CAUSAL GENE OF OPHTHALMIC CUTANEOUS ALBINISM 1B AND ITS APPLICATION

摘要

PROBLEM TO BE SOLVED: To not only establish a model animal of ophthalmic cutaneous albinism(OCA) 1B but also provide a method for treating OCA 1B and clarify the relevance between pigmentation on the retina and visual function. ;SOLUTION: These purposes are achieved by obtaining a mutant tyrosinase in which 262nd leucine is mutated to proline, a gene encoding it, its fragment, a stable expression cell strain and a transgenic animal obtained by transducing the gene and an agent for detecting or diagnosing it. The mutant tyrosinase causes the crisis of OCA 1B and is useful in the treatment, prophylaxis or diagnosis of OCA. Further, the gene is useful for preparing the model animal of OCA and also helpful to investigate the relationship between pigmentation on the retinal pigment cell layer (RPE) or the choroid and visual function by the use of the transgenic animal or a cardiomyopathy hamster(CM hamster).;COPYRIGHT: (C)2001,JPO