OMIA:000202-9669 : Coat/skin colour, oculocutaneous albinism type I (OCA1), TYR-related in Mustela putorius furo (domestic ferret) |
In other species: Japanese medaka , axolotl , dark-spotted frog , Japanese wrinkled frog , Tufted capuchin , Rhesus monkey , hamadryas baboon , dog , red fox , domestic cat , lion , humpback whale , ass (donkey) , pig , red deer , American bison , taurine cattle , rabbit , golden hamster , Mongolian gerbil , domestic guinea pig , Japanese ratsnake , ball python , 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
Mode of inheritance: Autosomal recessive
Disease-related: yes
Key variant known: yes
Year key variant first reported: 2007
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
Associated gene:
| Symbol | Description | Species | Chr | Location | OMIA gene details page | Other Links |
|---|---|---|---|---|---|---|
| TYR | tyrosinase | Mustela putorius furo | NW_025422126.1 (18700273..18809875) | TYR | Homologene, Ensembl , NCBI gene |
Variants
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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 | Year Published | PubMed ID(s) | Acknowledgements |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 666 | Coat colour, albinism | TYR | deletion, gross (>20) | Naturally occurring variant | "deletion of exon 4" | 2007 | 17655555 |
Cite this entry
Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2012). OMIA:000202-9669: Online Mendelian Inheritance in Animals (OMIA) [dataset]. https://omia.org/. https://doi.org/10.25910/2AMR-PV70
Reference
| 2007 | Blaszczyk, W.M., Distler, C., Dekomien, G., Arning, L., Hoffmann, K.P., Epplen, J.T. : |
| Identification of a tyrosinase (TYR) exon 4 deletion in albino ferrets (Mustela putorius furo). Anim Genet 38:421-3, 2007. Pubmed reference: 17655555. DOI: 10.1111/j.1365-2052.2007.01619.x. |
Edit History
- Created by Frank Nicholas on 23 Feb 2012
- Changed by Frank Nicholas on 21 Mar 2012