Mutation of vps54 causes motor neuron disease and defective spermiogenesis in the wobbler mouse

ABSTRACT Vacuolar-vesicular protein sorting (Vps) factors are involved in vesicular trafficking in eukaryotic cells. We identified the missense mutation L967Q in Vps54 in the wobbler mouse,

an animal model of amyotrophic lateral sclerosis, and also characterized a lethal allele, _Vps54_β-geo. Motoneuron survival and spermiogenesis are severely compromised in the wobbler mouse,

indicating that Vps54 has an essential role in these processes. Access through your institution Buy or subscribe This is a preview of subscription content, access via your institution ACCESS

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institutional subscriptions * Read our FAQs * Contact customer support SIMILAR CONTENT BEING VIEWED BY OTHERS THE ALS-ASSOCIATED KIF5A P986L VARIANT IS NOT PATHOGENIC FOR _DROSOPHILA_

MOTONEURONS Article Open access 22 August 2024 LOSS OF FUNCTION MUTATIONS IN GEMIN5 CAUSE A NEURODEVELOPMENTAL DISORDER Article Open access 07 May 2021 REDUCED C9ORF72 FUNCTION LEADS TO

DEFECTIVE SYNAPTIC VESICLE RELEASE AND NEUROMUSCULAR DYSFUNCTION IN ZEBRAFISH Article Open access 25 June 2021 REFERENCES * Falconer, D.S. _Mouse News Letters_ 15, 22 (1956). Google Scholar

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assistance and Transgenic Animal Model Core of the University of Michigan's Biomedical Research Core Facilities, Center for Organogenesis, US National Institutes of Health, BayGenomics,

Ingenium Pharmaceuticals AG, Martinsried, Deutsche Forschungsgemeinschaft, Volkswagenstiftung, Fonds der Chemischen Industrieand NRW International Graduate School in Bioinformatics and

Genome Research for financial support. AUTHOR INFORMATION Author notes * Thomas Schmitt-John Present address: Department of Molecular Biology, University of Aarhus, Denmark AUTHORS AND

AFFILIATIONS * Developmental Biology and Molecular Pathology, Bielefeld University, Germany Thomas Schmitt-John, Carsten Drepper, Anke Mußmann, Phillip Hahn, Melanie Kuhlmann, Cora Thiel, 

Peter Heimann & Harald Jockusch * Research Group Infection Genetics, German Research Center for Biotechnology, Braunschweig, Germany Phillip Hahn & Andreas Lengeling * Department of

Experimental Immunology, German Research Center for Biotechnology, Braunschweig, Germany Martin Hafner * Department of Human Genetics, University of Michigan, Ann Arbor, Michigan, USA Julie

M Jones & Miriam H Meisler Authors * Thomas Schmitt-John View author publications You can also search for this author inPubMed Google Scholar * Carsten Drepper View author publications

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author inPubMed Google Scholar * Harald Jockusch View author publications You can also search for this author inPubMed Google Scholar CORRESPONDING AUTHOR Correspondence to Thomas

Schmitt-John. ETHICS DECLARATIONS COMPETING INTERESTS The authors declare no competing financial interests. SUPPLEMENTARY INFORMATION SUPPLEMENTARY FIG. 1 Rescue of wobbler mutants with the

BAC transgene containing _Vps54_. (PDF 414 kb) SUPPLEMENTARY FIG. 2 Characterization of the _Vps54_β_-geo_ gene trap allele. (PDF 217 kb) SUPPLEMENTARY FIG. 3 Phenotype analysis of

_Vps54_β_-geo/_β_-geo_ gene trap embryos. (PDF 842 kb) SUPPLEMENTARY METHODS (PDF 24 KB) RIGHTS AND PERMISSIONS Reprints and permissions ABOUT THIS ARTICLE CITE THIS ARTICLE Schmitt-John,

T., Drepper, C., Mußmann, A. _et al._ Mutation of _Vps54_ causes motor neuron disease and defective spermiogenesis in the wobbler mouse. _Nat Genet_ 37, 1213–1215 (2005).

https://doi.org/10.1038/ng1661 Download citation * Received: 03 June 2005 * Accepted: 30 August 2005 * Published: 23 October 2005 * Issue Date: 01 November 2005 * DOI:

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