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Published on: May 12, 2016
Mutation of Vps54 causes motor neuron disease and defective spermiogenesis in the wobbler mouse
Thomas Schmitt-John1, Carsten Drepper, Anke Mussmann
1Developmental Biology and Molecular Pathology, Bielefeld University, Germany. tsj@mb.au.dk
Nature Genetics
|October 26, 2005
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(beta-geo). Motoneuron survival and spermiogenesis are severely compromised in the wobbler mouse, indicating that Vps54 has an essential role in these processes.

