mortality/aging
• homozygotes die perinatally for unknown reasons
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nervous system
• analysis of cortical layer-specific markers Tbr1 (layer VI) and Ctip2 (layer V) revealed focal anomalies in the somatosensory and motor cortices at P0
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• newborn pups exhibit more severe neurodevelopmental defects than Wdfy3disc homozygotes
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• ~13% increase in overall cerebral size relative to wild-type controls
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• at E18.5, mice exhibit widespread focal cortical dysplasias that disrupt most cortical layers and invade the marginal zone
• focal cortical dysplasias occur at a higher frequency than in Wdfy3disc homozygotes
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• newborn brains show an even more drastic thinning and lengthening of the neocortex relative to that in Wdfy3disc homozygotes
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• abnormal cortical layer formation through intermingling of Ctip2+ neurons with Tbr1+ neurons in layer VI
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• 16% reduction in neocortical thickness only in the most lateral position, with a trend towards thinning throughout the cortex
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• heterotopias are found in the somatosensory cortex and more dorsally in the motor area and can affect the hippocampus, unlike in Wdfy3disc homozygotes where they are restricted to lateral aspects of the somatosensory area of the neocortex
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cellular
• analysis of cortical layer-specific markers Tbr1 (layer VI) and Ctip2 (layer V) revealed focal anomalies in the somatosensory and motor cortices at P0
|
Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
autistic disorder | DOID:12849 |
OMIM:209850 OMIM:300425 OMIM:300495 OMIM:300496 OMIM:300830 OMIM:300847 OMIM:300872 OMIM:607373 OMIM:608049 OMIM:608636 OMIM:609378 OMIM:610676 OMIM:610836 OMIM:610908 OMIM:611015 OMIM:611016 OMIM:611913 OMIM:612100 OMIM:613410 OMIM:613436 OMIM:615032 OMIM:615091 |
J:225200 |