Inherited neuromuscular diseases in the mouse: a review of the literature

Torres, Luiz Fernando Bleggi

doi:10.1590/S0004-282X1988000300011

Abstracts

There are several neuromuscular disorders affecting the human being. Most of these are poorly understood and lack an effective treatment. Due to the limitation of experimental manipulation in «anima nobili», inherited neuromuscular diseases in laboratory animals constitute a valuable source of scientific information. Amongst several animal species affected by neuromuscular disorders the house mouse is of particular interest because of its small size, short pregnancy and low costs of maintanence. In the present review 20 murine mutants with diseases affecting peripheral nerves, skeletal muscles and motor end-plates are tabulated. Genetic, clinical and pathological aspects are discussed aiming to provide information about these mutants which might be of great interest as animal models for human neuromuscular diseases.

Existem inúmeras doenças neuromusculares que acometem seres humanos. A grande maioria delas é insuficientemente conhecida quanto a mecanismos fisiopatológicos e tratamentos adequados. A limitação na manipulação experimental em «anima nobili» faz-nos procurar meios alternativos para o estudo dessas doenças, tais como animais experimentais com distúrbios neuromusculares geneticamente transmitidos. Estes mutantes constituem fonte inesgotável e valiosa de informações quanto a mecanismos fisiopatogênicos e processos patológicos básicos em doenças neuromusculares. Entre as diversas espécies animais afetadas por distúrbios neuromusculares o camundongo é de particular interesse devido ao seu baixo custo de manutenção, rápida reprodutividade e pequeno tamanho, o que permite amplos estudos morfológicos a custos acessíveis. Nesta revisão analisamos 20 camundongos mutantes com distúrbios afetando nervo periférico, músculo esquelético ou junção neuromuscular. Aspectos genéticos, clínicos e patológicos são discutidos na intenção de oferecer informação atualizada sobre essas mutações animais, muitas das quais de. grande interesse como modelos experimentais de doenças neuromusculares humanas.

Luiz Fernando Bleggi Torres

MD, PhD, Neuropathologist, Hospital de Clinicas and Hospital Nossa Senhora das Graças, Curitiba

SUMMARY

There are several neuromuscular disorders affecting the human being. Most of these are poorly understood and lack an effective treatment. Due to the limitation of experimental manipulation in «anima nobili», inherited neuromuscular diseases in laboratory animals constitute a valuable source of scientific information. Amongst several animal species affected by neuromuscular disorders the house mouse is of particular interest because of its small size, short pregnancy and low costs of maintanence. In the present review 20 murine mutants with diseases affecting peripheral nerves, skeletal muscles and motor end-plates are tabulated. Genetic, clinical and pathological aspects are discussed aiming to provide information about these mutants which might be of great interest as animal models for human neuromuscular diseases.

RESUMO

Existem inúmeras doenças neuromusculares que acometem seres humanos. A grande maioria delas é insuficientemente conhecida quanto a mecanismos fisiopatológicos e tratamentos adequados. A limitação na manipulação experimental em «anima nobili» faz-nos procurar meios alternativos para o estudo dessas doenças, tais como animais experimentais com distúrbios neuromusculares geneticamente transmitidos. Estes mutantes constituem fonte inesgotável e valiosa de informações quanto a mecanismos fisiopatogênicos e processos patológicos básicos em doenças neuromusculares. Entre as diversas espécies animais afetadas por distúrbios neuromusculares o camundongo é de particular interesse devido ao seu baixo custo de manutenção, rápida reprodutividade e pequeno tamanho, o que permite amplos estudos morfológicos a custos acessíveis. Nesta revisão analisamos 20 camundongos mutantes com distúrbios afetando nervo periférico, músculo esquelético ou junção neuromuscular. Aspectos genéticos, clínicos e patológicos são discutidos na intenção de oferecer informação atualizada sobre essas mutações animais, muitas das quais de. grande interesse como modelos experimentais de doenças neuromusculares humanas.

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Full text available only in PDF format.

Acknowledgements - I thank Prof. L. W. Duchen for helpful discussion. This work is part of a thesis for the degree of Doctor of Philosophy in the University of London, England.

Hospital de Clínicas - Rua General Carneiro 181 - 80069 Curitiba PR - Brasil

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Inherited neuromuscular diseases in the mouse: a review of the literature

Doenças neuromusculares hereditárias em camundongos: revisão da literatura

Publication Dates

Publication in this collection
17 June 2011
Date of issue
Sept 1988

This work is licensed under a Creative Commons Attribution-NonCommercial 4.0 International License.

[1] 1. Aguayo AJ, Bray GM, Perkins SC - Axon-Schwann cell relationships in neuropathies of mutant mice. Ann New York Acad Sci 317: 512, 1979.

[2] 2. Aguayo AJ, Attiwell M, et al - Abnormal myelination in transplanted mouse Schwann cells. Nature (Lond) 265: 73, 1977.

[3] 3. Andrews JM - The fine structure, of the cervical spinal cord, ventral root and brachial nerves in the wobbler (wr) mouse. J Neuropathol Exper Neurol 34: 12, 1975.

[4] 4. Andrews JM, Maxwell DS - Ultrastructural features of anterior horn cell degeneration in wobbler (wr) mouse. Anat Records 157: 206, 1967.

[5] 5. Ayers MM, Anderson R McD - Onion bulb neuropathy in the trembler mouse: a model for hypertrophic interstitial neuropathy (Dejerine-Sottas) in man. Acta Neuropathol (Berlin) 25: 54, 1973.

[6] 6. Ayers MM, Anderson R McD - Development of onion bulb neuropathy in the trembler mouse - comparison with normal nerve maturation. Acta Neuropathol (Berlin) 32: 43, 1975.

[7] 7. Banker BQ - A phase and electron microscopic study of dystrophic muscle: II. The pathological changes in the newborn Bar Harbor 129 dystrophic mouse. J Neuropathol Exper Neurol 27: 183, 1968.

[8] 8. Banker BQ - Muscular dysgenesis in the mouse (mdg/mdg): I. Ultrastructural study of skeletal and cardiac muscle. J Neuropathol Exper Neurol 36: 100, 1977.

[9] 9. Banker BQ, Denny-Brown D - A study of denervated muscle in normal and dystrophic mice. J Neuropathol Exper Neurol 18 :517, 1959.

[10] 10. Bennett MR - Development of neuromuscular synapses. Physiological Rev 63: 915, 1983.

[11] 11. Beuche W, Friede RL - A quantitative assessment of myelin sheaths in the peripheral nerves of Dystrophic, Quaking and Trember mutants. Acta Neuropathol (Berlin) 66: 29, 1985.

[12] 12. Bird MT, Shuttleworth EC, Koestner A, Reinglass J - The wobbler mouse mutant: an animal model of hereditary motor system disease. Acta Neuropathol (Berlin) 19: 39, 1971.

[13] 13. Biscoe TJ, Caddy K, Pallot DJ, Pehrson UMM - Investigation of cranial and other nerves in the mouse with muscular dystrophy. J Neurol Neurosurg Psychiat 38: 391, 1975.

[14] 14. Biscoe TJ, Headley PM, Martin MR, Stirling CA - Electrophysiological observations on the spinal cord of normal and dystrophic mouse. J Neurol Sci 31: 51, 1977.

[15] 15. Biscoe TJ, Caddy K, Pallot D, Pehrson M, Stirling CA - The neurological lesion in the dystrophic mouse. Brain Res 76: 534, 1974.

[16] 16. Bradley WG, Jenkison M - Abnormalities of peripheral nerves in murine muscular dystrophy. J Neurol Sci 18: 227, 1973.

[17] 17. Bradley WG, Jenkison M - Neural abnormalities in the dystrophic mouse. J Neurol Sci 25: 249, 1975.

[18] 18. Bradley WG, Jaros E, Jenkison M - The nodes of Ranvier in the, nerves of mice with muscular dystrophy. J Neuropathol Exper Neurol 36: 797, 1977.

[19] 19. Braverman IM - Neurological actions caused by the mutant gene «trembler» in the house mouse. J Neuropathol Exper Neurol 12: 64, 1953.

[20] 20. Bray G, Perkins S, Peterson AC, Aguayo AJ - Schwann cell multiplication deficit in nerve roots of newborn dystrophic mice. J Neurol Sci 32: 203, 1977.

[21] 21. Buchthal F, Schmalbruch H - Motor unit of mammalian muscle. Physiological Rev 60: 90, 1980.

[22] 22. Bulfield G, Siller WG, Wight PA, Karen JM - X-chromosomelinked muscular dystrophy (mdx) in the mouse. Proc Nat Acad Sci 81: 1189, 1984.

[23] 23. Campbell MJ - Ultrastructural observations on the wobbler mouse. J Neuropathol Exper Neurol 31: 190, 1972.

[24] 24. Carlson BM, Gutman E - Contractile and histochemical properties of sliced muscle grafts regenerating in normal and denervated rat limbs. Exper Neurol 50: 319, 1976.

[25] 25. Chernoff GF - Shiverer: an autosomal recessive mutant mouse with myelin deficiency. J Hereditary 72: 128, 1981.

[26] 26. Constantino-Ceccarini E, Morell P - Quaking mouse: in vitro studies of brain sphingolipid biosynthesis. Brain Res 29: 75, 1971.

[27] 27. Dangain J, Vrbova G - Muscle, development in mdx mutant mice. Muscle and Nerve 7: 700, 1984.

[28] 28. Dubowitz V - Pathology of experimentally re-innervated skeletal muscle. J Neurol Neurosurg Psychiat 30: 99, 1967.

[29] 29. Duchen LW - «Sprawling»: a new mutant mouse with failure of myelination of sensory axons and a deficiency of muscle spindles. Neuropathol Appl Neurobiol 1: 89, 1975.

[30] 30. Duchen LW - Motor neuron diseases in man and animals. Invest Cell Pathol 1: 249, 1978.

[31] 31. Duchen LW, Searle AG - Hereditary motor end-plate disease in the mouse: light and electron microscopic studies. J Neurol Neurosurg Psych 33: 238, 1970.

[32] 32. Duchen LW, Stefani E - Electrophysiological studies of neuromuscular transmission in hereditary motor end-plate disease of the mouse. J Physiology 212: 535, 1971.

[33] 33. Duchen LW, Scaravilli F - The structure and composition of peripheral nerves and nerve roots in the Sprawling mouse. J Anatomy 123: 763, 1977.

[34] 34. Duchen LW, Scaravilli F - Quantitative and electron microscopic studies of sensory ganglion cells of the Sprawling mouse. J Neurocytol 6: 465, 1977.

[35] 35. Duchen LW, Strich SJ, Falconer DS - Clinical and pathological studies of an hereditary neuropathy in mice (Dystonia musculorum). Brain 87: 367, 1964.

[36] 36. Duchen LW, Falconer DS, Strich SJ - Hereditary progressive neurogenic muscular atrophy in the, mouse. J Physiology 183: 53, 1966.

[37] 37. Duchen LW, Searle AG, Strich SJ - An hereditary motor end-plate disease in the mouse. J Physilology 189: 4, 1967.

[38] 38. Duchen LW, Strich SJ, Falconer DS - An hereditary motor neurone disease with progressive denervation of muscle in the mouse: the mutant «woobler». J Neurol Neurosurg Psychiat 31: 535, 1968.

[39] 39. Duchen LW, Gale AN, Gomez S - Motor end-plate morphology and neuromuscular transmission in the mutant Trembler mouse. J Physiology 308: 18, 1980.

[40] 40. Duchen LW, Gomez S, Guenet J-L, Love S - Paralyse: a new neurological mutant mouse with progressive atrophy and loss of nerve terminals. J Physiology 345: 166P, 1983.

[41] 41. Duchen LW, Eicher EM, Jacobs JM et al - Hereditary leucodystrophy in the mouse: the new mutant twitcher. Brain 103: 695, 1980.

[42] 42. Eldridge R, Fahn S - Advances in Neurology. Raven Press, New York, 1976.

[43] 43. Engel WK, Karpati G - Impaired skeletal muscle maturation following neonatal neurectomy. Develop Biol 17: 713, 1968.

[44] 44. Esaki K, Yasuda Y, Nakamura M et al - A new mutant in the mouse: peroneal muscular atrophy. Exper Animals 30: 151, 1981.

[45] 45. Falconer DS - Two new mutants «Trembler» and «Reeler» with neurological actions in the house mouse (Mus musculus L). J Genetics 50: 192, 1951.

[46] 46. Gale AN, Gomez S, Duchen LW - Changes produced by a hypomyelinating neuropathy in muscle and its innervation. Morphological and physiological studies in the Trembler mouse. Brain 105: 373, 1982.

[47] 47. Gallup B, Dubowitz V - Failure of «dystrophic» neurons to support functional regeneration of normal and dystrophic muscle in culture. Nature (London) 243: 287, 1973.

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