mortality/aging
• extremely reduced life expectancy, dying at a mean age of 33 days
|
behavior/neurological
• in 4 weeks old mutant mice
|
• reduced spontaneous and induced motor activity after 3 weeks of age
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skeleton
muscle
• infiltration of connective tissue with mononuclear cells, and regenerating myocytes in 4-weeks-old mutant mice
• the morphology of skeletal muscle from mutant mice was similar to that of control at 3 weeks of except the presence of some rare necrotic muscle fibers surrounded by mononuclear cell infiltration
|
• excessive variation in fiber size
|
• large central nuclei in 4-weeks-old mutant mice
|
• in 4-weeks-old mutant mice
|
• based on immunological examination, mutant mice display destabilization of the sarcolemma indicated by increased serum creatine kinase activity, abnormal uptake of a membrane impermeant molecule, and patchy or lacking dystrophin
|
nervous system
N |
• the morphology of motor neurons was similar to that of control and no significant loss of motor neurons of the anterior horns was detected in mutant mice at 4 weeks of age
|
homeostasis/metabolism
Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
Werdnig-Hoffmann disease | DOID:13137 |
OMIM:253300 |
J:67884 |