Dmd^mdx-5Cv
Chemically induced Allele Detail

Summary

• Symbol: Dmd^mdx-5Cv
• Name: dystrophin, muscular dystrophy; X linked muscular dystrophy 5, Verne Chapman
• MGI ID: MGI:1856332
• Synonyms: mdx5^cv, mdx^5cv, mdx^Cv5
• Gene: Dmd Location: ChrX:81992476-84249747 bp, + strand Genetic Position: ChrX, 38.38 cM, cytoband C
• Alliance: Dmd^mdx-5Cv page

Mutation origin

• Strain of Origin: C3Ha.Cg-Hpr1t^a Pgk1^a

Mutation description

• 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

Disease models

Expression

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)

Find Mice (IMSR)

• 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: 154 strains or lines available

References

• 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: 43 reference(s)