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Adenine phosphoribosyltransferase-deficient mice develop 2,8-dihydroxyadenine nephrolithiasis.

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 DHA crystals in the urine. Renal histopathology showed extensive tubular dilation, inflammation, necrosis, and fibrosis that varied in severity between different mouse backgrounds. Thus, biochemical and histological changes in these mice mimic the human disease and provide a suitable model of human hereditary nephrolithiasis.

Pubmed ID: 8643571


  • Engle SJ
  • Stockelman MG
  • Chen J
  • Boivin G
  • Yum MN
  • Davies PM
  • Ying MY
  • Sahota A
  • Simmonds HA
  • Stambrook PJ
  • Tischfield JA


Proceedings of the National Academy of Sciences of the United States of America

Publication Data

May 28, 1996

Associated Grants

  • Agency: NIDDK NIH HHS, Id: DK 38185
  • Agency: NIEHS NIH HHS, Id: ES 05652
  • Agency: NIEHS NIH HHS, Id: ES 06096

Mesh Terms

  • Adenine
  • Adenine Phosphoribosyltransferase
  • Alleles
  • Animals
  • Erythrocytes
  • Fibrosis
  • Homozygote
  • Humans
  • Inflammation
  • Kidney
  • Kidney Calculi
  • Mice
  • Mice, Knockout
  • Necrosis
  • Recombination, Genetic
  • Restriction Mapping
  • Stem Cells