Summary | Mutation origin | Mutation description | Expression | Phenotypes | Disease models | Tumor data | Find Mice (IMSR) | References

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

Germline Transmission:	Earliest citation of germline transmission: J:75026
Parent Cell Line:	BK4 (ES Cell)
Strain of Origin:	129P2/OlaHsd

Allele Type:    Targeted (Null/knockout) Mutations:    Insertion, Intragenic deletion   Mutation details: LoxP 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)

View phenotypes and curated references for all genotypes (concatenated display).

In Structures Affected by this Mutation:

4 anatomical structure(s)

List all tumor models in MMHCdb carrying Brca2tm1Kamc

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

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:	10 reference(s)