mortality/aging
• die shortly after birth
• homozygotes born at normal frequency
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respiratory system
• lungs fail to inflate at birth
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nervous system
N |
• fore- and hindlimb innervation is normal
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• at E10-E11, about 5% of motor neuron cell bodies are found in the ventral root rather than the spinal cord
• motor neurons of the hypoglossal motor nucleus are abnormally dispersed
• median and lateral motor columns in the cervical and lumbar regions of the spinal cord are less defined
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• disorganized pattern of nerve branching at the axial muscle branch point and in the plexi at the base of the fore- and hindlimbs
• motor axons to the limbs are dispersed and defasciculated
• major motor axons to the limbs are present despite disorganization
• highly variable axon misdirection, from completely normal to absent axons
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• highly variable axon misdirection, from completely normal to absent axons
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muscle
• acetylcholine receptor clusters are more dispersed and smaller than normal
• acetylcholine receptor clusters are often not associated with nerve terminals
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