Uses of Forward and Reverse Genetics in Mice to Study Gene Function

Carmen A. Argmann1, Andree Dierich2, Johan Auwerx2

1 Institut de Génétique et de Biologie Moléculaire et Cellulaire, Illkirch, 2 Institut de Génétique et de Biologie Moléculaire et Cellulaire and Institut Clinique de la Souris, Illkirch
Publication Name:  Current Protocols in Molecular Biology
Unit Number:  Unit 29A.1
DOI:  10.1002/0471142727.mb29a01s73
Online Posting Date:  February, 2006
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As the focus of human genetics shifts from Mendelian traits to complex diseases, a sophisticated genetic tool kit—with space for genetics (classical, molecular, statistical, and quantitative), metabolics, proteomics, bioinformatics, and mathematics—is required to elucidate their multifactorial traits and regulatory processes. Importantly, mouse resources optimized to study the actions of isolated genetic loci on a fixed background are insufficient on their own for studying intact polygenic networks and genetic interactions, and researchers must work in the context of experimental model systems that optimally mimic the genetic structure of human populations. The success of such phenogenomic approaches depend on the efficacy by which specific mutations (gene targeting) and variability (recombinant inbreeding) can be introduced into the mouse genome, and on the optimization of phenotyping analyses of the mutant mouse lines. This unit describes the basic genetic approaches used to in the study of mouse model systems.

Keywords: GEMMs; GRPs; phenotyping; forward genetics; reverse genetics; mouse

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Table of Contents

  • Reverse Genetics
  • Forward Genetics
  • Polygenic Diseases and Genetic Reference Panels
  • Literature Cited
  • Figures
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Internet Resources
  Edinburgh Mouse Atlas (emap) and gene expression database (emage).
  Ensembl Mouse Genome Server.
  ENU Mutagenesis Program.
  EU Eumorphia program.
  European Mouse Mutant Archive (EMMA). Transgenic mouse repository.
  Festing's Inbred Strain Characteristics.
  Gross necropsy and tissue fixation.
  Institut Clinique de la Souris (ICS) or Mouse Clinical Institute.
  International Mouse Strain Resource. Aims to list all publicly available mouse strains.
  Mouse Genetics: Concepts and Applications. L.M. Sliver's Mouse Genetics Book online.
  Mouse Genome Informatics.
  Mouse Knockout and Mutation Database. Searchable database for phenotypic information related to GEMMs.
  MousePhysio. Aims to facilitate international collaborative research among mouse users.
  Standardized Operating Procedures. Covers phenotyping to necropsy.
  TBASE. Database for transgenic and knockout mice.
  The Dysmorphometric Human‐Mouse Homology Database.
  The Gene Network. Bioinformatic toolkit for genetic reference populations (GRPs).
  The Jackson Laboratory. Mouse vendor and genetic resource center.
  Trans‐NIH Mouse Initiative.
  U.S. Mouse Phenome Project.
  Whole Mouse Catalog. An information Web site.
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