nervous system
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• presynaptic defects include a failure of synaptic vesicles to properly cluster in the nerve terminal and remain in axons unlike in wild-type mice
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• mice exhibit abnormal acetylcholine receptor clusters in the postsynaptic membrane compared with wild-type
• presynaptic defects include a failure of synaptic vesicles to properly cluster in the nerve terminal and remain in axons, nerve terminals that fail to fully cover acetylcholine receptor clusters, and synaptic vesicle-rich sprouts that extend beyond the border of the postsynaptic specialization unlike in wild-type mice
• neuromuscular junctions exhibit erroneously enwrapped nerve terminals and decreased contact surface for neurotransmission compared to in wild-type mice
• at P14, acetylcholine receptor clusters are smaller than in wild-type and remain unperforated and unbranched unlike in wild-type mice
• at P28 and P56, acetylcholine receptor clusters remain small, simple, and plaque-like unlike in wild-type mice
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• motor nerves elicit slightly reduced postsynaptic endplate potential compared to in wild-type mice
• paired-pulse stimulation with interstimulus intervals of 30 ms induces depression unlike in similarly treated wild-type mice
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• mice exhibit slightly reduced miniature endplate potential (MEPP) amplitude and dramatically reduced MEPP frequency compared to in wild-type mice
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• enhanced acetylcholine quantal release induced by sucrose or potassium is compromised compared to in wild-type mice
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behavior/neurological
growth/size/body
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• while mice exhibit normal weights at birth and in adulthood, mice exhibit slow grow at puberty compared with wild-type mice
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cellular
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• presynaptic defects include a failure of synaptic vesicles to properly cluster in the nerve terminal and remain in axons unlike in wild-type mice
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