ABSTRACT
Genetics provides powerful tools for dissecting the function of ion channels in physiological contexts. The function of ion channels can be decoded by phenotype, by genetic engineering in animal models and through human channel variant–phenotype linkages. The evolution of our understanding of ion channel function has been stimulated by the development of genetically tractable model organisms (1970s), recombinant DNA technology and genetically modified mice (1980s), genome sequencing and annotation (late 1990s to early 2000s), human single-nucleotide polymorphism mapping (2000s), and gene editing (2010s). The resulting discoveries complemented biophysical studies of ion channel properties and revealed multifaceted interactions in vivo, including associations with more than 100 human disorders. This chapter covers widely used model organisms and transgenic methodologies and tools.
