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hm1
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Arxtm1Gldn/Arxtm1Gldn
involves: 129/Sv * C57BL/6 |
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cn2
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Arxtm1Gldn/Arxtm1Gldn Nkx2-2tm2.1Suss/Nkx2-2tm2.1Suss Tg(Ins2-cre)23Herr/0 involves: 129 * Black Swiss * C57BL/6 * CBA/J * SJL |
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• beta cell do not transdifferentiate into alpha cells unlike in Nkx2-2tm2.1Suss homozygotes
(J:177838)
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• at E18.5
(J:177838)
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(J:177838)
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cn3
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Arxtm1Gldn/Y Tg(Pou3f4-cre)32Cren/0 involves: 129/Sv * C57BL/6 * CD-1 |
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• whole brain is smaller than wild-type brain at E18.5
(J:138839)
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• normal distribution of interneurons in cerebral cortex is lost in mutants, with Calb1+ interneurons restricted to subcortical and subventricular regions
(J:138839)
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• olfactory bulbs are nearly absent at E18.5
(J:138839)
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cn4
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Arxtm1Gldn/Y Tg(mI56i-cre,EGFP)1Kc/0 involves: 129/Sv * C57BL/6 * CD-1 |
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• fewer than the expected number of male offspring are recovered from litters from crosses between cre-expressing males and Arxtm1Gldn females
(J:148311)
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• a siginificant number of mutant males die early in the postnatal period
(J:148311)
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• some mice display seizures characterized by whole body flexion or extension movements resembling epileptic spasms
(J:148311)
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• some mice display arrest of acitivity/freezing seizures
(J:148311)
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• all adult mice develop spontaneous brief seizures
(J:148311)
• all P14-17 mice demonstrate spontaneous seizures consisting of body arching with forelimb clonus and rearing
(J:148311)
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• no brain weight or gross morphological differences are detected in adult or P14-17 animals compared to controls
(J:148311)
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• some mice display seizures characterized by whole body flexion or extension movements resembling epileptic spasms
(J:148311)
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• some mice display arrest of acitivity/freezing seizures
(J:148311)
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• all adult mice develop spontaneous brief seizures
(J:148311)
• all P14-17 mice demonstrate spontaneous seizures consisting of body arching with forelimb clonus and rearing
(J:148311)
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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
(J:148311)
• smaller reductions are observed in numbers and distribution of calretinin-labeled neurons compared to controls
(J:148311)
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• in P90-120 day-old mice, EEG is disrupted compared to controls; mice display pattern of moderate to higher amplitude and faster frequency activity
(J:148311)
• abnormal activity is more apparent in the hippocampal rather than cortical electrodes
(J:148311)
• adult animals show a lack of normal 4-7 Hz rhythmic theta activity while awake; hippocampal theta activity is rarely recorded, but when present has faster activity superimposed on the normal theta
(J:148311)
• while sleeping, a lack of normal delta power and rhythmic delta activity seen in controls
(J:148311)
• mice have a decrease in delta activity and an increase in faster frequency activity
(J:148311)
• P14-17 animals display EEGs with slower background with lower voltage than mature controls; one animal showed infrequent large amplitude spikes
(J:148311)
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Mouse Models of Human Disease |
OMIM ID | Ref(s) | |
| Epileptic Encephalopathy, Early Infantile, 1; EIEE1 | 308350 | J:148311 | |
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cn5
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Arxtm1Gldn/Arx+ Tg(mI56i-cre,EGFP)1Kc/0 involves: 129/Sv * C57BL/6 * CD-1 |
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• some adult mice develop convulsive Racine stage 5 seizures
(J:148311)
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• some adult mice display epileptic spasm seizures
(J:148311)
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• some adult mice display arrest of acitivity/freezing seizures
(J:148311)
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• about half of adult female mice develop spontaneous brief seizures of various types
(J:148311)
• P14-17 mice develop seizures at a similar rate to adult females; no epileptic spasm seizures are recorded in mice at this ages
(J:148311)
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• no brain weight or gross morphological differences are detected in adult or P14-17 animals compared to controls
(J:148311)
|
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• some adult mice develop convulsive Racine stage 5 seizures
(J:148311)
|
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• some adult mice display epileptic spasm seizures
(J:148311)
|
|
|
• some adult mice display arrest of acitivity/freezing seizures
(J:148311)
|
|
|
• about half of adult female mice develop spontaneous brief seizures of various types
(J:148311)
• P14-17 mice develop seizures at a similar rate to adult females; no epileptic spasm seizures are recorded in mice at this ages
(J:148311)
|
|
|
• 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
(J:148311)
• a significant reduction is observed in numbers and distribution of calretinin-labeled neurons compared to controls
(J:148311)
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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
(J:148311)
• females show no decrease in Delta band activity, but do exhibit an increase in faster frequency activity like male mutants
(J:148311)
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Mouse Models of Human Disease |
OMIM ID | Ref(s) | |
| Epileptic Encephalopathy, Early Infantile, 1; EIEE1 | 308350 | J:148311 | |
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ot6
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Arxtm1Gldn/Y
involves: 129/Sv * C57BL/6 |
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