GEPHE SUMMARY Print
Entry Status
Published
GepheID
GP00002241
Main curator
Martin
PHENOTYPIC CHANGE
Trait Category
Trait State in Taxon A
Brown mink
Trait State in Taxon B
American Palomino - clear pale tan
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
Yes
Molecular Type
Aberration Type
Insertion Size
unknown
Molecular Details of the Mutation
Large insertion in intron 2 resulting in aberrant transcript
Experimental Evidence
Authors
Cirera S; Markakis MN; Kristiansen T; Vissenberg K; Fredholm M; Christensen K; Anistoroaei R
Abstract
A number of American mink phenotypes display a range of brownish colours. One of these phenotypes, namely American Palomino (b (P) b (P) ) (AP) has been found to be associated with the tyrosinase-related protein 1 (TYRP1) gene by genotyping microsatellite markers in one sire family. Trials for amplifying the genomic DNA and cDNA at the beginning of intron 2 of AP TYRP1 revealed the presence of a large insertion of approximately eight kb. The insertion most likely disrupts different elements necessary for the splicing of intron 2 of the TYRP1 gene. In AP RNAseq data indicate, however, the presence of the wild-type (wt) transcript at very low levels and Western blot reveals three products when using an antibody raised against middle part of the TYRP1 protein. One individual from another brown mink phenotype-commercially named Dawn-was also investigated at the molecular level by long-range PCR and the same size insertion appears to be present. By this we suggest that certain modifiers of TYRP1 would induce different brown colour degradation, which results in at least two different phases of brown.
Additional References
RELATED GEPHE
Related Haplotypes
No matches found.
EXTERNAL LINKS
COMMENTS
https://omia.org/OMIA001249/452646/
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