mortality/aging
• homozygotes typically die within 48 hours after birth
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cellular
• lumen of the nuclear envelope contains large numbers of vesicles that appear to derive from the inner nuclear membrane with ventral horn neurons most severely affected
• nuclear envelope abnormalities are observed in neurons in the spinal cord, pons, frontal cortex and hippocampus; ventral horn neurons in mutants have an abnormal nuclear shape, being abnormally convoluted compared to wild-type neurons
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behavior/neurological
• homozygous pups fail to feed after birth
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• homozygous pups do not vocalize after birth
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nervous system
• membrane abnormalities are more severe in the ventral spinal cord compared to the dorsal spinal cord at E18.5
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