Mouse Genome Informatics
hm
    Vps54wr/Vps54wr
involves: C57BL/6J * C57BL/Fa
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
       
nervous system
• microglia activation accompanies motor neuron degeneration
• reactive gliosis accompanies motor neuron degeneration
• decrease in density of parvalbumin-positive neurons in layer 5 of the primary motor cortex
• decrease in density of somatostatin-positive neurons in layer 5 of the primary motor cortex
• decrease in optical density of GABAergic synaptic boutons as assessed by VGAT staining in layer 5 of the primary motor cortex
• decrease in optical density of GABAergic synaptic boutons as assessed by VGAT staining in layer 5 of the primary motor cortex
• layer 5 pyramidal neurons exhibit increased excitability as a result of decreased GABAergic inhibition
• current threshold is significantly lower in mutant mice, however polarization voltage is similar between mutant and control
• mutant mice exhibit a down regulation in phasic and tonic GABA(a) receptor-mediated currents
• mice exhibit an 87% reduction in average tonic current densities (pA/pF) as compared to controls
• input resistance in layer 5 pyramidal neurons is increased in mutant mice as compared to controls
• individual spontaneous inhibitory post synaptic currents (sIPSC) display smaller amplitudes, however mean amplitude is not statistically different in whole-cell voltage-clamp recordings from layer 5 pyramidal neurons
• sIPSC frequency is 28% lower than controls
• whole cell recordings of miniature IPSC (mIPSC) in layer 5 pyramidal neurons detect an increase in weighted decay time constant, but no differences in amplitude or rise time
• mIPSC frequency is 36% lower than controls

muscle
• mice develop muscle weakness in the forelimbs beginning at 3-4 weeks

immune system
• microglia activation accompanies motor neuron degeneration

hematopoietic system
• microglia activation accompanies motor neuron degeneration

Mouse Models of Human Disease
OMIM IDRef(s)
Amyotrophic Lateral Sclerosis 1; ALS1 105400 J:181019 , J:196432