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Mammalian Phenotype Ontology Annotations
Query Results - Summary
Symbol
Name
ID 		Vps54
VPS54 GARP complex subunit
MGI:2178798
57 phenotypes from 3 alleles in 4 genetic backgrounds
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Allelic Composition
Genetic Background		 Annotated Term Reference
Vps54em1(IMPC)Bay/Vps54+
C57BL/6N-Vps54em1(IMPC)Bay/BayMmucd 		abnormal embryo turning J:211773
abnormal visceral yolk sac morphology J:211773
embryonic growth retardation J:211773
Vps54em1(IMPC)Bay/Vps54em1(IMPC)Bay
C57BL/6N-Vps54em1(IMPC)Bay/BayMmucd 		preweaning lethality, complete penetrance J:211773
preweaning lethality, incomplete penetrance J:211773
Vps54Gt(RRI497)Byg/Vps54Gt(RRI497)Byg
involves: 129P2/OlaHsd * C57BL/6J 		abnormal myocardial fiber morphology J:104824
absent dorsal root ganglion J:104824
decreased spinal cord size J:104824
embryonic growth retardation J:104824
embryonic lethality during organogenesis, complete penetrance J:104824
Vps54Gt(RRI497)Byg/Vps54wr
involves: 129P2/OlaHsd * C57BL/6J 		decreased body weight J:104824
decreased grip strength J:104824
Vps54wr/Vps54wr
involves: C57BL/6J * C57BL/Fa 		abnormal GABA-mediated receptor currents J:181019
abnormal GABAergic neuron morphology J:181019
abnormal GABAergic neuron physiology J:181019
abnormal inhibitory postsynaptic currents J:181019
abnormal miniature inhibitory postsynaptic currents J:181019
abnormal synaptic bouton morphology J:181019
decreased miniature inhibitory postsynaptic current frequency J:181019
gliosis J:181019
increased microglial cell activation J:181019
motor neuron degeneration J:181019
progressive muscle weakness J:181019
Vps54wr/Vps54wr
multiple strains 		abnormal astrocyte morphology J:18368
abnormal axonal transport J:8186, J:14361
abnormal cell morphology J:5525
abnormal CNS synaptic transmission J:3719, J:15226, J:35070
abnormal endoplasmic reticulum morphology J:5525
abnormal gait J:1563, J:5102, J:6388
abnormal gametogenesis J:1563
abnormal grip strength J:5102
abnormal hepatocyte morphology J:6388
abnormal lysosome morphology J:5525
abnormal motor neuron morphology J:5102, J:19087
abnormal muscle physiology J:5102
abnormal myelination J:5331
abnormal nervous system morphology J:35069
abnormal nervous system physiology J:5525
abnormal nucleotide metabolism J:6029
abnormal posture J:5102
abnormal sciatic nerve morphology J:5331
abnormal skeletal muscle fiber morphology J:5102
abnormal spinal nerve morphology J:5331
asthenozoospermia J:1563
decreased body weight J:1563, J:5102, J:6388
decreased circulating estrogen level J:6029
decreased testis weight J:1563
demyelination J:5525
facial muscle atrophy J:5102
forelimb paralysis J:165, J:1563
gliosis J:1563
globozoospermia J:1563
infertility J:165, J:6388
limb grasping J:5102, J:6388
motor neuron degeneration J:5102, J:6238, J:6388, J:19087
muscle weakness J:5102
muscular atrophy J:5102, J:6388
oligozoospermia J:1563
premature death J:165
tremors J:165, J:5102
upturned snout J:6388
Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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Send questions and comments to User Support. 		last database update
11/12/2024
MGI 6.24 		The Jackson Laboratory