Summary | Mutation origin | Mutation description | Expression | Phenotypes | Disease models | Find Mice (IMSR) | References

Symbol:	Dmdtm1Mok
Name:	dystrophin, muscular dystrophy; targeted mutation 1, Motoya Katsuki
MGI ID:	MGI:2429942
Synonyms:	Xmdx52
Gene:	Dmd  Location: ChrX:81992476-84249747 bp, + strand  Genetic Position: ChrX, 38.38 cM, cytoband C
Alliance:	Dmdtm1Mok page

Germline Transmission:	Earliest citation of germline transmission: J:43164
Parent Cell Line:	CCE/EK.CCE (ES Cell)
Strain of Origin:	129S/SvEv-Gpi1c

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)

View phenotypes and curated references for all genotypes (concatenated display).

In Structures Affected by this Mutation:

2 anatomical structure(s)

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:	153 strains or lines available

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:	12 reference(s)