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Chemically induced Allele Detail
Symbol: LeprDb-Btlr
Name: leptin receptor; diabetes Bruce Beutler
MGI ID: MGI:3784988
Synonyms: Business class, Leprm1Btlr
Gene: Lepr  Location: Chr4:101717404-101815352 bp, + strand  Genetic Position: Chr4, 46.96 cM
Strain of Origin:  C57BL/6J
Project Collection: Beutler Mutagenetix
Allele Type:    Chemically induced (ENU)
Mutation:    Single point mutation
Mutation detailsThe 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
View phenotypes and curated references for all genotypes (concatenated display).
Disease models
In Structures Affected by this Mutation: 2 anatomical structures
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:  76 strains or lines available
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)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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MGI 6.12
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