Article
A mouse Col4a4 mutation causing Alport glomerulosclerosis with abnormal collagen α3α4α5(IV) trimers.
Kidney international - 1 Jun 2014
Korstanje Ron, Caputo Christina R, Doty Rosalinda A, Cook Susan A, Bronson Roderick T, Davisson Muriel T, Miner Jeffrey H
Abstract excerpt
A spontaneous mutation termed bilateral wasting kidneys (bwk) was identified in a colony of NONcNZO recombinant inbred mice. These mice exhibit a rapid increase of urinary albumin at an early age associated with glomerulosclerosis, interstitial nephritis, and tubular atrophy. The mutation was mapped to a location on chromosome 1 containing the Col4a3 and Col4a4 genes, for which mutations in the human orthologs...
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