Analysis of Ocular Hypopigmentation in Rab38cht/cht Mice

To characterize the ocular phenotype resulting from mutation of Rab38, a candidate gene for Hermansky-Pudlak syndrome. Chocolate mice (cht, Rab38(cht/cht)) and control heterozygous (Rab38(cht/)(+)) and wild-type mice were examined clinically, histologically, ultrastructurally, and electrophysiologic...

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Veröffentlicht in:	Investigative ophthalmology & visual science 2007-09, Vol.48 (9), p.3905-3913
Hauptverfasser:	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
Format:	Artikel
Sprache:	eng
Schlagworte:	Alleles Animals Blotting, Western Choroid Diseases - genetics Choroid Diseases - pathology Disease Models, Animal Electroretinography Female Gene Expression Regulation - physiology Hair Color Hermanski-Pudlak Syndrome - genetics Humans Iris Diseases - genetics Iris Diseases - pathology Male Melanosomes - ultrastructure Membrane Glycoproteins - genetics Mice Mice, Inbred C57BL Mice, Mutant Strains Oxidoreductases - genetics Phenotype Pigment Epithelium of Eye - ultrastructure Polymorphism, Single Nucleotide rab GTP-Binding Proteins - genetics Retinal Diseases - genetics Retinal Diseases - pathology
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