What cardiovascular defect does my prenatal mouse mutant have, and why?

Simon J. Conway, Agnieszka Kruzynska-Frejtag, Paige L. Kneer, Michal Machnicki, Srinagesh V. Koushik

Research output: Contribution to journalReview articlepeer-review

119 Scopus citations

Abstract

Since the advent of mouse targeted mutations, gene traps, an escalating use of a variety of complex transgenic manipulations, and large-scale chemical mutagenesis projects yielding many mutants with cardiovascular defects, it has become increasingly evident that defects within the heart and vascular system are largely responsible for the observed in utero lethality of the embryo and early fetus. If a transgenically altered embryo survives implantation but fails to be born, it usually indicates that there is some form of lethal cardiovascular defect present. A number of embryonic organ and body systems, including the central nervous system, gut, lungs, urogenital system, and musculoskeletal system appear to have little or no survival value in utero (Copp, 1995). Cardiovascular abnormalities include the failure to establish an adequate yolk-sac vascular circulation, which results in early lethality (E8.5-10.5); poor cardiac function (E9.0-birth); failure to undergo correct looping and chamber formation of the primitive heart tube (E9.0-11.0); improper septation, including division of the common ventricle and atria and the establishment of a divided outflow tract (E11.0-13.0); inadequate establishment of the cardiac conduction system (E12.0-birth); and the failure of the in utero cardiovascular system to adapt to adult life (birth) and close the interatrial and aorta-pulmonary trunk shunts that are required for normal fetal life. Importantly, the developmental timing of lethality is usually a good indicator of both the type of the cardiovascular defect present and may also suggest the possible underlying cause/s. The purpose of this review is both to review the literature and to provide a beginner's guide for analysing cardiovascular defects in mouse mutants.

Original languageEnglish (US)
Pages (from-to)1-21
Number of pages21
JournalGenesis
Volume35
Issue number1
DOIs
StatePublished - Jan 1 2003

ASJC Scopus subject areas

  • Genetics
  • Endocrinology
  • Cell Biology

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