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

Thomas Schmitt-John; Carsten Drepper; Anke Mussmann; Phillip Hahn; Melanie Kuhlmann; Cora Thiel; Martin Hafner; Andreas Lengeling; Peter Heimann; Julie M Jones; Miriam H Meisler; Harald Jockusch

doi:10.1038/ng1661

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.

Authors

Thomas Schmitt-John¹, Carsten Drepper, Anke Mussmann, Phillip Hahn, Melanie Kuhlmann, Cora Thiel, Martin Hafner, Andreas Lengeling, Peter Heimann, Julie M Jones, Miriam H Meisler, Harald Jockusch

Affiliation

¹ Developmental Biology and Molecular Pathology, Bielefeld University, Germany. [email protected]

PMID: 16244655
DOI: 10.1038/ng1661

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.

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*

Substances

Vesicular Transport Proteins
Vps54 protein, mouse

Associated data

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