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Functional loss of the HPS3 gene may lead to a phenotype characterised by pigment dilution in French Bulldogs.
10 working days
Specifications
| Breeds | |
|---|---|
| Gene | |
| Organ | |
| specimen | Swab, Blood EDTA, Blood Heparin, Semen, Tissue |
| Mode of Inheritance | |
| Chromosome | |
| Year Published |
General information
Functional loss of the HPS3 gene may lead to a phenotype characterised by pigment dilution in French Bulldogs. Mode of inheritance is autosomal recessive.
Clinical features
HPS3 deficient (cocoa) coloured individuals are born brown. Their colour darkens along time. In their adulthood they will become slightly darker than TYRP1-deficient dogs (chocolate).
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, bleeding disorders or visual impairments have been identified. It has not been investigated whether this is also applicable for cocoa coloured dogs.
References
Pubmed ID: 32526956
Omia ID: 2275
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