Probing Human Cardiovascular Congenital Disease Using Transgenic Mouse Models

Abstract

Congenital heart defects (CHDs) impact in utero embryonic viability, children, and surviving adults. Since the first transfer of genes into mice, transgenic mouse models have enabled researchers to experimentally study and genetically test the roles of genes in development, physiology, and disease progression. Transgenic mice have become a bona fide human CHD pathology model and their use has dramatically increased within the past two decades. Now that the entire mouse and human genomes are known, it is possible to knock out, mutate, misexpress, and/or replace every gene. Not only have transgenic mouse models changed our understanding of normal development, CHD processes, and the complex interactions of genes and pathways required during heart development, but they are also being used to identify new avenues for medical therapy.