An animal model of type A cystinuria due to spontaneous mutation in 129S2/SvPasCrl mice

PLoS One. 2014 Jul 21;9(7):e102700. doi: 10.1371/journal.pone.0102700. eCollection 2014.

Abstract

Cystinuria is an autosomal recessive disease caused by the mutation of either SLC3A1 gene encoding for rBAT (type A cystinuria) or SLC7A9 gene encoding for b0,+AT (type B cystinuria). Here, we evidenced in a commonly used congenic 129S2/SvPasCrl mouse substrain a dramatically high frequency of kidney stones that were similar to those of patients with cystinuria. Most of 129S2/SvPasCrl exhibited pathognomonic cystine crystals in urine and an aminoaciduria profile similar to that of patients with cystinuria. In addition, we observed a heterogeneous inflammatory infiltrate and cystine tubular casts in the kidney of cystinuric mice. As compared to another classical mouse strain, C57BL/6J mice, 129S2/SvPasCrl mice had an increased mortality associated with bilateral obstructive hydronephrosis. In 129S2/SvPasCrl mice, the heavy subunit rBAT of the tetrameric transporter of dibasic amino acids was absent in proximal tubules and we identified a single pathogenic mutation in a highly conserved region of the Slc3a1 gene. This novel mouse model mimicking human disease would allow us further pathophysiological studies and may be useful to analyse the crystal/tissue interactions in cystinuria.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Amino Acid Sequence
  • Amino Acid Transport Systems, Basic / chemistry
  • Amino Acid Transport Systems, Basic / genetics*
  • Amino Acid Transport Systems, Neutral / chemistry
  • Amino Acid Transport Systems, Neutral / genetics*
  • Animals
  • Cystinuria / complications
  • Cystinuria / genetics*
  • Cystinuria / physiopathology
  • Disease Models, Animal*
  • Kidney / metabolism
  • Kidney / physiopathology
  • Kidney Calculi / etiology
  • Kidney Calculi / genetics
  • Kidney Calculi / physiopathology
  • Male
  • Mice
  • Mice, Inbred C57BL
  • Molecular Sequence Data
  • Mutation, Missense*
  • Phenotype

Substances

  • Amino Acid Transport Systems, Basic
  • Amino Acid Transport Systems, Neutral
  • Slc3a1 protein, mouse

Supplementary concepts

  • Cystinuria, Type A

Grants and funding

Funding: INSERM. The funders had no role in study design, data collection and analysis, decision to publish, or preparation of the manuscript.