Article
Analysis of ocular hypopigmentation in Rab38cht/cht mice.
Investigative ophthalmology & visual science - 1 Sept 2007
Brooks Brian P, Larson Denise M, Chan Chi-Chao, Kjellstrom Sten, Smith Richard S, Crawford Mary A, Lamoreux Lynn, Huizing Marjan, Hess Richard, Jiao Xiaodong, Hejtmancik J Fielding, Maminishkis Arvydas, John Simon W M, Bush Ronald, Pavan William J
Abstract excerpt
PURPOSE: To characterize the ocular phenotype resulting from mutation of Rab38, a candidate gene for Hermansky-Pudlak syndrome. METHODS: Chocolate mice (cht, Rab38(cht/cht)) and control heterozygous (Rab38(cht/)(+)) and wild-type mice were examined clinically, histologically, ultrastructurally, and electrophysiologically. Mice homozygous for both the Rab38(cht) and the Tyrp1(b) alleles were similarly examined....
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