behavior/neurological
• some adult mice develop convulsive Racine stage 5 seizures
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• some adult mice display epileptic spasm seizures
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• some adult mice display arrest of acitivity/freezing seizures
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• about half of adult female mice develop spontaneous brief seizures of various types
• P14-17 mice develop seizures at a similar rate to adult females; no epileptic spasm seizures are recorded in mice at this ages
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nervous system
N |
• no brain weight or gross morphological differences are detected in adult or P14-17 animals compared to controls
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• some adult mice develop convulsive Racine stage 5 seizures
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• some adult mice display epileptic spasm seizures
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• some adult mice display arrest of acitivity/freezing seizures
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• about half of adult female mice develop spontaneous brief seizures of various types
• P14-17 mice develop seizures at a similar rate to adult females; no epileptic spasm seizures are recorded in mice at this ages
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• a prominent reduction in calbindin-labeled neurons in the neocortex compared to controls in the hippocampus, pattern of staining of interneurons is altered from cell body staining to mainly staining interneuron processes
• a significant reduction is observed in numbers and distribution of calretinin-labeled neurons compared to controls
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• EEGs of female mice exhibit abnormal background activity; EEG is periodically interrupted by longer runs of higher amplitude, faster rhythms, and demonstrates excessive sharp activity
• females show no decrease in Delta band activity, but do exhibit an increase in faster frequency activity like male mutants
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Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
early infantile epileptic encephalopathy | DOID:0050709 | J:148311 |