Analysis Tools
behavior/neurological
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• severe scratching behavior
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• mice exhibit intermittent episodes of tail extension and dystonic posturing of the body, frequently in response to handling
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• motor coordination problems become evident from around 3 weeks of age
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• abnormal posture of the hind limbs
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• mice exhibit tumbling repeatedly during attempted locomotion; mice frequently fall over and repeatedly lift and replace the same paw in various positions during each stride
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• mice exhibit a non-uniform gait, with uneven stride length and width, dragging of the hindpaws and an inability to keep the hindquarters upr
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• uneven stride length
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• many mice appear lethargic with hind limb paralysis
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• mice exhibit clear seizures or intermittent electrographic seizures associated either with forelimb clonus, evolving into body jerking, and wild running or arrest of activity during the ictal EEG discharges
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cellular
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• altered granule neuron migration, with some granule neurons failing to migrate out of the external germinal layer, others remaining trapped in the molecular layer
• altered cerebellar granule neuron migration is already seen at 3 weeks of age
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growth/size/body
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• body weight is reduced by about 40%
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mortality/aging
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• mice require water gel for survival
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muscle
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• mice exhibit intermittent episodes of tail extension and dystonic posturing of the body, frequently in response to handling
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neoplasm
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• mice develop brain tumors starting at around 1 month of age
• mice that die suddenly exhibit presence of high-grade, aggressive tumors that infiltrate and obliterate the surrounding cerebellar folia
• tumors appear to arise from the cerebellum
• tumors show hallmarks of atypical teratoid/rhabdoid tumor of the central nervous system
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nervous system
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• mice exhibit clear seizures or intermittent electrographic seizures associated either with forelimb clonus, evolving into body jerking, and wild running or arrest of activity during the ictal EEG discharges
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• altered granule neuron migration, with some granule neurons failing to migrate out of the external germinal layer, others remaining trapped in the molecular layer
• altered cerebellar granule neuron migration is already seen at 3 weeks of age
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• mice develop brain tumors starting at around 1 month of age
• mice that die suddenly exhibit presence of high-grade, aggressive tumors that infiltrate and obliterate the surrounding cerebellar folia
• tumors appear to arise from the cerebellum
• tumors show hallmarks of atypical teratoid/rhabdoid tumor of the central nervous system
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• defects in white matter with complete loss of tissue in regions of white matter over time
• white matter fiber tracks are reduced
• loss of white matter is already seen at 3 weeks of age
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• defects in the corpus callosum
• lesions in the corpus callosum are already seen at 3 weeks of age
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• defects in the hippocampus
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• reduced cerebral cortex is already seen at 3 weeks of age
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• defects in the cytoarchitecture of the cerebellum
• progressive loss of cells and neuronal projections in the cerebellum
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• aberrant external germinal layer
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• the boundary between the internal granule layer and the molecular layer remains diffuse
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• loss of oligodendrocytes with age
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• high level of gliosis in the fiber tracks and in the molecular layer and in the remnants of the external germinal layer
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Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| central nervous system cancer | DOID:3620 | J:226786 | ||
