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WormBase Tree Display for Variation: WBVar00000015

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Name Class

WBVar00000015EvidencePaper_evidenceWBPaper00031996
NamePublic_namead467
Other_nameB0365.3.2:c.1075C>T
CE07721:p.Leu359Phe
B0365.3.1:c.1075C>T
HGVSgCHROMOSOME_V:g.13128723G>A
Sequence_detailsSMapS_parentSequenceB0365
Flanking_sequencestctaccatttgctctgataagacaggaacttcacccaaaacagaatgactgtcgctcaca
Mapping_targetB0365
Type_of_mutationSubstitutionctPaper_evidenceWBPaper00031996
SeqStatusSequenced
Variation_typeAllele
OriginSpeciesCaenorhabditis elegans
StrainWBStrain00005464
WBStrain00005507
WBStrain00054586
LaboratoryDA
StatusLive
AffectsGeneWBGene00001137
TranscriptB0365.3.2 (12)
B0365.3.1 (12)
InteractorWBInteraction000503690
WBInteraction000503691
WBInteraction000518921
WBInteraction000541752
WBInteraction000541753
GeneticsInterpolated_map_positionV4.93809
Mapping_dataIn_2_point5213
In_multi_point1837
1839
1840
1841
2403
2404
In_pos_neg_data5212
5214
5215
7050
DescriptionPhenotypeWBPhenotype:0000016Paper_evidenceWBPaper00031996
Curator_confirmedWBPerson712
Remarkeat-6(ad467) mutants were paralzyed faster than wild-type animals; however, aldicarb hypersensitivity was milder than that of the eat-6(ad601) animals.Paper_evidenceWBPaper00031996
Curator_confirmedWBPerson712
Affected_byMoleculeWBMol:00003650Paper_evidenceWBPaper00031996
Curator_confirmedWBPerson712
EQ_annotationsAnatomy_termWBbt:0007833PATO:0001549Paper_evidenceWBPaper00031996
Curator_confirmedWBPerson712
Phenotype_assayTreatment25 young-adult animals were placed on an agar plate containing 1 mM aldicarb. Paralysis was examined by probing the animals with a thin glass picker every 10 min. The animals were defined as 'paralyzed' if they showed no body-bending across the midline (see Doi and Iwasaki, 2002).Paper_evidenceWBPaper00031996
Curator_confirmedWBPerson712
WBPhenotype:0000019Paper_evidenceWBPaper00031996
Curator_confirmedWBPerson712
RemarkAnimals exhibited the strongest pumping defect compared to ad601 and ad997. Pump-dead EAT-6 did not rescue this pharyngeal pumping defect.Paper_evidenceWBPaper00031996
Curator_confirmedWBPerson712
Phenotype_assayTreatmentAnimals were measured for number of pharyngeal pumps in 30 sec (n=12).Paper_evidenceWBPaper00031996
Curator_confirmedWBPerson712
WBPhenotype:0000124Paper_evidenceWBPaper00003150
Curator_confirmedWBPerson712
RemarkMembrane associated Na, K -ATPase from the mutant showed significantly lower overall activity than that of WT although there were no significant kinetic differences between the two.Paper_evidenceWBPaper00003150
Curator_confirmedWBPerson712
WBPhenotype:0000154Paper_evidenceWBPaper00031996
Curator_confirmedWBPerson712
RemarkAnimals exhibited the strongest brood size defect compared to ad601 and ad997. Pump-dead EAT-6 did not rescue this brood size defect.Paper_evidenceWBPaper00031996
Curator_confirmedWBPerson712
WBPhenotype:0000330Paper_evidenceWBPaper00001709
Person_evidenceWBPerson261
Curator_confirmedWBPerson2021
WBPerson712
RemarkStrong relaxation defective. Corpus and terminal bulb motions are abnormalPaper_evidenceWBPaper00001709
Curator_confirmedWBPerson2021
Strong relaxation-defective. Pharynx oftens fails to relax, or relaxes slowly. There are long yawns, where the corpus stays open for seconds, punctuated with erratic partial relaxations. The terminal bulb is usually more strongly affected than the corpus, but the motions of the two are precisely synchronized. Relaxation transient is reduced in size in electropharyngeograms.Person_evidenceWBPerson261
Curator_confirmedWBPerson712
EQ_annotationsAnatomy_termWBbt:0003681PATO:0000460Paper_evidenceWBPaper00001709
Curator_confirmedWBPerson2021
Life_stageWBls:0000024PATO:0000460Paper_evidenceWBPaper00001709
Curator_confirmedWBPerson2021
WBPhenotype:0000332Person_evidenceWBPerson261
Curator_confirmedWBPerson712
RemarkHypersensitive to inhibitors of Na/K ATPase.Person_evidenceWBPerson261
Curator_confirmedWBPerson712
WBPhenotype:0000420Paper_evidenceWBPaper00031996
Curator_confirmedWBPerson712
RemarkAnimals exhibited paralysis sooner than wild-type animals but not as fast as eat-6(ad601) animals. Sensitivity was restored by EAT-6(D409E), a pump-dead Na+/K+ ATPase. Muscle specific expression, but not pan-neuronal or cholinergic motor-neuron expression, of EAT-6 fully rescued levamisole hypersensitivity.Paper_evidenceWBPaper00031996
Curator_confirmedWBPerson712
Affected_byMoleculeWBMol:00004019Paper_evidenceWBPaper00031996
Curator_confirmedWBPerson712
Phenotype_assayTreatment25 young-adult animals were placed on an agar plate containing 100 M levamisole. Paralysis was examined by probing the animals with a thin glass picker every 10 min. The animals were defined as 'paralyzed' if they showed no body-bending across the midline (see Doi and Iwasaki, 2002).Paper_evidenceWBPaper00031996
Curator_confirmedWBPerson712
GenotypepDK43(pmyo-3::eat-6cDNA) or pDK70(punc-4::eat-6cDNA) or pDK69(punc-119::eat-6cDNA)Paper_evidenceWBPaper00031996
Curator_confirmedWBPerson712
WBPhenotype:0000436Paper_evidenceWBPaper00031996
Curator_confirmedWBPerson712
RemarkAnimals showed substantially decreased intracellular localization of UNC-29::GFP fusion protein with strong accumulation at the NMJ, significantly different to the pattern observed in eat-6(ad997) and wild-type animals. The localization pattern of the ACR-16 receptor was also altered; more GFP puncta were mislocalized to the trunks of the muscle arms compared to the wild-type pattern.The percentage of muscle arms containing extrasynaptic GFP puncta and the number of extrasynpatic puncta/muscle arm are increased compared to wild type.Paper_evidenceWBPaper00031996
Curator_confirmedWBPerson712
EQ_annotationsAnatomy_termWBbt:0006804PATO:0000460Paper_evidenceWBPaper00031996
Curator_confirmedWBPerson712
Phenotype_assayGenotypeIs[Pmyo-3::UNC-29::GFP]Paper_evidenceWBPaper00031996
Curator_confirmedWBPerson712
WBPhenotype:0000547Paper_evidenceWBPaper00001709
Curator_confirmedWBPerson2021
WBPhenotype:0000583Paper_evidenceWBPaper00001709
Curator_confirmedWBPerson2021
RemarkSlightly dumpyPaper_evidenceWBPaper00001709
Curator_confirmedWBPerson2021
WBPhenotype:0000656Paper_evidenceWBPaper00031996
Curator_confirmedWBPerson712
RemarkAnimals are defective in both nAChR localization and cholinergic transmission.Paper_evidenceWBPaper00031996
Curator_confirmedWBPerson712
WBPhenotype:0000964Paper_evidenceWBPaper00027611
Curator_confirmedWBPerson712
Affected_byMoleculeWBMol:00000896Paper_evidenceWBPaper00027611
Curator_confirmedWBPerson712
WBPhenotype:0001202Paper_evidenceWBPaper00031996
Curator_confirmedWBPerson712
RemarkAnimals exhibited paralysis sooner than wild-type animals but not as fast as eat-6(ad601) animals. Sensitivity was restored by EAT-6(D409E), a pump-dead Na+/K+ ATPase.Paper_evidenceWBPaper00031996
Curator_confirmedWBPerson712
Affected_byMoleculeWBMol:00001980Paper_evidenceWBPaper00031996
Curator_confirmedWBPerson712
Phenotype_assayTreatment25 young-adult animals were placed on an agar plate containing 10 mM nicotine. Paralysis was examined by probing the animals with a thin glass picker every 10 min. The animals were defined as 'paralyzed' if they showed no body-bending across the midline (see Doi and Iwasaki, 2002).Paper_evidenceWBPaper00031996
Curator_confirmedWBPerson712
WBPhenotype:0001221Paper_evidenceWBPaper00059550
Curator_confirmedWBPerson2181
WBPhenotype:0001382Paper_evidenceWBPaper00003150
Curator_confirmedWBPerson712
RemarkMutant animals exhibited fewer phosphorylated intermediates than wild-type animals.Paper_evidenceWBPaper00003150
Curator_confirmedWBPerson712
WBPhenotype:0001409Paper_evidenceWBPaper00031996
Curator_confirmedWBPerson712
RemarkACR-16::GFP puncta were mislocalized to the trunks of the muscle arms. The percentage of muscle arms containing extrasynaptic GFP puncta and the number of extrasynaptic puncta/muscle arm were increased compared to wild type.Paper_evidenceWBPaper00031996
Curator_confirmedWBPerson712
EQ_annotationsAnatomy_termWBbt:0006804PATO:0000460Paper_evidenceWBPaper00031996
Curator_confirmedWBPerson712
Phenotype_assayGenotypepMD906 (Pmyo-3::ACR-16::GFP)Paper_evidenceWBPaper00031996
Curator_confirmedWBPerson712
Phenotype_not_observedWBPhenotype:0000655Paper_evidenceWBPaper00031996
Curator_confirmedWBPerson712
RemarkAnimals responded like wild type to GABA agonist muscimol (data not shown)Paper_evidenceWBPaper00031996
Curator_confirmedWBPerson712
Affected_byMoleculeWBMol:00003906Paper_evidenceWBPaper00031996
Curator_confirmedWBPerson712
EQ_annotationsAnatomy_termWBbt:0006804PATO:0000460Paper_evidenceWBPaper00031996
Curator_confirmedWBPerson712
Phenotype_assayTreatmentAnimals were treated with muscimol.Paper_evidenceWBPaper00031996
Curator_confirmedWBPerson712
WBPhenotype:0000717Paper_evidenceWBPaper00003150
Curator_confirmedWBPerson712
RemarkMutant animals did not exhibit a difference in Na, K-ATPase mRNA levels or size.Paper_evidenceWBPaper00003150
Curator_confirmedWBPerson712
WBPhenotype:0001321Paper_evidenceWBPaper00031996
Curator_confirmedWBPerson712
RemarkNo gross differences were observed in the pan-neuronal or GABAergic pattern or expression levels of synaptic vesicle protein SNB-1::GFP compared to wild type.Paper_evidenceWBPaper00031996
Curator_confirmedWBPerson712
EQ_annotationsAnatomy_termWBbt:0005829PATO:0000460Paper_evidenceWBPaper00031996
Curator_confirmedWBPerson712
Phenotype_assayGenotypejsIs1 (Psnb-1::SNB-1::GFP) or juIs1 (Punc-25::SNB-1::GFP)Paper_evidenceWBPaper00031996
Curator_confirmedWBPerson712
WBPhenotype:0001599Paper_evidenceWBPaper00003150
Curator_confirmedWBPerson712
RemarkIsolated Na, K -ATPase from the mutant showed similar kinetics and sensitivity to Oubain as enzyme isolated from WT worms.Paper_evidenceWBPaper00003150
Curator_confirmedWBPerson712
WBPhenotype:0001685Paper_evidenceWBPaper00031996
Curator_confirmedWBPerson712
RemarkExpression of membrane inserted LEV-1 receptors was not significantly different to that observed in wild-type animals. GABA receptor localization and expression was not affected.Paper_evidenceWBPaper00031996
Curator_confirmedWBPerson712
EQ_annotationsAnatomy_termWBbt:0006804PATO:0000460Paper_evidenceWBPaper00031996
Curator_confirmedWBPerson712
Phenotype_assayTreatmentFor assaying LEV-1 protein localization, animals were injected with fluorescently-labeled anti-HA antibodies into the body cavity (Gottschalk et al., 2005; Gottschalk and Schafer, 2006) and were observed 6 hours later.Paper_evidenceWBPaper00031996
Curator_confirmedWBPerson712
GenotypeIs[Pmyo-3::UNC-29::GFP] or LEV::3xHA or oxIs22(Punc-49::UNC-49B::GFP)Paper_evidenceWBPaper00031996
Curator_confirmedWBPerson712
ReferenceWBPaper00014520
WBPaper00015075
WBPaper00027611
WBPaper00031996
WBPaper00001709
WBPaper00003150
WBPaper00050508
WBPaper00059550
MethodSubstitution_allele