Nature Genetics 37, 1213 - 1215 (2005)
Published online: 23 October 2005; | doi:10.1038/ng1661
Mutation of Vps54 causes motor neuron disease and defective spermiogenesis in the wobbler mouseThomas Schmitt-John1, 5, Carsten Drepper1, Anke Mu mann1, Phillip Hahn1, 2, Melanie Kuhlmann1, Cora Thiel1, Martin Hafner3, Andreas Lengeling2, Peter Heimann1, Julie M Jones4, Miriam H Meisler4
& Harald Jockusch11
Developmental Biology and Molecular Pathology, Bielefeld University, Germany. 2
Research Group Infection Genetics, German Research Center for Biotechnology, Braunschweig, Germany. 3
Department of Experimental Immunology, German Research Center for Biotechnology, Braunschweig, Germany. 4
Department of Human Genetics, University of Michigan, Ann Arbor, Michigan, USA. 5
Present address: Department of Molecular Biology, University of Aarhus, Denmark.
Correspondence should be addressed to Thomas Schmitt-John tsj@mb.au.dk 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
 -geo. Motoneuron survival and spermiogenesis are severely compromised in the wobbler mouse, indicating that Vps54 has an essential role in these processes.
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