Lepr^Db-Btlr
Chemically induced Allele Detail

Summary

• Symbol: Lepr^Db-Btlr
• Name: leptin receptor; diabetes Bruce Beutler
• MGI ID: MGI:3784988
• Synonyms: Business class, Lepr^m1Btlr
• Gene: Lepr Location: Chr4:101574601-101672549 bp, + strand Genetic Position: Chr4, 46.96 cM
• Alliance: Lepr^Db-Btlr page

Mutation origin

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

Mutation description

• Allele Type: Chemically induced (ENU)
• Mutation: Single point mutation
• Mutation details: The mutation corresponds to a T-to-A transversion at nucleotide position 999 of the gene, in the seventh of 18 exons. It causes replacement of codon 333, specifying tryptophan, by a stop codon (W333Ter), which results in truncation of the protein by 829 amino acids and loss of the C-terminal intracellular signaling domain, the transmembrane domain, and most of the extracellular region including the ligand-binding domain. (J:133632)
• Inheritance: Semidominant

Disease models

Expression

In Structures Affected by this Mutation:

2 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 Lepr Mutation: 121 strains or lines available

References

• Original: J:133632 Georgel P, et al., Business class is an allele of Lepr (leptin receptor) associated with massive obesity and diabetes. MGI Direct Data Submission. 2008
• All: 1 reference(s)