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Phenotypes Associated with This Genotype
Genotype
MGI:5771805
Allelic
Composition
Smarcb1tm2Sho/Smarcb1tm2Sho
Trp53tm1Brn/Trp53tm1Brn
Tg(GFAP-cre)#Gtm/0
Genetic
Background
involves: 129P2/OlaHsd * 129S1/Sv * C57BL/6 * CBA
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Smarcb1tm2Sho mutation (0 available); any Smarcb1 mutation (19 available)
Tg(GFAP-cre)#Gtm mutation (0 available)
Trp53tm1Brn mutation (17 available); any Trp53 mutation (210 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
behavior/neurological
• many mice appear lethargic with hind limb paralysis
• severe scratching behavior
• mice exhibit intermittent episodes of tail extension and dystonic posturing of the body, frequently in response to handling
• motor coordination problems become evident from around 3 weeks of age
• abnormal posture of the hind limbs
• 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
• severe ataxia
• mice exhibit a non-uniform gait, with uneven stride length and width, dragging of the hindpaws and an inability to keep the hindquarters upr
• uneven stride length
• many mice appear lethargic with hind limb paralysis
• 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

cellular
• altered cerebellar granule neuron migration is already seen at 3 weeks of age
• altered granule neuron migration, with some granule neurons failing to migrate out of the external germinal layer, others remaining trapped in the molecular layer

growth/size/body
• body weight is reduced by about 40%

mortality/aging
• mice require water gel for survival

muscle
• mice exhibit intermittent episodes of tail extension and dystonic posturing of the body, frequently in response to handling

neoplasm
• 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

nervous system
• 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
• 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
• 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
• 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
• defects in the corpus callosum
• lesions in the corpus callosum are already seen at 3 weeks of age
• defects in the hippocampus
• reduced cerebral cortex is already seen at 3 weeks of age
• defects in the cytoarchitecture of the cerebellum
• progressive loss of cells and neuronal projections in the cerebellum
• the boundary between the internal granule layer and the molecular layer remains diffuse
• loss of oligodendrocytes with age
• high level of gliosis in the fiber tracks and in the molecular layer and in the remnants of the external germinal layer

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
central nervous system cancer DOID:3620 J:226786


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB), Gene Ontology (GO)
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last database update
09/27/2022
MGI 6.21
The Jackson Laboratory