Overexpression of a mutant form of TGFBI/BIGH3 induces retinal degeneration in transgenic mice

Purpose: Despite ubiquitous expression of the keratoepithelin (KE) protein encoded by the transforming growth factor beta induced/beta induced gene human clone 3 (TGFBI/BIGH3) gene, corneal dystrophies are restricted to the cornea, and no other tissues are affected. We investigated the role of TGFBI/BIGH3 in Groenouw corneal dystrophies by generating transgenic mice overexpressing TGFBI/BIGH3 containing the R555W mutation.


Published in:
Molecular Vision, 14, 1129-1137
Year:
2008
Keywords:
Laboratories:




 Record created 2010-11-30, last modified 2018-09-13


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