References
Query Results -- Details
MGI Accession ID: MGI:83266
J Number: J:35822
Other Accession IDs:
Title: HPRT-APRT-deficient mice are not a model for lesch-nyhan syndrome.
Authors: Engle SJ; Womer DE; Davies PM; Boivin G; Sahota A; Simmonds HA; Stambrook PJ; Tischfield JA
Journal: Hum Mol Genet
Volume: 5
Issue: 10
Date: 1996 Oct
Year: 1996
Pages: 1607-10
Review Status: Peer Reviewed
Abstract:
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.
Additional Information:
