Phenotypes associated with this allele

• Allele Symbol: Smarcb1⁺
• Allele Name: wild type
• Allele ID: MGI:2437274
• Summary: 11 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
ht1	Smarcb1^tm1b(EUCOMM)Hmgu/Smarcb1^+	C57BL/6N-Smarcb1^tm1b(EUCOMM)Hmgu/Bay	MGI:6288735
ht2	Smarcb1^Gt(OST32815)Lex/Smarcb1^+	either: (involves: 129 * 129S5/SvEvBrd) or (involves: 129S5/SvEvBrd * C57BL/6)	MGI:3035818
ht3	Smarcb1^tm1Mya/Smarcb1^+	involves: 129S2/SvPas * C57BL/6	MGI:3035912
ht4	Smarcb1^tm1Sho/Smarcb1^+	involves: 129S6/SvEvTac * C57BL/6	MGI:3035829
ht5	Smarcb1^tm1Sho/Smarcb1^+	involves: 129S6/SvEvTac * C57BL/6J * DBA/2J	MGI:5538531
ht6	Smarcb1^tm1Gvk/Smarcb1^+	involves: 129/Sv * C57BL/6J * SJL/J	MGI:3603680
cn7	Smarcb1^tm2Sho/Smarcb1^+ Trp53^tm1Brn/Trp53^tm1Brn Tg(GFAP-cre)#Gtm/0	involves: 129P2/OlaHsd * 129S1/Sv * C57BL/6 * CBA	MGI:5771803
cn8	Smarcb1^tm2Sho/Smarcb1^+ Trp53^tm1Brn/Trp53^+ Tg(GFAP-cre)#Gtm/0	involves: 129P2/OlaHsd * 129S1/Sv * C57BL/6 * CBA	MGI:5771802
cn9	Smarcb1^tm2Sho/Smarcb1^+ Tg(Nes-cre)1Kln/0	involves: 129S1/Sv * C57BL/6 * SJL	MGI:5771800
cx10	Smarcb1^tm1Sho/Smarcb1^+ Tg(LPV-TAg121)2Tvd/0	involves: 129S6/SvEvTac * C57BL/6J * DBA/2J	MGI:5538529
cx11	Ccnd1^tm1Wbg/Ccnd1^tm1Wbg Smarcb1^tm1Gvk/Smarcb1^+	involves: 129/Sv * 129S2/SvPas * C57BL/6J * SJL/J	MGI:3603679

Genotype
MGI:6288735

ht1

• Allelic Composition: Smarcb1^{tm1b(EUCOMM)Hmgu}/Smarcb1⁺
• Genetic Background: C57BL/6N-Smarcb1^{tm1b(EUCOMM)Hmgu}/Bay
• Cell Lines: HEPD0744_6_B09

Data Sources

IMPC Data for Smarcb1

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

hematopoietic system

decreased leukocyte cell number ( J:211773 )

IMPC - BCM

homeostasis/metabolism

decreased circulating alkaline phosphatase level ( J:211773 )

IMPC - BCM

decreased circulating total protein level ( J:211773 )

IMPC - BCM

immune system

decreased leukocyte cell number ( J:211773 )

IMPC - BCM

integument

abnormal coat appearance ( J:211773 )

♂

IMPC - BCM

abnormal skin coloration ( J:211773 )

♂

IMPC - BCM

nervous system

decreased prepulse inhibition ( J:211773 )

♀

IMPC - BCM

Genotype
MGI:3035818

ht2

• Allelic Composition: Smarcb1^{Gt(OST32815)Lex}/Smarcb1⁺
• Genetic Background: either: (involves: 129 * 129S5/SvEvBrd) or (involves: 129S5/SvEvBrd * C57BL/6)

neoplasm

increased tumor incidence ( J:69009 , J:87955 )

• 15% of heterozygous mice develop tumors; primarily these are located on the head and neck; the majority of these tumors were poorly differentiated sarcomas with variable rhabdoid features (J:69009)

Genotype
MGI:3035912

ht3

• Allelic Composition: Smarcb1^tm1Mya/Smarcb1⁺
• Genetic Background: involves: 129S2/SvPas * C57BL/6

neoplasm

increased sarcoma incidence ( J:68501 )

• 32% of heterozygous mice developed tumors by the age of 15 months; primarily these are located in intracranial and paravertebral sites; the majority of these tumors were poorly differentiated sarcomas with variable rhabdoid features

Genotype
MGI:3035829

ht4

• 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

ht5

• 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:3603680

ht6

• Allelic Composition: Smarcb1^tm1Gvk/Smarcb1⁺
• Genetic Background: involves: 129/Sv * C57BL/6J * SJL/J

Smarcb1^tm1Gvk/Smarcb1⁺ mice develop tumors that overexpress Cyclin D1

neoplasm

increased tumor incidence ( J:101185 )

• approximately 26% develop spontaneous face and brain tumors that are rhabdoid tumors although histopathologically classified as primary brain tumors, undifferentiated sarcomas, ganglioneuromas, or neuroblastomas

• a small percentage develop tumors in the hind limb

• early onset of tumors begins at 3 months of age and the median age of onset is approximately 11 months

• immunohisotchemistry shows these tumors have vimentin, smooth muscle actin, and cyclin D1 but not SMARCB1

increased facial tumor incidence ( J:101185 )

increased blastoma incidence ( J:101185 )

increased brain tumor incidence ( J:101185 )

nervous system

increased brain tumor incidence ( J:101185 )

craniofacial

increased facial tumor incidence ( J:101185 )

growth/size/body

increased facial tumor incidence ( J:101185 )

Genotype
MGI:5771803

cn7

• Allelic Composition: Smarcb1^tm2Sho/Smarcb1⁺; Trp53^tm1Brn/Trp53^tm1Brn; Tg(GFAP-cre)#Gtm/0
• Genetic Background: involves: 129P2/OlaHsd * 129S1/Sv * C57BL/6 * CBA

behavior/neurological

excessive scratching ( J:226786 )

• excessive scratching behavior resulting in dermatitis around the neck, earlobes, and the flank region

Genotype
MGI:5771802

cn8

• Allelic Composition: Smarcb1^tm2Sho/Smarcb1⁺; Trp53^tm1Brn/Trp53⁺; Tg(GFAP-cre)#Gtm/0
• Genetic Background: involves: 129P2/OlaHsd * 129S1/Sv * C57BL/6 * CBA

behavior/neurological

excessive scratching ( J:226786 )

• excessive scratching behavior resulting in dermatitis around the neck, earlobes, and the flank region

Genotype
MGI:5771800

cn9

• Allelic Composition: Smarcb1^tm2Sho/Smarcb1⁺; Tg(Nes-cre)1Kln/0
• Genetic Background: involves: 129S1/Sv * C57BL/6 * SJL

mortality/aging

prenatal lethality, incomplete penetrance ( J:226786 )

• most embryos die in utero

reproductive system

decreased litter size ( J:226786 )

Genotype
MGI:5538529

cx10

• 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

Genotype
MGI:3603679

cx11

• Allelic Composition: Ccnd1^tm1Wbg/Ccnd1^tm1Wbg; Smarcb1^tm1Gvk/Smarcb1⁺
• Genetic Background: involves: 129/Sv * 129S2/SvPas * C57BL/6J * SJL/J

neoplasm

decreased tumor incidence ( J:101185 )

• absence of cyclin D1 blocks the rhabdoid tumor development normally found in Smarcb1 heterozygotes

vision/eye

abnormal eye development ( J:101185 )

• minor retinal developmental defects

growth/size/body

decreased body size ( J:101185 )

nervous system

abnormal nervous system development ( J:101185 )

• minor neurological developmental defects