Mc4r^m7Btlr
Chemically induced Allele Detail

Summary

• Symbol: Mc4r^m7Btlr
• Name: melanocortin 4 receptor; mutation 7, Bruce Beutler
• MGI ID: MGI:6305820
• Synonyms: blubbery
• Gene: Mc4r Location: Chr18:66990776-66993558 bp, - strand Genetic Position: Chr18, 39.72 cM, cytoband E1
• Alliance: Mc4r^m7Btlr 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: T to C transition at base pair 66,859,182 (v38) on chromosome 18, or base pair 1,306 in the GenBank genomic regionNC_000084for theMc4rgene.The mutation corresponds to residue 1,306 in the mRNA sequence NM_016977 within exon 1 of 1 total exons. The mutation results in a tyrosine to histidine substitution at position 287 (Y287H) in the MC4R protein. (J:274968)
• 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

Notes

https://mutagenetix.utsouthwestern.edu/phenotypic/phenotypic_rec.cfm?pk=4409

References

• Original: J:274968 Zhang Z, et al., Mutagenetix entry for blubbery. MGI Direct Data Submission. 2019
• All: 1 reference(s)