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
Download
Es wurden keine Dateien hochgeladen. Nur Publikationsnachweis!
Autor*in
Augustin, M;
Heimann, PeterUniBi;
Rathke, S;
Jockusch, HaraldUniBi
Einrichtung
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
Zitieren
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.
Daten bereitgestellt von European Bioinformatics Institute (EBI)
UNIPROT
5 Einträge gefunden, die diesen Artikel zitieren
Vacuolar protein sorting-associated protein 54 (UNIPROT: Q5SRW8)
Organism: Mus musculus
Download in FASTA format
Organism: Mus musculus
Download in FASTA format
Vacuolar protein sorting-associated protein 54 (UNIPROT: Q5SPW0)
Organism: Mus musculus
Download in FASTA format
Organism: Mus musculus
Download in FASTA format
6 Zitationen in Europe PMC
Daten bereitgestellt von Europe PubMed Central.
The wobbler mouse, an ALS animal model.
Moser JM, Bigini P, Schmitt-John T., Mol Genet Genomics 288(5-6), 2013
PMID: 23539154
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
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
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
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
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
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
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
Bennett WI, Gall AM, Southard JL, Sidman RL., Biol. Reprod. 5(1), 1971
PMID: 5166852
Sperm phenotype and its relationship to somatic and germ line genotype: a study using mouse aggregation chimeras.
Burgoyne PS., Dev. Biol. 44(1), 1975
PMID: 1169179
Burgoyne PS., Dev. Biol. 44(1), 1975
PMID: 1169179
Single-step method of RNA isolation by acid guanidinium thiocyanate-phenol-chloroform extraction.
Chomczynski P, Sacchi N., Anal. Biochem. 162(1), 1987
PMID: 2440339
Chomczynski P, Sacchi N., Anal. Biochem. 162(1), 1987
PMID: 2440339
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
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
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
An hereditary motor neurone disease with progressive denervation of muscle in the mouse: the mutant 'wobbler'.
Duchen LW, Strich SJ., J. Neurol. Neurosurg. Psychiatry 31(6), 1968
PMID: 5709840
Duchen LW, Strich SJ., J. Neurol. Neurosurg. Psychiatry 31(6), 1968
PMID: 5709840
The quaking gene product necessary in embryogenesis and myelination combines features of RNA binding and signal transduction proteins.
Ebersole TA, Chen Q, Justice MJ, Artzt K., Nat. Genet. 12(3), 1996
PMID: 8589716
Ebersole TA, Chen Q, Justice MJ, Artzt K., Nat. Genet. 12(3), 1996
PMID: 8589716
Falconer, Mouse News Letters 15(), 1956
Solitary cells and enzyme exchange in tetraparental mice.
Feder N., Nature 263(5572), 1976
PMID: 986562
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
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
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
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
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
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
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
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
Isenberg KE, Mudd J, Shah V, Merlie JP., Nucleic Acids Res. 14(12), 1986
PMID: 3755237
[Neuromuscular interactions--tendencies toward a biochemical-genetic analysis].
Jockusch H., Naturwissenschaften 64(5), 1977
PMID: 329151
Jockusch H., Naturwissenschaften 64(5), 1977
PMID: 329151
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
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
Kaupmann K, Simon-Chazottes D, Guenet JL, Jockusch H., Genomics 13(1), 1992
PMID: 1349581
Pleiotropic action of the murine quaking locus: structure of the qkv allele.
King TR, Dove WF., Mamm. Genome 1(1), 1991
PMID: 1665374
King TR, Dove WF., Mamm. Genome 1(1), 1991
PMID: 1665374
The gene for cytoplasmatic malate dehydrogenase, Mor2, is closely linked to the wobbler spinal muscular atrophy gene (wr).
Korthaus D, Wedemeyer N, Wiegand C, Jockusch H., Mamm. Genome 7(3), 1996
PMID: 9162260
Korthaus D, Wedemeyer N, Wiegand C, Jockusch H., Mamm. Genome 7(3), 1996
PMID: 9162260
The mouse homologue of the human acidic ribosomal phosphoprotein PO: a highly conserved polypeptide that is under translational control.
Krowczynska AM, Coutts M, Makrides S, Brawerman G., Nucleic Acids Res. 17(15), 1989
PMID: 2771657
Krowczynska AM, Coutts M, Makrides S, Brawerman G., Nucleic Acids Res. 17(15), 1989
PMID: 2771657
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
Krulewski TF, Neumann PE, Gordon JW., Proc. Natl. Acad. Sci. U.S.A. 86(10), 1989
PMID: 2726749
Astrocyte overgrowth in the brain stem and spinal cord of mice affected by spinal atrophy, wobbler.
Laage S, Zobel G, Jockusch H., Dev. Neurosci. 10(3), 1988
PMID: 3142758
Laage S, Zobel G, Jockusch H., Dev. Neurosci. 10(3), 1988
PMID: 3142758
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
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
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
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
Mullen RJ, Eicher EM, Sidman RL., Proc. Natl. Acad. Sci. U.S.A. 73(1), 1976
PMID: 1061118
Site of pcd gene action and Purkinje cell mosaicism in cerebella of chimaeric mice.
Mullen RJ., Nature 270(5634), 1977
PMID: 593342
Mullen RJ., Nature 270(5634), 1977
PMID: 593342
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
Nakayama H, Kuroda H, Onoue H, Fujita J, Nishimune Y, Matsumoto K, Nagano T, Suzuki F, Kitamura Y., Development 102(1), 1988
PMID: 3416769
Application of Y chromosomal repetitive sequences to sexing mouse embryos.
Nishioka Y., Teratology 38(2), 1988
PMID: 3175952
Nishioka Y., Teratology 38(2), 1988
PMID: 3175952
A description of spermiogenesis in the mouse and its use in analysis of the cycle of the seminiferous epithelium and germ cell renewal.
OAKBERG EF., Am. J. Anat. 99(3), 1956
PMID: 13402725
OAKBERG EF., Am. J. Anat. 99(3), 1956
PMID: 13402725
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
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
Reeves RH, Crowley MR, Lorenzon N, Pavan WJ, Smeyne RJ, Goldowitz D., Genomics 5(3), 1989
PMID: 2575584
Expression of nerve-regulated genes in muscles of mouse mutants affected by spinal muscular atrophies and muscular dystrophies.
Sedehizade F, Klocke R, Jockusch H., Muscle Nerve 20(2), 1997
PMID: 9040657
Sedehizade F, Klocke R, Jockusch H., Muscle Nerve 20(2), 1997
PMID: 9040657
YAC contigs of the Rab1 and wobbler (wr) spinal muscular atrophy gene region on proximal mouse chromosome 11 and of the homologous region on human chromosome 2p.
Wedemeyer N, Lengeling A, Ronsiek M, Korthaus D, Baer K, Wuttke M, Jockusch H., Genomics 32(3), 1996
PMID: 8838809
Wedemeyer N, Lengeling A, Ronsiek M, Korthaus D, Baer K, Wuttke M, Jockusch H., Genomics 32(3), 1996
PMID: 8838809
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
Wichmann H, Jockusch H, Guenet JL, Gallwitz D, Kaupmann K., Mamm. Genome 3(8), 1992
PMID: 1643310
Export
Markieren/ Markierung löschen
Markierte Publikationen
Web of Science
Dieser Datensatz im Web of Science®Quellen
PMID: 9215643
PubMed | Europe PMC
Suchen in