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Mammalian Genome

, Volume 17, Issue 5, pp 407–416 | Cite as

Deficiency of the tensin2 gene in the ICGN mouse: an animal model for congenital nephrotic syndrome

  • A-Ri Cho
  • Kozue Uchio-Yamada
  • Takeshi Torigai
  • Tomomi Miyamoto
  • Ichiro Miyoshi
  • Junichiro Matsuda
  • Tsutomu Kurosawa
  • Yasuhiro Kon
  • Atsushi Asano
  • Nobuya Sasaki
  • Takashi AguiEmail author
Article

Abstract

The ICGN mouse is a model for nephrotic syndrome (NS) which presents with proteinuria, hyperlipidemia, and edema. In this study we attempted to identify the gene(s) responsible for NS. By analyzing albuminuria in 160 (ICGN × MSM)F1 × ICGN backcross progenies, we found that NS in the ICGN mouse is caused by more than one gene. We then performed a quantitative trait locus (QTL) analysis and detected a QTL with a very high LOD score peak in the telomeric region of Chr 15. By analyzing the nucleotide sequence of 22 genes located close to the QTL, we found that the tensin2 gene of the ICGN mouse possessed an 8-nucleotide deletion mutation in exon 18, leading to a frameshift and giving rise to a terminal codon at a premature position. Analyses of in situ hybridization and immunohistochemistry revealed that tensin2 was expressed in podocytes and tubular epithelial cells in normal mice but not in the ICGN mouse. These data raise the possibility that a mutation of the tensin2 gene is responsible for NS of the ICGN mouse and tensin2 is a prerequisite for the normal kidney function.

Keywords

Quantitative Trait Locus Nephrotic Syndrome Quantitative Trait Locus Analysis Glomerular Basement Membrane Tubular Epithelial Cell 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.

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Copyright information

© Springer Science+Business Media, Inc. 2006

Authors and Affiliations

  • A-Ri Cho
    • 1
    • 2
  • Kozue Uchio-Yamada
    • 3
  • Takeshi Torigai
    • 1
    • 4
  • Tomomi Miyamoto
    • 1
  • Ichiro Miyoshi
    • 1
  • Junichiro Matsuda
    • 3
  • Tsutomu Kurosawa
    • 5
  • Yasuhiro Kon
    • 6
  • Atsushi Asano
    • 2
  • Nobuya Sasaki
    • 2
  • Takashi Agui
    • 1
    • 2
    Email author
  1. 1.Center for Experimental Animal Science, Graduate School of Medical SciencesNagoya City UniversityNagoyaJapan
  2. 2.Laboratory of Experimental Animal Science, Department of Disease Control, Graduate School of Veterinary MedicineHokkaido UniversityKita-kuJapan
  3. 3.Department of Veterinary SciencesNational Institute of Infectious DiseasesTokyoJapan
  4. 4.Department of Neurosurgery, Graduate School of Medical SciencesNagoya City UniversityNagoyaJapan
  5. 5.The Institute of Experimental Animal ScienceOsaka University Medical SchoolOsakaJapan
  6. 6.Laboratory of Anatomy, Department of Biomedical Sciences, Graduate School of Veterinary MedicineHokkaido UniversitySapporoJapan

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