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
#MMPMID25834070
Davisson MT
; Cook SA
; Akeson EC
; Liu D
; Heffner C
; Gudis P
; Fairfield H
; Murray SA
Am J Physiol Renal Physiol
2015[Jun]; 308
(12
): F1335-42
PMID25834070
show ga
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.