Correction of Ornithine Transcarbamylase (OTC) Deficiency in Spf-Ash Mice by Introduction of Rat OTC Gene
February 1991
in “
FEBS Letters
”
Studysummary This study found that introducing rat ornithine transcarbamylase gene into spf-ash mice improved liver and intestinal enzyme activity and normalized some metabolic indicators.
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The study aimed to correct ornithine transcarbamylase (OTC) deficiency in spf-ash mice by introducing the rat OTC gene. Researchers achieved this by mating spf-ash heterozygotes with transgenic mice carrying a recombinant DNA construct. This construct included a 1.3 kb 5′ flanking region of the gene fused to rat OTC cDNA. The resulting transgenic spf-ash mice exhibited liver OTC activity approximately twice that of nontransgenic spf-ash mice and small intestinal OTC activity six times higher, reaching 12% and 27% of normal control levels, respectively. These transgenic mice displayed normal hair growth, nearly normalized urinary orotic acid excretion, and normalized serum citrulline concentration, indicating a successful partial correction of the OTC deficiency.
