Modifier genes in mice and humans

Nat Rev Genet. 2001 Mar;2(3):165-74. doi: 10.1038/35056009.


An emerging theme of studies with spontaneous, engineered and induced mutant mice is that phenotypes often depend on genetic background, implying that genetic modifiers have a role in guiding the functional consequences of genetic variation. Understanding the molecular and cellular basis by which modifier genes exert their influence will provide insights into developmental and physiological pathways that are critical to fundamental biological processes, as well as into novel targets for therapeutic interventions in human diseases.

Publication types

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

MeSH terms

  • Animals
  • Cystic Fibrosis Transmembrane Conductance Regulator / genetics
  • Gene Expression*
  • Genetic Diseases, Inborn / genetics
  • Genetic Linkage
  • Genetics, Medical
  • Genomic Imprinting*
  • Genotype
  • Humans
  • Mice
  • Mutation
  • Penetrance*
  • Phenotype
  • Polymorphism, Genetic*


  • CFTR protein, human
  • Cystic Fibrosis Transmembrane Conductance Regulator