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WormBase Tree Display for Variation: WBVar00248936

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Name Class

WBVar00248936EvidencePaper_evidenceWBPaper00004721
NamePublic_namesy192
Other_nameCE05311:p.Thr330Ile
C26C6.2.1:c.989C>T
HGVSgCHROMOSOME_I:g.7525779C>T
Sequence_detailsSMapS_parentSequenceC26C6
Flanking_sequencesattgccacatgacatgtgccacagacacaataacattcaatttgtgtttgacgctgtcac
Mapping_targetC26C6
Type_of_mutationSubstitutionct
SeqStatusSequenced
Variation_typeAllele
OriginSpeciesCaenorhabditis elegans
StrainWBStrain00030824
LaboratoryPS
StatusLive
AffectsGeneWBGene00001648
TranscriptC26C6.2.1 (12)
GeneticsInterpolated_map_positionI2.10036
Mapping_dataIn_multi_point3230
3231
DescriptionPhenotypeWBPhenotype:0000004Person_evidenceWBPerson261
Curator_confirmedWBPerson712
WBPhenotype:0000546Paper_evidenceWBPaper00004721
Curator_confirmedWBPerson712
Remark92% eggs laid by sy192/+ are early.Paper_evidenceWBPaper00004721
Curator_confirmedWBPerson712
PenetranceHigh96% eggs laid are early (e.g. 8 or fewer cells.) (n=56)Paper_evidenceWBPaper00004721
Curator_confirmedWBPerson712
DominantPaper_evidenceWBPaper00004721
Curator_confirmedWBPerson712
Variation_effectDominant_negative_gain_of_functionPaper_evidenceWBPaper00004721
Curator_confirmedWBPerson712
WBPhenotype:0000642Paper_evidenceWBPaper00004721
Person_evidenceWBPerson261
Curator_confirmedWBPerson712
RemarkHomozygous animals are hyperactive as assayed by large increase in the number of body bends/min, ~40.1 (n=27) vs. N2 ~24.9 (n=26). Heterozygotes also display a significant increase in body bends, ~44.4 (n=27).Paper_evidenceWBPaper00004721
Curator_confirmedWBPerson712
DominantPaper_evidenceWBPaper00004721
Curator_confirmedWBPerson712
Variation_effectDominant_negative_gain_of_functionPaper_evidenceWBPaper00004721
Curator_confirmedWBPerson712
WBPhenotype:0000680Paper_evidenceWBPaper00004721
Curator_confirmedWBPerson712
RemarkAnimals were not blocked in halothane induced aldicarb resistance, even at very high concentrations of the volatile anesthetic unlike in WT animals.Paper_evidenceWBPaper00004721
Curator_confirmedWBPerson712
Affected_byMoleculeWBMol:00001705Paper_evidenceWBPaper00004721
Curator_confirmedWBPerson712
WBMol:00003650Paper_evidenceWBPaper00004721
Curator_confirmedWBPerson712
WBPhenotype:0000845Paper_evidenceWBPaper00004721
Curator_confirmedWBPerson712
RemarkData not shown.Paper_evidenceWBPaper00004721
Curator_confirmedWBPerson712
Affected_byMoleculeWBMol:00004019Paper_evidenceWBPaper00004721
Curator_confirmedWBPerson712
WBPhenotype:0001414Person_evidenceWBPerson261
Curator_confirmedWBPerson712
WBPhenotype:0001506Paper_evidenceWBPaper00004721
Curator_confirmedWBPerson712
RemarkAnimals exhibit an significant increase in spontaneous reversals (~5 backward movements initiated/minute over 2 minutes) (n=27). sy192/+ animals do not exhibit a significant increase in reversals.Paper_evidenceWBPaper00004721
Curator_confirmedWBPerson712
RecessivePaper_evidenceWBPaper00004721
Curator_confirmedWBPerson712
WBPhenotype:0001618Paper_evidenceWBPaper00004721
Curator_confirmedWBPerson712
RemarkAnimals exhibit an EC50 of ~1.07 for halothane, whereas N2 has an EC50 of ~0.42 vol%,as determined by a concentration-response curve based on animal dispersal indexes.Paper_evidenceWBPaper00004721
Curator_confirmedWBPerson712
Affected_byMoleculeWBMol:00001705Paper_evidenceWBPaper00004721
Curator_confirmedWBPerson712
Phenotype_assayTreatmentDispersal assay followed the protocol reported in Crowder et al. 1996 and van Swinderen et al. 1997. Assay was also done with modifications to the protocol that includes decreasing the time for dispersal and increasing pre-treatment exposure time.Paper_evidenceWBPaper00004721
Curator_confirmedWBPerson712
WBPhenotype:0001619Paper_evidenceWBPaper00004721
Curator_confirmedWBPerson712
RemarkAnimals exhibit an EC50 of ~1.77 for isoflurane, whereas N2 has an EC50 of ~0.75 vol% as determined by a concentration-response curve based on animal dispersal indexes.Paper_evidenceWBPaper00004721
Curator_confirmedWBPerson712
Affected_byMoleculeWBMol:00004563Paper_evidenceWBPaper00004721
Curator_confirmedWBPerson712
Phenotype_assayTreatmentDispersal assay followed the protocol reported in Crowder et al. 1996 and van Swinderen et al. 1997. Assay was also done with modifications to the protocol that includes decreasing the time for dispersal and increasing pre-treatment exposure time.Paper_evidenceWBPaper00004721
Curator_confirmedWBPerson712
Phenotype_not_observedWBPhenotype:0000641Paper_evidenceWBPaper00004721
Curator_confirmedWBPerson712
RemarkDispersal index in the absence of anesthetic ~0.98 was not significantly different to N2 ~0.90.Paper_evidenceWBPaper00004721
Curator_confirmedWBPerson712
Phenotype_assayTreatmentDispersal assay as reported in Crowder et al.1996; van Swinderen et al. 1997.Paper_evidenceWBPaper00004721
Curator_confirmedWBPerson712
WBPhenotype:0001765Paper_evidenceWBPaper00031936
Curator_confirmedWBPerson2021
RemarkAnimals with mutations in individual G protein subunits respond normally to CO2Paper_evidenceWBPaper00031936
Curator_confirmedWBPerson2021
EQ_annotationsLife_stageWBls:0000057PATO:0000460Paper_evidenceWBPaper00031936
Curator_confirmedWBPerson2021
Phenotype_assayTreatment10% CO2Paper_evidenceWBPaper00031936
Curator_confirmedWBPerson2021
ReferenceWBPaper00022779
WBPaper00031936
WBPaper00004721
WBPaper00015453
WBPaper00022171
Remarksy192 (T 330 -> I) [030411 ck1]
MethodSubstitution_allele