mortality/aging
• homozygotes born at normal frequency
• die shortly after birth
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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
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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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digestive/alimentary system
• expanded at E17.5
• gastrointestinal tract otherwise normal
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endocrine/exocrine glands
• normal islet structure is disrupted in the ventral pancreas at E17.5
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• 20% reduction in insulin positive cells in the ventral pancreas at E17.5
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• three fold increase in somatostatin positive cells in the ventral pancreas at E17.5
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• evagination of the dorsal pancreatic bud fails to take place
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