Effects of aberrant Pax6 gene dosage on mouse corneal pathophysiology and corneal epithelial homeostasis

Richard L Mort, Adam J Bentley, Francis L Martin, J Martin Collinson, Panagiotis Douvaras, Robert E Hill, Steven D Morley, Nigel J Fullwood, John D West

Research output: Contribution to journalArticlepeer-review

Abstract

Altered dosage of the transcription factor PAX6 causes multiple human eye pathophysiologies. PAX6⁺/⁻ heterozygotes suffer from aniridia and aniridia-related keratopathy (ARK), a corneal deterioration that probably involves a limbal epithelial stem cell (LESC) deficiency. Heterozygous Pax6(+/Sey-Neu) (Pax6⁺/⁻) mice recapitulate the human disease and are a good model of ARK. Corneal pathologies also occur in other mouse Pax6 mutants and in PAX77(Tg/-) transgenics, which over-express Pax6 and model human PAX6 duplication.
Original languageEnglish
Article numbere28895
JournalPLoS ONE
Volume6
Issue number12
DOIs
Publication statusPublished - 2011

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