Phenotypes Associated with This Genotype

Genotype
MGI:5538531

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

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

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	OMIM:609322	J:120820