title: Vesico-ureteric reflux: using mouse models to understand a common congenital urinary tract defect.
abstract: Vesico-ureteric reflux (VUR) is a common congenital urinary tract defect in which urine flows retrogradely from the bladder to the kidneys because of an abnormally formed uretero-vesical junction. It is associated with recurrent urinary tract infections, renal hypo/dysplasia, reflux nephropathy, hypertension, and end-stage renal disease. In humans, VUR is genetically and phenotypically heterogeneous, encompassing diverse renal and urinary tract phenotypes. To understand the significance of these phenotypes, we and others have used the mouse as a model organism and this has led to the identification of new candidate genes. Through careful phenotypic analysis of these models, a new understanding of the genetics and biology of VUR is now underway.
authors.affiliation: Department of Human Genetics, Montreal Children's Hospital, McGill University, 2300 Tupper Street, Montreal, QC, H3Z 2Z3, Canada.
authors.forename: Inga J
authors.initials: IJ
authors.lastname: Murawski
authors.forename: Christine L
authors.initials: CL
authors.lastname: Watt
authors.forename: Indra R
authors.initials: IR
authors.lastname: Gupta
mesh_terms: D000818:Animals; D030801:Animals, Genetically Modified; D004195:Disease Models, Animal; D005820:Genetic Testing; D006801:Humans; D051379:Mice; D010641:Phenotype; D014513:Ureter / Q000002:abnormalities* / Q000473:pathology / Q000503:physiopathology; D001743:Urinary Bladder / Q000002:abnormalities* / Q000473:pathology / Q000503:physiopathology; D014563:Urodynamics / Q000235:genetics*; D014718:Vesico-Ureteral Reflux / Q000151:congenital* / Q000473:pathology / Q000503:physiopathology