mortality/aging
• die rapidly with cyanosis within 2 to 5 min after birth
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homeostasis/metabolism
• increased intracellular acetylcholine level in the brains of E18.5 mutant mice (>5 fold)
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nervous system
• significant increase in the number of nerve terminals in hemidiaphragms
• increased average area of single nerve terminals in mouse hemidiaphragms
• increase in axonal sprouting and branching in diaphragms
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• significant increase in the number of lumbar motor neurons (36%) at E18.5
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• clusters of nicotinic acetylcholine receptor (nAChR) with stronger labeling and a larger area in neuromuscular junctions at E18.5
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• scarce miniature end-plate potentials (MEPPs) in the neuromuscular junction (NMJ) from E18.5
• small-amplitude MEPPs in the neuromuscular junction (NMJ) from E18.5
• d-tubocurarine (5 uM) treatment abolishes miniature detection in both mutant and wild type mice
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• KCl-depolarization-evoked acetylcholine (Ach) release is hindered at E18.5
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muscle
• complete loss of normal architecture in mutant muscles in some cases
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• skeletal muscles show marked atrophy
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• myofibrilar tissue is replaced with fragmented myofibrils
• degenerated myofibrils were replaced with fibrotic and fatty tissue
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skeleton