behavior/neurological
• motor deficits at age 4 weeks
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nervous system
• many dead cells at age 4 weeks
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• many dead cells at age 4 weeks
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• severe cerebellar degeneration at age 4 weeks
• many dead Purkinje and granule cells at age 4 weeks
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• dense fibrils and severely damaged myelinated nerve fibers in cerebellum at age 4 weeks
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growth/size/body
• severe growth retardation of the few mice that are born
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mortality/aging
• the few mice that are born die within 4 weeks
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• most embryos die
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cellular
• accumulation of small fragmented and swollen rod-shaped Golgi membranes in cerebellar Purkinje cells at age 4 weeks
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• highly enriched smooth ER membranes in cerebellar Purkinje cells and myelinated nerve fibers at age 4 weeks
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