Approaches for using animal models to identify loci that genetically interact with human disease-causing point mutations.

Abstract excerpt

The complexity of human illnesses often extends beyond a single mutation in one gene. Mutations at other loci may act synergistically to affect the penetrance and severity of the associated clinical manifestations. Discovering the additional loci that contribute to an illness is a challenging problem. Animal models for disease, based on engineered point mutations in a homologous gene, have proven invaluable to...

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