caa a22 4500 397574304 CHVBK 20180308164850.0 cr unu---uuuuu 161202e199610 xx s 000 0 eng 10.1093/hmg/5.10.1607 doi (NATIONALLICENCE)oxford-10.1093/hmg/5.10.1607 HPRT-APRT-deficient Mice Are Not a Model for Lesch-Nyhan Syndrome [Elektronische Daten] [Sandra J. Engle, Daniel E. Womer, Philip M. Davies, Greg Boivin, Amrik Sahota, H. Anne Simmonds, Peter J. Stambrook, Jay A. Tischfield] Complete hypoxanthine-guanine phosphoribosyl-transferase (HPRT) deficiency in humans results in the Lesch-Nyhan syndrome which is characterized, among other features, by compulsive self-injurious behavior. HPRT-deficient mice generated using mouse embryonic stem cells exhibit none of the behavioral symptoms associated with the Lesch-Nyhan syndrome. Administration of drugs that inhibit adenine phosphoribosyltransferase (APRT) in HPRT-deficient mice has produced the suggestion that deficiency of APRT in combination with HPRT-deficiency in mice may lead to self-mutilation behavior [C. L. Wu and D. W. Melton (1993) Nature Genet. 3, 235-240]. To test this proposition, we bred HPRT-APRT-deficient mice. Although the doubly-deficient mice excrete adenine and its highly insoluble derivative, 2,8-dihydroxyadenine, which are also associated with human APRT deficiency, additional abnormalities or any self-injurious behavior were not detected. Thus, APRT-HPRT-deficient mice, which are devoid of any purine salvage pathways, show no novel phenotype and are not a model for the behavioral abnormalities associated with the Lesch-Nyhan syndrome as previously suggested. © 1996 Oxford University Press Engle Sandra J. Department of Medical and Molecular Genetics, Indiana University School of Medicine, IB 130, 975 West Walnut Street, Indianapolis, IN 46202-5251, USA aut Womer Daniel E. Department of Medical and Molecular Genetics, Indiana University School of Medicine, IB 130, 975 West Walnut Street, Indianapolis, IN 46202-5251, USA aut Davies Philip M. Purine Research Laboratory, Guy's Hospital, London SE1 9RT, UK aut Boivin Greg Departments of Cell Biology, Neurobiology and Anatomy, and Pathology and Laboratory Medicine, University of Cincinnati College of Medicine, Cincinnati, OH 45267, USA aut Sahota Amrik Department of Medical and Molecular Genetics, Indiana University School of Medicine, IB 130, 975 West Walnut Street, Indianapolis, IN 46202-5251, USA aut Simmonds H. Anne Purine Research Laboratory, Guy's Hospital, London SE1 9RT, UK aut Stambrook Peter J. Departments of Cell Biology, Neurobiology and Anatomy, and Pathology and Laboratory Medicine, University of Cincinnati College of Medicine, Cincinnati, OH 45267, USA aut Tischfield Jay A. Department of Medical and Molecular Genetics, Indiana University School of Medicine, IB 130, 975 West Walnut Street, Indianapolis, IN 46202-5251, USA aut Human Molecular Genetics Oxford University Press 5/10(1996-10), 1607-1610 0964-6906 5:10<1607 1996 5 hmg https://doi.org/10.1093/hmg/5.10.1607 text/html Onlinezugriff via DOI 1 research-article jats NATIONALLICENCE 856 40 https://doi.org/10.1093/hmg/5.10.1607 text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Engle Sandra J. Department of Medical and Molecular Genetics, Indiana University School of Medicine, IB 130, 975 West Walnut Street, Indianapolis, IN 46202-5251, USA aut NATIONALLICENCE 700 1- Womer Daniel E. Department of Medical and Molecular Genetics, Indiana University School of Medicine, IB 130, 975 West Walnut Street, Indianapolis, IN 46202-5251, USA aut NATIONALLICENCE 700 1- Davies Philip M. Purine Research Laboratory, Guy's Hospital, London SE1 9RT, UK aut NATIONALLICENCE 700 1- Boivin Greg Departments of Cell Biology, Neurobiology and Anatomy, and Pathology and Laboratory Medicine, University of Cincinnati College of Medicine, Cincinnati, OH 45267, USA aut NATIONALLICENCE 700 1- Sahota Amrik Department of Medical and Molecular Genetics, Indiana University School of Medicine, IB 130, 975 West Walnut Street, Indianapolis, IN 46202-5251, USA aut NATIONALLICENCE 700 1- Simmonds H. Anne Purine Research Laboratory, Guy's Hospital, London SE1 9RT, UK aut NATIONALLICENCE 700 1- Stambrook Peter J. Departments of Cell Biology, Neurobiology and Anatomy, and Pathology and Laboratory Medicine, University of Cincinnati College of Medicine, Cincinnati, OH 45267, USA aut NATIONALLICENCE 700 1- Tischfield Jay A. Department of Medical and Molecular Genetics, Indiana University School of Medicine, IB 130, 975 West Walnut Street, Indianapolis, IN 46202-5251, USA aut NATIONALLICENCE 773 0- Human Molecular Genetics Oxford University Press 5/10(1996-10), 1607-1610 0964-6906 5:10<1607 1996 5 hmg Metadata rights reserved CC BY-NC-4.0 http://creativecommons.org/licenses/by-nc/4.0 nationallicence BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-oxford