Dmd^tm1Mok
Targeted Allele Detail

Summary

• Symbol: Dmd^tm1Mok
• Name: dystrophin, muscular dystrophy; targeted mutation 1, Motoya Katsuki
• MGI ID: MGI:2429942
• Synonyms: X^mdx52
• Gene: Dmd Location: ChrX:81992476-84249747 bp, + strand Genetic Position: ChrX, 38.38 cM, cytoband C
• Alliance: Dmd^tm1Mok page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:43164
• Parent Cell Line: CCE/EK.CCE (ES Cell)
• Strain of Origin: 129S/SvEv-Gpi1^c

Mutation description

• Allele Type: Targeted (Null/knockout)
• Mutations: Insertion, Intragenic deletion
• Mutation details: Expression of three isoforms produced by the endogenous locus was disrupted by the replacement of exon 52 with a neomycin selection cassette. Western blot analysis showed that while both the 116 kD peripheral nerve and the 71 kD non-muscle isoforms were present in mutant mice, the 427 kD dystrophin, 260 kD retinal, and 140 kD isoforms were absent. (J:43164)

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: 2 strains available Cell Lines: 0 lines available
• Carrying any Dmd Mutation: 154 strains or lines available

References

• Original: J:43164 Araki E, et al., Targeted disruption of exon 52 in the mouse dystrophin gene induced muscle degeneration similar to that observed in Duchenne muscular dystrophy. Biochem Biophys Res Commun. 1997 Sep 18;238(2):492-7
• All: 14 reference(s)