PITX2 gain-of-function in Axenfeld-Rieger eye model.
The Axenfeld-Rieger syndrome is autosomal dominant and affects the development of eyes, teeth, and gut. The eyemanifestations include cloudy corneas, tearing, glaucoma, iris hypoplasia, irido-corneal adhesion, and occasionallymegalocornea. Mutations have been found in the genes for transcription factors PITX2 and FOXC1. Mice homozygousfor disruption of PITX2 are embryonic lethal from heart malform
