OMIA 000202-452646 : Coat colour, oculocutaneous albinism type I (OCA1), TYR-related in Neovison vison
By sequencing a very strong comparative and functional candidate gene, Benkel et al (2009) showed that "marbled mink carry a mutation in exon 4 of the TYR gene (c.1835C > G) which results in an amino acid substitution (p.H420Q). The location of this substitution corresponds to the amino acid position that is also mutated in the TYR protein of the Himalayan mouse. Thus, the marbled variant is more aptly referred to as the Himalayan mink."Associated gene:
|Symbol||Description||Species||Chr||Location||OMIA gene details page||Other Links|
|TYR||Neovison vison||-||no genomic information (-..-)||TYR||Ensembl|
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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|
|332||Albinism||TYR||nonsense (stop-gain)||Naturally occurring variant||c.138T>A||p.(C46*)||2008||18822100|
|260||Himalayan||TYR||missense||Naturally occurring variant||c.1835C>G||p.(H420Q)||2009||19308642|
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.
|2009||Benkel, BF., Rouvinen-Watt, K., Farid, H., Anistoroaei, R. :|
|Molecular characterization of the Himalayan mink. Mamm Genome 20:256-9, 2009. Pubmed reference: 19308642. DOI: 10.1007/s00335-009-9177-6.|
|2008||Anistoroaei, R., Fredholm, M., Christensen, K., Leeb, T. :|
|Albinism in the American mink (Neovison vison) is associated with a tyrosinase nonsense mutation. Anim Genet 39:645-8, 2008. Pubmed reference: 18822100. DOI: 10.1111/j.1365-2052.2008.01788.x.|
- Created by Frank Nicholas on 09 Jul 2009
- Changed by Frank Nicholas on 15 Sep 2011
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- Changed by Frank Nicholas on 08 Nov 2013
- Changed by Tosso Leeb on 24 Jun 2020