Using ontologies to describe mouse phenotypes

Genome Biol. 2005;6(1):R8. doi: 10.1186/gb-2004-6-1-r8. Epub 2004 Dec 20.


The mouse is an important model of human genetic disease. Describing phenotypes of mutant mice in a standard, structured manner that will facilitate data mining is a major challenge for bioinformatics. Here we describe a novel, compositional approach to this problem which combines core ontologies from a variety of sources. This produces a framework with greater flexibility, power and economy than previous approaches. We discuss some of the issues this approach raises.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Animals
  • Computational Biology / methods*
  • Computational Biology / standards
  • Disease Models, Animal
  • Genotype
  • Humans
  • Medical Informatics
  • Mice / genetics*
  • Mice / physiology
  • Phenotype*
  • Vocabulary, Controlled