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Brca1tm5.1Cxd
Targeted Allele Detail
Summary
Symbol: Brca1tm5.1Cxd
Name: breast cancer 1, early onset; targeted mutation 5.1, Chu-Xia Deng
MGI ID: MGI:4418211
Synonyms: Brca1S1152A
Gene: Brca1  Location: Chr11:101379590-101442781 bp, - strand  Genetic Position: Chr11, 65.18 cM, cytoband D
Alliance: Brca1tm5.1Cxd page
Mutation
origin
Germline Transmission:  Earliest citation of germline transmission: J:155810
Parent Cell Line:  TC1/TC-1 (ES Cell)
Strain of Origin:  129S6/SvEvTac
Mutation
description
Allele Type:    Targeted (Not Specified)
Mutations:    Insertion, Nucleotide substitutions
 
Mutation detailsA serine to alanine substitution at amino acid 1152 (S1152A) was introduced into exon 11 and a floxed neo cassette was inserted upstream of exon 11 via homologous recombination. Mating with mice expressing cre recombinase in the germ line excised the floxed neo. This allele results in a mutation of the ataxia telangiectasia mutated homolog (ATM) phosphorylation site. Western blot analysis indicated that mutant protein was expressed at levels similar to those of wild type. (J:155810)
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Expression
In Structures Affected by this Mutation: 8 anatomical structure(s)
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 Brca1 Mutation:  114 strains or lines available
References
Original:  J:155810 Kim SS, et al., Impaired skin and mammary gland development and increased gamma-irradiation-induced tumorigenesis in mice carrying a mutation of S1152-ATM phosphorylation site in Brca1. Cancer Res. 2009 Dec 15;69(24):9291-300
All:  1 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