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| Nomenclature |
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Symbol:
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Dysftm1Meho
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Name:
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dysferlin;
targeted mutation 1, Mengfatt Ho
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MGI ID: |
MGI:3055139 |
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Synonyms: |
Dysf- |
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Gene:
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Dysf
Location:
Chr6:84008590-84211060 bp, + strand
Genetic Position: Chr6,
36.14 cM
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Mutation
origin |
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Germline Transmission:
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Earliest citation of germline transmission:
J:92838
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Parent Cell Line:
| J1 (ES Cell) |
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Strain of Origin:
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129S4/SvJae
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Mutation
description |
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Allele
Type: | |
Targeted (knock-out) |
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Mutations: | |
Insertion, Intragenic deletion |
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Mutation details: Exon 45, containing part of the highly conserved C2E domain, was replaced with a neo cassette placed in the reverse transcriptional orientation. Immunoblot demonstrated wild-type protein was not present in skeletal muscle homogenates of mutants. (J:92838)
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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 Dysf Mutation:
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33 strains or lines available |
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| References |
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Original: |
J:92838
Ho M et al.,
"Disruption of muscle membrane and phenotype divergence in two novel mouse models of dysferlin deficiency."
Hum Mol Genet 2004 Sep 15;13(18):1999-2010
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All: |
4 reference(s)
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Analysis Tools
