Encyclopedia of Animal Cognition and Behavior

Living Edition
| Editors: Jennifer Vonk, Todd Shackelford

Incomplete Penetrance

  • Ali Marchant
  • Kristine O. EvansEmail author
Living reference work entry
DOI: https://doi.org/10.1007/978-3-319-47829-6_373-1



Incomplete penetrance occurs when individuals with a certain genotype in a population do not necessarily express the associated phenotype.


Incomplete penetrance is a phenomenon of interest to many geneticists, with particular emphasis on disease expression. It occurs in genes of many animals, including humans, and is common with autosomal dominant diseases. However, it can also be found in recessive patterns of heritance, though this is rare. Expression of a phenotype is most likely a result from many factors, including: genetic, environmental, and lifestyle. With a wide variety of factors influencing incomplete penetrance, current research focuses on individual expression of disease phenotypes, as well as carrier genotypes where phenotypic expression may not occur until the next generation of offspring. Incomplete penetrance of genes also renders prediction of disease expression among members of a population or...

This is a preview of subscription content, log in to check access.


  1. Field, M. J. (1970, January 01). Organization and Support of Disability Research. Current Neurology and Neuroscience Reports. U.S. National Library of Medicine. Retrieved 2 Oct 2018, from https://www.ncbi.nlm.nih.gov/books/NBK11436/
  2. Laikre, L., Ryman, N., & Thompson, E. A. (1993). Hereditary blindness in a captive wolf (Canis lupus) population: Frequency reduction of a deleterious allele in relation to gene conservation. Conservation Biology, 7(3), 592–601.  https://doi.org/10.1046/j.1523-1739.1993.07030592.x.CrossRefGoogle Scholar
  3. Pereira, R., Halford, K., Sokolov, B. P., Khillan, J. S., & Prockop, D. J. (1994). Phenotypic variability and incomplete penetrance of spontaneous fractures in an inbred strain of transgenic mice expressing a mutated collagen gene (COL1A1). Journal of Clinical Investigation, 93(4), 1765–1769.  https://doi.org/10.1172/jci117161.CrossRefPubMedPubMedCentralGoogle Scholar

Copyright information

© Springer Nature Switzerland AG 2019

Authors and Affiliations

  1. 1.Department of Wildlife, Fisheries and AquacultureMississippi State UniversityStarkvilleUSA

Section editors and affiliations

  • Mystera M. Samuelson
    • 1
  1. 1.The Institute for Marine Mammal StudiesGulfportUSA