Key result
Genetically engineered mouse models, developed via transgenesis and gene targeting, are valuable tools for understanding the pathogenesis of hypertrophic cardiomyopathy and exploring new therapies.
This review outlines the methodologies for creating genetically engineered mouse models and highlights their utility in studying hypertrophic cardiomyopathy.
Mouse models support preclinical hypertrophic cardiomyopathy research; leaves open clinical translation pending human validation.
The first half of this unit discusses the two main approaches to developing genetically engineered mouse models of human disease (i.e., transgenesis and gene targeting). The experimental steps for each method are discussed. Potential pitfalls, advantages, and limitations are also addressed. The second half of the unit describes two mouse models of hypertrophic cardiomyopathy, which illustrate the value of studying such models of human disease, both in terms of understanding disease pathogenesis as well as potential new therapeutic avenues. Curr. Protoc. Hum. Genet. 60:15.2.1‐15.2.10.
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Christopher Semsarian (2009) conducted a review in Hypertrophic cardiomyopathy. Genetically engineered mouse models was evaluated. Genetically engineered mouse models, developed via transgenesis and gene targeting, are valuable tools for understanding the pathogenesis of hypertrophic cardiomyopathy and exploring new therapies.
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