Phenotypes Associated with This Genotype

Genotype
MGI:5538529

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

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

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