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

Possibly relevant human trait(s) and/or gene(s)s (MIM numbers): 203100 (trait) , 606952 (trait) , 606933 (gene)

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.

Associated gene:

Symbol Description Species Chr Location OMIA gene details page Other Links
Tyr tyrosinase Cavia porcellus - no genomic information (-..-) Tyr Homologene, Ensembl, NCBI gene

Variants

By default, variants are sorted chronologically by year of publication, to provide a historical perspective. Readers can re-sort on any column by clicking on the column header. Click it again to sort in a descending order. To create a multiple-field sort, hold down Shift while clicking on the second, third etc relevant column headers.

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.

Breed(s) Variant Phenotype Gene Allele Type of Variant Reference Sequence Chr. g. or m. c. or n. p. Verbal Description EVA ID Year Published PubMed ID(s) Acknowledgements
Coat colour, albinism Tyr missense c.710A>G p.(D237G) PRJEB26285 2018 29947431

References


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 Proc. Am. Ac. Arts and Sci. 38:603, 1903.

Edit History


  • Created by Frank Nicholas on 24 Apr 2015
  • Changed by Frank Nicholas on 03 Aug 2018