OMIA:002275 : Coat colour, HPS3-related |
Categories: Pigmentation phene
Possible human homologues (MIM numbers): 614072 (trait) , 606118 (gene)
Cross-species summary: Loss of function variants in the HPS3 gene encoding "HPS3 biogenesis of lysosomal organelles complex 2 subunit 1" may lead to a phenotype characterized by pigment dilution, (mildly) impaired visual acuity, nystagmus, and a (mild) bleeding disorder. Phene was renamed from 'Coat colour, cocoa' to 'Coat colour, HPS3-related' [29/08/2024]
Species in which this phene is found:
dog (Canis lupus familiaris)
American mink (Neovison vison)
Edit History
- Created by Frank Nicholas on 14 Jun 2020
- Changed by Tosso Leeb on 16 Jun 2020
- Changed by Imke Tammen2 on 13 Aug 2021
- Changed by Imke Tammen2 on 29 Aug 2024