Phenotypes associated with this allele
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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)
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mortality/aging
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• embryos die prior to E7.5
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Allelic Composition |
Smarcb1tm1Sho/Smarcb1+
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Genetic Background |
involves: 129S6/SvEvTac * C57BL/6 |
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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)
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neoplasm
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• 8 of 125 heterozygous mice developed aggressive tumors; primarily these are located in tissues derived from the first branchial arch (head and neck); the majority of these tumors were of a rhabdoid type
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Allelic Composition |
Smarcb1tm1Sho/Smarcb1+
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Genetic Background |
involves: 129S6/SvEvTac * C57BL/6J * DBA/2J |
|
Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Smarcb1tm1Sho mutation
(0 available);
any
Smarcb1 mutation
(22 available)
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mortality/aging
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• 24% of mutants become terminal with malignant rhabdoid tumors within 8 to 10 months of age at a median age of 8.2 months
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neoplasm
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• mice develop malignant rhabdoid tumors, with a median latency of 8 and 10 months of age for spinal cord and soft tissue tumors, respectively
• malignant rhabdoid tumors present as soft tissue tumors mostly on the face and limbs (20%) with occasional paravertebral sites close to the distal end of spinal cord (4%)
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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:
Smarcb1tm1Sho mutation
(0 available);
any
Smarcb1 mutation
(22 available)
Smarcb1tm3Sho mutation
(1 available);
any
Smarcb1 mutation
(22 available)
Tg(Mx1-cre)1Cgn mutation
(7 available)
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neoplasm
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• mice normal for about 4 weeks after polyI/polyC injection
• begin to develop cancers after 4 weeks
• 100% develop tumors with a median onset of 11 weeks after polyI/polyC injection
• sometimes an increase in circulating tumor cells
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• 3 out of 23 mice with rhabdoid tumors
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• periportal lymphoma in the liver
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• 20 of 23 mice have CD8+ T cell lymphomas
• tumor cell types suggestive of malignant lymphocytes
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immune system
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• increase in circulating eosinophiles
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• effacement of normal architecture
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• effacement of the normal architecture of involved lymph nodes
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hematopoietic system
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• often a mild and progressive decrease in blood cell counts
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• increase in circulating eosinophiles
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• effacement of normal architecture
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liver/biliary system
cellular
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• in liver and spleen 18-24 hours after polyI/polyC injection
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endocrine/exocrine glands
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• 20 of 23 mice have CD8+ T cell lymphomas
• tumor cell types suggestive of malignant lymphocytes
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growth/size/body
muscle
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• 3 out of 23 mice with rhabdoid tumors
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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)
Smarcb1tm3Sho mutation
(1 available);
any
Smarcb1 mutation
(22 available)
Tg(Gata1-cre)1Sho mutation
(2 available)
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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)
Tg(LPV-TAg121)2Tvd mutation
(1 available)
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neoplasm
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• malignant rhabdoid tumors develop with increased frequency (55%) and reduced latency (median, 4.9 months) compared to single Smarcb1 heterozygotes
• both soft tissue and CNS tumor frequencies increase (32% and 24%, respectively)
• 44% of malignant rhabdoid tumors are located around the roots or spinal nerves within the spinal cord, most frequently near the thoracolumbar junction with a median age of 5.2 months
• malignant rhabdoid tumors have a more than a 4-fold increase in mitotic index compared with single Smarcb1 heterozygotes
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• 100% penetrance of choroid plexus carcinomas, with a median latency of 9 months, similar to single Tg(LPV-TAg121)2Tvd mice
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