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

Symbol:	Dmdmdx-2Cv
Name:	dystrophin, muscular dystrophy; X linked muscular dystrophy 2, Verne Chapman
MGI ID:	MGI:1856329
Synonyms:	mdx2cv
Gene:	Dmd  Location: ChrX:81992476-84249747 bp, + strand  Genetic Position: ChrX, 38.38 cM, cytoband C
Alliance:	Dmdmdx-2Cv page

Strain of Origin:

C3Ha.Cg-Hpr1ta Pgk1a

Allele Type:    Chemically induced (ENU) Mutation:    Single point mutation   Mutation details: An A to T transversion two nucleotides 5' to the intron 42/exon 43 splice accesptor site. This mutation abolishes splicing at this site and induces aberrant splice products that do not preserve the reading frame. (J:34517) Inheritance:    Recessive

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

In Structures Affected by this Mutation:

3 anatomical structure(s)

Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:	Mouse Strains: 1 strain available      Cell Lines: 0 lines available
Carrying any Dmd Mutation:	153 strains or lines available

Original:	J:9638 Chapman VM, et al., Recovery of induced mutations for X chromosome-linked muscular dystrophy in mice. Proc Natl Acad Sci U S A. 1989 Feb;86(4):1292-6
All:	5 reference(s)