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

Symbol:	Mc1rE-tob
Name:	melanocortin 1 receptor; tobacco darkening
MGI ID:	MGI:1856030
Synonyms:	Etob
Gene:	Mc1r  Location: Chr8:124133846-124137483 bp, + strand  Genetic Position: Chr8, 72.1 cM
Alliance:	Mc1rE-tob page

Strain of Origin:

M. m. domesticus poschiavinus

Allele Type:    Spontaneous Mutation:    Single point mutation   Mutation details: Two independent PCR assays found a C-to-T mutation at coding nucleotide 206 resulting in a serine to leucine alteration in codon 69 (p.S69L). A second nucleotide C-to-T change results in a silent mutation at position 166. The result is a receptor that is overactive, though responsive to hormone regulation, and produces a greater activation of the MC1R effector, G protein-coupled adenylyl cyclase, than does the wild-type allele. (J:4636) Inheritance:    Semidominant

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

Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:	Mouse Strains: 3 strains available      Cell Lines: 0 lines available
Carrying any Mc1r Mutation:	43 strains or lines available

Original:	J:22593 von Lehmann E, Coat colour genetics of the tobacco-mouse (Mus poschiavinus Fatio). Mouse News Lett. 1973;48:23
All:	6 reference(s)