Coat Colour Oculocutaneous Albinism (OCA1)
Code: H751
Short description
Oculocutaneous Albinism (OCA) is a group of disorders in which an affected animal produces little to no pigment, leading to silver/white fur, pale eyes and sometimes increased sensitivity to light.
General information
Oculocutaneous Albinism (OCA) is a group of disorders in which an affected animal produces little to no pigment, leading to silver/white fur, pale eyes and sometimes increased sensitivity to light. The variant analysed in this test, Oculocutaneous Albinism Type 1 (OCA1), is also known as Himalayan coat colour. It is an extremely rare trait, found in the Dachshund, and is likely caused by a recessive mutation to the gene TYR.
Specifications
| Breeds | |
|---|---|
| Gene | TYR |
| Chromosome | 21 |
| Mutation | c.230G>A |
| Organ | Integumentary System |
| Specimen | Swab, Blood EDTA, Blood Heparin, Semen, Tissue |
| Mode of Inheritance | Autosomal Recessive |
| Also known as | OCA1 |
Clinical features
Affected dogs are born with an almost completely white coat, with light noses and blue eyes. Extremities like the ears and muzzle are slightly darker, and darken further with age, resembling the coat colour pattern of a Siamese cat or Himalayan rabbit. Affected dogs may also be more sensitive to light.
References
Pubmed ID: 33039541
Year published: 2020
Omia ID: 202
Omia variant ID:
Turnaround information
- 15 working days