Smarcb1^tm2Sho
Targeted Allele Detail

Summary

• Symbol: Smarcb1^tm2Sho
• Name: SWI/SNF related BAF chromatin remodeling complex subunit B1; targeted mutation 2, Stuart Orkin
• MGI ID: MGI:2447707
• Synonyms: Snf5^floxed
• Gene: Smarcb1 Location: Chr10:75732603-75757448 bp, - strand Genetic Position: Chr10, 38.61 cM
• Alliance: Smarcb1^tm2Sho page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:80224
• Parent Cell Line: CJ7 (ES Cell)
• Strain of Origin: 129S1/Sv-Oca2⁺ Tyr⁺ Kitl⁺

Mutation description

• Allele Type: Targeted (Conditional ready, No functional change)
• Mutation: Insertion
• Mutation details: A loxP-flanked neomycin selection cassette was inserted into intron 1 and a single loxP site in the same orientation was inserted 0.8 kb upstream of exon 1. The neomycin selection cassette was removed by transient Cre expression in ES cells, leaving loxP sites flanking exon 1 in the final allele. Upon Cre-mediated recombination, exon 1 and flanking sequences are deleted. (J:80224)

Disease models

Expression

In Mice Carrying this Mutation:	1 RNA-Seq or microarray experiment(s)
In Structures Affected by this Mutation:	5 anatomical structure(s)

Tumor Data

List all tumor models in MMHCdb carrying Smarcb1^tm2Sho

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 0 strains available Cell Lines: 0 lines available
• Carrying any Smarcb1 Mutation: 22 strains or lines available

Notes

Phenotypic Similarity to Human Syndrome: Atypical Teratoid/Rhabdoid Tumor of the Central Nervous System (Malignant Rhabdoid Tumors) J:226786 in double homozygous Smarcb1 and Trp53 conditional (Tg(GFAP-cre)#Gtm) mutants.

References

• Original: J:80224 Roberts CW, et al., Highly penetrant, rapid tumorigenesis through conditional inversion of the tumor suppressor gene Snf5. Cancer Cell. 2002 Nov;2(5):415-25
• All: 12 reference(s)