Davisson Muriel T, Cook Susan A, Akeson Ellen C, Liu Don, Heffner Caleb, Gudis Polyxeni, Fairfield Heather, Murray Stephen A
The Jackson Laboratory, Bar Harbor, Maine.
The Jackson Laboratory, Bar Harbor, Maine
Am J Physiol Renal Physiol. 2015 Jun 15;308(12):F1335-42. doi: 10.1152/ajprenal.00410.2014. Epub 2015 Apr 1.
Many genes, including odd-skipped related 1 (Osr1), are involved in regulation of mammalian kidney development. We describe here a new recessive mutation (kidney adysplasia and variable hydronephrosis, kavh) in the mouse that leads to downregulation 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 Chromosome 12 breakpoint is upstream from Osr1. The kavh/kavh mutant provides a model to study kidney development and test therapies for hydronephrosis.
包括odd-skipped相关基因1(Osr1)在内的许多基因参与哺乳动物肾脏发育的调控。我们在此描述小鼠中的一种新的隐性突变(肾发育不全和可变肾积水,kavh),该突变导致Osr1转录本下调,从而引起多种肾脏缺陷:肾缺如、发育不全以及不同发病年龄的肾积水。该突变与一个相互易位T(12;17)4Rk紧密相关,其12号染色体断点位于Osr1上游。kavh/kavh突变体为研究肾脏发育和测试肾积水治疗方法提供了一个模型。