Article
Adenine phosphoribosyltransferase-deficient mice develop 2,8-dihydroxyadenine nephrolithiasis.
Proceedings of the National Academy of Sciences of the United States of America - 28 May 1996
Engle S J, Stockelman M G, Chen J, Boivin G, Yum M N, Davies P M, Ying M Y, Sahota A, Simmonds H A, Stambrook P J, Tischfield J A
Abstract excerpt
Adenine phosphoribosyltransferase (APRT) deficiency in humans is an autosomal recessive syndrome characterized by the urinary excretion of adenine and the highly insoluble compound 2,8-dihydroxyadenine (DHA) that can produce kidney stones or renal failure. Targeted homologous recombination in embryonic stem cells was used to produce mice that lack APRT. Mice homozygous for a null Aprt allele excrete adenine and...
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