Analysis Tools
mortality/aging
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• lifespan is to P120
|
growth/size/body
microcephaly
(
J:306113
)
|
• developmental delay characterized by reduced body size and weight
|
behavior/neurological
|
• mice show an increase in self-grooming time and number of self-grooming bouts
|
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• mice exhibit motor defects
|
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• mice exhibit reduced number and duration of ultrasonic calls
|
nervous system
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• reduction in post-mitotic neurons relative to apical progenitors and a decreased number of newborn intermediate progenitors, suggests a failure of apical progenitors to switch towards neuron generation
• a greater proportion of neural progenitors exit the cell cycle in the brains of embryos compared to control embryos
• neural progenitors isolated from developing cortices form fewer neurospheres and smaller neural neurospheres, indicating reduced self-renewal capacity
|
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• the number of post-mitotic neurons comprising the cortical plate is reduced at E14.5
|
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• 2-month-old mice show a decrease in cortical and hippocampal parvalbumin (PV)-expressing interneurons
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• reduction in white matter and cortical volume
|
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• aberrant organization and composition of the main cortical tracts; the hippocampal commissure and anterior commissure and internal capsules show reduced fractional anisotropy, while the axial diffusivity is not altered, and radial diffusivity is increased across all cortical tracts
• connectome profiling shows a hyperconnectivity across long- and short-range connections in the brains, predominately in structures within the limbic system, the salience network, and the cerebellum
• brains exhibit decreased connectivity throughout nodes of the default mode network and corpus callosum; corpus callosum is severely affected, including its midline and peripheral sections towards the external capsule
|
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• somatosensory cortex shows a decrease in both the upper and deep cortical layers
|
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• fetuses (E14.5) show reduced thickness of the cerebral cortex which persists in neonatal (P7) and adult (2 months of age) mice
|
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• massive Purkinje neuron degeneration in the cerebella
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• cortical projection neurons show a severe decrease in total dendritic length, and fewer intersections in concentric circles of increasing radius indicating a branching defect
|
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• cortical neurons show reduced spine density along dendrites
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• apical progenitors in the ventricular zone, intermediate progenitors in the sub-ventricular zone and post-mitotic neurons comprising the cortical plate are all reduced in number at E14.5
|
muscle
cellular
|
• reduction in post-mitotic neurons relative to apical progenitors and a decreased number of newborn intermediate progenitors, suggests a failure of apical progenitors to switch towards neuron generation
• a greater proportion of neural progenitors exit the cell cycle in the brains of embryos compared to control embryos
• neural progenitors isolated from developing cortices form fewer neurospheres and smaller neural neurospheres, indicating reduced self-renewal capacity
|
Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| autism spectrum disorder | DOID:0060041 | J:306113 | ||
| intellectual disability | DOID:1059 | J:306113 | ||
