Mutation of Vps54 causes motor neuron disease and defective spermiogenesis in the wobbler mouse

Nat Genet. 2005 Nov;37(11):1213-5. doi: 10.1038/ng1661. Epub 2005 Oct 23.


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.

Publication types

  • Comparative Study
  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Amino Acid Sequence
  • Amyotrophic Lateral Sclerosis / genetics
  • Animals
  • Chromosomes, Artificial, Bacterial
  • Cloning, Molecular
  • Female
  • Male
  • Mice
  • Mice, Inbred C57BL
  • Mice, Neurologic Mutants
  • Mice, Transgenic
  • Molecular Sequence Data
  • Motor Neuron Disease / genetics*
  • Motor Neuron Disease / pathology
  • Mutation, Missense / genetics*
  • Sequence Homology, Amino Acid
  • Spermatogenesis / genetics*
  • Vesicular Transport Proteins / genetics*


  • Vesicular Transport Proteins
  • Vps54 protein, mouse

Associated data

  • OMIM/205100
  • OMIM/208085
  • OMIM/608627
  • RefSeq/NM_145425
  • RefSeq/NM_172792