in at least 90% white, also referred to as Sabino-white. The allele N is recessive and does not have an effect on the basic colour.

The Coat Colour Sabino 1 test encloses the following results, in this scheme the results of the Coat Colour Sabino 1 test are shown in combination with the possible results for the tests that determine the basic Coat Colour (Coat Colour Chestnut and Coat Colour Agouti test):

Result Sabino 1	Result Chestnut + Agouti	Coat Colour	Description
N/N	e/e + A/A, A/a or a/a	Chestnut, Sorrel	Not Sabino 1. The basic colour chestnut/sorrel is not modified unless modified by other colour modifying genes. It can only pass on allele N to its offspring.
N/N	E/E or E/e + A/A or A/a	Bay, Brown	Not Sabino 1. The basic colour bay/brown is not modified unless modified by other colour modifying genes. It can only pass on allele N to its offspring.
N/N	E/E or E/e + a/a	Black	Not Sabino 1. The basic colour is not black modified unless modified by other colour modifying genes. It can only pass on allele N to its offspring.
N/SB1	e/e + A/A, A/a or a/a	Chestnut/sorrel sabino	Sabino 1 pattern. One copy of the SB1 allele. Horse typically may have 2 or more white legs, blaze, spots or roaning in the midsection and jagged margins around white areas unless modified by other colour modifying genes. It can pass on either allele N or SB1 to its offspring.
N/SB1	E/E or E/e + A/A or A/a	Brown/bay sabino	Sabino 1 pattern. One copy of the SB1 allele. Horse typically may have 2 or more white legs, blaze, spots or roaning in the midsection and jagged margins around white areas unless modified by other colour modifying genes. It can pass on either allele N or SB1 to its offspring.
N/SB1	E/E or E/e + a/a	Black sabino	Sabino 1 pattern. One copy of the SB1 allele. Horse typically may have 2 or more white legs, blaze, spots or roaning in the midsection and jagged margins around white areas unless modified by other colour modifying genes. It can pass on either allele N or SB1 to its offspring.
SB1/SB1	e/e + A/A, A/a or a/a	Chestnut/sorrel sabino	Sabino 1 pattern. Two copies of the SB1 allele. Horse is complete or nearly complete white unless modified by other colour modifying genes. It can only pass on allele SB1 to its offspring.
SB1/SB1	E/E or E/e + A/A or A/a	Brown/bay sabino	Sabino 1 pattern. Two copies of the SB1 allele. Horse is complete or nearly complete white unless modified by other colour modifying genes. It can only pass on allele SB1 to its offspring.
SB1/SB1	E/E or E/e + a/a	Black sabino	Sabino 1 pattern. Two copies of the SB1 allele. Horse is complete or nearly complete white unless modified by other colour modifying genes. It can only pass on allele SB1 to its offspring.

Dominant White 3

White patterning in horses is known as Dominant White or White. Dominant White patterns are variable, ranging from minimal Sabino-like spotting to all-white horses. The eye colour of Dominant White horses is brown. There are about 20 different mutations identified that are associated with white patterns, all mutations are found in the KIT gene. Except for W20, most of the known Dominant White mutations arose recently and are restricted to specific lines within breeds. The Coat Colour Dominant White 3 test (P592) tests for the mutation known as W20 in the KIT gene. This test detects two variants (alleles). The allele W20 is dominant. One or two copies of the W20 allele have a subtle effect on the amount of white expressed. It appears to increase the expression of white in combination with other white pattern genes. The allele N is recessive and does not have an effect on the basic colour.

The Coat Colour Dominant White 3 test encloses the following results, in this scheme the results of the Coat Colour Dominant White 3 test are shown in combination with the possible results for the tests that determine the basic Coat Colour (Coat Colour Chestnut and Coat Colour Agouti test):

Result Dominant White 3	Result Chestnut + Agouti	Coat Colour	Description
N/N	e/e + A/A, A/a or a/a	Chestnut, Sorrel	Not Dominant White. The basic colour chestnut/sorrel is not modified unless modified by other colour modifying genes. It can only pass on allele N to its offspring.
N/N	E/E or E/e + A/A or A/a	Bay, Brown	Not Dominant White. The basic colour bay/brown is not modified unless modified by other colour modifying genes. It can only pass on allele N to its offspring.
N/N	E/E or E/e + a/a	Black	Not Dominant White. The basic colour black is not modified unless modified by other colour modifying genes. It can only pass on allele N to its offspring.
N/W20	e/e + A/A, A/a or a/a	Chestnut/sorrel with Dominant White pattern	Dominant White pattern. One copy of the W20 allele. The horse will display some degree of white spotting but the specific pattern cannot be predicted, unless modified by other colour modifying genes. It can pass on either allele N or W20 to its offspring.
N/W20	E/E or E/e + A/A or A/a	Brown/bay with Dominant White pattern	Dominant White pattern. One copy of the W20 allele. The horse will display some degree of white spotting but the specific pattern cannot be predicted, unless modified by other colour modifying genes. It can pass on either allele N or W20 to its offspring.
N/W20	E/E or E/e + a/a	Black with Dominant White pattern	Dominant White pattern. One copy of the W20 allele. The horse will display some degree of white spotting but the specific pattern cannot be predicted, unless modified by other colour modifying genes. It can pass on either allele N or W20 to its offspring.
W20/W20	e/e + A/A, A/a or a/a	Chestnut/sorrel with Dominant White pattern	Dominant White pattern. Two copies of the W20 allele. The horse will display some degree of white spotting but the specific pattern cannot be predicted, unless modified by other colour modifying genes. It can only pass on allele W20 to its offspring.
W20/W20	E/E or E/e + A/A or A/a	Brown/bay with Dominant White pattern	Dominant White pattern. Two copies of the W20 allele. The horse will display some degree of white spotting but the specific pattern cannot be predicted, unless modified by other colour modifying genes. It can only pass on allele W20 to its offspring.
W20/W20	E/E or E/e + a/a	Black with Dominant White pattern	Dominant White pattern. Two copies of the W20 allele. The horse will display some degree of white spotting but the specific pattern cannot be predicted, unless modified by other colour modifying genes. It can only pass on allele W20 to its offspring.

Tobiano

The Tobiano coat pattern usually involves white on all four legs below the hocks and knees and rounded white spots on the body with sharp, clean edges. The head is dark, with white markings like those of a solid colored horse. The white on the body will generally cross the top-line of the horse. The skin underlying the white spots is pink and under the colored areas it is black. The eyes are usually brown, but one or both may be blue or partially blue. The tail can be two colors, a characteristic seldom seen in horses that are not tobiano. A horse can also carry mutations for other modifying genes which can further affect its coat colour.

The Coat Colour Tobiano test (P903) tests for a genetic factor that affects the function of the KIT gene. This gene has two variants (alleles). The dominant allele TO results in the Tobiano pattern and the recessive allele N does not have an effect on the basic colour.

The Coat Colour Tobiano test encloses the following results, in this scheme the results of the Coat Colour Tobiano test are shown in combination with the possible results for the tests that determine the basic Coat Colour (Coat Colour Chestnut and Coat Colour Agouti test):

Result Tobiano	Result Chestnut + Agouti	Coat Colour	Description
N/N	e/e + A/A, A/a or a/a	Chestnut, Sorrel	Not Tobiano. The basic colour chestnut/sorrel is not modified unless modified by other colour modifying genes. It can only pass on allele N to its offspring.
N/N	E/E or E/e + A/A or A/a	Bay, Brown	Not Tobiano. The basic colour bay/brown is not modified unless modified by other colour modifying genes. It can only pass on allele N to its offspring.
N/N	E/E or E/e + a/a	Black	Not Tobiano. The basic colour black is not modified unless modified by other colour modifying genes. It can only pass on allele N to its offspring.
N/TO	e/e + A/A, A/a or a/a	Chestnut/sorrel tobiano	One copy of the dominant TO allele. The colour is chestnut/sorrel tobiano unless modified by other colour modifying genes. It can pass on either allele N or TO to its offspring.
N/TO	E/E or E/e + A/A or A/a	Bay/brown tobiano	One copy of the dominant TO allele. The colour is bay/brown tobiano unless modified by other colour modifying genes. It can pass on either allele N or TO to its offspring.
N/TO	E/E or E/e + a/a	Black tobiano	One copy of the dominant TO allele. The colour is black tobiano unless modified by other colour modifying genes. It can pass on either allele N or TO to its offspring.
TO/TO	e/e + A/A, A/a or a/a	Chestnut/sorrel tobiano	Two copies of the dominant TO allele. The colour is chestnut/sorrel tobiano unless modified by other colour modifying genes. It can only pass on allele TO to its offspring.
TO/TO	E/E or E/e + A/A or A/a	Bay/brown tobiano	Two copies of the dominant TO allele. The colour is bay/brown tobiano unless modified by other colour modifying genes. It can only pass on allele TO to its offspring.
TO/TO	E/E or E/e + a/a	Black tobiano	Two copies of the dominant TO allele. The colour is black tobiano unless modified by other colour modifying genes. It can only pass on allele TO to its offspring.

Cream dilution

The cream dilution gene has an effect on both red and black pigment and dilutes the basic coat colour to lighter coat shades. In several breeds this is considered a desirable trait. The Cream dilution gene is responsible for the palomino, buckskin, smoky black, cremello, perlino and smoky cream coat colours. A horse can also carry mutations for other modifying genes which can further affect its coat colour. The Coat Colour Cream dilution test (P713) tests for the genetic status of the MATP gene. The MATP gene has two variants (alleles). The allele Cr is semi-dominant. One copy of the Cr allele dilutes the coat colour with a single dose, resulting in palomino, buckskin or smoky black. Two copies of the Cr allele dilute the coat colour with a double dose into cremello, perlino or smoky cream. The effect on black pigment might be very subtle. Horses with two copies of the Cr allele are also called “double-dilutes” or “blue-eyed cream” and they share a number of characteristics. The eyes are pale blue, paler than the unpigmented blue eyes associated with white color or white markings, and the skin is rosy-pink. The allele N is recessive and does not have an effect on the basic colour.

The Coat Colour Cream dilution test encloses the following results, in this scheme the results of the Coat Colour Cream dilution test are shown in combination with the possible results for the tests that determine the basic Coat Colour (Coat Colour Chestnut and Coat Colour Agouti test):

Result Cream dilution	Result Chestnut + Agouti	Coat Colour	Description
N/N	e/e + A/A, A/a or a/a	Chestnut, Sorrel	Non-dilute. The basic colour is chestnut or sorrel unless modified by other colour modifying genes. It can only pass on allele N to its offspring.
N/N	E/E or E/e + A/A or A/a	Bay, Brown	Non-dilute. The basic colour is bay or brown unless modified by other colour modifying genes. It can only pass on allele N to its offspring.
N/N	E/E or E/e + a/a	Black	Non-dilute. The basic colour is black unless modified by other colour modifying genes. It can only pass on allele N to its offspring.
N/Cr	e/e + A/A, A/a or a/a	Palomino	Heterozygous dilute, one copy of the Cr allele. The basic coat colour chestnut/sorrel is diluted to palomino. These colours can be further modified by other colour modifying genes. It can pass on either allele N or Cr to its offspring.
N/Cr	E/E or E/e + A/A or A/a	Buckskin	Heterozygous dilute, one copy of the Cr allele. The basic coat colour bay/brown is diluted to buckskin. These colours can be further modified by other colour modifying genes. It can pass on either allele N or Cr to its offspring.
N/Cr	E/E or E/e + a/a	Smoky Black	Heterozygous dilute, one copy of the Cr allele. The basic coat colour black is diluted to Smoky Black. These colours can be further modified by other colour modifying genes. It can pass on either allele N or Cr to its offspring.
Cr/Cr	e/e + A/A, A/a or a/a	Cremello	Double dilute, two copies of the Cr allele. The basic coat colour chestnut/sorrel is diluted to Cremello. These colours can be further modified by other colour modifying genes. It can only pass on allele Cr to its offspring.
Cr/Cr	E/E or E/e + A/A or A/a	Perlino	Double dilute, two copies of the Cr allele. The basic coat colour bay/brown is diluted to Perlino. These colours can be further modified by other colour modifying genes. It can only pass on allele Cr to its offspring.
Cr/Cr	E/E or E/e + a/a	Smoky Cream	Double dilute, two copies of the Cr allele. The basic coat colour black is diluted to Smoky Cream. These colours can be further modified by other colour modifying genes. It can only pass on allele Cr to its offspring.

Dominant White 1

White patterning in horses is known as Dominant White or White. Dominant White patterns are variable, ranging from minimal Sabino-like spotting to all-white horses. The eye colour of Dominant White horses is brown. There are about 20 different mutations identified that are associated with white patterns, all mutations are found in the KIT gene. Except for W20, most of the known Dominant White mutations arose recently and are restricted to specific lines within breeds. The Coat Colour Dominant White 1 test (P591) tests for the mutation known as W18 in the KIT gene. This test detects two variants (alleles). The allele W18 is dominant. One or two copies of the W18 allele result in horses that display some degree of white spotting but the specific pattern cannot be predicted. The allele N is recessive and does not have an effect on the basic colour.

The Coat Colour Dominant White 1 test encloses the following results, in this scheme the results of the Coat Colour Dominant White 1 test are shown in combination with the possible results for the tests that determine the basic Coat Colour (Coat Colour Chestnut and Coat Colour Agouti test):

Result Dominant White 1	Result Chestnut + Agouti	Coat Colour	Description
N/N	e/e + A/A, A/a or a/a	Chestnut, Sorrel	Not Dominant White. The basic colour chestnut/sorrel is not modified unless modified by other colour modifying genes. It can only pass on allele N to its offspring.
N/N	E/E or E/e + A/A or A/a	Bay, Brown	Not Dominant White. The basic colour bay/brown is not modified unless modified by other colour modifying genes. It can only pass on allele N to its offspring.
N/N	E/E or E/e + a/a	Black	Not Dominant White. The basic colour black is not modified unless modified by other colour modifying genes. It can only pass on allele N to its offspring.
N/W18	e/e + A/A, A/a or a/a	Chestnut/sorrel with Dominant White pattern	Dominant White pattern. One copy of the W18 allele. The horse will display some degree of white spotting but the specific pattern cannot be predicted, unless modified by other colour modifying genes. It can pass on either allele N or W18 to its offspring.
N/W18	E/E or E/e + A/A or A/a	Brown/bay with Dominant White pattern	Dominant White pattern. One copy of the W18 allele. The horse will display some degree of white spotting but the specific pattern cannot be predicted, unless modified by other colour modifying genes. It can pass on either allele N or W18 to its offspring.
N/W18	E/E or E/e + a/a	Black with Dominant White pattern	Dominant White pattern. One copy of the W18 allele. The horse will display some degree of white spotting but the specific pattern cannot be predicted, unless modified by other colour modifying genes. It can pass on either allele N or W18 to its offspring.
W18/W18	e/e + A/A, A/a or a/a	Chestnut/sorrel with Dominant White pattern	Dominant White pattern. Two copies of the W18 allele. The horse will display some degree of white spotting but the specific pattern cannot be predicted, unless modified by other colour modifying genes. It can only pass on allele W18 to its offspring.
W18/W18	E/E or E/e + A/A or A/a	Brown/bay with Dominant White pattern	Dominant White pattern. Two copies of the W18 allele. The horse will display some degree of white spotting but the specific pattern cannot be predicted, unless modified by other colour modifying genes. It can only pass on allele W18 to its offspring.
W18/W18	E/E or E/e + a/a	Black with Dominant White pattern	Dominant White pattern. Two copies of the W18 allele. The horse will display some degree of white spotting but the specific pattern cannot be predicted, unless modified by other colour modifying genes. It can only pass on allele W18 to its offspring.

Champagne dilution

The Champagne dilution gene lightens the coat colour of the horse by diluting the pigment. The skin of Champagne-diluted horses is pinkish/lavender toned and becomes speckled with age; the speckling is particularly noticeable around the eye, muzzle, under the tail, udder and sheath. The eye colour is blue-green at birth and darkens to amber as the horse ages. Champagne has the following effects on the basic coat colours of horses:

Chestnut/Sorrel -> Gold champagne: a gold body color and often a flaxen mane and tail. Gold champagne horses are visually similar to palomino horses.

Bay/Brown -> Amber champagne: a tan body color with brown points (sometimes referred to as amber Buckskin).

Black -> Classic champagne: a darker tan body with brown points.

A horse can also carry mutations for other modifying genes which can further affect its coat colour. The Coat Colour Champagne dilution test (P853) tests for the genetic status of the SLC36A1 gene. This gene has two variants (alleles). The dominant allele Ch results in the dilution and the recessive allele N does not have an effect on the basic colour.

The Coat Colour Champagne dilution test encloses the following results, in this scheme the results of the Coat Colour Champagne dilution test are shown in combination with the possible results for the tests that determine the basic Coat Colour (Coat Colour Chestnut and Coat Colour Agouti test):

Result Champagne dilution	Result Chestnut + Agouti	Coat Colour	Description
N/N	e/e + A/A, A/a or a/a	Chestnut, Sorrel	Non-dilute. The basic colour chestnut/sorrel is not modified unless modified by other colour modifying genes. It can only pass on allele N to its offspring.
N/N	E/E or E/e + A/A or A/a	Bay, Brown	Non-dilute. The basic colour bay/brown is not modified unless modified by other colour modifying genes. It can only pass on allele N to its offspring.
N/N	E/E or E/e + a/a	Black	Non-dilute. The basic colour black is not modified unless modified by other colour modifying genes. It can only pass on allele N to its offspring.
N/Ch	e/e + A/A, A/a or a/a	Gold Champagne	One copy of the dominant Ch allele. The basic colour chestnut/sorrel is diluted to gold champagne unless modified by other colour modifying genes. It can pass on either allele N or Ch to its offspring.
N/Ch	E/E or E/e + A/A or A/a	Amber Champagne	One copy of the dominant Ch allele. The basic colour bay/brown is diluted to amber champagne unless modified by other colour modifying genes. It can pass on either allele N or Ch to its offspring.
N/Ch	E/E or E/e + a/a	Classic Champagne	One copy of the dominant Ch allele. The basic colour black is diluted to classic champagne unless modified by other colour modifying genes. It can pass on either allele N or Ch to its offspring.
Ch/Ch	e/e + A/A, A/a or a/a	Gold Champagne	Two copies of the dominant Ch allele. The basic colour chestnut/sorrel is diluted to Gold Champagne unless modified by other colour modifying genes. It can only pass on allele Ch to its offspring.
Ch/Ch	E/E or E/e + A/A or A/a	Amber Champagne	Two copies of the dominant Ch allele. The basic colour bay/brown is diluted to amber champagne unless modified by other colour modifying genes. It can only pass on allele Ch to its offspring.
Ch/Ch	E/E or E/e + a/a	Classic Champagne	Two copies of the dominant Ch allele. The basic colour black is diluted to classic champagne unless modified by other colour modifying genes. It can only pass on allele Ch to its offspring.

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