Phenotypes associated with this allele
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Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Smarcb1tm2Sho mutation
(0 available);
any
Smarcb1 mutation
(22 available)
Tg(GFAP-cre)#Gtm mutation
(0 available)
Trp53tm1Brn mutation
(18 available);
any
Trp53 mutation
(232 available)
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behavior/neurological
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• excessive scratching behavior resulting in dermatitis around the neck, earlobes, and the flank region
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Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Smarcb1tm2Sho mutation
(0 available);
any
Smarcb1 mutation
(22 available)
Tg(GFAP-cre)#Gtm mutation
(0 available)
Trp53tm1Brn mutation
(18 available);
any
Trp53 mutation
(232 available)
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behavior/neurological
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• excessive scratching behavior resulting in dermatitis around the neck, earlobes, and the flank region
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Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Smarcb1tm2Sho mutation
(0 available);
any
Smarcb1 mutation
(22 available)
Tg(GFAP-cre)#Gtm mutation
(0 available)
Trp53tm1Brn mutation
(18 available);
any
Trp53 mutation
(232 available)
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nervous system
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• lesions in the white matter of the corpus callosum and cingulum
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neoplasm
N |
• no neoplastic growth is seen in the brain
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Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Smarcb1tm2Sho mutation
(0 available);
any
Smarcb1 mutation
(22 available)
Tg(GFAP-cre)#Gtm mutation
(0 available)
Trp53tm1Brn mutation
(18 available);
any
Trp53 mutation
(232 available)
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behavior/neurological
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• many mice appear lethargic with hind limb paralysis
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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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• 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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Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Smarcb1tm1Sho mutation
(0 available);
any
Smarcb1 mutation
(22 available)
Smarcb1tm2Sho mutation
(0 available);
any
Smarcb1 mutation
(22 available)
Tg(Mx1-cre)1Cgn mutation
(7 available)
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mortality/aging
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• 90% mortality between 1 and 3 weeks after injection with polyI/polyC
• remaining mice die over the next 4 weeks
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hematopoietic system
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• deficiency of hematopoietic cells in the bone marrow
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• mice are ill and profoundly pancytopenic by weeks 1-2 after polyI/polyC injection
• some mice develop mild or transient pancytopenia but still experience sudden death
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cardiovascular system
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• extensive skin bruising
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digestive/alimentary system
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Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Smarcb1tm2Sho mutation
(0 available);
any
Smarcb1 mutation
(22 available)
Tg(GFAP-cre)#Gtm mutation
(0 available)
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nervous system
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• variable, mild defect in granule neuron migration
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• brain lesions that are prominent in the white matter of the corpus callosum with vacuolization, spongy changes, cystic-like breakdown and destruction of tissue
• extent of damage is variable and progresses with age
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• posterior portion of the corpus callosum is more affected than the anterior portion
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• disorganization of the Purkinje cell layer
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cellular
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• variable, mild defect in granule neuron migration
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neoplasm
N |
• mice do not develop brain tumors up to more than 1 year of age
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Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Smarcb1tm2Sho mutation
(0 available);
any
Smarcb1 mutation
(22 available)
Tg(Nes-cre)1Kln mutation
(4 available)
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mortality/aging
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• most embryos die in utero
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reproductive system
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Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Smarcb1tm2Sho mutation
(0 available);
any
Smarcb1 mutation
(22 available)
Tg(Nes-cre)1Kln mutation
(4 available)
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