Elucidation of pathogenesis of DSH with the model mouse that melanocyte is distributed in epidermis

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1）ADAR1 p150 isoform specific knockout mice were constructed and the investigation of phenotype of the heterozygous mice was done.（2）The SCF-transgenic (Tg) mouse and p150-Adar1-KO mouse were crossbred and the SCF-Tg/p150-Adar1-KO mouse that melanocyte was present in the epidermis was manufactured as a candidate of DSH model mouse. The phenotype of the mouse was examined.（3）Eight novel mutations in ADAR1 which caused in Dyschromatosis symmetrica hereditaria were identified.