Phenotypes associated with this allele

• Allele Symbol: Smarcb1^tm1Gvk
• Allele Name: targeted mutation 1, Ganjam V Kalpana
• Allele ID: MGI:3603561
• Summary: 3 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Smarcb1^tm1Gvk/Smarcb1^tm1Gvk	involves: 129/Sv * C57BL/6J * SJL/J	MGI:3603677
ht2	Smarcb1^tm1Gvk/Smarcb1^+	involves: 129/Sv * C57BL/6J * SJL/J	MGI:3603680
cx3	Ccnd1^tm1Wbg/Ccnd1^tm1Wbg Smarcb1^tm1Gvk/Smarcb1^+	involves: 129/Sv * 129S2/SvPas * C57BL/6J * SJL/J	MGI:3603679

Genotype
MGI:3603677

hm1

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

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

mortality/aging

prenatal lethality, complete penetrance ( J:101185 )

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
atypical teratoid rhabdoid tumor		DOID:2129	OMIM:609322	J:101185

Genotype
MGI:3603680

ht2

• 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:3603679

cx3

• 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