In Vitro Mutagenesis Protocols

Volume 634 of the series Methods in Molecular Biology pp 203-213


Approaches for Using Animal Models to Identify Loci That Genetically Interact with Human Disease-Causing Point Mutations

  • Josef D. FrankeAffiliated withDepartment of Biological Sciences, Carnegie Mellon University Email author 

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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 better understand the mechanism(s) which give(s) rise to the observed physiological effects. Importantly, these animals can also function as the basis for genetic modifier screens to discover other loci which contribute to an illness. This chapter discusses the theory, considerations, and methodology for performing genetic modifier screens in animal models for human disease.

Key words

Modifier screen Genetic interaction Model organism MYH9-related disorders