Analysis Tools
growth/size/body
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• small at weaning, but normal weight by P29
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behavior/neurological
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• males exhibit increased susceptibility to pentylenetetrazole (PTZ) induced seizures, showing enhanced incidence of tonic-clonic and clonic seizures and die less than 5 min post-PTZ injection following a generalized tonic-clonic seizure or are in a postictal state for more than 30 min
• females exhibit increased susceptibility to PTZ induced seizures also, however with an increased latency compared to males
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• mutants learn to locate the hidden platform over the training period in the Morris water maze, however upon platform removal, mutants cross over the location of the platform fewer times than wild-type mice, indicating impaired spatial reference memory
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• change in REM sleep is also seen during rebound sleep after a 6 hour sleep deprivation period initiated at ZT0, where a more profound REM sleep rebound is seen in mutants compared to wild-type mice
• no changes in wake and NREM sleep are seen at baseline or during sleep rebound
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• males show an increase in REM sleep amounts, associated with increased numbers of REM sleep episodes and increased EEG theta power, most prominent during the dark period
• a larger portion of dark period REM sleep episodes exhibit a short latency from the preceding wake episodes
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• males exhibit modest wake fragmentation during dark periods (frequent/shorter wake episodes)
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• about 10% of males exhibit extreme hyperactivity prior to weaning followed by tonic-clonic seizures and death within 24 hours
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nervous system
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• males exhibit increased susceptibility to pentylenetetrazole (PTZ) induced seizures, showing enhanced incidence of tonic-clonic and clonic seizures and die less than 5 min post-PTZ injection following a generalized tonic-clonic seizure or are in a postictal state for more than 30 min
• females exhibit increased susceptibility to PTZ induced seizures also, however with an increased latency compared to males
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• about 10% of males exhibit extreme hyperactivity prior to weaning followed by tonic-clonic seizures and death within 24 hours
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• males exhibit impaired hippocampal synaptic plasticity
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• NMDA receptor-mediated synaptic potentials are reduced in CA1 of the hippocampus
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• males exhibit reduced NMDAR excitatory postsynaptic potential (EPSP) amplitude
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• pattern stimulation does not induce LTP in mutants
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mortality/aging
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• about 10% of males exhibit extreme hyperactivity prior to weaning followed by tonic-clonic seizures and death within 24 hours
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muscle
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• mice do not develop overt skeletal muscle pathology or motor deficits prior to 6 months of age and myotonia is absent
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