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Dysftm1Kcam
Targeted Allele Detail
Nomenclature
Symbol: Dysftm1Kcam
Name: dysferlin; targeted mutation 1, Kevin P Campbell
MGI ID: MGI:2661116
Gene: Dysf  Location: Chr6:84008590-84211060 bp, + strand  Genetic Position: Chr6, 36.14 cM
Mutation
origin
Germline Transmission:  Earliest citation of germline transmission: J:83126
Parent Cell Line:  R1 (ES Cell)
Strain of Origin:  (129X1/SvJ x 129S1/Sv)F1-Kitl+
Mutation
description
Allele Type:    Targeted (Null/knockout)
Mutations:    Insertion, Intragenic deletion
 
Mutation details12 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)
Phenotypes
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View phenotypes for all genotypes (concatenated display).
Disease models
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Find Mice (IMSR)
Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:  Mouse Strains: 3 strains available      Cell Lines: 0 lines available
Carrying any Dysf Mutation:  32 strains or lines available
References
Original:  J:83126 Bansal D, et al., Defective membrane repair in dysferlin-deficient muscular dystrophy. Nature. 2003 May 8;423(6936):168-72
All:  9 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
02/17/2015
MGI 5.21
The Jackson Laboratory