オルニチン・トランスカルバミラーゼ(OTC)欠損(spf・ash)マウスへのOTC遺伝子導入 Introduction of Rat Ornithine Transcarbamylase(OTC) Gene into OTC-deficient, spf-ash, Mice オルニチン・トラスカルバミラ-ゼ(OTC)欠損(spf・ash)マウスへのOTC遺伝子導入 オルニチン・トランスカルバミラーゼ (OTC) ケッソン (spf-ash) マウス エノ OTC イデンシ ドウニュウ

博士論文

The sparse fur with abnormal skin and hair (spf-ash) mouse is a model for the human X linked hereditary disease， ornithine transcarbamylase (OTC) deficiency. It is characterized by hyperammonemia， orotic aciduria， lower serum citrulline and arginine， and delayed hair growth， as noted from its name. Murakami et al. established transgenic mice， which tissue-specifically express rat OTC (rOTC) by introduction of the recombinant DNA carrying 1.3kb of the 5'-flanking region of the gene fused to the rat OTC cDNA into fertilized C57BL mouse eggs. We introduced the rOTC gene into spf-ash mice by mating spf-ash heterozygotes and transgenic mice carrying the rOTC gene. The hemizygous spf-ash mice carrying the rOTC gene showed twice and 6 times higher OTC activities in the liver and small intestine，respectively， than the spf-ash mice, but still about 12% and 27% of the controls. They revealed normal hair growth without sparse fur， normalized urinary orotic acid excretion and serum citrulline and arginine concentration.

医歯学総合研究科博士論文(医学) ; 学位取得日: 平成3年6月28日