Mc4r^M4Btlr
Chemically induced Allele Detail

Summary

• Symbol: Mc4r^M4Btlr
• Name: melanocortin 4 receptor; mutation 4, Bruce Beutler
• MGI ID: MGI:6114074
• Synonyms: Big_boned
• Gene: Mc4r Location: Chr18:66990776-66993558 bp, - strand Genetic Position: Chr18, 39.72 cM, cytoband E1
• Alliance: Mc4r^M4Btlr 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-induced A to T transversion at base pair 66,859,488 (v38) on chromosome 18, or base pair 1,000 in the GenBank genomic region NC_000084 for the gene. The mutation corresponds to residue 1000 in the mRNA sequence NM_016977 within exon 1 of 1 total exons. The mutation results in an isoleucine (I) to phenylalanine (F) substitution at position 185 (I185F) in the protein. (J:255207)
• 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 Mc4r Mutation: 48 strains or lines available

References

• Original: J:255207 Turer E, et al., Mutagenetix entry for Big_boned. MGI Direct Data Submission. 2018
• All: 1 reference(s)