Analysis Tools
mortality/aging
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• median lifespan of homozygotes is 20 days with only 20% living beyond 40 days
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behavior/neurological
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• latency to fall when gripping a cage lid is shorter than normal by 2 weeks of age, and surviving homozygotes are unable to perform the test at 8 weeks of age
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• by two weeks of age the neurodegeneration and hindlimb wasting results in an odd, waddling gait in the hindquarters
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growth/size/body
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• although outwardly normal at birth, both females and males are significantly smaller than normal by 2 weeks of age and fail to gain weight at a normal rate
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muscle
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• assessment of the medial gastrocnemius finds decreased muscle fiber size by 16-18 days of age
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nervous system
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• decreased neuromuscular junction occupancy with denervation and fragmentation of postsynaptic terminals is found in those that survive to 8 weeks of age
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• measurements of the myelinated axon numbers in cross sections of femoral motor nerve branches, femoral sensory nerve branches, and L4 ventral roots shows a loss by 16-18 days of age and subsequent decrease in average fiber diameter
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Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| neuromuscular disease | DOID:440 | J:296528 | ||
| neuropathy | DOID:870 | J:296528 | ||
