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Targeted Allele Detail
Symbol: Dmdtm1Mok
Name: dystrophin, muscular dystrophy; targeted mutation 1, Motoya Katsuki
MGI ID: MGI:2429942
Synonyms: Xmdx52
Gene: Dmd  Location: ChrX:82948870-85206141 bp, + strand  Genetic Position: ChrX, 38.38 cM, cytoband C
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 detailsExpression 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 for all genotypes (concatenated display).
Disease models
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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:  135 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:  5 reference(s)

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Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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MGI 6.01
The Jackson Laboratory