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| Nomenclature |
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Symbol:
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Otofdeaf5Jcs
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Name:
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otoferlin;
deaf 5, John C Schimenti
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MGI ID: |
MGI:3712927 |
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Gene:
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Otof
Location:
Chr5:30370076-30461932 bp, - strand
Genetic Position: Chr5,
16.48 cM, cytoband B1
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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: A T to A base substitution in exon 10 yields an isoleucine to asparagine change in a highly conserved residue of the C2B protein domain and immunohistochemistry of the cochlea fails to detect this protein. (J:125960)
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Inheritance: | |
Recessive |
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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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| References |
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Original: |
J:100332
Wilson L et al.,
"Random mutagenesis of proximal mouse chromosome 5 uncovers predominantly embryonic lethal mutations."
Genome Res 2005 Aug;15(8):1095-105
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All: |
5 reference(s)
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Analysis Tools
