Myelin pp 489-534 | Cite as

Animal Models of Genetic Disorders of Myelin

  • Edward L. Hogan
  • Seymour Greenfield


Improved understanding of the assembly and maintenance of myelin is afforded by the study of animals in which interference with these processes occurs as a result of genetic variation, toxic exposure, immunological attack, viral infection, nutritional or endocrine deficiency, and physical or circulatory insult. Mutant animals are particularly suitable for the biochemical approach, since they make it possible to obtain genetic homogeneity, sufficient quantities for experimental use, and strict control of their nutrition and environment. During the past decade, considerable work has been carried out on several mouse mutants with genetic defects in and limited to the formation of myelin. The first recognized were the jiutpy, quaking, and myelin synthesis deficiency mutants, and study of them contributed importantly to the identification of myelin constituents and clarification of major features of myelin metabolism and myelinogenesis. In recent years, several additional mouse mutants have been described and shown to have myelin disorders with special characteristics that further reveal the biology of myelin. The most notable of these are shiverer, which has an almost complete lack of myelin basic protein; twitcher, which resembles human globoid cell leukodystm ophy in having a severe deficiency of galactosylceramide ß-galactosidase; trembler, which has a primary disorder of peripheral nerve and Schwann cell; and muscular dystrophy, which has amyelinated segments of nerve roots. All these mutants share advantages for experimental study in that the pathology is limited to the myelin, their genetic nature presages likely abnormality of protein structure, serial developmental analysis is possible, and dilfereuees in both phenotype and genotype of myelin disorders have been shown.


Sciatic Nerve Schwann Cell Myelin Basic Protein Myelin Protein Organotypic Culture 
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Copyright information

© Springer Science+Business Media New York 1984

Authors and Affiliations

  • Edward L. Hogan
    • 1
  • Seymour Greenfield
    • 1
  1. 1.Medical University of South CarolinaCharlestonUSA

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