Transgenic mouse model that expresses the phosphoribosyltransferase domain containing 1 gene for the study of Lesch-Nyhan disease as well as the function of the phosphoribosyltransferase domain containing 1 (PRTFDC1) gene.
Lesch-Nyhan disease (LND) is a severe X-linked neurological disorder caused by a deficiency of hypoxanthine phosphoribosyltransferase (HPRT). This results in poor muscle control, mental retardation, and leads to a build-up of uric acid in body fluids, gout, and kidney disease. HPRT deficiency is modified by the presence/absence of phosphoribosyltransferase domain containing 1 (PRTFDC1), a paralog of HPRT that is a functional gene in humans but an inactivated pseudogene in mice. In order to further determine the role of HPRT and PRTFDC1 in LND Emory researchers have created transgenic mice that express functional human PRTFDC1 in wild-type and HPRT-deficient backgrounds. Mice expressing the PRTFDC1 transgene in a HPRT-deficient background serve as a new animal model of Lesch-Nyhan disease.
Publications: PLoS One. 2011;6(7):e22381. Epub 2011 Jul 27.