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| Nomenclature |
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Symbol:
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Dysftm1Kcam
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Name:
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dysferlin;
targeted mutation 1, Kevin P Campbell
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MGI ID: |
MGI:2661116 |
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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:83126
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Parent Cell Line:
| R1 (ES Cell) |
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Strain of Origin:
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(129X1/SvJ x 129S1/Sv)F1-Kitl+
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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: 12 kb of sequences at the 3' end of the gene were replaced with a neomycin resistance cassette via homologous recombination. The gene targeting event results in deletion of the last 3 coding exons including the transmembrane domain. Absence of gene expression in homozygous mutant animals was confirmed by Western blot analysis of skeletal muscle microsomes. (J:83126)
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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:83126
Bansal D et al.,
"Defective membrane repair in dysferlin-deficient muscular dystrophy."
Nature 2003 May 8;423(6936):168-72
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All: |
8 reference(s)
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Analysis Tools
