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Brca1tm2Rjbr
Targeted Allele Detail
Summary
Symbol: Brca1tm2Rjbr
Name: breast cancer 1, early onset; targeted mutation 2, Richard J Baer
MGI ID: MGI:5494434
Synonyms: Brca1S1598F, Brca1tm2.1Thl
Gene: Brca1  Location: Chr11:101379590-101442781 bp, - strand  Genetic Position: Chr11, 65.18 cM, cytoband D
Alliance: Brca1tm2Rjbr page
Mutation
origin
Germline Transmission:  Earliest citation of germline transmission: J:177853
Parent Cell Line:  KV1 (ES Cell)
Strain of Origin:  (C57BL/6J x 129S6/SvEvTac)F1
Mutation
description
Allele Type:    Targeted (Humanized sequence)
Mutations:    Insertion, Nucleotide substitutions
 
Mutation detailsExon 16 was replaced with one in which nucleotide substitution(s) result(s) in the amino acid substitution of phenylalanine for serine at position 1598 (S1598F). (J:177853, J:197744)
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Expression
In Structures Affected by this Mutation: 1 anatomical structure(s)
Find Mice (IMSR)
Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:  Mouse Strains: 1 strain available      Cell Lines: 0 lines available
Carrying any Brca1 Mutation:  113 strains or lines available
References
Original:  J:177853 Shakya R, et al., BRCA1 tumor suppression depends on BRCT phosphoprotein binding, but not its E3 ligase activity. Science. 2011 Oct 28;334(6055):525-8
All:  5 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
04/23/2024
MGI 6.23
The Jackson Laboratory