Analysis Tools
mortality/aging
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• many pups die in their home cage prior to weaning; in the third postnatal week (especially from P15-P17), pups die at a much higher rate than wild-type mice (14% vs. 0.4%)
• dead mice have frequent generalized tonic-clonic seizures before death, indicating sudden unexplained death in epilepsy (premature sudden death)
• sudden death resolves mostly after P17
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behavior/neurological
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• mice show increased number of vertical counts in the open-field test
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• in a 60-minute open-field test, mice travel farther than wild-type mice indicating hyperactivity
• however, mice do not show anxiety, exhibit normal spatial learning and memory in the Barnes maze, and no abnormalities in social interaction
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• mice exhibit multiple types of spontaneous seizures with variable severity; most common ones include atypical absence, typical absence, and myoclonic seizures
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• mice exhibit reduced threshold for pentylenetetrazol (PTZ)-induced seizures; 30 mg/kg PTZ induces myoclonic and generalized tonic-clonic seizures compared to absence-like seizures in most wild-type mice, whereas a dose of 60-80 mg/kg PTZ is required to induce generalized tonic-clonic seizures or seizure-related death in wild-type mice
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• generalized tonic-clonic seizures are not seen in adults but are seen in pre-weaned pups
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• mice exhibit age-dependent hyperthermic seizures
• 3.7% of P15-P17 mice, 44.4% of P20, and 90% of P30 or older mice exhibit myoclonic seizures when exposed to 42 degrees Celcius for 30 minutes (hyperthermia)
• 0% of P15-P17 mice and P20 mice, and 33% of P30 and older mice exhibit generalized tonic-clonic seizures when exposed to hyperthermia
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• atypical absence seizures are associated with behavioral arrest that lasts from a few seconds to several minutes and have irregular ictal high-amplitude spike-wave discharges (3-5 Hz) that are not always synchronized with the onset of behavioral arrest
• typical absence seizures generally last for a few seconds and are associated with symmetrical high-amplitude spike-wave discharges with rhythmic 6-8 Hz on ictal EEG; onset is is accompanied by time-locked EEG activity and sudden behavioral arrest
• on average, mice have 56 atypical and 12 typical absence seizures per day
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nervous system
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• mice exhibit multiple types of spontaneous seizures with variable severity; most common ones include atypical absence, typical absence, and myoclonic seizures
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• mice exhibit reduced threshold for pentylenetetrazol (PTZ)-induced seizures; 30 mg/kg PTZ induces myoclonic and generalized tonic-clonic seizures compared to absence-like seizures in most wild-type mice, whereas a dose of 60-80 mg/kg PTZ is required to induce generalized tonic-clonic seizures or seizure-related death in wild-type mice
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• generalized tonic-clonic seizures are not seen in adults but are seen in pre-weaned pups
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• mice exhibit age-dependent hyperthermic seizures
• 3.7% of P15-P17 mice, 44.4% of P20, and 90% of P30 or older mice exhibit myoclonic seizures when exposed to 42 degrees Celcius for 30 minutes (hyperthermia)
• 0% of P15-P17 mice and P20 mice, and 33% of P30 and older mice exhibit generalized tonic-clonic seizures when exposed to hyperthermia
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• atypical absence seizures are associated with behavioral arrest that lasts from a few seconds to several minutes and have irregular ictal high-amplitude spike-wave discharges (3-5 Hz) that are not always synchronized with the onset of behavioral arrest
• typical absence seizures generally last for a few seconds and are associated with symmetrical high-amplitude spike-wave discharges with rhythmic 6-8 Hz on ictal EEG; onset is is accompanied by time-locked EEG activity and sudden behavioral arrest
• on average, mice have 56 atypical and 12 typical absence seizures per day
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• mice exhibit prolonged and high amplitude thalamocortical oscillations recorded from thalamic ventrobasal nucleus neurons (long period rhythmic neuronal firing activity with different action potential amplitudes) compared to very short spontaneous network bursts in wild-type mice
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• mice exhibit reduced mIPSC amplitudes recorded from somatosensory cortex layer V/VI pyramidal neurons
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muscle
Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| generalized epilepsy with febrile seizures plus | DOID:0060170 | J:306976 | ||
