title: A nucleotide substitution responsible for the tawny coat color mutation carried by the MSKR inbred strain of mice.
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.
authors.affiliation: Laboratory Animal Facility, Research Center for Medical Sciences, Jikei University School of Medicine, Tokyo, Japan. adumiw@jikei.ac.jp
authors.forename: A
authors.initials: A
authors.lastname: Wada
authors.forename: T
authors.initials: T
authors.lastname: Kunieda
authors.forename: M
authors.initials: M
authors.lastname: Nishimura
authors.forename: Y
authors.initials: Y
authors.lastname: Kakizoe-Ishida
authors.forename: N
authors.initials: N
authors.lastname: Watanabe
authors.forename: K
authors.initials: K
authors.lastname: Ohkawa
authors.forename: M
authors.initials: M
authors.lastname: Tsudzuki
mesh_terms: D000595:Amino Acid Sequence; D019943:Amino Acid Substitution / Q000235:genetics; D000818:Animals; D001483:Base Sequence; D017931:DNA Primers; D005787:Gene Frequency; D005808:Genes, Recessive; D006197:Hair / Q000502:physiology*; D007564:Japan; D051379:Mice / Q000235:genetics* / Q000502:physiology; D008815:Mice, Inbred Strains; D008969:Molecular Sequence Data; D010641:Phenotype; D010858:Pigmentation / Q000235:genetics* / Q000502:physiology; D012150:Polymorphism, Restriction Fragment Length; D044102:Receptor, Melanocortin, Type 1 / Q000235:genetics*; D016415:Sequence Alignment; D017422:Sequence Analysis, DNA
chemical_list: D017931:DNA Primers; D044102:Receptor, Melanocortin, Type 1