SciELO - Scientific Electronic Library Online

 
vol.46 issue3Myelination, demyelination and remyelination in the central nervous systemMultiple brain abscesses: report of two cases author indexsubject indexarticles search
Home Pagealphabetic serial listing  

Services on Demand

Journal

Article

Indicators

Related links

Share


Arquivos de Neuro-Psiquiatria

Print version ISSN 0004-282X

Arq. Neuro-Psiquiatr. vol.46 no.3 São Paulo Sept. 1988

https://doi.org/10.1590/S0004-282X1988000300011 

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

 

Doenças neuromusculares hereditárias em camundongos: revisão da literatura

 

 

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.


 

 

Texto completo disponível apenas em PDF.

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.

 

REFERENCES

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

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

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.         [ Links ]

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

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.         [ Links ]

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.         [ Links ]

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.         [ Links ]

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.         [ Links ]

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

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

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.         [ Links ]

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.         [ Links ]

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.         [ Links ]

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.         [ Links ]

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

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

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

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.         [ Links ]

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

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.         [ Links ]

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

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

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

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.         [ Links ]

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

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

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

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

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.         [ Links ]

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

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.         [ Links ]

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

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

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

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

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

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

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.         [ Links ]

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

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.         [ Links ]

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

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

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

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

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

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.         [ Links ]

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.         [ Links ]

48. Green EL - Biology of the Laboratory Mouse. Mc Graw Hill, New York, 1966.         [ Links ]

49. Green MC, Sidman RL, Pivetta O - Cribriform degeneration (cri): a new recessive neurological mutation in the mouse. Science 176: 800, 1972.         [ Links ]

50. Grinnell AD, Herrera A - Specificity and plasticity of neuromuscular connections: long-term regulation of motor neuron function. Progress in Neurobiology 17: 203, 1981.         [ Links ]

51. Gruneberg H - The Genetics of the Mouse. Martinus Nijhoff, The Hague, 1952.         [ Links ]

52. Gruneberg H - An annotated catalogue of the mutant genes of the house mouse. HMSO, London, 1956.         [ Links ]

53. Hanker JS, Peach R - Histochemical and ultrastructural studies of primary sensory neurons in mice with dystonia musculorum: I. Acetylcholinesterase and lysosomal hydrolases. Neuropathol Appl Neurobiol 2: 79, 1976.         [ Links ]

54. Harris AJ - Embryonic growth and innervation of rat skeletal muscles. Philosophical Trans Roy Soc London 293: 257, 1981.         [ Links ]

55. Harris JB - Muscular dystrophy and other inherited diseases of skeletal muscle in animals. New York Academy of Sciences, New York, 1979.         [ Links ]

56. Harris JB, Marshall M - A study of action potential generation in murine dystrophy with reference to functional denervation. Exper Neurol 41: 331, 1973.         [ Links ]

57. Harris JB, Ward MR - A comparative study of denervation in muscles from mice with inherited progressive neuromuscular disorders. Exper Neurol 42: 169, 1974.         [ Links ]

58. Harris JB, Montgomery A - Some mechanisms and electrical properties of distal hind limb muscles of genetically dystrophic mice (C75B1/6J dy2j/dy2j). Exper Neurol 48: 568, 1975.         [ Links ]

59. Harris JB, Ribchester R - Muscular dystrophy in the mouse: neuromuscular transmission and the concept of functional denervation. Ann New York Acad Sci 317: 152, 1979.         [ Links ]

60. Harris JB, Slater C - Animal models: what is their relevance to the pathogenesis of human muscular dystrophy? Brit Med Bull 36: 193, 1980.         [ Links ]

61. Huizar P, Kuno M, Miyata Y - Electrophysiological properties of spinal motorneurones of normal and dystrophic mice. J Physiology 248: 231, 1975.         [ Links ]

62. Innes JR - Myopathies in animals. Brit Veterinary J 107: 131, 1951.         [ Links ]

63. Janota I - Ultrastruetural studies of an hereditary sensory neuropathy in mice (Dystonia musculorum). Brain 95: 529, 1972.         [ Links ]

64. Karpati G, Carpenter S, Prescott S - Small-caliber skeletal muscle fibres do not suffer necrosis in X-linked Muscular Dystrophy (MDX) of mice. Neurology 36: 240, 1986.         [ Links ]

65. Kobayashi T, Yamanaka T, Jacobs JM et al - The twitcher mouse: an enzymatically authentic model of human globoid cell leucodystrophy (Krabbe disease). Brain Res 202: 479, 1980.         [ Links ]

66. Kugelberg E - Adaptive transformation of rat soleus motor units during growth. Histochemistry and contraction speed. J Neurol Sci 27: 269, 1976.         [ Links ]

67. Kuno M - Physiologic consequences of neural abnormalities in murine dystrophy. Ann New York Acad Sci 317: 143, 1979.         [ Links ]

68. Lane PW, Deol M - Mocha, a new coat color and behaviour mutation on chromosome 10 of the mouse. J Hereditary 65: 362, 1974.         [ Links ]

69. Lane PW, Beamer TC, Myers D - Myodystrophy, a new myopathy on chromosome 8 of the mouse. J Heredity 67: 135, 1976.         [ Links ]

70. Law P, Atwood H, McComas AJ - Functional denervation in the soleus muscle of dystrophic mice. Exper Neurol 51: 434, 1976.         [ Links ]

71. Locke S - Modern Neurology. Little-Brown, Boston, 1969.         [ Links ]

72. Low PA - Hereditary hypertrophic neuropathy in the trembler mouse: 1. Histopathological studies: light microscopy. J Neurol Sci 30: 327, 1976.         [ Links ]

73. Low PA - Hereditary hypertrophic neuropathy in the trembler mouse: 2. Histopathological studies: electron microscopy. J Neurol Sci 30: 343, 1976.         [ Links ]

74. Low PA, McLeod JG - Hereditary demyelinating neuropathy in the trembler mouse. J Neurol Sci 26: 565, 1975.         [ Links ]

75. Low PA, McLeod JG - Refractory period, conduction of trains of impulses and effect of temperature on conduction in chronic hypertrophic neuropathy: electrophysiological studies on the trembler mouse. J Neurol Neurosurg Psychiat 40: 434, 1977.         [ Links ]

76. Madrid RE, Jaros E, Cullen MJ et al - Genetically determined defect of Schwann cell basement membrane in dystrophic mouse. Nature (London) 257: 319, 1975.         [ Links ]

77. McComas AJ, Mrozek K - Denervated muscle fibres in hereditary mouse dystrophy. J Neurol Neurosurg Psychiat 30: 526, 1967.         [ Links ]

78. McComas AJ, Sica RE - Muscular dystrophy: myopathy or neuropathy? Lancet 1: 1119, 1970.         [ Links ]

79. McComas AJ, Sica RE, Currie S - Muscular dystrophy: evidence for a neural factor. Nature (London) 226: 1263, 1970.         [ Links ]

80. McComas AJ, Sica RE, Campbell MJ - «Sick motoneurones»: a unifying concept of muscle disease. Lancet 1: 321, 1971.         [ Links ]

81. McComas AJ, Sica RE, Currie S - An electrophysiological study of Duchenne dystrophy. J Neurol Neurosurg Psychiat 34: 461, 1971.         [ Links ]

82. Michelson AM, Russell ES, Harman PJ - Dystrophia muscularis: a hereditary primary myopathy in the house mouse. Proc Nat Acad Sci 41: 1079, 1955.         [ Links ]

83. Mitsumoto H et al - Vacuolated anterior horn cells in wobbler mouse motor neuron disease: peripheral axons and regenerative capacity. J Neuropathol Exper Neurol 46: 214, 1987.         [ Links ]

84. Moss TH - Segmental demyelination in the peripheral nerves of mice affected by a hereditary neuropathy (Dystonia musculorum). Acta Neuropathol (Berlin) 53: 51, 1981.         [ Links ]

85. Moss TH - Schwann cell involvement in the neurological lesion of the dystonic mutant mouse. J Neurol Sci 49: 207, 1981.         [ Links ]

86. Pai AC - Developmental genetics of a lethal mutation, muscular dysgenesis (mdg) in the mouse. Develop Biol 11: 82, 1965.         [ Links ]

87. Papapetroupolos TA, Bradley WG - Spinal motor neurons in murine muscular dystrophy and spinal muscular atrophy. J Neurol Neurosurg Psychiat 35: 60, 1972.         [ Links ]

88. Pearce GW, Walton JN - A histological study of muscle from the Bar Harbor strain of dystrophic mice. J Pathol Bacteriol 86: 25, 1963.         [ Links ]

89. Perkins S, Mizuno K, Aguayo AJ et al - Increased Schwann cell proliferation in trembler mouse nerves - quantitative microscopy and radioautography. Neurology 27: 377, 1977.         [ Links ]

90. Platzer A - Embryology of two murine muscle diseases: muscular dystrophy and muscular dysgenesis. Ann New York Acad Sci 317: 94, 1979.         [ Links ]

91. Platzer A, Gluecksohn-Waelsch S - Fine structure of mutant (Muscular dysgenesis) embryonic mouse muscle. Develop Biol 28: 242, 1971.         [ Links ]

92. Rieger F, Pincon-Raymond M - The motor innervation in motor end-plate disease (med) in the mouse: evidence for nerve abnormalities, prior to muscle damage. Inserm Symposium 14: 163, 1980.         [ Links ]

93. Rieger F, Pincon-Raymond M et al - Paranodal dysmyelination and increase in tetrodotoxin binding sites in the sciatic nerve of the motor end-plate disease (med/med) mouse during postnatal development. Develop Biol 101: 401, 1984.         [ Links ]

94. Samorajski T, Friede RL, Reimer PR - Hypomyelination in the quaking mouse: a model for the analysis of disturbed myelin formation. J Neuropathol Exper Neurol 29: 507, 1970.         [ Links ]

95. Scaravilli F, Duchen LW - The development of sensory ganglion cells in normal and Sprawling mutant mice. J Neurocytol 9: 363, 1980.         [ Links ]

96. Scaravilli F, Duchen LW - Electron microscopic and quantitative studies of cell necrosis in developing sensory ganglia in normal and Sprawling mutant mice. J Neurocytol 9: 373, 1980.         [ Links ]

97. Scaravilli F, Jacobs JM - Peripheral nerve grafts in hereditary leukodystrophy mutant mice (twitcher). Nature (London) 290: 56, 1981.         [ Links ]

98. Scaravilli F, Jacobs JM - Improved myelination in nerve grafts from the leucodystrophy twitcher into trembler mice: evidence for enzyme replacement. Brain Res 237: 163, 1982.         [ Links ]

99. Scaravilli F, Suzuki K - Enzyme replacement in grafted nerve of twitcher mouse. Nature (London) 305: 713, 1983.         [ Links ]

100. Schotland DL - Disorders of the Motor Unit. Wiley Medical, New York, 1982.         [ Links ]

101. Sidman RL, Dickie MM, Appel SH - Mutant mice (quaking and jimpy) with deficient myelination in the central nervous system. Science 144: 309, 1964.         [ Links ]

102. Sidman RL, Green MC, Appel SH - Catalog of the Neurological Mutants of the Mouse. Harvard University Press, Massachusetts, 1965.         [ Links ]

103. Sidman RL, Cowen JS, Eicher EM - Inherited muscle and nerve diseases in mice: a tabulation with commentary. Ann New York Acad Sci 317: 497, 1979.         [ Links ]

104. Stirling CA - Abnormalities in Schwann cell sheaths in spinal nerve roots of dystrophic mice. J Anatomy 119: 169, 1975.         [ Links ]

105. Tanabe Y, Esaki K, Nomura T - Skeletal muscle pathology in X-chromosome linked Muscular Dystrophy (mdx) Mouse. Acta Neuropathol (Berlin) 69: 91, 1986.         [ Links ]

106. Torres LFB - Muscle, motor end-plate and nerve in hereditary and experimental myopathies in the mouse. PhD Thesis, University of London, London, 1986.         [ Links ]

107. Torres LFB, Duchen LW - The mutant mdx: inherited myopathy in the mouse: morphological studies of nerves, muscles and end-plates. Brain 110: 269, 1987.         [ Links ]

108. Valsamis P, Wisniewski H, Morell P - Dysmyelogenesis in the quaking mouse: an ultrastructural study. J Neuropathol Exper Neurol 31: 190, 1972.         [ Links ]

109. Watanabe I, Bingle GJ - Dysmyelination in «quaking» mouse: electron microscopic study. J Neuropath Exper Neurol 31: 352, 1972.         [ Links ]

110. Watkins J, Watts DC - Biological features of the new A2G-adr mouse mutant with abnormal muscle function. Laborat Animals 18: 1, 1984.         [ Links ]

111. Watkins J, Watts RL, Watts D - Deficiency of fructose 1,6-biphosphate aldolase in type 2 muscle fibres of the A2G-adr mouse mutant with abnormal muscle function. Biochemical Soc Trans 7: 907, 1979.         [ Links ]

112. West WT, Murphy ED - Histopathology of hereditary progressive muscular dystrophy in inbred strain 129 mice. Anatomical Rec 137: 279, 1960.         [ Links ]

113. Wisniewski H, Morell P - Quaking mouse: ultrastructural evidence for arrest of myelinogenesis. Brain Res 29: 63, 1971.         [ Links ]

114. Zacks I, Sheff M, Rhodes M et al - MED myopathy: a new hereditary myopathy of mice. Laboratory Invest 21: 143, 1979.         [ Links ]

115. Zeman RJ, Sandow A - Denervation effects on dystrophic and normal muscles and the etiology of dystrophy. Ann New York Acad Sci 317: 171, 1979.         [ Links ]

 

 

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

Creative Commons License All the contents of this journal, except where otherwise noted, is licensed under a Creative Commons Attribution License