Impaired expression of an organic cation transporter, IMPT1, in a knockout mouse model for kidney stone disease

Eleni G. Tzortzaki, Min Yang, Dayna Glass, Li Deng, Andrew P. Evan, Sharon B. Bledsoe, Peter J. Stambrook, Amrik Sahota, Jay A. Tischfield

Research output: Contribution to journalArticle

11 Scopus citations


The imprinted multimembrane-spanning polyspecific transporter-like gene 1 (IMPT1) encodes a predicted protein with organic cation transport capabilities. As a first step in understanding the function of IMPT1, we identified the renal structures expressing this gene in knockout mice with adenine phosphoribosyltransferase (APRT) deficiency and 2,8-dihydroxyadenine (DHA) nephrolithiasis. IMPT1 mRNA was not detected using a standard in situ hybridization (ISH) protocol, but we observed intense staining in cortico-medullary tubules and glomeruli in wild-type mice using an improved reverse transcription-polymerase chain reaction (RT-PCR) ISH procedure. IMPT1 mRNA expression was significantly decreased in the cortical region in kidney sections from APRT-deficient male mice. APRT-deficient female mice are less severely affected by DHA-induced kidney stone disease, and we observed only a modest reduction in IMPT1 expression in kidneys from these mice. IMPT1 expression in APRT heterozygous mice was comparable to that in wild-type mice, suggesting imprinting of one of the parental alleles. These findings suggest that decreased IMPT1 mRNA expression may contribute to the impaired renal function in APRT-deficient male mice, and that RT-PCR ISH is a valuable tool for localizing the site of expression of transcripts that are not detectable using standard ISH procedures.

Original languageEnglish (US)
Pages (from-to)257-261
Number of pages5
JournalUrological Research
Issue number4
StatePublished - Aug 1 2003


  • 2,8-Dihydroxadenine nephrolithiasis
  • Adenine phosphoribosyltransferase deficiency
  • Impaired renal transport
  • Imprinted multimembrane-spanning polyspecific transporter-like gene 1
  • In situ hybridization
  • Reverse transcription-polymerase chain reaction

ASJC Scopus subject areas

  • Urology

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