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.
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, Muriel T.; Cook, Susan A.; Akeson, Ellen C.; Liu, Don; Heffner, Caleb; Gudis, Polyxeni; Fairfield, Heather; and Murray, Stephen A., "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." (2015). Faculty Research 2015. 103.
https://mouseion.jax.org/stfb2015/103