Mutation of Vps54 causes motor neuron disease and defective spermiogenesis in the wobbler mouse.
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.
Schmitt-John
Thomas
T
Developmental Biology and Molecular Pathology, Bielefeld University, Germany. tsj@mb.au.dk
Drepper
Carsten
C
Mussmann
Anke
A
Hahn
Phillip
P
Kuhlmann
Melanie
M
Thiel
Cora
C
Hafner
Martin
M
Lengeling
Andreas
A
Heimann
Peter
P
Jones
Julie M
JM
Meisler
Miriam H
MH
Jockusch
Harald
H
D000595:Amino Acid Sequence; D000690:Amyotrophic Lateral Sclerosis / Q000235:genetics; D000818:Animals; D022202:Chromosomes, Artificial, Bacterial; D003001:Cloning, Molecular; D005260:Female; D008297:Male; D051379:Mice; D008810:Mice, Inbred C57BL; D008818:Mice, Neurologic Mutants; D008822:Mice, Transgenic; D008969:Molecular Sequence Data; D016472:Motor Neuron Disease / Q000235:genetics* / Q000473:pathology; D020125:Mutation, Missense / Q000235:genetics*; D017386:Sequence Homology, Amino Acid; D013091:Spermatogenesis / Q000235:genetics*; D033921:Vesicular Transport Proteins / Q000235:genetics*
D033921:Vesicular Transport Proteins; C486750:Vps54 protein, mouse