Functional models for congenital anomalies of the kidney and urinary tract

Nephron. 2015;129(1):62-7. doi: 10.1159/000369313. Epub 2014 Dec 19.


Congenital anomalies of the kidney and urinary tract (CAKUT) constitute one of the most common developmental diseases in humans; however, the cause for most patients remains unknown. Efforts to identify novel genetic causes for CAKUT through next-generation sequencing techniques have led to the discovery of new genes and risk factors. Concomitantly, these same efforts have generated large gene candidate lists requiring individual functional characterization. Appropriate model systems are needed to assess the functionality of genes and pathogenicity of genetic variants discovered in CAKUT patients. In this review, we discuss how cellular, animal, and personal (human) models are being used to study CAKUT candidate genes and what their major advantages and disadvantages are with respect to relevance and throughput.

Publication types

  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Animals
  • Genetic Variation
  • High-Throughput Nucleotide Sequencing
  • Humans
  • In Vitro Techniques
  • Kidney / abnormalities*
  • Mice
  • Models, Animal
  • Models, Biological*
  • Mutation
  • Precision Medicine
  • Proteomics
  • Risk Factors
  • Stem Cells / cytology
  • Urinary Tract / abnormalities*
  • Zebrafish