Lepr^m8Btlr
Chemically induced Allele Detail

Summary

• Symbol: Lepr^m8Btlr
• Name: leptin receptor; mutation 8, Bruce Beutler
• MGI ID: MGI:6269382
• Synonyms: fluffy
• Gene: Lepr Location: Chr4:101574601-101672549 bp, + strand Genetic Position: Chr4, 46.96 cM
• Alliance: Lepr^m8Btlr 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 C to A transition at base pair 101,792,023 (v38) on chromosome 4, or base pair 74,890 in the GenBank genomic region NC_000070. The mutation corresponds to residue 3,172 in the mRNA sequence NM_146146 within exon 18 of 19 total exons. The mutation results in a proline to threonine substitution at position 874 (P874T) in the LEPR protein. (J:267679)
• Inheritance: Recessive

Expression

In Structures Affected by this Mutation:

5 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 Lepr Mutation: 121 strains or lines available

References

• Original: J:267679 Keef J, et al., Mutagenetix entry for fluffy. MGI Direct Data Submission. 2018
• All: 1 reference(s)