Dysf^tm1Meho
Targeted Allele Detail

Summary

• Symbol: Dysf^tm1Meho
• Name: dysferlin; targeted mutation 1, Mengfatt Ho
• MGI ID: MGI:3055139
• Synonyms: Dysf^-
• Gene: Dysf Location: Chr6:83985572-84188042 bp, + strand Genetic Position: Chr6, 36.14 cM
• Alliance: Dysf^tm1Meho page

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 details: Exon 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)

Disease models

Expression

In Structures Affected by this Mutation:

2 anatomical structure(s)

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: 184 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)