Phenotypes associated with this allele

• Allele Symbol: Smarcb1^tm1Sho
• Allele Name: targeted mutation 1, Stuart Orkin
• Allele ID: MGI:1931875
• Summary: 7 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Smarcb1^tm1Sho/Smarcb1^tm1Sho	involves: 129S6/SvEvTac * C57BL/6	MGI:3035828
ht2	Smarcb1^tm1Sho/Smarcb1^+	involves: 129S6/SvEvTac * C57BL/6	MGI:3035829
ht3	Smarcb1^tm1Sho/Smarcb1^+	involves: 129S6/SvEvTac * C57BL/6J * DBA/2J	MGI:5538531
cn4	Smarcb1^tm1Sho/Smarcb1^tm2Sho Tg(Mx1-cre)1Cgn/?	involves: 129S1/Sv * 129S6/SvEvTac * C57BL/6 * CBA	MGI:3819384
cn5	Smarcb1^tm1Sho/Smarcb1^tm3Sho Tg(Mx1-cre)1Cgn/?	involves: 129S1/Sv * 129S6/SvEvTac * C57BL/6 * CBA	MGI:3819385
cn6	Smarcb1^tm1Sho/Smarcb1^tm3Sho Tg(Gata1-cre)1Sho/?	involves: 129S1/Sv * 129S6/SvEvTac * CD-1	MGI:3819386
cx7	Smarcb1^tm1Sho/Smarcb1^+ Tg(LPV-TAg121)2Tvd/0	involves: 129S6/SvEvTac * C57BL/6J * DBA/2J	MGI:5538529

Genotype
MGI:3035828

hm1

• Allelic Composition: Smarcb1^tm1Sho/Smarcb1^tm1Sho
• Genetic Background: involves: 129S6/SvEvTac * C57BL/6

• ♀: phenotype observed in females
• ♂: phenotype observed in males
• N: normal phenotype

mortality/aging

embryonic lethality between implantation and somite formation, complete penetrance ( J:66417 )

• embryos die prior to E7.5

Genotype
MGI:3035829

ht2

• Allelic Composition: Smarcb1^tm1Sho/Smarcb1⁺
• Genetic Background: involves: 129S6/SvEvTac * C57BL/6

neoplasm

increased tumor incidence ( J:66417 )

• 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

Genotype
MGI:5538531

ht3

• Allelic Composition: Smarcb1^tm1Sho/Smarcb1⁺
• Genetic Background: involves: 129S6/SvEvTac * C57BL/6J * DBA/2J

mortality/aging

decreased tumor-free survival time ( J:120820 )

• 24% of mutants become terminal with malignant rhabdoid tumors within 8 to 10 months of age at a median age of 8.2 months

neoplasm

increased malignant tumor incidence ( J:120820 )

• 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%)

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
atypical teratoid rhabdoid tumor		DOID:2129		J:120820

Genotype
MGI:3819384

cn4

• Allelic Composition: Smarcb1^tm1Sho/Smarcb1^tm2Sho; Tg(Mx1-cre)1Cgn/?
• Genetic Background: involves: 129S1/Sv * 129S6/SvEvTac * C57BL/6 * CBA

mortality/aging

premature death ( J:80224 )

• 90% mortality between 1 and 3 weeks after injection with polyI/polyC

• remaining mice die over the next 4 weeks

hematopoietic system

abnormal bone marrow cell morphology/development ( J:80224 )

• deficiency of hematopoietic cells in the bone marrow

pancytopenia ( J:80224 )

• 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

cardiovascular system

bruising ( J:80224 )

• extensive skin bruising

intestinal hemorrhage ( J:80224 )

digestive/alimentary system

intestinal hemorrhage ( J:80224 )

Genotype
MGI:3819385

cn5

• Allelic Composition: Smarcb1^tm1Sho/Smarcb1^tm3Sho; Tg(Mx1-cre)1Cgn/?
• Genetic Background: involves: 129S1/Sv * 129S6/SvEvTac * C57BL/6 * CBA

neoplasm

increased tumor incidence ( J:80224 )

• 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

increased rhabdomyoma incidence ( J:80224 )

• 3 out of 23 mice with rhabdoid tumors

increased lymphoma incidence ( J:80224 )

• periportal lymphoma in the liver

increased T cell derived lymphoma incidence ( J:80224 )

• 20 of 23 mice have CD8+ T cell lymphomas

• tumor cell types suggestive of malignant lymphocytes

immune system

increased T cell derived lymphoma incidence ( J:80224 )

• 20 of 23 mice have CD8+ T cell lymphomas

• tumor cell types suggestive of malignant lymphocytes

increased eosinophil cell number ( J:80224 )

• increase in circulating eosinophiles

abnormal spleen morphology ( J:80224 )

• effacement of normal architecture

enlarged spleen ( J:80224 )

• sometimes dramatically

abnormal lymph node morphology ( J:80224 )

• effacement of the normal architecture of involved lymph nodes

enlarged lymph nodes ( J:80224 )

hematopoietic system

increased T cell derived lymphoma incidence ( J:80224 )

• 20 of 23 mice have CD8+ T cell lymphomas

• tumor cell types suggestive of malignant lymphocytes

abnormal blood cell morphology/development ( J:80224 )

• often a mild and progressive decrease in blood cell counts

increased eosinophil cell number ( J:80224 )

• increase in circulating eosinophiles

abnormal spleen morphology ( J:80224 )

• effacement of normal architecture

enlarged spleen ( J:80224 )

• sometimes dramatically

liver/biliary system

abnormal liver morphology ( J:80224 )

• periportal lymphomas

enlarged liver ( J:80224 )

• sometimes dramatically

cellular

increased apoptosis ( J:80224 )

• in liver and spleen 18-24 hours after polyI/polyC injection

endocrine/exocrine glands

increased T cell derived lymphoma incidence ( J:80224 )

• 20 of 23 mice have CD8+ T cell lymphomas

• tumor cell types suggestive of malignant lymphocytes

growth/size/body

enlarged liver ( J:80224 )

• sometimes dramatically

enlarged spleen ( J:80224 )

• sometimes dramatically

muscle

increased rhabdomyoma incidence ( J:80224 )

• 3 out of 23 mice with rhabdoid tumors

Genotype
MGI:3819386

cn6

• Allelic Composition: Smarcb1^tm1Sho/Smarcb1^tm3Sho; Tg(Gata1-cre)1Sho/?
• Genetic Background: involves: 129S1/Sv * 129S6/SvEvTac * CD-1

mortality/aging

embryonic lethality ( J:80224 )

Genotype
MGI:5538529

cx7

• Allelic Composition: Smarcb1^tm1Sho/Smarcb1⁺; Tg(LPV-TAg121)2Tvd/0
• Genetic Background: involves: 129S6/SvEvTac * C57BL/6J * DBA/2J

neoplasm

increased malignant tumor incidence ( J:120820 )

• 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

increased carcinoma incidence ( J:120820 )

• 100% penetrance of choroid plexus carcinomas, with a median latency of 9 months, similar to single Tg(LPV-TAg121)2Tvd mice

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
atypical teratoid rhabdoid tumor		DOID:2129		J:120820
choroid plexus papilloma		DOID:2626	OMIM:260500	J:120820