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K505

This test is temporarily unavailable.

6 working days

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Caractéristiques

Breeds

, ,

Gene

Chromosome

C1

Mode of Inheritance

Autosomique dominante

Organ

Specimen

Swab, Blood EDTA, Blood Heparin, Semen, Tissue

Also known as

DBE

Informations générales

This test is temporarily unavailable.At this point the possibility of false-positive results cannot be excluded. We are in contact with the study’s author to verify the reliability of this test before offering it commercially again. For this reason, the test is temporarily unavailable.Dominant Blue Eyes (DBE) in cats are typically associated with a lack of melanin in the iris. It is often due to genetics and is commonly seen in certain breeds. One of the genes involved in this trait is the Paired Box 3 (PAX3) gene. Mutations in the gene can result in white spotting, deafness, pigmentary disturbances in one or two eyes and in some cases also embryonic or fetal lethality. The tested mutation for the Celestial line is characterised by an autosomal dominant inheritance with variable expressivity and incomplete penetrance for both white spotting and blue eyes.

There are multiple mutations known. The variant tested here is found in the Celestial Maine Coon line, Siberian and Celestial cats and is also know as DBE-CEL.

Caractéristiques cliniques

Cats with this mutation might show one or two blue eyes, or particolored eyes, with minimal white spotting. This does not necessarily indicate any underlying health issues. This variant has not been associated with deafness.

Additional Information

Consultation with a researcher involved in the study of the blue-eye mutation in cats confirmed that this test is specific to the Celestial Maine Coon line. The published research references only this particular lineage, and there is currently no scientific evidence supporting the presence of this mutation in the broader Maine Coon population.

Références

Pubmed ID: 38644700

Year published: 2024

Omia ID: 1688

Omia variant ID:

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