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Smarca2tm1Mya
Targeted Allele Detail
Summary
Symbol: Smarca2tm1Mya
Name: SWI/SNF related BAF chromatin remodeling complex subunit ATPase 2; targeted mutation 1, Moshe Yaniv
MGI ID: MGI:2387988
Synonyms: BRM-
Gene: Smarca2  Location: Chr19:26582578-26755721 bp, + strand  Genetic Position: Chr19, 21.17 cM, cytoband C1
Alliance: Smarca2tm1Mya page
Mutation
origin
Germline Transmission:  Earliest citation of germline transmission: J:51536
Parent Cell Line:  CK35 (ES Cell)
Strain of Origin:  129S2/SvPas
Mutation
description
Allele Type:    Targeted (Null/knockout)
Mutations:    Insertion, Intragenic deletion
 
Mutation detailsThe majority of the exon encoding amino acids 120-176 was replaced with a neomycin resistance cassette via homologous recombination. RT-PCR analysis of liver RNA from homozygous mutant animals revealed a faint truncated transcript resulting from an alternative splice product which skips the disrupted exon. Western blot analysis of brain nuclear extracts detected a shortened protein product expressed at less than 1% the amount of wild-type protein. Co-immunoprecipitation experiments showed that the mutant protein lacked functional capabilities. (J:51536)
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Expression
In Mice Carrying this Mutation: 64 assay results
In Structures Affected by this Mutation: 2 anatomical structure(s)
Tumor Data
List all tumor models in MMHCdb carrying Smarca2tm1Mya
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 Smarca2 Mutation:  90 strains or lines available
References
Original:  J:51536 Reyes JC, et al., Altered control of cellular proliferation in the absence of mammalian brahma (SNF2alpha). EMBO J. 1998 Dec 1;17(23):6979-91
All:  18 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
11/12/2024
MGI 6.24
The Jackson Laboratory