Embryonic stem cells and mouse models of human syndromes: examples from the T-box gene family.

Synergism between the fields of reproduction and development has long been an important factor for advances in each field, and the development of gene modification technology in mammals has progressed hand in hand with advances in reproductive technology. The discovery and exploitation of embryonic stem cells for producing targeted gene mutations in the mouse, combined with advances in genome analysis, has provided a means of producing mouse models of human genetic diseases, including congenital defects. This review presents examples of how gene targeting and reproductive biology techniques are being applied to the production of mouse models for specific human developmental syndromes caused by mutations in genes of the T-box transcription factor gene family. The ulnar-mammary syndrome and the DiGeorge syndrome are two developmental syndromes that are currently being explored in this way.