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Smarcb1tm2Sho
Targeted Allele Detail
Nomenclature
Symbol: Smarcb1tm2Sho
Name: SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1; targeted mutation 2, Stuart Orkin
MGI ID: MGI:2447707
Synonyms: Snf5floxed
Gene: Smarcb1  Location: Chr10:75896769-75921614 bp, - strand  Genetic Position: Chr10, 38.61 cM
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 detailsA 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)
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Disease models
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Expression
In Structures Affected by this Mutation: 5 anatomical structures
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:  7 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:  7 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB), Gene Ontology (GO)
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last database update
10/15/2019
MGI 6.14
The Jackson Laboratory