Skip to main content
. 2014 Jul 21;9(7):e102700. doi: 10.1371/journal.pone.0102700

Figure 5. Identification of a functional missense mutation in a highly conserved sequence of the Slc3a1 gene in 129S2/SvPasCrl mouse.

Figure 5

A, Mutation of G by A nucleotide at position 1232 in 129S2/SvPasCrl mouse (c.1232G>A). B, In position 383, the glutamine is substituted by a lysine in the extracellular part of rBAT protein in 129S2/SvPasCrl mouse. The sequence is highly conserved among mammal species. C, 129S1/Sv mice from the Jackson laboratory express rBAT at the brush border of proximal tubular cells. D, Eighty percent of 129S2/SvPasCrl mice sacrificed at 10 weeks were affected by urolithiasis whereas no 129S2/SvPas (G/G genotype) mouse was affected (n = 5/group, p = 0.047). E, One hundred percent of 129S2/SvPasCrl mice presented cystine crystals in urine whereas no 129S2/SvPas (G/G genotype) mouse was affected (n = 5/group, p = 0.008). F, Urinary aminoacid chromatography has been performed in 129S2/SvPasCrl mice and 129S2/SvPas mice (n = 5/group). Cysteine (reduced form of cystine) was significantly higher in 129S2/SvPasCrl mice urine (p = 0.008). Results are expressed as aminoacid concentration (µMol)/creatinine concentration (mMol) in urines.