Analysis Tools
mortality/aging
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• lethality at birth is suggested to be due to respiratory failure
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behavior/neurological
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• no movement was detectable in response to mechanical stimuli
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cardiovascular system
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• dilated vascular channels are found in the subcutaneous soft tissue resulting in hyperemic skin blotches
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embryo
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• homozygous animals appear smaller and exhibit a tucked position
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growth/size/body
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• homozygous animals appear smaller and exhibit a tucked position
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muscle
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• thin and disorganized musculature and AChR cluster sites are more dispersed in mutant muscles
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• thin and disorganized musculature and AChR cluster sites are more dispersed in mutant muscles
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respiratory system
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• at birth, animals do not breathe
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nervous system
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• abnormal neocortical plate morphology; irregular bulges and undulations in the cortical plate in a subset of mutant animals
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• spontaneous miniature excitatory postsynaptic currents (mEPSCs) were detected in mutant hippocampal neurons, but the frequency was lower than in controls; treatment of neurons with agents to accelerate vesicle fusion events increased this frequency
• neuronal postsynaptic responses were unaffected
• the transmission defect is suggested to be due to a block in regulated presynaptic exocytosis
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• phrenic nerve stimulation of mutant diaphragms resulted in absence of EPPs and evoked contractility; however, carbachol treatment resulted in contraction of mutant diaphragms suggesting that the muscles are capable of responding to neurotransmitter signals
• spontaneous miniature EPP activity was recorded in mutant diaphragms due to low spontaneous release of acetylcholine
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integument
blotchy skin
(
J:73755
)
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• dilated vascular channels are found in the subcutaneous soft tissue resulting in hyperemic skin blotches
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