Analysis Tools
mortality/aging
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• most animals surviving past weaning die by 35-40 days of age probably from a lethal convulsive episode; B6.SJL congenics rarely live past 40 days of age
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• more than half of the homozygotes die before weaning
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growth/size/body
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• mutants are slightly smaller than wild-type littermates at weaning
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behavior/neurological
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• at 11-14 days of age, mutants have an ataxic gait; ataxia is more prominent in the hindlimbs and is characterized by a slow, wide-based gait and coarse truncal instability while moving
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• brief episodes of 3/second waves and spike wave patterns are observed in 5 nd 6 week old animals, but do not progress with age
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• mutants undergo rare spontaneous generalized tonic-clonic seizure episodes as early as 14 days of age; seizures are usually of less than one minute and are preceded by several seconds of wild running
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nervous system
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• brief episodes of 3/second waves and spike wave patterns are observed in 5 nd 6 week old animals, but do not progress with age
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• mutants undergo rare spontaneous generalized tonic-clonic seizure episodes as early as 14 days of age; seizures are usually of less than one minute and are preceded by several seconds of wild running
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• occasional dystrophic axons are seen in and around the cerebellar molecular layer
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• progressive neuronal degeneration is observed in deep cerebellar nuclei at 3 weeks of age; by 7 weeks and more so at 4 months, most DCN large neurons have disappeared; surviving neurons are surrounded by excessive glial cells
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• by 7 weeks and more so at 4 months, most DCN large neurons have disappeared; surviving neurons are surrounded by excessive glial cells
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• Purkinje cell axons are hypertrophic
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• Purkinje cell axons are hypertrophic
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• swollen and displaced Purkinje cell axon collateral boutons are seen as early as P14
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• progressive neuronal degeneration is observed in deep cerebellar nuclei at 3 weeks of age; by 7 weeks and more so at 4 months, most DCN large neurons have disappeared; surviving neurons are surrounded by excessive glial cells
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• Purkinje cell axon degeneration in the cerebella at 4 months of age
• however, no loss of Purkinje cells is detected in the cerebellum
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• progressive degeneration of cochlear nuclei is also observed but fewer neurons are affected at each timepoint examined
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• progressive degeneration of vestibular nuclei is also observed but fewer neurons are affected at each timepoint examined
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• Purkinje cell axon degeneration in the cerebella at 4 months of age
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