An hereditary motor neurone disease with progressive denervation of muscle in the mouse: the mutant 'wobbler'.

Duchen, L. W.; Strich, Sabina J.

doi:10.1136/jnnp.31.6.535

Cited by 269 publications

(142 citation statements)

References 12 publications

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“…Among the best characterized of these are quaking (qk) (Sidman et al, 1964;Samorajski et al, 1970;Bennett et al, 1971), Purkinje cell degeneration (pcd) (Mullen et al, 1976;Handel and Dawson, 19811, and wobbler (wr) (Duchen and Strich, 1968;Leestma and Sepsenwol, 1980;Heimann et al, 1991). All of these mutations are autosomal recessive and all cause motor deficits as well as sterility in homozygous mutant mice.…”

Section: Discussionmentioning

confidence: 99%

Male‐sterile phenotype of the neurological mouse mutant weaver

Harrison

Roffler-Tarlov

1994

Developmental Dynamics

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The autosomal recessive murine mutation weauer (wu) affects postnatal differentiation in at least three neuronal populations in the brain: dopamine-containing neurons in the midbrain, and granule and Purkinje cells in the cerebellum. Neuronal populations vulnerable to the actions of weaver die in the midst of development. In addition, homozygous weaver males are sterile. We show by a histological analysis of epididymides and testes that the cause of male sterility in weaver is lack of sperm. The epididymides of the adult weaver mice examined were devoid of sperm, and few seminiferous tubules in the adult weaver's testes contained elongated spermatids. Most tubules were marked by moderate to severe degeneration of the seminiferous epithelium. A developmental study showed that the mutant phenotype emerged after the third postnatal week. By postnatal day 28, the development of weaver sperm lagged behind that of the wild-type and some seminiferous tubules contained degenerating germ cells. By postnatal day 35, terminal differentiation of spermatids appeared to be arrested in many tubules and degeneration of the seminiferous epithelium was widespread. The heterozygotes were unaffected at all ages sampled. We conclude that the normal allele at the weaver locus is necessary for spermiogenesis and the maintenance of spermatogenesis. 0 1994 Wiley-Liss, Inc.

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Section: Discussionmentioning

confidence: 99%

Male‐sterile phenotype of the neurological mouse mutant weaver

Harrison

Roffler-Tarlov

1994

Developmental Dynamics

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“…These include protection of motoneurons against lesion effects and protective effects on the progression of degenerative changes in animal mutants such as the pmn mouse (91), which exhibits characteristics similar to ALS (15) , the mnd mouse (61,62), and the wobbler mutant (22,43,82), in which the paretic manifestations become apparent predominantly in the forelegs and do not reach levels as extreme as those in the case of the pmn mutant (91). Very recently, transgenic mice with a neuron-specific overexpression of light and heavy neurofilament chains have been created (16 , 106) which show morphological changes of myelinating axons with similarities to the pathological picture of ALS patients (15).…”

Section: Criteria For Selecting Neurotrophic Molecules For Clinical Tmentioning

confidence: 99%

Trophic Support of Motoneurons: Physiological, Pathophysiological, and Therapeutic Implications

Thoenen¹,

Hughes²,

Sendtner³

1993

Experimental Neurology

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“…Highest levels were found from embryonic days [13][14][15][16]. After that period NT-3 expression in the adult spinal cord decreased up to postnatal day I and could not be detected in the adult rat spinal cord.…”

Section: The Nerve-growth-factor Gene Family: Unresolved Functions Fomentioning

confidence: 99%

“…AFM supports a broad spectrum of research activities in the field of motoneuron diseases, which includes the development of new monoclonal antibodies for spinal motoneurons, the establishment of motoneuron cell lines and the grafting of motoneurons. Furthermore, Mrs Lagrange reported on research efforts of French groups on the creation of new mouse models for neuromuscular disease using genetic manipulation techniques, and the molecular analysis of the genetic defect of the "wobbler mouse" , a wellknown mouse mutant, which suffers from a yet unknown genetic defect leading to the degeneration of bulbar and spinal motoneurons [13][14][15].…”

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confidence: 99%