GEPHE SUMMARY Print
Gephebase Gene
Entry Status
Published
GepheID
GP00002320
Main curator
Martin
PHENOTYPIC CHANGE
Trait Category
Trait State in Taxon A
WT
Trait State in Taxon B
Himalayan mink
Ancestral State
Taxon A
Taxonomic Status
Taxon A
Latin Name
Common Name
American mink
Synonyms
Mustela vison; American mink; mink; Mustela vision
Rank
species
Lineage
Show more ... a; Teleostomi; Euteleostomi; Sarcopterygii; Dipnotetrapodomorpha; Tetrapoda; Amniota; Mammalia; Theria; Eutheria; Boreoeutheria; Laurasiatheria; Carnivora; Caniformia; Mustelidae; Mustelinae; Neovison
NCBI Taxonomy ID
is Taxon A an Infraspecies?
No
Taxon B
Latin Name
Common Name
American mink
Synonyms
Mustela vison; American mink; mink; Mustela vision
Rank
species
Lineage
Show more ... a; Teleostomi; Euteleostomi; Sarcopterygii; Dipnotetrapodomorpha; Tetrapoda; Amniota; Mammalia; Theria; Eutheria; Boreoeutheria; Laurasiatheria; Carnivora; Caniformia; Mustelidae; Mustelinae; Neovison
NCBI Taxonomy ID
is Taxon B an Infraspecies?
No
GENOTYPIC CHANGE
Presumptive Null
No
Molecular Type
Aberration Type
SNP
SNP Coding Change
Nonsynonymous
Molecular Details of the Mutation
c.1835C>G p.H420Q
Experimental Evidence
Taxon A Taxon B Position
Codon - - -
Amino-acid His Gln 420
Authors
Benkel BF; Rouvinen-Watt K; Farid H; Anistoroaei R
Abstract
A rare color variant of the American mink (Neovison vison), discovered on a ranch in Nova Scotia and referred to as the "marbled" variety, carries a distinctive pigment distribution pattern resembling that found in some other species, e.g., the Siamese cat and the Himalayan mouse. We tested the hypothesis that the color pattern in question-light-colored body with dark-colored points (ears, face, tail, and feet)-is due to a mutation in the melanin-producing enzyme tyrosinase (TYR) that results in temperature-sensitive pigment production. Our study shows 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.
Additional References
RELATED GEPHE
EXTERNAL LINKS
COMMENTS
@Parallelism @AllelicSeries https://omia.org/OMIA000202/452646/
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