behavior/neurological
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• center time in the open field is decreased as mice age from P30 to P90, indicating increased anxiety
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• mice show increased repetitive grooming at P30, P60, and P90
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• mice show reduced hanging time in the wire hang test, which worsens as mice age
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• mice exhibit extended behavior arrest (paused locomotion for longer than 3 min at one episode) during free exploration of the arena of the open field; 11% of mice at P30, 22% at P60, and 47% at P90 exhibit this extended behavior arrest
• during the episodes of pronounced stops, mice show a high degree of postural control, positioning their bodies facing the center of the arena, and no apparent overt movements, such as visual survey, rearing or digging
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• in the open field test, mice move less at P60 and P90 and show a tendency for travel distance reduction over time at P30
• mice that do not present prolonged behavior arrests show decreased travel distance
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• mice bury more marbles at P30 but fewer marbles at P60 and P90, indicating age-dependent changes in marble-burying behavior
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nervous system
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• OLIG2+ oligodendrocyte lineage cells, most of which represent oligodendrocyte precursor cells, are increased in the cortex
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• during cortical neurogenesis, the production of deep-layer neurons is increased and the reduction of upper-layer neurons persists in the mature cortex
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• PAX6+ radial glial cells are increased in the cortex at E16
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• oligodendrocyte development process is disrupted
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• the number of phosphor-histone H3+ proliferating cells in the ventricular zone, especially at the ventricular surface, is increased in the cortex
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• DLX1+ GABAergic interneurons are decreased in the cortex
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• adults exhibit smaller brains
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• adults exhibit reduced brain weight despite no difference in body weight
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• adults show longitudinally shortened corpus callosum
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• a substantial fraction of callosal axons is stalled at the midline and forms the Probst bundle, leading to corpus callosum agenesis
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• malformation of the dentate gyrus
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• size of the hippocampus is reduced
|
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• thinner cortex by E16
|
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• mice show an increased number of aberrant L1+ axon bundles crossing the cortical plate toward the superficial area; these displaced L1+ axons express netrin G1 indicating they are derived from the thalamocortical neurons
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• myelination is defective in the cortex, as shown by a decrease of MBP+ myelinated area and MBP immunostaining
• brains show a reduction of the arborization and complexity of myelination patterns indicating that microstructural organization of myelination is impaired
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cellular
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• OLIG2+ oligodendrocyte lineage cells, most of which represent oligodendrocyte precursor cells, are increased in the cortex
|
|
• during cortical neurogenesis, the production of deep-layer neurons is increased and the reduction of upper-layer neurons persists in the mature cortex
|
|
• PAX6+ radial glial cells are increased in the cortex at E16
|
|
• oligodendrocyte development process is disrupted
|
Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| congenital variant of Rett syndrome | DOID:0070657 |
OMIM:613454 |
J:367353 | |


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