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.

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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.
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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.
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.
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Genetic modifiers that aggravate the neurological phenotype of the wobbler mouse.
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41 References

Data provided by Europe PubMed Central.

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
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
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
Solitary cells and enzyme exchange in tetraparental mice.
Feder N., Nature 263(5572), 1976
PMID: 986562
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
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
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
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
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
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

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