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Inherited mutations in the BRCA2 gene predispose women to breast and ovarian cancer. We created a mutation in the mouse Brca2 gene that terminates translation in exon 11 at 45% of the normal transcript length. Ninety % of Brca2(tm1Cam) homozygous mutant mice die prenatally or perinatally. The location of the Brca2(tm1Cam) mutation differs from those reported previously, and this phenotype suggests a correlation with genotype analogous to that previously reported in humans. Although heterozygote mice have remained free of tumors for 10 months, Brca2(tm1Cam) homozygous mutants that survived to adulthood died with thymic lymphomas between 12 and 14 weeks of age.

Type

Journal article

Journal

Cancer Res

Publication Date

01/04/1998

Volume

58

Pages

1338 - 1343

Keywords

Alleles, Animals, BRCA2 Protein, Exons, Genotype, Homozygote, Humans, Lymphoma, Mice, Mice, Inbred C57BL, Mutation, Neoplasm Proteins, Phenotype, Thymus Gland, Transcription Factors