Mouse Genome Informatics
cx
    Smarcb1tm1Sho/Smarcb1+
Tg(LPV-TAg121)2Tvd/0

involves: 129S6/SvEvTac * C57BL/6J * DBA/2J
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
       
tumorigenesis
• 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
• 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
OMIM IDRef(s)
Papilloma of Choroid Plexus; CPP 260500 J:120820
Rhabdoid Tumor Predisposition Syndrome 1; RTPS1 609322 J:120820