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Dysfim
Spontaneous Allele Detail
Nomenclature
Symbol: Dysfim
Name: dysferlin; inflammatory myopathy
MGI ID: MGI:1857883
Synonyms: SJL-Dysf
Gene: Dysf  Location: Chr6:84008590-84211060 bp, + strand  Genetic Position: Chr6, 36.14 cM
Mutation
origin
Strain of Origin:  SJL
Mutation
description
Allele Type:    Spontaneous
Mutation:    Intragenic deletion
 
Mutation detailsA 171 bp in-frame deletion in the encoded mRNA is predicted to remove 57 amino acids from the corresponding protein. This region corresponds to most of the fourth C2 domain of the protein, and the deletion likely results in instability of the protein. The molecular basis for the mutation is due to a splicing mutation in the gene, resulting from a deletion of a small tandem repeat. (J:67994)
Inheritance:    Recessive
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: 2 strains available      Cell Lines: 0 lines available
Carrying any Dysf Mutation:  32 strains or lines available
References
Original:  J:57764 Bittner RE, et al., Dysferlin deletion in SJL mice (SJL-Dysf) defines a natural model for limb girdle muscular dystrophy 2B [letter]. Nat Genet. 1999 Oct;23(2):141-2
All:  11 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
01/20/2015
MGI 5.21
The Jackson Laboratory