behavior/neurological
abnormal gait
(
J:78134
)
• described as seal-like; onset of phenotype appears between 2 and 4 weeks of age
|
• bilateral hindlimb paralysis develops with age of onset at 20 +/- 3 days
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growth/size/body
• two of three mutant mice had significantly lower body weights
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muscle
• standard pathological workup showed extensive atrophy of muscle fibers of the hind limb; central nuclei and rowing of the nuclei in longitudinal sections were also observed; whole muscle mounts of the hind limb stained with fluorescent-labeled bungarotoxin and SMI 31 revealed no abnormalities of neuromuscular junctions
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mortality/aging
• a few homozygotes survive to 3 months of age, but most die before then
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nervous system
N |
• 2 homozygotes assessed at 3 months of age displayed normal EEG readings for more than 4 hours on two separate days with no indication of epileptic activity
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