behavior/neurological
• mice exhibit shorter latencies to Pentylenetrazole (PTZ)-induced tonic-clonic seizure indicating reduced seizure threshold
• seizure susceptibility is enhanced more than in homozygous mice
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• in the Barnes maze task, mice spend similar time in the target quadrant and other quadrants unlike controls that spend more time in the target quadrant, indicating a mild deficit in spatial memory
• however, mice show no differences from wild-type mice in novel object recognition
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• mice show deficits in sociability in the three-chamber social interaction task
• however, mice show normal social recognition memory in the three-chamber social novelty task
• mice show no differences in anxiety in the open field arena, elevated plus maze, or light-dark transition tasks
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nervous system
• mice exhibit shorter latencies to Pentylenetrazole (PTZ)-induced tonic-clonic seizure indicating reduced seizure threshold
• seizure susceptibility is enhanced more than in homozygous mice
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• mice show a 35% reduction in the number of excitatory glutamatergic synapses in the hippocampus in adults
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Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
autism spectrum disorder | DOID:0060041 | J:321396 | ||
progressive myoclonus epilepsy 1B | DOID:0111448 |
OMIM:612437 |
J:321396 |