Animal models of aganglionosis

Abstract

Humans are not the only mammals to suffer from aganglionosis. Aganglionosis has also been described in mice, rats, horses, cats and dogs. Rodent animal models have contributed significantly to our understanding of Hirschsprung's disease (HSCR). Over the last decade, the understanding of the genetics and cell biology of the development of the enteric nervous system (ENS) has made great progress. Rodent animal models have shown many points of correlation with humans in regard to ENS development, both normal and abnormal. Nevertheless, the link between the genotype and the phenotype is often indirect, and so many questions have yet to be answered. This chapter deals with the characteristics of aganglionosis in rodents with emphasis on how knowledge of the animal models has contributed to our understanding of the genetics and pathogenesis of HSCR and allied disorders. © 2008 Springer-Verlag.