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Rumpshaker mouse: A new X-linked mutation affecting myelination: Evidence for a defect in PLP expression

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Journal of Neurocytology

Summary

This report describes a new X-linked mutation in mice, named rumpshaker (rsh) which is associated with hypomyelination of the central nervous system. Myelination commences appropriately but the majority of sheaths fail to develop normally. Oligodendrocytes are increased in number and have prominent Golgi apparatus, rough endoplasmic reticulum and free ribosomes. Occasional cisternae of rough endoplasmic reticulum are distended. Some dense lamellar inclusions occur in Oligodendrocytes but overall, degenerative changes and cell death are uncommon. Immunostaining demonstrates a major defect in expression of PLP/DM-20. Using site-specific antisera directed at different portions of the PLP/DM-20 molecule, the major defect appears to be with PLP where virtually no myelin sheaths are positive. Antiserum against the C-terminal common to PLP and DM-20 shows reduced but definite myelin staining. Genetic analysis indicates a locus at or close to the PLP/jimpy (jp) locus. The rsh mutation, however, differs fromjp in that affected mice have normal longevity, can breed, produce substantially more myelin and have increased numbers of Oligodendrocytes.

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Authors and Affiliations

  1. Applied Neurobiology Group, University of Glasgow, UK

    I. R. Griffiths, I. Scott, M. C. McCulloch, J. A. Barrie, K. McPhilemy & B. M. Cattanach

  2. Department of Veterinary Surgery, University of Glasgow, G61 1QH, Bearsden, Glasgow, UK

    I. R. Griffiths, I. Scott, M. C. McCulloch, J. A. Barrie, K. McPhilemy & B. M. Cattanach

  3. MRC Radiobiology Unit, Didcot, Oxford, UK

    B. M. Cattanach

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  1. I. R. Griffiths
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  2. I. Scott
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  3. M. C. McCulloch
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  4. J. A. Barrie
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  5. K. McPhilemy
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  6. B. M. Cattanach
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Griffiths, I.R., Scott, I., McCulloch, M.C. et al. Rumpshaker mouse: A new X-linked mutation affecting myelination: Evidence for a defect in PLP expression. J Neurocytol 19, 273–283 (1990). https://doi.org/10.1007/BF01217305

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  • DOI: https://doi.org/10.1007/BF01217305

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