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LeprDb-2Btlr
Chemically induced Allele Detail
Nomenclature
Symbol: LeprDb-2Btlr
Name: leptin receptor; diabetes 2 Bruce Beutler
MGI ID: MGI:3784992
Synonyms: cherub, Leprm2Btlr
Gene: Lepr  Location: Chr4:101717404-101815352 bp, + strand  Genetic Position: Chr4, 46.96 cM
Mutation
origin
Strain of Origin:  C57BL/6J
Project Collection: Beutler Mutagenetix
Mutation
description
Allele Type:    Chemically induced (ENU)
Mutation:    Single point mutation
 
Mutation detailsThe 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
Phenotypes
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Disease models
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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:  32 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)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
03/17/2015
MGI 5.21
The Jackson Laboratory