B6.C-H2-Ab1^bm12/KhEg-Mc1r^e-J/J

Stock number: 003625
Product name: recessive yellow Jackson
Research areas: Dermatology Research, Endocrine Deficiency Research, Immunology, Inflammation and Autoimmunity Research

Description

This spontaneous mutation causes homozygotes to have yellow coat pigmentation but normal eye pigmentation on this otherwise nonagouti background.

Detailed description

These mice carry a spontaneous mutation at the Mc1r locus, having arisen on the B6(C)-H2-Ab1^bm12/KhEgJ strain (Stock No. 001162) and are characterized by a yellow coat color but normal eye pigmentation.

Development

The Mc1r^e-J mutation arose spontaneously on the B6(C)-H-2^bm12/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-Mc1r^e/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

Symbol: H2-Ab1^bm12
Name: b haplotype mutation 12
MGI accession ID: MGI:3586447
Generation method: Spontaneous
Marker symbol: H2-Ab1
Marker name: histocompatibility 2, class II antigen A, beta 1
Chromosome: 17
Strain of origin: (C57BL/6 x BALB/c)F1
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-Ab1^b with sequence from H2-Eb^b.
General note: Genbank ID for this allele: M54876

Allele

Symbol: Mc1r^e-J
Name: recessive yellow Jackson
MGI accession ID: MGI:3042897
Generation method: Spontaneous
Marker symbol: Mc1r
Marker name: melanocortin 1 receptor
Chromosome: 8
Strain of origin: B6(C)-H2-Ab1^bm12/KhEgJ
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-Mc1r^e/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).
General note: Unpublished data from Dr.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.