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Brca2tm1Kamc
Targeted Allele Detail
Summary
Symbol: Brca2tm1Kamc
Name: breast cancer 2, early onset; targeted mutation 1, Kimberly A McAllister
MGI ID: MGI:2448890
Synonyms: Brca2delta27
Gene: Brca2  Location: Chr5:150446095-150493794 bp, + strand  Genetic Position: Chr5, 89.52 cM
Alliance: Brca2tm1Kamc page
Mutation
origin
Germline Transmission:  Earliest citation of germline transmission: J:75026
Parent Cell Line:  BK4 (ES Cell)
Strain of Origin:  129P2/OlaHsd
Mutation
description
Allele Type:    Targeted (Null/knockout)
Mutations:    Insertion, Intragenic deletion
 
Mutation detailsLoxP sites flanking exon 27 and a PGK-neo cassette were introduced via homologous recombination. Exon 27 was deleted in correctly targeted ES cells by transient expression of cre-recombinase. This exon encodes the C-terminal domain, which interacts with Rad51, contains a nuclear localization signal, and is required for maintenence of genomic stability in the event of DNA damage. RT-PCR analysis of testes RNA from mutant animals using exon 27-specific primers did not detect transcripts. However, authors were unable to confirm absence of protein expression because antibodies specific to this protein are currently not available. (J:75026)
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: 4 anatomical structure(s)
Tumor Data
List all tumor models in MMHCdb carrying Brca2tm1Kamc
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 Brca2 Mutation:  132 strains or lines available
References
Original:  J:75026 McAllister KA, et al., Cancer susceptibility of mice with a homozygous deletion in the COOH-terminal domain of the Brca2 gene. Cancer Res. 2002 Feb 15;62(4):990-4
All:  13 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