Correction of mouse ornithine transcarbamytase deficiency by gene transfer into the germ line

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Abstract
The sparse fur with abnormal skin and hair (Spf-ash) mouse is a model for the human X-linked hereditary disorder, ornithine transcarbamylase (OTC) deficiency. In Spf-ash mice, both OTC mRNA and enzyme activity are 5% of control values resulting in hyper- ammonemia, pronounced orotic aciduria and an abnormal phenotype characterized by growth retardation and sparse fur. Using micro-injection, we introduced a construction containing rat OTC cDNA linked to the SV4O early promoter into fertilized eggs of Spf-ash mice. The expression of the transgene resulted in the development of a transgenic mouse whose phenotype and orotic acid excretion are fully normalized. Thus, the possibility of correcting here ditary enzymatic defect by gene transfer of heterologous cDNA co ding for the normal enzyme has been demonstrated

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