OMIA:000202-10036 : Coat colour, oculocutaneous albinism type I (OCA1), TYR-related in Mesocricetus auratus |
In other species: domestic cat , taurine cattle , dog , rabbit , water buffalo , ass (donkey) , Japanese medaka , American mink , humpback whale , domestic ferret , pig , domestic guinea pig , Tufted capuchin , dark-spotted frog , Japanese wrinkled frog , Rice frog , lion , Mongolian gerbil , red fox , hamadryas baboon , red deer , Japanese raccoon dog , Japanese ratsnake , ocelot gecko , American bison , Rhesus monkey , four-striped grass mouse
Categories: Pigmentation phene
Possibly relevant human trait(s) and/or gene(s)s (MIM numbers): 203100 (trait) , 606952 (trait) , 606933 (gene)
Links to MONDO diseases: No links.
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. |
Edit History
- Created by Imke Tammen2 on 07 May 2023