OMIA:000202-10036 : Coat colour, oculocutaneous albinism type I (OCA1), TYR-related in Mesocricetus auratus (golden hamster)

In other species: Japanese medaka , dark-spotted frog , Japanese wrinkled frog , Tufted capuchin , Rhesus monkey , hamadryas baboon , dog , red fox , domestic ferret , domestic cat , lion , humpback whale , ass (donkey) , pig , red deer , American bison , taurine cattle , rabbit , Mongolian gerbil , domestic guinea pig , Japanese ratsnake , water buffalo , four-striped grass mouse , ocelot gecko , American mink , Japanese raccoon dog , Rice frog

Categories: Pigmentation phene , Vision / eye phene

Links to possible relevant human trait(s) and/or gene(s) in OMIM: 203100 (trait) , 606952 (trait) , 606933 (gene)

Mendelian trait/disorder: yes

Considered a defect: unknown

Key variant known: no

Cross-species summary: Congenital lack of pigment in most parts of the body. Due to a non-functional form of the enzyme tyrosinase. Also known as Oculocutaneous albinism (OCA), Acromelanism and as the Himalayan coat-colour pattern

Cite this entry

Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2023). OMIA:000202-10036: Online Mendelian Inheritance in Animals (OMIA) [dataset]. https://omia.org/. https://doi.org/10.25910/2AMR-PV70

Reference

2023 Sakamoto, A., Hirobe, T. :
Isolation of a new line of Syrian hamster having a novel p.Leu262Pro mutation of tyrosinase with progressive pigmentation in its eyes and ears. J Dermatol Sci , 2023. Pubmed reference: 37147248. DOI: 10.1016/j.jdermsci.2023.04.005.

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  • Created by Imke Tammen2 on 07 May 2023