Coat Colour Cocoa (HPS3-related)
Code: H887
Short description
Brown coat colour in dogs is usually the result of a mutation to the B-Locus (TYRP1).
General information
Brown coat colour in dogs is usually the result of a mutation to the B-Locus (TYRP1). However, in some French Bulldogs, a brown colour – known as cocoa – is instead caused by a recessive mutation to the gene HPS3.
Specifications
| Breeds | |
|---|---|
| Gene | HPS3 |
| Chromosome | 23 |
| Mutation | c.2420G>A |
| Organ | Integumentary System |
| Specimen | Swab, Blood EDTA, Blood Heparin, Semen, Tissue |
| Mode of Inheritance | Autosomal Recessive |
Clinical features
Affected dogs have a brown coat colour, referred to as cocoa, which is often slightly darker than the brown caused by B-Locus in adult dogs. Cocoa dogs may be born with blue eyes, though both coat and eye colour tend to darken into adulthood. Note that a dog can be affected by both the B-Locus and Cocoa mutations, resulting in a lighter brown colour.
Additional information
Coat colour is an intricate trait that involves a combination of multiple different genes. Testing for a range of different loci will give the most complete prediction of a dog's coat colour genetics.
In human patients with Hermansky-Pudlak Syndrome 3, caused by a mutation to the same gene, bleeding disorders and visual impairments have been identified. It has not been investigated whether this is also applicable for cocoa coloured dogs.
References
Pubmed ID: 32526956
Year published: 2020
Omia ID: 2275
Omia variant ID:
Turnaround information
- 15 working days