Dmd^mdx
Spontaneous Allele Detail

Summary

• Symbol: Dmd^mdx
• Name: dystrophin, muscular dystrophy; X linked muscular dystrophy
• MGI ID: MGI:1856328
• Synonyms: mdx, pke, pyruvate kinase expression
• Gene: Dmd Location: ChrX:81992476-84249747 bp, + strand Genetic Position: ChrX, 38.38 cM, cytoband C
• Alliance: Dmd^mdx page

Dmd^mdx/? Myod1^tm1Jae/Myod1^tm1Jae mice develop cardiomyopathy

Show the 4 phenotype image(s) involving this allele.

Mutation origin

• Strain of Origin: C57BL/10ScSn

Mutation description

• Allele Type: Spontaneous
• Mutation: Single point mutation
• Mutation details: This mutation arose in 1981 in a C57BL/10ScSn colony at University of Leicester. A C-to-T substitution in the CAA codon in exon 23 (ENSMUST00000114000 chrX:g.83803333C>T; c.2983C>T; p.Q995*) results in a termination codon (TAA) in place of a glutamine codon. This allele is predicted to produce a truncated protein. (J:9866, J:40541, J:102707)
• Inheritance: Recessive

Disease models

Expression

In Mice Carrying this Mutation:	121 assay results 32 RNA-Seq or microarray experiment(s)
In Structures Affected by this Mutation:	14 anatomical structure(s)

Tumor Data

List all tumor models in MMHCdb carrying Dmd^mdx

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 31 strains available Cell Lines: 0 lines available
• Carrying any Dmd Mutation: 154 strains or lines available

References

• Original: J:28684 Moore K, et al., Research News (Dmd). Mouse News Lett. 1981;64:61
• All: 1315 reference(s)