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| Nomenclature |
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Symbol:
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LeprDb-2Btlr
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Name:
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leptin receptor;
diabetes 2 Bruce Beutler
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MGI ID: |
MGI:3784992 |
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Synonyms: |
cherub, Leprm2Btlr |
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Gene:
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Lepr
Location:
Chr4:101717404-101815352 bp, + strand
Genetic Position: Chr4,
46.96 cM
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Mutation
origin |
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Strain of Origin:
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C57BL/6J
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Mutation
description |
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Allele
Type: | |
Chemically induced (ENU) |
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Mutation: | |
Single point mutation |
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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)
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Inheritance: | |
Semidominant |
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Phenotypes
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View phenotypes for all genotypes (concatenated display).
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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)
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Carrying this Mutation: |
Mouse Strains: 0 strains available
Cell Lines: 0 lines available |
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Carrying any Lepr Mutation:
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27 strains or lines available |
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Notes |
Mice with this mutation were not checked for hyperglycemia. J:133633
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| References |
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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;():
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All: |
1 reference(s)
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Analysis Tools
