OMIA 000202-10141 : Coat colour, oculocutaneous albinism type I (OCA1), TYR-related in Cavia porcellus
In other species: domestic cat , cattle , dog , rabbit , water buffalo , ass , Japanese medaka , American mink , humpback whale , domestic ferret , 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
Category: Pigmentation phene
Links to MONDO diseases: No links.
Mendelian trait/disorder: yes
Mode of inheritance: Autosomal recessive
Considered a defect: no
Key variant known: yes
Year key variant first reported: 2018
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
Molecular basis: Yu et al. (2018) reported a "missense mutation (c.710A>G, p.Asp237Gly) located in exon 1" as a likely causal variant.
|Symbol||Description||Species||Chr||Location||OMIA gene details page||Other Links|
|Tyr||tyrosinase||Cavia porcellus||NT_176379.1 (5129323..5052594)||Tyr||Homologene, Ensembl, NCBI gene|
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WARNING! Inclusion of a variant in this table does not automatically mean that it should be used for DNA testing. Anyone contemplating the use of any of these variants for DNA testing should examine critically the relevant evidence (especially in breeds other than the breed in which the variant was first described). If it is decided to proceed, the location and orientation of the variant sequence should be checked very carefully.
Since October 2021, OMIA includes a semiautomated lift-over pipeline to facilitate updates of genomic positions to a recent reference genome position. These changes to genomic positions are not always reflected in the ‘acknowledgements’ or ‘verbal description’ fields in this table.
|OMIA Variant ID||Breed(s)||Variant Phenotype||Gene||Allele||Type of Variant||Source of Genetic Variant||Reference Sequence||Chr.||g. or m.||c. or n.||p.||Verbal Description||EVA ID||Inferred EVA rsID||Year Published||PubMed ID(s)||Acknowledgements|
|1004||Coat colour, albinism||Tyr||missense||Naturally occurring variant||c.710A>G||p.(D237G)||PRJEB26285||2018||29947431|
Note: the references are listed in reverse chronological order (from the most recent year to the earliest year), and alphabetically by first author within a year.
|2018||Yu, F., Jiao, S., Lai, W., Liu, Z., Zhu, M., Zhu, W., Bai, C., Zhang, Y., Zhang, J., Yan, S. :|
|Conserved aspartate-to-glycine mutation in tyrosinase is associated with albino phenotype in domestic guinea pigs (Cavia porcellus). Anim Genet 49:354-355, 2018. Pubmed reference: 29947431. DOI: 10.1111/age.12683.|
|1903||Castle, W.E., Allen, G.M. :|
|The heredity of albinism. Proceedings of the American Academy of Arts and Sciences 38:602-622, 1903.|
- Created by Frank Nicholas on 24 Apr 2015
- Changed by Frank Nicholas on 03 Aug 2018