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| Nomenclature |
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Symbol:
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Leprtm1Mgmj
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Name:
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leptin receptor;
targeted mutation 1, Martin G Myers, Jr
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MGI ID: |
MGI:2653294 |
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Synonyms: |
leprs, leprS1138, s |
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Gene:
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Lepr
Location:
Chr4:101390009-101487957 bp, + strand
Genetic Position: Chr4,
46.7 cM
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Mutation
origin |
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Germline Transmission:
| Earliest citation of germline transmission:
J:82334
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Parent Cell Line:
| Not Specified (ES Cell) |
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Strain of Origin:
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129/Sv
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Mutation
description |
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Allele
Type: |
Targeted (knock-in) |
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Mutation: |
Nucleotide substitutions |
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Tyrosine 1138 of exon 18b was replaced with a serine residue (Y1138S) and a neomycin resistance cassette was inserted into the downstream intron via homologous recombination. The Y1138S amino acid substitution specifically disrupts the leptin receptor long form (LRb)-STAT3 signal. Expression of the knock-in allele in mutant animals was confirmed by semi-quantitative RT-PCR analysis of hypothalamus RNA. (J:82334) |
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| Find Mice (IMSR) |
Mouse strains and cell lines available from the
International Mouse Strain Resource
(IMSR)
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Phenotype
summary
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Phenotype Summary by Mammalian Phenotype terms
(show or
hide all annotated terms)
Genotypes are listed in the next section.
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Key:
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| hm |
homozygous |
ht |
heterozygous |
| cn |
conditional genotype |
cx |
complex: > 1 genome feature |
| tg |
involves transgenes |
ot |
other: hemizygous, indeterminate,... |
| N |
normal phenotype |
 |
expected model not found |
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Phenotypic
data by
genotype
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Phenotypic Data by Genotype
(show or
hide all phenotypic details)
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| Genotype | Allelic Composition | Genetic Background |
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  hm1
Disease Model |
Leprtm1Mgmj/Leprtm1Mgmj |
B6.129-Leprtm1Mgmj |
growth/size behavior/neurological homeostasis/metabolism reproductive system endocrine/exocrine glands
| Models with phenotypic similarity to human diseases not associated with human LEPR. |
| Obesity |
| J:82334 |
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| Genotype | Allelic Composition | Genetic Background |
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ht2
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Leprtm1Mgmj/Lepr+ |
B6.129-Leprtm1Mgmj |
growth/size |
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Disease
models
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| References |
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Original: |
J:82334
Bates SH et al.,
"STAT3 signalling is required for leptin regulation of energy balance but not reproduction."
Nature 2003 Feb 20;421(6925):856-9
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All: |
9 reference(s)
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