Mc4r^m2Btlr
Chemically induced Allele Detail

Summary

• Symbol: Mc4r^m2Btlr
• Name: melanocortin 4 receptor; mutation 2, Bruce Beutler
• MGI ID: MGI:5619128
• Synonyms: chubby
• Gene: Mc4r Location: Chr18:66990776-66993558 bp, - strand Genetic Position: Chr18, 39.72 cM, cytoband E1
• Alliance: Mc4r^m2Btlr page

Mutation origin

• Strain of Origin: C57BL/6J
• Project Collection: Beutler Mutagenetix

Mutation description

• Allele Type: Chemically induced (ENU) (Not Specified)
• Mutation: Single point mutation
• Mutation details: ENU mutagenesis induced a T to A transversion at base pair 66,859,847 (v38) on chromosome 18, or base pair 641 in the GenBank genomic region NC_000084 encoding Mc4r. The mutation corresponds to residue 641 in the mRNA sequence NM_016977 within exon 1 of 1 total exons. The mutation results in a valine (V) to glutamic acid (E) substitution at position 65 (V65E) in the MC4R protein. (J:218963)
• 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: 0 strains available Cell Lines: 0 lines available
• Carrying any Mc4r Mutation: 48 strains or lines available

References

• Original: J:218963 SoRelle J, et al., Mutagenetix entry for chubby. MGI Direct Data Submission. 2015
• All: 1 reference(s)