Leprm7Btlr
Chemically induced Allele Detail
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Symbol: |
Leprm7Btlr |
Name: |
leptin receptor; mutation 7, Bruce Beutler |
MGI ID: |
MGI:5806340 |
Synonyms: |
giant |
Gene: |
Lepr Location: Chr4:101574601-101672549 bp, + strand Genetic Position: Chr4, 46.96 cM
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Alliance: |
Leprm7Btlr page
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Strain of Origin: |
C57BL/6J
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Project Collection: |
Beutler Mutagenetix
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Allele Type: |
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Chemically induced (ENU) (Not Specified) |
Mutation: |
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Single point mutation
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Mutation details: ENU-induced G to A transition at base pair 101,765,152 (v38) on chromosome 4, or base pair 48,019 in the GenBank genomic region NC_000070 within the donor splice site on intron 8 of the gene. The effect of the mutation at the cDNA and protein level have not examined, but the mutation is predicted to result in skipping of the 291-nucleotide exon 8 (out of 19 total exons), resulting in an in-frame deletion of 97 amino acids beginning after amino acid 329 of the encoded protein.
(J:236685)
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Inheritance: |
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Recessive |
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View phenotypes and curated references for all genotypes (concatenated display).
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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
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Carrying any Lepr Mutation: |
120 strains or lines available
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Original: |
J:236685 Choi JH, et al., Mutagenetix entry for giant. MGI Direct Data Submission. 2016; |
All: |
1 reference(s) |
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