Dmd^tm1Kmf
Targeted Allele Detail

Summary

• Symbol: Dmd^tm1Kmf
• Name: dystrophin, muscular dystrophy; targeted mutation 1, Kevin M Flanigan
• MGI ID: MGI:5781149
• Synonyms: Dup2
• Gene: Dmd Location: ChrX:81992476-84249747 bp, + strand Genetic Position: ChrX, 38.38 cM, cytoband C
• Alliance: Dmd^tm1Kmf page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:233298
• Parent Cell Line: Bruce 4 (ES Cell)
• Strain of Origin: B6.Cg-Thy1^a

Mutation description

• Allele Type: Targeted (Hypomorph)
• Mutations: Duplication, Insertion
• Mutation details: The targeting construct inserted downstream of exon 2 a loxP site, a duplicate copy of exon 2 and an FRT-flanked neomycin resistance cassette with a 3' loxP site. mRNA analysis confirms the inclusion of a duplicated exon 2 in muscle. Immunofluorescence and immunoblot analysis indicate that expression is essentially absent, although some muscle shows very low-level trace expression. (J:233298)

Disease models

Expression

In Structures Affected by this Mutation:

4 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 Dmd Mutation: 154 strains or lines available

References

• Original: J:233298 Vulin A, et al., The first exon duplication mouse model of Duchenne muscular dystrophy: A tool for therapeutic development. Neuromuscul Disord. 2015 Nov;25(11):827-34
• All: 2 reference(s)