Mc1r^E-so3J
Spontaneous Allele Detail

Summary

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

Mutation origin

• Strain of Origin: CBA/J

Mutation description

• 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

Expression

In Structures Affected by this Mutation:

1 anatomical structure(s)

Find Mice (IMSR)

• 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: 44 strains or lines available

References

• 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)