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Abstract:
The prospect to create mouse mutants of virtually any cloned gene has renewed interest in the genetic analysis of mammalian brain development. A diverse group of spontaneous and engineered mouse mutants, characterized by a defect of myelin formation, has been intensively studied from the morphological to the molecular level. In this system, genetics has been successfully applied to analyze a corresponding set of membrane proteins which help to elaborate a defined structural entity, compact myelin. Shiverer, jimpy, Trembler, and protein zero (P0)-deficient mice demonstrate the overall function of myelination and have become models for human neurological diseases. They also illustrate some of the problems encountered in defining protein functions from complex mutant phenotypes.
