Summary | Mutation origin | Mutation description | Expression | Phenotypes | Find Mice (IMSR) | References

Symbol:	Mc1rE-so3J
Name:	melanocortin 1 receptor; sombre 3 Jackson
MGI ID:	MGI:1856364
Synonyms:	Eso-3J
Gene:	Mc1r  Location: Chr8:124133846-124137483 bp, + strand  Genetic Position: Chr8, 72.1 cM
Alliance:	Mc1rE-so3J page

Strain of Origin:

CBA/J

Allele Type:    Spontaneous (Constitutively active) Mutation:    Single point mutation   Mutation details: A G-to-A mutation in codon 92 results in a glutamic acid to lysine alteration at this position (p.E92K), causing the gene to be constitutively activated. (J:4636) Inheritance:    Semidominant

View phenotypes and curated references for all genotypes (concatenated display).

In Structures Affected by this Mutation:

1 anatomical structure(s)

Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:	Mouse Strains: 0 strains available      Cell Lines: 0 lines available
Carrying any Mc1r Mutation:	43 strains or lines available

Original:	J:4636 Robbins LS, et al., Pigmentation phenotypes of variant extension locus alleles result from point mutations that alter MSH receptor function. Cell. 1993 Mar 26;72(6):827-34
All:	2 reference(s)