Mouse models for investigating the developmental basis of human birth defects.

Pediatric Research
Anne M Moon

Abstract

Clinicians and basic scientists share an interest in discovering how genetic or environmental factors interact to perturb normal development and cause birth defects and human disease. Given the complexity of such interactions, it is not surprising that 4% of human infants are born with a congenital malformation, and cardiovascular defects occur in nearly 1%. Our research is based on the fundamental hypothesis that an understanding of normal and abnormal development will permit us to generate effective strategies for both prevention and treatment of human birth defects. Animal models are invaluable in these efforts because they allow one to interrogate the genetic, molecular and cellular events that distinguish normal from abnormal development. Several features of the mouse make it a particularly powerful experimental model: it is a mammalian system with similar embryology, anatomy and physiology to humans; genes, proteins and regulatory programs are largely conserved between human and mouse; and finally, gene targeting in murine embryonic stem cells has made the mouse genome amenable to sophisticated genetic manipulation currently unavailable in any other model organism.

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Citations

Oct 28, 2008·Proceedings of the National Academy of Sciences of the United States of America·Jason NewbernGary E Landreth
Sep 23, 2010·Birth Defects Research. Part C, Embryo Today : Reviews·Kimimasa TobitaCecilia W Lo
Jan 25, 2012·Birth Defects Research. Part C, Embryo Today : Reviews·Gretchen J Mahler, Jonathan T Butcher
Oct 4, 2011·Current Opinion in Genetics & Development·Irina V LarinaMary E Dickinson

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Birth defects encompass structural and functional alterations that occur during embryonic or fetal development and are present since birth. The cause may be genetic, environmental or unknown and can result in physical and/or mental impairment. Here is the latest research on birth defects.