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Phenotypes Associated with This Genotype
Genotype
MGI:5490471
Allelic
Composition
Vps54wr/Vps54wr
Genetic
Background
involves: C57BL/6J * C57BL/Fa
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Vps54wr mutation (3 available); any Vps54 mutation (262 available)
phenotype observed in females
phenotype observed in males
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
• 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
• current threshold is significantly lower in mutant mice, however polarization voltage is similar between mutant and control
• 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 ID Ref(s)
Amyotrophic Lateral Sclerosis 1; ALS1 105400 J:181019 , J:196432


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
08/17/2016
MGI 6.05
The Jackson Laboratory