Abstract
Hirschsprung's disease (HSCR) is caused by incomplete colonization of enteric neural
crest-derived cell (ENCC) in the bowel, the failure of ENCCs to proliferate, differentiate,
and migrate leads to an absence of enteric neurons in the distal colon, resulting
in colonic motility dysfunction. Various animal models of HSCR have been important
in the understanding of the anatomy and pathophysiology of the disease and in the
discovery of genes involved in HSCR. Four types of HSCR animal models have been developed:
teratogen-induced, surgically created, naturally occurring models, and knockout models.
Mutations in several genes affect enteric nervous system (ENS) development and can
have pleiotropic effects on this system. Furthermore, certain animal models are informative
regarding how such molecules control the development and functional differentiation
of the ENS. In this article, we summarize recent advances in this field and highlight
opportunities for new discoveries.
Keywords
animal models - Hirschsprung's disease - enteric nervous system - aganglionosis
