Article
Ocular pathology relevant to glaucoma in a Gja1(Jrt/+) mouse model of human oculodentodigital dysplasia.
Investigative ophthalmology & visual science - 1 Jun 2011
Tsui Edmund, Hill Kathleen A, Laliberte Alex M, Paluzzi Daniel, Kisilevsky Ilia, Shao Qing, Heathcote J Godfrey, Laird Dale W, Kidder Gerald M, Hutnik Cindy M L
Abstract excerpt
PURPOSE: Oculodentodigital dysplasia (ODDD) is a human disorder caused by mutations in the gap junction alpha 1 (GJA1) gene encoding the connexin43 (Cx43) gap junction protein. Causal links between GJA1 mutations and glaucoma are not understood. The purpose in this study was to examine the ocular phenotype for Gja1(Jrt/+) mice harboring a Cx43 G60S mutation. METHODS; In young Gja1(Jrt/+) mice, Cx43 abundance was...
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