GEPHE SUMMARY
Gephebase Gene
Entry Status
Published
GepheID
GP00000586
Main curator
Martin
PHENOTYPIC CHANGE
Trait Category
Trait State in Taxon A
Mus musculus
Trait State in Taxon B
Mus musculus
Ancestral State
Data not curated
Taxonomic Status
Taxon A
Latin Name
Common Name
house mouse
Synonyms
house mouse; mouse; Mus musculus Linnaeus, 1758; mice C57BL/6xCBA/CaJ hybrid
Rank
species
Lineage
Show more ... i; Euteleostomi; Sarcopterygii; Dipnotetrapodomorpha; Tetrapoda; Amniota; Mammalia; Theria; Eutheria; Boreoeutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
NCBI Taxonomy ID
is Taxon A an Infraspecies?
No
Taxon B
Latin Name
Common Name
house mouse
Synonyms
house mouse; mouse; Mus musculus Linnaeus, 1758; mice C57BL/6xCBA/CaJ hybrid
Rank
species
Lineage
Show more ... i; Euteleostomi; Sarcopterygii; Dipnotetrapodomorpha; Tetrapoda; Amniota; Mammalia; Theria; Eutheria; Boreoeutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
NCBI Taxonomy ID
is Taxon B an Infraspecies?
No
GENOTYPIC CHANGE
Generic Gene Name
MC1R
Synonyms
CMM5; MSH-R; SHEP2; MSHR
Sequence Similarities
Belongs to the G-protein coupled receptor 1 family.
UniProtKB
Homo sapiens
GenebankID or UniProtKB
Presumptive Null
No
Molecular Type
Aberration Type
SNP
SNP Coding Change
Nonsynonymous
Molecular Details of the Mutation
W252C
Experimental Evidence
Taxon A Taxon B Position
Codon - - -
Amino-acid - - -
Authors
Wada A; Kunieda T; Nishimura M; Kakizoe-Ishida Y; Watanabe N; Ohkawa K; Tsudzuki M
Abstract
"Tawny" is an autosomal recessive coat color mutation found in a wild population of Mus musculus molossinus. The inbred strain MSKR carries the mutation. The causative gene Mc1r(taw) of the tawny phenotype is the second recessive allele at the melanocortin 1 receptor locus and is dominant to the first recessive allele, "recessive yellow" (Mc1r(e)). The Mc1r(taw) gene has six nucleotide substitutions, and its forecasted transcript has three amino acid substitutions (i.e., V101A, V216A, W252C). Though the nucleotide substitutions leading to V101A and V216A exist in various mouse strains, the nucleotide substitution leading to W252C exists in only tawny-colored mice. Thus this substitution is considered to be responsible for the expression of the tawny coat color. The frequency of the allele having this nucleotide substitution was 9.21% in the wild M. m. molossinus population inhabiting Sakai City, Osaka Prefecture, Japan, where the ancestral mice of the MSKR strain were captured.
Additional References
RELATED GEPHE
Related Genes
Related Haplotypes
4
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