Title
Kidney adysplasia and variable hydronephrosis, a new mutation affecting the odd-skipped related 1 gene in the mouse, causes variable defects in kidney development and hydronephrosis.
Document Type
Article
Publication Date
6-15-2015
JAX Source
Am J Physiol Renal Physiol 2015 Jun 15; 308(12):F1335-42.
Volume
308
Issue
12
First Page
1335
Last Page
1342
ISSN
1522-1466
PMID
25834070
Grant
CA034196, RR01183, DK064674
Abstract
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. Am J Physiol Renal Physiol 2015 Jun 15; 308(12):F1335-42.
Recommended Citation
Davisson MT,
Cook SA,
Akeson EC,
Liu D,
Heffner C,
Gudis P,
Fairfield H,
Murray SA.
Kidney adysplasia and variable hydronephrosis, a new mutation affecting the odd-skipped related 1 gene in the mouse, causes variable defects in kidney development and hydronephrosis. Am J Physiol Renal Physiol 2015 Jun 15; 308(12):F1335-42.