Mouse forward genetics in the study of the peripheral nervous system and human peripheral neuropathy

Darlene S. Douglas, Brian Popko*

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

12 Scopus citations


Forward genetics, the phenotype-driven approach to investigating gene identity and function, has a long history in mouse genetics. Random mutations in the mouse transcend bias about gene function and provide avenues towards unique discoveries. The study of the peripheral nervous system is no exception; from historical strains such as the trembler mouse, which led to the identification of PMP22 as a human disease gene causing multiple forms of peripheral neuropathy, to the more recent identification of the claw paw and sprawling mutations, forward genetics has long been a tool for probing the physiology, pathogenesis, and genetics of the PNS. Even as spontaneous and mutagenized mice continue to enable the identification of novel genes, provide allelic series for detailed functional studies, and generate models useful for clinical research, new methods, such as the piggyBac transposon, are being developed to further harness the power of forward genetics.

Original languageEnglish (US)
Pages (from-to)124-137
Number of pages14
JournalNeurochemical Research
Issue number1
StatePublished - Jan 2009


  • ENU mutagenesis
  • Forward genetics
  • Mouse genetics
  • Mouse mutants
  • Peripheral neuropathy

ASJC Scopus subject areas

  • Cellular and Molecular Neuroscience
  • Biochemistry


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