Coat Colour Oculocutaneous Albinism (OCA4-1)
Kodas: H715
Short description
Oculocutaneous Albinism is a disorder caused by a lack of pigment in the skin, hair and eyes, resulting in a white coat colour and pale eyes, and which can also cause sensitivity to light.
General information
Oculocutaneous Albinism is a disorder caused by a lack of pigment in the skin, hair and eyes, resulting in a white coat colour and pale eyes, and which can also cause sensitivity to light. This particular variant of the disease, Oculocutaneous Albinism, is caused by a recessive mutation to the gene SLC45A2. It is found in the Lhasa Apso, Pekingese and German Spitz (Pomeranian) breeds, as well as in certain mixed-breed dogs. Similar variants of Type IV albinism are found in the Doberman and the Bullmastiff.
Specifications
| Breeds | All Breeds |
|---|---|
| Gene | SLC45A2 |
| Chromosome | 4 |
| Mutation | c.1478G>A |
| Organ | Integumentary System |
| Specimen | Swab, Blood EDTA, Blood Heparin, Semen, Tissue |
| Mode of Inheritance | Autosomal Recessive |
| Also known as | WDP |
Clinical features
Affected dogs show the classic features of albinism, with white fur, light pink skin and pale fur.
References
Pubmed ID: 25790827
Year published: 2015
Omia ID: 1821
Omia variant ID:
Turnaround information
- 10 working days