Mc1r^e-J
Spontaneous Allele Detail

Summary

• Symbol: Mc1r^e-J
• Name: melanocortin 1 receptor; recessive yellow Jackson
• MGI ID: MGI:3042897
• Gene: Mc1r Location: Chr8:124133846-124137483 bp, + strand Genetic Position: Chr8, 72.1 cM
• Alliance: Mc1r^e-J page

Mutation origin

• Strain of Origin: B6(C)-H2-Ab1^bm12/KhEgJ

Mutation description

• Allele Type: Spontaneous
• Mutation: Deletion
• Mutation details: This mutation arose spontaneously at the Jackson Laboratory in 1998. It was shown to be an allele of Mc1r by a noncomplementation test with C57BL/6J-Mc1r^e/J. A single bp deletion at position 856 (NM_008559.2) that results in a frameshift and premature temrination after 10 codons (per. comm. Dr. Ian Jackson).
• Inheritance: Recessive

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: 1 strain available Cell Lines: 0 lines available
• Carrying any Mc1r Mutation: 41 strains or lines available

Notes

Unpublished data from Dr. Ian Jackson (The University of Edinburgh) found a single base pair deletion at position 856 (NM_008559.2) that results in a framshift at codon 143 (NP_032585.2) and termination after 10 codons.

References

• Original: J:90328 Samples RM, et al., A remutation to Mc1r^e named recessive yellow Jackson (e-J). MGI Direct Data Submission. 2004
• All: 6 reference(s)