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Spontaneous Allele Detail
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
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 detailsThis 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).
Disease models
In Mice Carrying this Mutation: 95 assay results
In Structures Affected by this Mutation: 15 anatomical structures
Find Mice (IMSR)
Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:  Mouse Strains: 28 strains available      Cell Lines: 0 lines available
Carrying any Dmd Mutation:  153 strains or lines available
Original:  J:28684 Moore K, et al., Research News (Dmd). Mouse News Lett. 1981;64:61
All:  1120 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB), Gene Ontology (GO)
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last database update
MGI 6.19
The Jackson Laboratory