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Achromatopsia (sometimes referred to as Cone Degeneration or Hemeralopia) is an eye disorder that can cause day blindness, sensitivity to light and a loss of colour vision.
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Caractéristiques
| Breeds | |
|---|---|
| Gene | |
| Chromosome | 29 |
| Mutation | c.784G>A |
| Mode of Inheritance | Autosomique récessif |
| Organ | |
| Specimen | Écouvillonnage, sanguin EDTA, sanguine hépariné, sperme, tissu |
| Also known as | cd^GSPT |
Informations générales
Achromatopsia (sometimes referred to as Cone Degeneration or Hemeralopia) is an eye disorder that can cause day blindness, sensitivity to light and a loss of colour vision. This particular form of the disorder is known as Achromatopsia-3, and is caused by a recessive mutation to the gene CNGB3. The variant analysed in this test occurs in the German Shorthaired Pointer. A related variant has been found in the Alaskan Malamute, Siberian Husky and Australian Shepherd.
Caractéristiques cliniques
Affected dogs generally begin displaying symptoms of day blindness and photophobia (sensitivity to bright light) between the ages of 8 and 12 weeks. Only the dog’s bright-light vision is affected; vision remains normal in dim light.
Additional Information
Références
Pubmed ID: 12140185
Year published: 2002
Omia ID: 1676
Omia variant ID: 27