Achromatopsia 3 (Day Blindness) – Pointer type
Kodas: H918
Short description
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.
General information
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.
Specifications
| Breeds | |
|---|---|
| Gene | CNGB3 |
| Chromosome | 29 |
| Mutation | c.784G>A |
| Organ | Sensory organs |
| Specimen | Swab, Blood EDTA, Blood Heparin, Semen, Tissue |
| Mode of Inheritance | Autosomal Recessive |
| Also known as | cd^GSPT |
Clinical features
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.
References
Pubmed ID: 12140185
Year published: 2002
Omia ID: 1676
Omia variant ID:
Turnaround information
- 10 working days