The Informatics of Developmental Phenotypes

Paul N. Schofield, Robert Hoehndorf, Cynthia L. Smith, Janan T. Eppig, Georgios V. Gkoutos

Research output: Chapter in Book/Report/Conference proceedingChapterpeer-review


The capture of developmental phenotype information in a way that permits computational analysis requires a semantically formal system that is sufficiently powerful and flexible to deal with all of the traditional and increasingly novel observational modalities being applied to mouse embryos. The Mammalian Phenotype (MP) Ontology provides a structured and defined terminology that permits the capture of these data and then, through the recent advances in bio-semantics, its integration with other phenotypic, genetic, and molecular data across different species. For example, human developmental phenotypes may be compared computationally with those from a range of genetically manipulated model organisms to establish potential candidate genes for disease. Insights into developmental mechanisms may also be obtained; for example, comparison of patterns of gene expression in experimentally manipulated embryos can be related to developmental processes through the effects on phenotype. Partly driven by high-throughput functional genomic projects, the MP has recently been augmented to capture the data associated with the embryonic lethality of homozygous knockout mutations, and we discuss how these data can be used for the discovery of novel gene functions, developmental mechanisms, and disease processes.

Original languageEnglish (US)
Title of host publicationKaufman's Atlas of Mouse Development Supplement
Subtitle of host publicationWith Coronal Sections
Number of pages12
ISBN (Electronic)9780128000434
ISBN (Print)9780128009130
StatePublished - Jan 1 2015

Bibliographical note

Publisher Copyright:
© 2016 Elsevier Inc. All rights reserved.


  • development
  • embryo
  • mouse
  • ontology
  • Phenomenet
  • Phenotype

ASJC Scopus subject areas

  • General Biochemistry, Genetics and Molecular Biology


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