GEPHE SUMMARY Print
Gephebase Gene
Entry Status
Published
GepheID
GP00002310
Main curator
Martin
PHENOTYPIC CHANGE
Trait Category
Trait State in Taxon A
WT
Trait State in Taxon B
Albino coat from various breeds sampled in Germany
Ancestral State
Taxon A
Taxonomic Status
Taxon A
Common Name
domestic ferret
Synonyms
Mustela furo; domestic ferret; black ferret; ferret; Mustela putorius furo Linnaeus, 1758; Mustela putoris furo
Rank
subspecies
Lineage
Show more ... teleostomi; Sarcopterygii; Dipnotetrapodomorpha; Tetrapoda; Amniota; Mammalia; Theria; Eutheria; Boreoeutheria; Laurasiatheria; Carnivora; Caniformia; Mustelidae; Mustelinae; Mustela; Mustela putorius
NCBI Taxonomy ID
is Taxon A an Infraspecies?
No
Taxon B
Common Name
domestic ferret
Synonyms
Mustela furo; domestic ferret; black ferret; ferret; Mustela putorius furo Linnaeus, 1758; Mustela putoris furo
Rank
subspecies
Lineage
Show more ... teleostomi; Sarcopterygii; Dipnotetrapodomorpha; Tetrapoda; Amniota; Mammalia; Theria; Eutheria; Boreoeutheria; Laurasiatheria; Carnivora; Caniformia; Mustelidae; Mustelinae; Mustela; Mustela putorius
NCBI Taxonomy ID
is Taxon B an Infraspecies?
Yes
Taxon B Description
-
GENOTYPIC CHANGE
Presumptive Null
No
Molecular Type
Aberration Type
Deletion Size
-
Molecular Details of the Mutation
Deletion of exon 4 as detected by Southern Blot
Experimental Evidence
Authors
Blaszczyk WM; Distler C; Dekomien G; Arning L; Hoffmann KP; Epplen JT
Abstract
Albinism is due to a lack of pigmentation in hair, skin and eye, and has been shown to occur in several animal species. Mutations of the tyrosinase (TYR) gene account for albinism in domestic cats, rabbits, cattle, mice and rats. In this study, we demonstrate that a TYR mutation accounts for albinism in the ferret (Mustela putorius furo). The coding sequence of the five exons of TYR was determined in genomic DNA from wild-type pigmented 'sable' coloured and albino ferrets. It was not possible to amplify TYR exon 4 in albino ferrets originating from different breeds. The deletion of exon 4 in albino ferrets was confirmed by Southern blot hybridization of genomic DNA from albino and pigmented ferrets. This is the first report of a deletion of a TYR exon in a non-human mammal.
Additional References
RELATED GEPHE
Related Genes
No matches found.
Related Haplotypes
No matches found.
EXTERNAL LINKS
COMMENTS
https://omia.org/OMIA000202/9669/ @Parallelism
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