Analysis Tools
mortality/aging
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• poor health results in sacrifice at around 27 weeks of age
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muscle
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• individual muscle fibers are occasionally surrounded by moderate to large amounts of compact, fibrous connective tissue and infiltrates of fat with some muscle fibers mineralized
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• mice surviving to 30 weeks exhibit hypertrophy of muscle fibers
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• presence of large calcium deposits in muscle
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• mice display more severe muscle phenotype than Fkrptm1Scbr Sox1tm1(cre)Take mice
• variation in fiber size, centrally nucleated muscle fibers and increases in the number of split fibers at 12 weeks of age
• pronounced expansion of the interstitium with small to moderate amounts of variably mature fibroadipose tissue and substantial inflammation in the interstitium and necrotic muscle fibers comprised of neutrophils, macrophages, and lesser numbers of lymphocytes and plasma cells
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• muscle shows a reduction in resistance to eccentric contraction-induced injury (isometric force in the last contraction) relative to controls
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• substantial inflammation in the interstitium and necrotic muscle fibers comprised of neutrophils, macrophages, and lesser numbers of lymphocytes and plasma cells
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behavior/neurological
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• partial collapse of the leg extensor reflex
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immune system
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• substantial inflammation in the interstitium and necrotic muscle fibers comprised of neutrophils, macrophages, and lesser numbers of lymphocytes and plasma cells
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Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| autosomal recessive limb-girdle muscular dystrophy type 2I | DOID:0110299 |
OMIM:607155 |
J:207119 | |
