Kidney adysplasia and variable hydronephrosis, a new mutation affecting the odd-skipped related 1 gene in the mouse.

We describe here a new recessive mutation (variable hydronephrosis, vhn) in the mouse that leads to down regulation of Osr1 transcript, causing several kidney defects: agenesis, hypoplasia and hydronephrosis with variable age of onset. The mutation is closely associated with a reciprocal translocation, T(12;17)4Rk, whose Chr 12 breakpoint is upstream from Osr1. This breakpoint may cause the genetic lesion. The vhn/vhn mutant provides a model to study kidney development and test therapies for hydronephrosis.
PMID: 25834070 [PubMed - as supplied by publisher]

Source: Am J Physiol Renal P... - April 1, 2015 Category: Urology & Nephrology Authors: Davisson MT, Cook SA, Akeson EC, Liu D, Heffner C, Gudis P, Fairfield H, Murray SA Tags: Am J Physiol Renal Physiol Source Type: research