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Phenotypes Associated with This Genotype
Genotype
MGI:2175830
Allelic
Composition
Dmdmdx/Y
Genetic
Background
C57BL/10ScSnJ
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Dmdmdx mutation (39 available); any Dmd mutation (135 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
behavior/neurological
• muscular tremors noticeable by 12 months of age (J:7361)
• muscular tremors noticeable by 12 months of age (J:7361)
• mild incoordination noticeable by 12 months of age (J:7361)
• mild incoordination noticeable by 12 months of age (J:7361)

muscle
(J:7361)
(J:7361)
• development of electron-dense bodies in the mitochondria resulting in swelling and degenerating mitochondria, and disruption of the plasmalemma basal lamina (J:7361)
• the normal myofibrillar architecture of bands and lines disappears and myofilaments disintegrate and become misaligned (J:7361)
• development of electron-dense bodies in the mitochondria resulting in swelling and degenerating mitochondria, and disruption of the plasmalemma basal lamina (J:7361)
• the normal myofibrillar architecture of bands and lines disappears and myofilaments disintegrate and become misaligned (J:7361)
• variable muscle fiber size; progressive starting at 3 weeks of age (J:7361)
• variable muscle fiber size; progressive starting at 3 weeks of age (J:7361)
• exhibit mild muscle fibrosis, however there is no replacement of lost muscle by fat cells (J:7361)
• exhibit mild muscle fibrosis, however there is no replacement of lost muscle by fat cells (J:7361)
• progressive starting at 9 weeks of age (J:7361)
• progressive starting at 9 weeks of age (J:7361)
(J:7361)
(J:7361)
• progressive starting at 3 weeks of age (J:7361)
• progressive starting at 3 weeks of age (J:7361)
• progressive starting at 3 weeks of age (J:7361)
• progressive starting at 3 weeks of age (J:7361)
• increased intracellular sodium concentration in muscle; increased severity with age (J:3666)
• increased intracellular sodium concentration in muscle; increased severity with age (J:3666)
• progressive degenerative myopathy; increased severity with age (J:7361)
• progressive degenerative myopathy; increased severity with age (J:7361)

homeostasis/metabolism
• exhibit elevated blood levels of creatine kinase (J:7361)
• exhibit elevated blood levels of creatine kinase (J:7361)
• exhibit elevated blood levels of pyruvate kinase (J:7361)
• exhibit elevated blood levels of pyruvate kinase (J:7361)

Mouse Models of Human Disease
OMIM ID Ref(s)
Muscular Dystrophy, Duchenne Type; DMD 310200 J:7361


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
02/02/2016
MGI 6.02
The Jackson Laboratory