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WormBase Tree Display for Variation: WBVar00143874

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Name Class

WBVar00143874EvidencePaper_evidenceWBPaper00037788
NamePublic_namee1265
Other_nameC52E12.2a.1:c.4489G>A
C52E12.2b.1:c.4621G>A
CE48050:p.Asp1497Asn
C52E12.2a.2:c.4489G>A
CE47855:p.Asp1541Asn
HGVSgCHROMOSOME_II:g.7009630G>A
Sequence_detailsSMapS_parentSequenceC52E12
Flanking_sequencesccatatattcttttattccgtgatgatcgaatttggttattcgaggaatcattaatctgg
Mapping_targetC52E12
Type_of_mutationSubstitutiongaPaper_evidenceWBPaper00037788
SeqStatusSequenced
Variation_typeAllele
OriginSpeciesCaenorhabditis elegans
StrainWBStrain00004283
WBStrain00007435
WBStrain00023451
WBStrain00027316
WBStrain00029041
WBStrain00040211
WBStrain00047182
WBStrain00050611
WBStrain00057260
LaboratoryCB
MTS
StatusLive
AffectsGeneWBGene00006831
TranscriptC52E12.2a.2 (12)
C52E12.2b.1 (12)
C52E12.2a.1 (12)
Interactor (44)
GeneticsInterpolated_map_positionII0.260775
Mapping_dataIn_2_point948
3709
In_multi_point437
1360
1473
1474
1718
2073
2310
2311
In_pos_neg_data544
548
554
597
619
4514
DescriptionPhenotypeWBPhenotype:0000017Person_evidenceWBPerson261
Curator_confirmedWBPerson712
RemarkRicPerson_evidenceWBPerson261
Curator_confirmedWBPerson712
WBPhenotype:0000039Paper_evidenceWBPaper00040570
Curator_confirmedWBPerson8126
Remark(Fig.2) unc-104(e1265) animals exhibit no lifespan extension upon reserpine treatment, unlike wild type animalsPaper_evidenceWBPaper00040570
Curator_confirmedWBPerson8126
Affected_byMoleculeWBMol:00002955Paper_evidenceWBPaper00040570
Curator_confirmedWBPerson8126
WBPhenotype:0000164Paper_evidenceWBPaper00043908
Curator_confirmedWBPerson2987
WBPhenotype:0000324Paper_evidenceWBPaper00043908
Curator_confirmedWBPerson2987
WBPhenotype:0000384Paper_evidenceWBPaper00040041
Curator_confirmedWBPerson712
RemarkAnimals exhibit AVM ventral axon guidance defects. These defects can be suppressed by exogenous acetylcholine. DD and VD neurons migrate normally in these mutants and are unaffected by exogenous acetylcholine.Paper_evidenceWBPaper00040041
Curator_confirmedWBPerson712
Affected_byMoleculeWBMol:00004765Paper_evidenceWBPaper00040041
Curator_confirmedWBPerson712
EQ_annotationsAnatomy_termWBbt:0003832PATO:0000460Paper_evidenceWBPaper00040041
Curator_confirmedWBPerson712
WBPhenotype:0000436Paper_evidenceWBPaper00028886
WBPaper00040857
Curator_confirmedWBPerson48
WBPerson712
RemarkLocalization of the synaptic protein SNB-1 accumulates in the cell body, based on expression analysis with SNB-1::VENUS.Paper_evidenceWBPaper00028886
Curator_confirmedWBPerson48
The fluorescence of SNB-1::VENUS was observed exclusively in the cell body of RIA in most of unc-104(e1265) mutant animals.Paper_evidenceWBPaper00040857
Curator_confirmedWBPerson712
WBPhenotype:0000517Paper_evidenceWBPaper00001424
Curator_confirmedWBPerson233
Remarkseveral unc-104 alleles showed deficits in locomotion, feeding rate and defecation that varied in proportion to changes in synaptic vesicle transport within axonsPaper_evidenceWBPaper00001424
Curator_confirmedWBPerson233
WBPhenotype:0000565Person_evidenceWBPerson261
Curator_confirmedWBPerson712
Remarksevere coilerPerson_evidenceWBPerson261
Curator_confirmedWBPerson712
Ease_of_scoringES3_Easy_to_scorePerson_evidenceWBPerson261
Curator_confirmedWBPerson712
WBPhenotype:0000604Person_evidenceWBPerson261
Curator_confirmedWBPerson712
Remarkdefects in neuroanatomyPerson_evidenceWBPerson261
Curator_confirmedWBPerson712
WBPhenotype:0000633Paper_evidenceWBPaper00045955
Curator_confirmedWBPerson557
RemarkBranch defects scored in PLM neuron.Paper_evidenceWBPaper00045955
Curator_confirmedWBPerson557
PenetranceIncompletePaper_evidenceWBPaper00045955
Curator_confirmedWBPerson557
WBPhenotype:0000672Paper_evidenceWBPaper00001424
Curator_confirmedWBPerson233
RemarkFigures 3 and 4 show changes in localization of synaptic vesicles in unc-104 alleles, with most vesicles concentrated in the neuron soma, while failing to reach chemical synaptic locales in the nerve ringPaper_evidenceWBPaper00001424
Curator_confirmedWBPerson233
WBPhenotype:0000679Paper_evidenceWBPaper00030754
WBPaper00002911
WBPaper00039901
WBPaper00032443
Curator_confirmedWBPerson712
WBPerson2987
RemarkLocalization of the pan-neuronal expressed preproANF::GFP is mislocalized to cell bodies in unc-104 mutantsPaper_evidenceWBPaper00030754
Curator_confirmedWBPerson712
GFP-tagged UNC-47 is localized in cell bodies rather than transported to neuromuscular junctions.Paper_evidenceWBPaper00002911
Curator_confirmedWBPerson712
The intensities of TIR-1::GFP puncta were significantly different between wild-type and unc-104(e1265) mutant animals. TIR-1::GFP puncta in the AWC axons were bright in wild-type animals but were faint in unc-104 mutants. | UNC-43::GFP and NSY-1::GFP showed significantly reduced levels of localization in the AWC axons. The expression level of UNC-43::GFP in the AWC cell body was similar in wild type and unc-104(e1265) mutants, whereas NSY-1::GFP expression was reduced in the AWC cell body in unc-104(e1265) mutants.Paper_evidenceWBPaper00039901
Curator_confirmedWBPerson712
" In contrast to transgenic N2 animals , where CeNIPA : : EGFP was distributed in the cell soma and axons ( Fig . 7O ) , CeNIPA : : EGFP ; unc-104 ( e1265 ) / animals displayed EGFP labeling only in the somata of neurons ( Fig . 7 N ) ."Paper_evidenceWBPaper00032443
Curator_confirmedWBPerson2987
Variation_effectProbable_null_via_phenotypePaper_evidenceWBPaper00039901
Curator_confirmedWBPerson712
EQ_annotationsAnatomy_termWBbt:0005672PATO:0000460Paper_evidenceWBPaper00039901
Curator_confirmedWBPerson712
Phenotype_assayGenotypetgIs5[Paex-3:ANF::GFP] unc-104(e1265)Paper_evidenceWBPaper00030754
Curator_confirmedWBPerson712
[str-2p::GFP]Paper_evidenceWBPaper00039901
Curator_confirmedWBPerson712
CeNIPA : : EGFPPaper_evidenceWBPaper00032443
Curator_confirmedWBPerson2987
WBPhenotype:0000853Paper_evidenceWBPaper00038442
Curator_confirmedWBPerson712
RemarkThe speed of PTL-1 in unc-104 mutants is statistically significant lower compared to PTL-1 alone.Paper_evidenceWBPaper00038442
Curator_confirmedWBPerson712
WBPhenotype:0000962Paper_evidenceWBPaper00037623
Curator_confirmedWBPerson712
RemarkFluorescence levels of APL-1::GFP are dramatically reduced compared to control animals.Paper_evidenceWBPaper00037623
Curator_confirmedWBPerson712
WBPhenotype:0001400Paper_evidenceWBPaper00037623
Curator_confirmedWBPerson712
RemarkLevels of APL-1 protein are reduced compared to control animals even though no difference was observed in message levels of apl-1 between control and mutant animals when assayed with qRT-PCR.Paper_evidenceWBPaper00037623
Curator_confirmedWBPerson712
WBPhenotype:0001479Person_evidenceWBPerson261
Curator_confirmedWBPerson712
Remarkpoor response to dauer pheromonePerson_evidenceWBPerson261
Curator_confirmedWBPerson712
WBPhenotype:0001639Paper_evidenceWBPaper00043908
Curator_confirmedWBPerson2987
WBPhenotype:0001716Paper_evidenceWBPaper00043908
Curator_confirmedWBPerson2987
WBPhenotype:0001752Person_evidenceWBPerson261
Curator_confirmedWBPerson712
Remarkabnormal transport of synaptic vesiclesPerson_evidenceWBPerson261
Curator_confirmedWBPerson712
WBPhenotype:0001922Paper_evidenceWBPaper00039901
Curator_confirmedWBPerson712
RemarkIn unc-104(e1265) mutants, the ratio of anterograde movement was significantly reduced to 33% and the ratio of retrograde movement was significantly increased to 67%, measured by time-lapse imaging of TIR-1::GFP puncta. However, the average speed of TIR-1 movement in either direction was not significantly altered in unc-104(e1265) mutants (data not shown).Paper_evidenceWBPaper00039901
Curator_confirmedWBPerson712
Variation_effectProbable_null_via_phenotypePaper_evidenceWBPaper00039901
Curator_confirmedWBPerson712
EQ_annotationsAnatomy_termWBbt:0005672PATO:0000460Paper_evidenceWBPaper00039901
Curator_confirmedWBPerson712
Phenotype_assayGenotype[str-2p::GFP]Paper_evidenceWBPaper00039901
Curator_confirmedWBPerson712
WBPhenotype:0002284Paper_evidenceWBPaper00043908
Curator_confirmedWBPerson2987
WBPhenotype:0002288Paper_evidenceWBPaper00043908
Curator_confirmedWBPerson2987
WBPhenotype:0002293Paper_evidenceWBPaper00043908
Curator_confirmedWBPerson2987
WBPhenotype:0002295Paper_evidenceWBPaper00043908
Curator_confirmedWBPerson2987
WBPhenotype:0002300Paper_evidenceWBPaper00043908
Curator_confirmedWBPerson2987
WBPhenotype:0002301Paper_evidenceWBPaper00043908
Curator_confirmedWBPerson2987
WBPhenotype:0002308Paper_evidenceWBPaper00043908
Curator_confirmedWBPerson2987
WBPhenotype:0002312Paper_evidenceWBPaper00043908
Curator_confirmedWBPerson2987
WBPhenotype:0002323Paper_evidenceWBPaper00043908
Curator_confirmedWBPerson2987
WBPhenotype:0002336Paper_evidenceWBPaper00043908
Curator_confirmedWBPerson2987
WBPhenotype:0002344Paper_evidenceWBPaper00043908
Curator_confirmedWBPerson2987
WBPhenotype:0002347Paper_evidenceWBPaper00043908
Curator_confirmedWBPerson2987
WBPhenotype:0004022Paper_evidenceWBPaper00043908
Curator_confirmedWBPerson2987
WBPhenotype:0004023Paper_evidenceWBPaper00043908
Curator_confirmedWBPerson2987
Phenotype_not_observedWBPhenotype:0000679Paper_evidenceWBPaper00028448
Curator_confirmedWBPerson712
RemarkPKD-2::GFP localization is not different from wild type.Paper_evidenceWBPaper00028448
Curator_confirmedWBPerson712
WBPhenotype:0000847Paper_evidenceWBPaper00032993
Curator_confirmedWBPerson2021
RemarkRSY-1DSR localization to presynaptic sites was not affected in unc-104 mutants, suggesting that RSY-1 is not associated with synaptic vesicles.Paper_evidenceWBPaper00032993
Curator_confirmedWBPerson2021
WBPhenotype:0000962Paper_evidenceWBPaper00039901
Curator_confirmedWBPerson712
RemarkThe expression level of odr-3p::GFP in the AWC cell body is not significantly different between wild-type animals and unc-104(e1265) mutants.Paper_evidenceWBPaper00039901
Curator_confirmedWBPerson712
Variation_effectProbable_null_via_phenotypePaper_evidenceWBPaper00039901
Curator_confirmedWBPerson712
EQ_annotationsAnatomy_termWBbt:0005672PATO:0000460Paper_evidenceWBPaper00039901
Curator_confirmedWBPerson712
Phenotype_assayGenotype[str-2p::GFP]Paper_evidenceWBPaper00039901
Curator_confirmedWBPerson712
WBPhenotype:0001426Paper_evidenceWBPaper00004883
Curator_confirmedWBPerson712
Variation_effectHypomorph_reduction_of_functionPaper_evidenceWBPaper00004883
Curator_confirmedWBPerson712
Phenotype_assayGenotypearIs37Paper_evidenceWBPaper00004883
Curator_confirmedWBPerson712
WBPhenotype:0001645Paper_evidenceWBPaper00040284
Curator_confirmedWBPerson2987
RemarkTable S2Paper_evidenceWBPaper00040284
Curator_confirmedWBPerson2987
WBPhenotype:0001661Paper_evidenceWBPaper00003760
WBPaper00039901
Curator_confirmedWBPerson2021
WBPerson712
RemarkAsymmetric expression in AWC was normalPaper_evidenceWBPaper00003760
Curator_confirmedWBPerson2021
unc-104(e1265) mutants did not show a 2AWC-ON phenotype.Paper_evidenceWBPaper00039901
Curator_confirmedWBPerson712
Variation_effectProbable_null_via_phenotypePaper_evidenceWBPaper00039901
Curator_confirmedWBPerson712
EQ_annotationsAnatomy_termWBbt:0005672PATO:0000460Paper_evidenceWBPaper00039901
Curator_confirmedWBPerson712
Phenotype_assayGenotype[str-2p::GFP]Paper_evidenceWBPaper00039901
Curator_confirmedWBPerson712
Reference (34)
RemarkVariation stub/paper connection generated from the May 2021 NN VFP dataset.
Created by WBPerson51134 from the NN_VFP_triage_pipeline
MethodSubstitution_allele