These mice carry a spontaneous mutation at the Mc1r locus, having arisen on the B6(C)-H2-Ab1bm12/KhEgJ strain (Stock No. 001162) and are characterized by a yellow coat color but normal eye pigmentation.
The Mc1re-J mutation arose spontaneously on the B6(C)-H-2bm12/KhEgJ background (stock #001162) at The Jackson Laboratory in 1998 when that strain was at generation N10F49. The mutation was shown to be an allele of Mc1r by allele testing with C57BL/6J-Mc1re/J (stock #000060). This strain has been maintained by sibling mating, predominantly heterozygote x homozygote and vice versa, and in 2004 reached generation F49+F18.
|Allele Name||b haplotype mutation 12|
|Allele Synonym(s)||H2-Ab1bm12; b haplotype mutation 12|
|Gene Symbol and Name||H2-Ab1, histocompatibility 2, class II antigen A, beta 1|
|Gene Synonym(s)||H2-Ab; A beta; RT1.B; response to metastatic cancers 1; I-region-associated antigen 2; expressed sequence AI845868; Abeta; Bb; H-2Ab; H2-Ab; AI845868; H-2Ab; Rmcs1; Ia2; Ia-2; HLA-DQB; I-Ab; Ia-2; Ia2; IAb; Rmcs1; I-Abeta; IDDM1; histocompatibility 2, class II antigen A, beta; CELIAC1|
|Strain of Origin||(C57BL/6 x BALB/c)F1|
|General Note||Genbank ID for this allele: M54876|
|Molecular Note||Three non-consecutive nucleotide changes occurred, resulting in three amino acid substitutions in the beta1 exon. The amino acid changes consist of codon 67 (isoleucine to phenylalanine), codon 70 (arginine to glutamine) and codon 71 (threonine to lysine). These changes were likely the product of gene conversion of H2-Ab1b with sequence from H2-Ebb.|
|Allele Name||recessive yellow Jackson|
|Allele Synonym(s)||recessive yellow Jackson; Mc1re-J|
|Gene Symbol and Name||Mc1r, melanocortin 1 receptor|
|Gene Synonym(s)||Mshra; SHEP2; extension recessive yellow; CMM5; tobacco darkening; e; Tob; MSH-R; e; melanocyte hormone receptor alpha; Mshra; extension, recessive yellow; Mcr1|
|Strain of Origin||B6(C)-H2-Ab1bm12/KhEgJ|
|General Note||Unpublished data from Dr. Ian Jackson (The University of Edinburgh) found a single base pair deletion at position 856 (NM_008559.2) that results in a framshift at codon 143 (NP_032585.2) and termination after 10 codons.|
|Molecular Note||This mutation arose spontaneously at the Jackson Laboratory in 1998. It was shown to be an allele of Mc1r by a noncomplementation test with C57BL/6J-Mc1re/J. A single bp deletion at position 856 (NM_008559.2) that results in a frameshift and premature temrination after 10 codons (per. comm. Dr. Ian Jackson).|
When using the recessive yellow Jackson mouse strain in a publication, please cite the originating article(s) and include JAX stock #003625 in your Materials and Methods section.
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