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WormBase Tree Display for Variation: WBVar00054757

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Name Class

WBVar00054757EvidencePaper_evidenceWBPaper00003549
NamePublic_namecx36
Other_nameCE26812:p.Gln38Ter
F47G6.1a.1:c.112C>T
HGVSgCHROMOSOME_I:g.1483217C>T
Sequence_detailsSMapS_parentSequenceF47G6
Flanking_sequencesgtaccaccaattgtggcatctgaaatgcaaaattgattgatgaaatgcgtgggtgttcaa
Mapping_targetF47G6
Type_of_mutationSubstitutionct
SeqStatusSequenced
Variation_typeAllele
OriginSpeciesCaenorhabditis elegans
StrainWBStrain00024337
WBStrain00024338
WBStrain00024339
WBStrain00024341
WBStrain00024342
LaboratoryLS
StatusLive
AffectsGeneWBGene00001115
TranscriptF47G6.1a.1VEP_consequencestop_gained
VEP_impactHIGH
HGVScF47G6.1a.1:c.112C>T
HGVSpCE26812:p.Gln38Ter
cDNA_position135
CDS_position112
Protein_position38
Exon_number2/12
Codon_changeCaa/Taa
Amino_acid_changeQ/*
InteractorWBInteraction000500262
WBInteraction000500263
WBInteraction000500279
WBInteraction000500316
WBInteraction000504991
GeneticsInterpolated_map_positionI-14.6222
DescriptionPhenotypeWBPhenotype:0000175Paper_evidenceWBPaper00003549
Curator_confirmedWBPerson2021
RemarkAnimals tend to hypercontract when moving backwardsPaper_evidenceWBPaper00003549
Curator_confirmedWBPerson2021
WBPhenotype:0000642Paper_evidenceWBPaper00003549
Curator_confirmedWBPerson2021
RemarkMutant animals are hyperactivePaper_evidenceWBPaper00003549
Curator_confirmedWBPerson2021
WBPhenotype:0000664Paper_evidenceWBPaper00003549
Curator_confirmedWBPerson2021
RemarkExaggerated bending of the anterior part of the bodyPaper_evidenceWBPaper00003549
Curator_confirmedWBPerson2021
WBPhenotype:0000679Paper_evidenceWBPaper00039987
Curator_confirmedWBPerson712
RemarkA marked reduction in the intensity of SLO-1::GFP puncta in muscle cells across all DAPC(lf) mutants relative to WT was observed. A similar reduction of SLO-1:GFP signal intensity in ventral or dorsal cord neurons of DAPC(lf) mutants was not observed.Paper_evidenceWBPaper00039987
Curator_confirmedWBPerson712
EQ_annotationsAnatomy_termWBbt:0003675PATO:0000460Paper_evidenceWBPaper00039987
Curator_confirmedWBPerson712
Phenotype_assayGenotypecimIs1[slo-1a::GFP,rol-6(d)]Paper_evidenceWBPaper00039987
Curator_confirmedWBPerson712
WBPhenotype:0001317Paper_evidenceWBPaper00039987
Curator_confirmedWBPerson712
RemarkThe ACR-16-mediated current response amplitudes from body-wall muscle cells were similar to wild-type (WT). L-AChR mediated photoevoked responses, isolated by blocking L-AChR-meditated responses with DHbetaE, were also unaltered. As measured by recorded evoked NMJ currents from voltage-clamped body-wall muscles in response to blue-light activated ACh release from cholinergic ventral cord motor neurons expressing channelrhodopsin.Paper_evidenceWBPaper00039987
Curator_confirmedWBPerson712
Affected_byMoleculeWBMol:00003131Paper_evidenceWBPaper00039987
Curator_confirmedWBPerson712
Phenotype_assayGenotypezxIs6[Punc-17::chop-2(H134R)-yfp; lin-15(+)]Paper_evidenceWBPaper00039987
Curator_confirmedWBPerson712
WBPhenotype:0002166Paper_evidenceWBPaper00039987
Curator_confirmedWBPerson712
RemarkThe resting muscle membrane potential was not altered in mutants; however, the number of muscle action potential (AP) bursts following 10 ms photo-stimulation of cholinergic motor neurons, was significantly enhanced across mutants relative to WT.Paper_evidenceWBPaper00039987
Curator_confirmedWBPerson712
EQ_annotationsAnatomy_termWBbt:0003675PATO:0000460Paper_evidenceWBPaper00039987
Curator_confirmedWBPerson712
Phenotype_assayGenotypecimIs1[slo-1a::GFP,rol-6(d)]Paper_evidenceWBPaper00039987
Curator_confirmedWBPerson712
Phenotype_not_observedWBPhenotype:0000016Paper_evidenceWBPaper00003549
Curator_confirmedWBPerson2021
Remarkcx36 mutants are not hypersensitive to aldicarbPaper_evidenceWBPaper00003549
Curator_confirmedWBPerson2021
Affected_byMoleculeWBMol:00003650Paper_evidenceWBPaper00003549
Curator_confirmedWBPerson2021
WBPhenotype:0001316Paper_evidenceWBPaper00039987
Curator_confirmedWBPerson712
RemarkMutants did not display any significant variance from controls in the half-time decay of photoevoked currents.Paper_evidenceWBPaper00039987
Curator_confirmedWBPerson712
Affected_byMoleculeWBMol:00003131Paper_evidenceWBPaper00039987
Curator_confirmedWBPerson712
Phenotype_assayGenotypezxIs6[Punc-17::chop-2(H134R)-yfp; lin-15(+)]Paper_evidenceWBPaper00039987
Curator_confirmedWBPerson712
WBPhenotype:0001400Paper_evidenceWBPaper00039987
Curator_confirmedWBPerson712
RemarkWestern blot analysis reveals no difference in total SLO-1::GFP protein between WT and DAPC(lf) mutants.Paper_evidenceWBPaper00039987
Curator_confirmedWBPerson712
Phenotype_assayGenotypecimIs1[slo-1a::GFP,rol-6(d)]Paper_evidenceWBPaper00039987
Curator_confirmedWBPerson712
WBPhenotype:0001403Paper_evidenceWBPaper00039987
Curator_confirmedWBPerson712
RemarkUNC-38 and ACR-16 were clustered along the nerve cord, similar to WT.Paper_evidenceWBPaper00039987
Curator_confirmedWBPerson712
Phenotype_assayGenotypeacr-16(ok789); jaSi4[Pmyo-3:acr-16::gfp]Paper_evidenceWBPaper00039987
Curator_confirmedWBPerson712
ReferenceWBPaper00039987
WBPaper00025979
WBPaper00003549
WBPaper00018664
MethodSubstitution_allele