Neuromuscular transmission in the murine mutants “motor end-plate disease” and “jolting”

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Abstract

Mice with the inherited disorder “motor end-plate disease” suffered from a progressive neuromuscular weakness and muscular wasting. The weakness resulted from a failure of evoked transmitter release from the motor nerve terminals. The failure in transmission was all-or-nothing in nature. The numbers of muscle fibres in skeletal muscle and myelinated axons in several major nerve trunks were no different from normal. The loss in muscle bulk was caused by the neuromuscular defect and not from a loss of motor units or muscle fibres.

The inherited murine disorder “jolting” was allelic with “motor end-plate disease”. Affected “jolting” mice suffered no detectable morphological abnormality in skeletal muscle or peripheral nerve. The physiological properties of skeletal muscle and the characteristics of neuromuscular transmission were indistinguishable from normal.

References (27)

  • J.B. Harris et al.

    A comparative study of “denervation” in muscles from mice with inherited progressive neuromuscular disorders

    Exp. Neurol.

    (1974)
  • W. Allan et al.

    A modular system of instruments for simple experiments on skeletal muscle using intracellular microelectrode techniques

    Brit. J. Pharmacol.

    (1977)
  • D. Angaut-Petit et al.

    Electrophysiological studies of a motor nerve in “motor end-plate disease” of the mouse

  • R.J. Boakes et al.

    Abnormal electrophysiological and anatomical characteristics of cerebellar Purkinje cells in the mutant mouse jolting

    J. Physiol. (Lond.)

    (1985)
  • R. Bournard et al.

    Abnormal nerve function in hereditary motor end-plate disease (med) of the mouse

  • D.J. Dick et al.

    A cerebellar abnormality in the mouse with motor end-plate disease

    Neuropath. Appl. Neurobiol.

    (1985)
  • L.W. Duchen et al.

    Hereditary motor end-plate disease in the mouse: light and electron microscopic studies

    J. Neurol. Neurosurg. Psychiat.

    (1970)
  • L.W. Duchen et al.

    Electrophysiological studies of neuromuscular transmission in hereditary “motor end-plate disease” of the mouse

    J. Physiol. (Lond.)

    (1971)
  • R. Emery

    An Introduction to Recombinant DNA

    (1985)
  • J.B. Harris et al.

    “Motor end-plate disease” and the mutant “jolting” (medjo) mouse

    J. Physiol. (Lond.)

    (1982)
  • J.B. Harris et al.

    Reversal of paralysis in nerve-muscle preparations isolated from animals with hereditary motor end-plate disease

    Brit. J. Pharmacol.

    (1985)
  • J.B. Harris et al.

    The relationship between endplate size and transmitter release in normal and dystrophic muscles of the mouse

    J. Physiol. (Lond.)

    (1979)
  • J.B. Harris et al.

    Pharmacological aspects of neuromuscular transmission in the isolated diaphragm of the dystrophic (Rej 129) mouse

    Brit. J. Pharmacol.

    (1979)
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    This work was supported by grants from the Muscular Dystrophy Group of Great Britain and the National Fund for Research into Crippling Diseases.

    Part of this work was incorporated into a Ph.D. thesis submitted to the University of Newcastle upon Tyne by Sandra Pollard.

    Present address: ICI Plc., Central Toxicology Laboratory, Alderley Park, Macclesfield, Cheshire, U.K.

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