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Phenotypes Associated with This Genotype
Genotype
MGI:3798607
Allelic
Composition
Dmdmdx/Y
Genetic
Background
C57BL/10ScSn-Dmdmdx
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Dmdmdx mutation (41 available); any Dmd mutation (159 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
muscle
N
• limb and diaphragm muscle weights are similar to controls in mice at 1 year of age
• atrial trabecular formation is impaired such that trabeculae at E14.5 are long and hook shaped
• cultured embryonic muscle stem cells from E11.5 to E17.5 exhibit hyperproliferation and apoptosis
• Pax7+ skeletal muscle stem cell population is reduced and disorganized at E17.5
• myotube alignment is disrupted early in myogenesis
• myotubes are hypotrophic in E13.5-E17.5 muscles
• myotube width varies more in E13.5-E17.5 muscles than in wild-type muscle
• myotube defects occur earlier in intercostals at E13.5 than proximal limb muscles at E15.5
• misalignment and tangential displacement of myotubes in intercostal muscles at E13.5-E17.5
• myonuclei are more frequently located centrally and slightly further apart in the myotube at E15.5
• only central nuclei (not peripheral) are present in E15.5 muscles
• muscles exhibit a small reduction in myotube number at E13.5-E17.5
• cardiac myocyte disorganization
• unlike in wild-type mice, cardiac fiber degeneration with phagocytosis is observed
• at 15 days of age necrotic fibers are found, occassionally in clusters, at 20 days of age necrotic fibers are numerous as are groups of regenerating fibers with internally placed nuclei, necrotic fibers are most numerous between 30 and 60 days of age and gradually dissapear although a few scattered necrotic fibers are present at 120 and 180 days of age, and the regenerating fibers increase in size after 30 days of age and almost all of the fibers have internally placed nuclei by 60 to 120 days of age, but there is almost no fibrous tissue proliferation or adipose tissue replacement
• only central nuclei (not peripheral) are present in E15.5 muscles (J:150127)
(J:152525)
• mice exhibit skeletal muscle fiber degeneration with phagocytosis unlike in wild-type mice
• misalignment and tangential displacement of myotubes in intercostal muscles at E13.5-E17.5
• intercostal muscle fibers are distributed more sparsely at E17.5 and fetuses have reduced intercostal muscle fiber densities
• 37.5% depletion of intercostal myotubes by E17.5
• increased collagen deposition in the diaphragm and quadriceps muscles between 12 weeks and 1 year of age
• scattered hypercontracted fibers are found by electron microscopy at 10 days of age
• decrease in the tetanic force produced by the diaphragm and extensor digitorum longus muscles compared to wild-type controls
• electromyograms reveal peudomyotonia unlike in wild-type mice

behavior/neurological
N
• performance in a rotarod assay is not significantly different from controls in mice at 6 - 20 weeks of age
• in fore and hind paws
• increased hind paw base width
• at 1 year of age
• at 6 weeks of age, display a decrease in rearings after exercise compared to wild-type controls
• at 12 weeks of age, display a decrease in ambulation and increase in rest time after exercise compared to wild-type controls
• at 1 year of age, display a decrease in distance traveled after exercise compared to wild-type controls
• interindividual responses to exercise induced fatigue are highly variable

adipose tissue
• decrease in the accumulation of abdominal fat compared to wild-type controls

growth/size/body
• decrease in the accumulation of abdominal fat compared to wild-type controls
• between 8 and 20 weeks of age compared to wild-type controls
• however, body size as determined by measures of tibia length or body length is similar to wild-type controls

cardiovascular system
• cardiac myocyte disorganization
• unlike in wild-type mice, cardiac fiber degeneration with phagocytosis is observed
• distention or separation of the myocardial and endocardial cell layers of the atria occurs at E17.5
• atrial trabecular formation is impaired such that trabeculae at E14.5 are long and hook shaped

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
Duchenne muscular dystrophy DOID:11723 OMIM:310200
J:150127 , J:177391


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last database update
05/15/2018
MGI 6.12
The Jackson Laboratory