Lepr^Db-2Btlr
Chemically induced Allele Detail

Summary

• Symbol: Lepr^Db-2Btlr
• Name: leptin receptor; diabetes 2 Bruce Beutler
• MGI ID: MGI:3784992
• Synonyms: cherub, Lepr^m2Btlr
• Gene: Lepr Location: Chr4:101574601-101672549 bp, + strand Genetic Position: Chr4, 46.96 cM
• Alliance: Lepr^Db-2Btlr 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 1413 of the gene, in the ninth of 18 exons. It replaces codon 471, specifying cysteine, with a stop codon (C471Ter), which results in truncation of the protein by 691 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:133633)
• Inheritance: Semidominant

Disease models

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 Lepr Mutation: 122 strains or lines available

Notes

Mice with this mutation were not checked for hyperglycemia. J:133633

References

• Original: J:133633 Xiao N, et al., Cherub is an allele of lepr (leptin receptor) associated with massive obesity and infertility. MGI Direct Data Submission. 2008
• All: 1 reference(s)