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

1)构建了ADAR1 P150亚型特异性基因敲除小鼠，并对杂合子小鼠进行了表型研究。(2)将SCF-转基因(TG)小鼠与P150-ADAR1-KO小鼠杂交，建立了表皮存在黑素细胞的SCF-TG/P150-ADAR1-KO小鼠作为DSH模型小鼠的候选模型。鉴定了遗传性对称性色素异常症引起的ADAR1基因的8个新突变。

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.