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Mc1rE-tob
Spontaneous Allele Detail
Nomenclature
Symbol: Mc1rE-tob
Name: melanocortin 1 receptor; tobacco darkening
MGI ID: MGI:1856030
Synonyms: Etob
Gene: Mc1r  Location: Chr8:123407107-123410744 bp, + strand  Genetic Position: Chr8, 72.1 cM
Mutation
origin
Strain of Origin:  M. m. domesticus poschiavinus
Mutation
description
Allele Type:    Spontaneous
Mutation:    Single point mutation
 
Mutation detailsTwo 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
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Find Mice (IMSR)
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:  34 strains or lines available
References
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)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB), Gene Ontology (GO)
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last database update
08/04/2020
MGI 6.15
The Jackson Laboratory