OMIA:000202-10141 : Coat colour, oculocutaneous albinism type I (OCA1), TYR-related in Cavia porcellus (domestic guinea pig)

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 , golden hamster , Mongolian gerbil , Japanese ratsnake , water buffalo , four-striped grass mouse , ocelot gecko , American mink , Japanese raccoon dog , Rice frog

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

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.

Genetic engineering: Unknown
Have human generated variants been created, e.g. through genetic engineering and gene editing

Associated gene:

Symbol Description Species Chr Location OMIA gene details page Other Links
Tyr tyrosinase Cavia porcellus NW_026947492.1 (45422936..45346081) 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.

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

Cite this entry

Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2018). OMIA:000202-10141: Online Mendelian Inheritance in Animals (OMIA) [dataset]. https://omia.org/. https://doi.org/10.25910/2AMR-PV70

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. Proceedings of the American Academy of Arts and Sciences 38:602-622, 1903.

Edit History


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