behavior/neurological
• mice show a reduction of freezing time in contextual memory indicating impaired associated memory
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• mice show a reduction of freezing time in cued memory indicating impaired associated memory
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• mice show increased escape latency and reduced time spent in the target quadrant during the training process of the Morris water maze
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• in the probe trail of the Morris water maze, mice show less preference for the target quadrant than controls
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• mice exhibit reduction of immobility time in the tail suspension test indicating decreased depression-like behavior
• however, mice show no alterations in motor ability in the rotarod test, social interaction behavior in the three-chamber test. anxiety-related behavior, in the novel object recognition test and in spontaneous activity in the open field
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cellular
• nearly 40% of cortical neurons grown in culture do not develop into polarized neurons
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• cortical neurons grown in culture show increased axon branching
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• the percentage of neurons remaining in the white matter or cortical layers V-VI is higher than in controls at P0 and P7 but majority of cortical neurons migrate into layers II-IV at P14, indicating delayed neuronal migration
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nervous system
• nearly 40% of cortical neurons grown in culture do not develop into polarized neurons
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• cortical neurons grown in culture show increased axon branching
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• the percentage of neurons remaining in the white matter or cortical layers V-VI is higher than in controls at P0 and P7 but majority of cortical neurons migrate into layers II-IV at P14, indicating delayed neuronal migration
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• mice show laminar defects in the cerebral cortex, with Cux1+ (marking superficial cortical neurons) neurons distributed in both layers II-IV and mislocated throughout layers V-VI, and reduced thickness of superficial cortical layer at P0 but compensated at P7
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• axon arbors are more complex and axons project to both the contralateral somatosensory cortex (S1) and secondary somatosensory cortex (S2) cortical regions while in wild-type mice the axons mainly reach the contralateral S1 cortical region
• complexity of contralateral axon projection remains increased at P14
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• dendritic spine density in pyramidal neurons from both S1 and CA1 hippocampal regions is decreased
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Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
intellectual disability | DOID:1059 | J:307501 |