Dmd^mdx-3Cv
Chemically induced Allele Detail

Summary

• Symbol: Dmd^mdx-3Cv
• Name: dystrophin, muscular dystrophy; X linked muscular dystrophy 3, Verne Chapman
• MGI ID: MGI:1856330
• Synonyms: mdx3^cv, mdx^3cv, mdx3cv, mdx^cv3
• Gene: Dmd Location: ChrX:81992476-84249747 bp, + strand Genetic Position: ChrX, 38.38 cM, cytoband C
• Alliance: Dmd^mdx-3Cv page

Mutation origin

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

Mutation description

• Allele Type: Chemically induced (ENU) (Hypomorph)
• Mutation: Single point mutation
• Mutation details: A T to A transversion creates a novel splice acceptor site 14 bp upstream of the natural site in exon 66. Splicing at this mutant site results in the inclusion of 14 bp of intronic sequence and shifts the reading frame of the encoded mRNA. While a low level of a smaller transcript is expressed from this allele, western blot analysis failed to detect any isoform of protein in various tissues from homozygous mutant mice (J:12150). However, a second report shows that the transcript generated by skipping exons 65 and 66 (D65/66) generates an in-frame transcript that produces low levels of dystrophin (J:250658). (J:12150, J:250658)
• Inheritance: Recessive

Disease models

Expression

In Structures Affected by this Mutation:

4 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: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: 33 reference(s)