Article
An animal model of type A cystinuria due to spontaneous mutation in 129S2/SvPasCrl mice.
PloS one - 1 Jan 2014
Livrozet Marine, Vandermeersch Sophie, Mesnard Laurent, Thioulouse Elizabeth, Jaubert Jean, Boffa Jean-Jacques, Haymann Jean-Philippe, Baud Laurent, Bazin Dominique, Daudon Michel, Letavernier Emmanuel
Abstract excerpt
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...
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