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

Symbol:	Dmdmdx-5Cv
Name:	dystrophin, muscular dystrophy; X linked muscular dystrophy 5, Verne Chapman
MGI ID:	MGI:1856332
Synonyms:	mdx5cv, mdx5cv, mdxCv5
Gene:	Dmd  Location: ChrX:81992476-84249747 bp, + strand  Genetic Position: ChrX, 38.38 cM, cytoband C
Alliance:	Dmdmdx-5Cv page

Strain of Origin:

C3Ha.Cg-Hpr1ta Pgk1a

Allele Type:    Chemically induced (ENU) Mutation:    Single point mutation   Mutation details: An A to T transversion at position 1324 in exon 10 creates a new splice donor site in the middle of exon 10. Aberrant splicing from the mutant site to exon 11 creates a 53 bp frameshifting deletion in the encoded mRNA. (J:34517) Inheritance:    Recessive

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

In Mice Carrying this Mutation:	4 assay results 2 RNA-Seq or microarray experiment(s)
In Structures Affected by this Mutation:	5 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:23502 Danko I, et al., The frequency of revertants in mdx mouse genetic models for Duchenne muscular dystrophy. Pediatr Res. 1992 Jul;32(1):128-31
All:	42 reference(s)