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Dysftm1Meho
Targeted Allele Detail
Nomenclature
Symbol: Dysftm1Meho
Name: dysferlin; targeted mutation 1, Mengfatt Ho
MGI ID: MGI:3055139
Synonyms: Dysf-
Gene: Dysf  Location: Chr6:84008590-84211060 bp, + strand  Genetic Position: Chr6, 36.14 cM
Mutation
origin
Germline Transmission:  Earliest citation of germline transmission: J:92838
Parent Cell Line:  J1 (ES Cell)
Strain of Origin:  129S4/SvJae
Mutation
description
Allele Type:    Targeted (Null/knockout)
Mutations:    Insertion, Intragenic deletion
 
Mutation detailsExon 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)
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Disease models
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Expression
In Structures Affected by this Mutation: 2 anatomical structures
Find Mice (IMSR)
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
Carrying any Dysf Mutation:  114 strains or lines available
References
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
All:  5 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
05/15/2018
MGI 6.12
The Jackson Laboratory