• PMID: 16244655
• Gene Name: VPS54
• Condition: Defective speramtogenesis
• Association: Associated
• Sex: Male
• Infertility type: Male infertility
• Other associated phenotypes: Defective speramtogenesis

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.

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. FAU - Schmitt-John, Thomas AU - Schmitt-John T AD - Developmental Biology and Molecular Pathology, Bielefeld University, Germany. tsj@mb.au.dk FAU - Drepper, Carsten AU - Drepper C FAU - Mussmann, Anke AU - Mussmann A FAU - Hahn, Phillip AU - Hahn P FAU - Kuhlmann, Melanie AU - Kuhlmann M FAU - Thiel, Cora AU - Thiel C FAU - Hafner, Martin AU - Hafner M FAU - Lengeling, Andreas AU - Lengeling A FAU - Heimann, Peter AU - Heimann P FAU - Jones, Julie M AU - Jones JM FAU - Meisler, Miriam H AU - Meisler MH