57 phenotypes from 3 alleles in 4 genetic backgrounds

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