Mouse Genome Informatics

involves: 129S1/Sv * 129X1/SvJ * C57BL/10ScSn
phenotype observed in females
phenotype observed in males
N normal phenotype
• die between 4 and 14 weeks of age, with only half surviving beyond 8 weeks (J:42389)
• lifespan is 4-20 weeks (J:59675)

• significantly smaller by 4 weeks of age
• grow more slowly after 3 weeks of age (J:42389)

• seen by 10 weeks of age
• necrosis begins earlier and persists longer than in single Dmd mutants and leads to fibrosis
• begin to exhibit symptoms of skeletal muscle disease at 4 weeks of age and severity progresses with age (J:42389)
• develop severe skeletal muscle dystrophy (J:59675)
• muscle degeneration begins earlier than in single Dmd mutants
• develop moderate to severe cardiomyopathy (J:59675)
• relaxation time of muscle (time from peak force to baseline) is greatly prolonged
• sternomastoid muscle generates only 40-60% as much tension as controls in response to stimulation of its nerve, indicating weakness

cardiovascular system
• large areas of necrotic myocytes with infiltrating mononuclear cells are present in 5 of 9 mutant hearts examined at 8 to 11 weeks of age
• necrosis is most prominent in the epicardial surface of the right ventricle, but is seen throughout both ventricles, however ventricles are not dilated or hypertrophic
• develop moderate to severe cardiomyopathy (J:59675)

nervous system
• exhibit fewer junctional folds in the neuromuscular junction (J:42389)
• distribution of acetylcholine receptors within the synapse branches is abnormal, with a patchy distribution (J:60776)

• exhibit contracted and stiff limbs at 4 weeks of age (J:42389)
• severe limb contractures (J:59675)


• abnormal waddling gait is seen at 4 weeks of age

Mouse Models of Human Disease
Muscular Dystrophy, Duchenne Type; DMD 310200 J:42389 , J:59675