Dysf^im
Spontaneous Allele Detail

Summary

• Symbol: Dysf^im
• Name: dysferlin; inflammatory myopathy
• MGI ID: MGI:1857883
• Synonyms: SJL-Dysf
• Gene: Dysf Location: Chr6:83985572-84188042 bp, + strand Genetic Position: Chr6, 36.14 cM
• Alliance: Dysf^im page

Mutation origin

• Strain of Origin: SJL

Mutation description

• Allele Type: Spontaneous (Null/knockout)
• Mutation: Intragenic deletion
• Mutation details: The molecular basis for the mutation is due to a splicing mutation in the gene, resulting from a 141 bp deletion of a small tandem repeat in an intron. This splicing mutation results in the deletion of an exon from the encoded mRNA. This results in a 171 bp in-frame deletion in the encoded mRNA, and 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. (J:67994)
• Inheritance: Recessive

Disease models

Expression

In Mice Carrying this Mutation:	1 RNA-Seq or microarray experiment(s)
In Structures Affected by this Mutation:	1 anatomical structure(s)

Tumor Data

List all tumor models in MMHCdb carrying Dysf^im

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: 184 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: 16 reference(s)