Bloom Syndrome is a disease caused by mutations in the BLM gene, a human homologue of the E. coli RecQ DNA helicase. The clinical manifestations of this disease include small size, immune deficiency, genetic instability and a predisposition to a wide range of cancers. The inventors have generated a mouse model of Bloom Syndrome which has a mutation in the mouse BLM gene.
Homozygous mice are normal in size, are fertile and display increased chromatid exchange.
Tumor incidence in mice with tumor suppressor mutations is greatly elevated in this background. The low background frequency of tumors in these mice makes them particularly useful for studying cancer susceptibility and progression.