| First Author | Schmitt-John T | Year | 2005 |
| Journal | Nat Genet | Volume | 37 |
| Issue | 11 | Pages | 1213-5 |
| PubMed ID | 16244655 | Mgi Jnum | J:104824 |
| Mgi Id | MGI:3612827 | Doi | 10.1038/ng1661 |
| Citation | Schmitt-John T, et al. (2005) Mutation of Vps54 causes motor neuron disease and defective spermiogenesis in the wobbler mouse. Nat Genet 37(11):1213-5 |
| abstractText | 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. |
