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

Symbol: Dmdmdx 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: Dmdmdx page

Dmdmdx/? Myod1tm1Jae/Myod1tm1Jae mice develop cardiomyopathy Show the 4 phenotype image(s) involving this allele.

Strain of Origin:

C57BL/10ScSn

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

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

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)

List all tumor models in MMHCdb carrying Dmdmdx

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

Original:	J:28684 Moore K, et al., Research News (Dmd). Mouse News Lett. 1981;64:61
All:	1320 reference(s)