Spinal muscular atrophy gene wobbler of the mouse: Evidence from chimeric spinal cord and testis for cell-autonomous function

Augustin M, Heimann P, Rathke S, Jockusch H (1997)
Developmental Dynamics 209(3): 286-295.

Zeitschriftenaufsatz | Veröffentlicht | Englisch
 
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Autor*in
Augustin, M; Heimann, PeterUniBi; Rathke, S; Jockusch, HaraldUniBi
Abstract / Bemerkung
Human hereditary neurodegenerative diseases are genetically and mechanistically very heterogeneous and so are spinal muscular atrophies and cerebellar ataxias in the mouse, despite the common phenomenon of neuronal death. In this species, a number of mutations impair spermiogenesis in addition to neuron survival. Among these, the wobbler mutation on proximal chromosome 11 of the mouse leads to motoneuron degeneration in brain stem and spinal cord and to a defect of spermiogenesis. Chimeric mice of the type wr?/wr? - +/+ were produced, and their allelic status at the wr locus was determined by PCR diagnosis of a closely Linked marker. Two overt chimeras, one female (XX <----> XX) and one male (XY <----> XY) were identified as wr/wr H +/+ and analyzed with respect to their pathological phenotype. Although there was patchy astrogliosis in the spinal cords of both chimeras, their motor performances were overtly normal and muscles were without signs of denervation. The male's testes revealed a mosaic pattern of normal and pathological spermatids. As no progeny was derived from wr spermatids, the spermatocytes appear as a primary target of the wr mutation in testis. Our results argue against a humoral mechanism of the wobbler disease and indicate a cell-autonomous action of the wr gene both in testis and in spinal cord. (C) 1997 Wiley-Liss, Inc.
Stichworte
chimeric (allophenic) mice; spermiogenesis; sperm defect; acrosome; astrogliosis; spinal muscular atrophy (SMA)
Erscheinungsjahr
1997
Zeitschriftentitel
Developmental Dynamics
Band
209
Ausgabe
3
Seite(n)
286-295
ISSN
1058-8388
eISSN
1097-0177
Page URI
https://pub.uni-bielefeld.de/record/1627945

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Augustin M, Heimann P, Rathke S, Jockusch H. Spinal muscular atrophy gene wobbler of the mouse: Evidence from chimeric spinal cord and testis for cell-autonomous function. Developmental Dynamics. 1997;209(3):286-295.
Augustin, M., Heimann, P., Rathke, S., & Jockusch, H. (1997). Spinal muscular atrophy gene wobbler of the mouse: Evidence from chimeric spinal cord and testis for cell-autonomous function. Developmental Dynamics, 209(3), 286-295. https://doi.org/10.1002/(SICI)1097-0177(199707)209:3<286::AID-AJA4>3.0.CO;2-E
Augustin, M, Heimann, Peter, Rathke, S, and Jockusch, Harald. 1997. “Spinal muscular atrophy gene wobbler of the mouse: Evidence from chimeric spinal cord and testis for cell-autonomous function”. Developmental Dynamics 209 (3): 286-295.
Augustin, M., Heimann, P., Rathke, S., and Jockusch, H. (1997). Spinal muscular atrophy gene wobbler of the mouse: Evidence from chimeric spinal cord and testis for cell-autonomous function. Developmental Dynamics 209, 286-295.
Augustin, M., et al., 1997. Spinal muscular atrophy gene wobbler of the mouse: Evidence from chimeric spinal cord and testis for cell-autonomous function. Developmental Dynamics, 209(3), p 286-295.
M. Augustin, et al., “Spinal muscular atrophy gene wobbler of the mouse: Evidence from chimeric spinal cord and testis for cell-autonomous function”, Developmental Dynamics, vol. 209, 1997, pp. 286-295.
Augustin, M., Heimann, P., Rathke, S., Jockusch, H.: Spinal muscular atrophy gene wobbler of the mouse: Evidence from chimeric spinal cord and testis for cell-autonomous function. Developmental Dynamics. 209, 286-295 (1997).
Augustin, M, Heimann, Peter, Rathke, S, and Jockusch, Harald. “Spinal muscular atrophy gene wobbler of the mouse: Evidence from chimeric spinal cord and testis for cell-autonomous function”. Developmental Dynamics 209.3 (1997): 286-295.

6 Zitationen in Europe PMC

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The wobbler mouse, an ALS animal model.
Moser JM, Bigini P, Schmitt-John T., Mol Genet Genomics 288(5-6), 2013
PMID: 23539154
Failure of acrosome formation and globozoospermia in the wobbler mouse, a Vps54 spontaneous recessive mutant.
Paiardi C, Pasini ME, Gioria M, Berruti G., Spermatogenesis 1(1), 2011
PMID: 21866276
Cell therapy and stem cells in animal models of motor neuron disorders.
Hedlund E, Hefferan MP, Marsala M, Isacson O., Eur J Neurosci 26(7), 2007
PMID: 17897390
Mutation of Vps54 causes motor neuron disease and defective spermiogenesis in the wobbler mouse.
Schmitt-John T, Drepper C, Mussmann A, Hahn P, Kuhlmann M, Thiel C, Hafner M, Lengeling A, Heimann P, Jones JM, Meisler MH, Jockusch H., Nat Genet 37(11), 2005
PMID: 16244655
The wobbler mouse: a neurodegeneration jigsaw puzzle.
Boillée S, Peschanski M, Junier MP., Mol Neurobiol 28(1), 2003
PMID: 14514986
Genetic modifiers that aggravate the neurological phenotype of the wobbler mouse.
Ulbrich M, Schmidt VC, Ronsiek M, Mussmann A, Bartsch JW, Augustin M, Jockusch H, Schmitt-John T., Neuroreport 13(4), 2002
PMID: 11930176

41 References

Daten bereitgestellt von Europe PubMed Central.

The loss of motorneurons corresponding to specific muscles in the wobbler mutant mouse.
Baulac M, Rieger F, Meininger V., Neurosci. Lett. 37(1), 1983
PMID: 6877663
Abnormal spermiogenesis in quaking, a myelin-deficient mutant mouse.
Bennett WI, Gall AM, Southard JL, Sidman RL., Biol. Reprod. 5(1), 1971
PMID: 5166852
Brain and ganglion development from two genotypic classes of cells in allophenic mice.
Dewey MJ, Gervais AG, Mintz B., Dev. Biol. 50(1), 1976
PMID: 1269835
A comprehensive genetic map of the mouse genome.
Dietrich WF, Miller J, Steen R, Merchant MA, Damron-Boles D, Husain Z, Dredge R, Daly MJ, Ingalls KA, O'Connor TJ., Nature 380(6570), 1996
PMID: 8600386

Falconer, Mouse News Letters 15(), 1956
Solitary cells and enzyme exchange in tetraparental mice.
Feder N., Nature 263(5572), 1976
PMID: 986562
An improved perfusion fixation method for the testis.
Forssmann WG, Ito S, Weihe E, Aoki A, Dym M, Fawcett DW., Anat. Rec. 188(3), 1977
PMID: 332010
Analysis of the hotfoot (ho) locus by creation of an insertional mutation in a transgenic mouse.
Gordon JW, Uehlinger J, Dayani N, Talansky BE, Gordon M, Rudomen GS, Neumann PE., Dev. Biol. 137(2), 1990
PMID: 1689261
Transplantation in the mouse model--the use of a Y-chromosome-specific DNA clone to identify donor cells in situ.
Grounds MD, Lai MC, Fan Y, Codling JC, Beilharz MW., Transplantation 52(6), 1991
PMID: 1750076
Male sterility caused by p6H and qk mutations is not corrected in chimeric mice.
Handel MA, Washburn LL, Rosenberg MP, Eicher EM., J. Exp. Zool. 243(1), 1987
PMID: 3612058
Abnormal astrocyte differentiation and defective cellular interactions in wobbler mouse spinal cord.
Hantaz-Ambroise D, Blondet B, Murawsky M, Rieger F., J. Neurocytol. 23(3), 1994
PMID: 8006678
Male-sterile phenotype of the neurological mouse mutant weaver.
Harrison SM, Roffler-Tarlov S., Dev. Dyn. 200(1), 1994
PMID: 8081012
Defect of sperm assembly in a neurological mutant of the mouse, wobbler (WR).
Heimann P, Laage S, Jockusch H., Differentiation 47(2), 1991
PMID: 1955109
Nucleotide sequence of the mouse muscle nicotinic acetylcholine receptor alpha subunit.
Isenberg KE, Mudd J, Shah V, Merlie JP., Nucleic Acids Res. 14(12), 1986
PMID: 3755237
Transforming growth factor alpha (TGF alpha) expression in degenerating motoneurons of the murine mutant wobbler: a neuronal signal for astrogliosis?
Junier MP, Coulpier M, Le Forestier N, Cadusseau J, Suzuki F, Peschanski M, Dreyfus PA., J. Neurosci. 14(7), 1994
PMID: 8027772
Wobbler, a mutation affecting motoneuron survival and gonadal functions in the mouse, maps to proximal chromosome 11.
Kaupmann K, Simon-Chazottes D, Guenet JL, Jockusch H., Genomics 13(1), 1992
PMID: 1349581
Insertional mutation in a transgenic mouse allelic with Purkinje cell degeneration.
Krulewski TF, Neumann PE, Gordon JW., Proc. Natl. Acad. Sci. U.S.A. 86(10), 1989
PMID: 2726749
Exclusion of two candidate genes, Spnb-2 and Dcd, for the wobbler spinal muscular atrophy gene on proximal mouse chromosome 11.
Lengeling A, Zimmer WE, Goodman SR, Ma Y, Bloom ML, Bruneau G, Krieger M, Thibault J, Kaupmann K, Jockusch H., Mamm. Genome 5(3), 1994
PMID: 8199405
Towards construction of a high resolution map of the mouse genome using PCR-analysed microsatellites.
Love JM, Knight AM, McAleer MA, Todd JA., Nucleic Acids Res. 18(14), 1990
PMID: 2377456

McLaren, 1976

Mintz, 1971
Arrest of motor neuron disease in wobbler mice cotreated with CNTF and BDNF.
Mitsumoto H, Ikeda K, Klinkosz B, Cedarbaum JM, Wong V, Lindsay RM., Science 265(5175), 1994
PMID: 8066451
Purkinje cell degeneration, a new neurological mutation in the mouse.
Mullen RJ, Eicher EM, Sidman RL., Proc. Natl. Acad. Sci. U.S.A. 73(1), 1976
PMID: 1061118
Studies of Sl/Sld in equilibrium with +/+ mouse aggregation chimaeras. II. Effect of the steel locus on spermatogenesis.
Nakayama H, Kuroda H, Onoue H, Fujita J, Nishimune Y, Matsumoto K, Nagano T, Suzuki F, Kitamura Y., Development 102(1), 1988
PMID: 3416769
A potassium channel mutation in weaver mice implicates membrane excitability in granule cell differentiation.
Patil N, Cox DR, Bhat D, Faham M, Myers RM, Peterson AS., Nat. Genet. 11(2), 1995
PMID: 7550338
The mouse neurological mutant weaver maps within the region of chromosome 16 that is homologous to human chromosome 21.
Reeves RH, Crowley MR, Lorenzon N, Pavan WJ, Smeyne RJ, Goldowitz D., Genomics 5(3), 1989
PMID: 2575584
The mouse homolog to the ras-related yeast gene YPT1 maps on chromosome 11 close to the wobbler (wr) locus.
Wichmann H, Jockusch H, Guenet JL, Gallwitz D, Kaupmann K., Mamm. Genome 3(8), 1992
PMID: 1643310
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