Mc1r^E-tob
Spontaneous Allele Detail

Summary

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

Mutation origin

• Strain of Origin: M. m. domesticus poschiavinus

Mutation description

• 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

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 4 strains available Cell Lines: 0 lines available
• Carrying any Mc1r Mutation: 44 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)