Dysf^tm1.1Mdcb
Targeted Allele Detail

Summary

• Symbol: Dysf^tm1.1Mdcb
• Name: dysferlin; targeted mutation 1.1, Max-Delbrueck-Center for Molecular Medicine Berlin
• MGI ID: MGI:6690810
• Synonyms: DYSF^L1360P, MMex38
• Gene: Dysf Location: Chr6:83985572-84188042 bp, + strand Genetic Position: Chr6, 36.14 cM
• Alliance: Dysf^tm1.1Mdcb page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:302056
• Parent Cell Line: Not Specified (ES Cell)
• Strain of Origin: 129P2/OlaHsd

Mutation description

• Allele Type: Targeted (Humanized sequence)
• Mutations: Insertion, Single point mutation
• Mutation details: A T to C mutation at position 4079 was introduced in exon 38 resulting in a leucine to proline substitution at amino acid 1360 (p.Leu1360Pro). A loxP flanked neomycin resistance cassette was inserted in intron 38 and was removed via cre-mediated recombination. This mutation is analogous to the human c.4022T>C (p.Leu1341Pro) variant causing LGMD2B. Western blot analysis of quadriceps muscle shows significantly reduced protein levels. (J:302056)

Disease models

Expression

In Structures Affected by this Mutation:

3 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:302056 Malcher J, et al., Exon Skipping in a Dysf-Missense Mutant Mouse Model. Mol Ther Nucleic Acids. 2018 Dec 7;13:198-207
• All: 3 reference(s)