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WormBase Tree Display for Variation: WBVar00143964

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Name Class

WBVar00143964EvidencePaper_evidenceWBPaper00027360
NamePublic_namee1387
Other_nameCE40504:p.Gln892Ter
F23B2.4.1:c.2674C>T
HGVSgCHROMOSOME_IV:g.9138243G>A
Sequence_detailsSMapS_parentSequenceF23B2
Flanking_sequencescttctgagtcagcaatatttggatcgaagcaaactgaagagaacttgacacttctgaata
Mapping_targetF23B2
Type_of_mutationSubstitutionct
SeqStatusSequenced
Variation_typeAllele
OriginSpeciesCaenorhabditis elegans
StrainWBStrain00004318
WBStrain00006213
LaboratoryCB
StatusLive
AffectsGeneWBGene00000906
TranscriptF23B2.4.1VEP_consequencestop_gained
VEP_impactHIGH
HGVScF23B2.4.1:c.2674C>T
HGVSpCE40504:p.Gln892Ter
cDNA_position2689
CDS_position2674
Protein_position892
Exon_number16/21
Codon_changeCaa/Taa
Amino_acid_changeQ/*
GeneticsInterpolated_map_positionIV4.05367
Mapping_dataIn_2_point429
430
In_multi_point3239
DescriptionPhenotypeWBPhenotype:0000013Paper_evidenceWBPaper00000316
WBPaper00000504
WBPaper00000503
Person_evidenceWBPerson261
Curator_confirmedWBPerson712
RemarkWill not form Dauers on starved plates but will form Dauers in liquid culture.Paper_evidenceWBPaper00000503
Curator_confirmedWBPerson712
defective dauer formationPerson_evidenceWBPerson261
Curator_confirmedWBPerson712
Ease_of_scoringES1_Very_hard_to_scorePerson_evidenceWBPerson261
Curator_confirmedWBPerson712
WBPhenotype:0000150Paper_evidenceWBPaper00000503
Curator_confirmedWBPerson712
WBPhenotype:0000247Paper_evidenceWBPaper00000503
Curator_confirmedWBPerson712
Remark0/30 L2 larva, 1/30 adults move to within 1 cm of the center of a 50mM Na+ gradient in an orientation assay. Whereas 25/28 L2 N2 larva and 28/30 N2 adults move to within 1 cm of the center in the same assay.Paper_evidenceWBPaper00000503
Curator_confirmedWBPerson712
EQ_annotationsLife_stageWBls:0000027PATO:0000460Paper_evidenceWBPaper00000503
Curator_confirmedWBPerson712
WBls:0000041PATO:0000460Paper_evidenceWBPaper00000503
Curator_confirmedWBPerson712
WBPhenotype:0000251Paper_evidenceWBPaper00000552
Person_evidenceWBPerson261
Curator_confirmedWBPerson712
RemarkLacks detectable levels of octopamine.Paper_evidenceWBPaper00000552
Curator_confirmedWBPerson712
octopamine deficientPerson_evidenceWBPerson261
Curator_confirmedWBPerson712
Affected_byMoleculeWBMol:00005315Person_evidenceWBPerson261
Curator_confirmedWBPerson712
WBPhenotype:0000254Paper_evidenceWBPaper00000503
Curator_confirmedWBPerson712
EQ_annotationsLife_stageWBls:0000027PATO:0000460Paper_evidenceWBPaper00000503
Curator_confirmedWBPerson712
WBPhenotype:0000256Paper_evidenceWBPaper00000316
WBPaper00000503
Curator_confirmedWBPerson712
RemarkAmphidial neurons are packed with electron dense material where cilia normally reside. Processes are enlarged, irregular and fail to reach their normal length. Other head sensilla are normal.Paper_evidenceWBPaper00000316
Curator_confirmedWBPerson712
Amphid neurons are foreshortened, misshapen, occasionally enlarged, often with irregular edges and are abnormal in arrangement, the channel itself is enlarged.Paper_evidenceWBPaper00000503
Curator_confirmedWBPerson712
EQ_annotationsLife_stageWBls:0000027PATO:0000460Paper_evidenceWBPaper00000503
Curator_confirmedWBPerson712
WBls:0000041PATO:0000460Paper_evidenceWBPaper00000503
Curator_confirmedWBPerson712
WBPhenotype:0000505Paper_evidenceWBPaper00000932
Curator_confirmedWBPerson712
RemarkOccasional FITC staining of ray sensilla.Paper_evidenceWBPaper00000932
Curator_confirmedWBPerson712
WBPhenotype:0000604Person_evidenceWBPerson261
Curator_confirmedWBPerson712
Remarkabnormal sensory anatomy especially amphidial neurons and sheath cells, cephalic neuronsPerson_evidenceWBPerson261
Curator_confirmedWBPerson712
EQ_annotationsAnatomy_termWBbt:0005394PATO:0000460Person_evidenceWBPerson261
Curator_confirmedWBPerson712
WBbt:0006754PATO:0000460Person_evidenceWBPerson261
Curator_confirmedWBPerson712
WBbt:0006920PATO:0000460Person_evidenceWBPerson261
Curator_confirmedWBPerson712
WBPhenotype:0000615Paper_evidenceWBPaper00000932
Curator_confirmedWBPerson712
RemarkAmphid and mechanosensory cilia are irregularly shaped and abnormal.Paper_evidenceWBPaper00000932
Curator_confirmedWBPerson712
WBPhenotype:0000662Paper_evidenceWBPaper00000503
Curator_confirmedWBPerson712
RemarkMutants do not disperse evenly over the bacterial lawn.Paper_evidenceWBPaper00000503
Curator_confirmedWBPerson712
WBPhenotype:0000663Paper_evidenceWBPaper00000503
Person_evidenceWBPerson261
Curator_confirmedWBPerson712
Remarkabnormal osmotic avoidancePerson_evidenceWBPerson261
Curator_confirmedWBPerson712
WBPhenotype:0000843Paper_evidenceWBPaper00000503
WBPaper00000932
Curator_confirmedWBPerson712
RemarkMating efficiency 0; no detected matings.Paper_evidenceWBPaper00000932
Curator_confirmedWBPerson712
EQ_annotationsLife_stageWBls:0000056PATO:0000460Paper_evidenceWBPaper00000932
Curator_confirmedWBPerson712
Phenotype_assayGenotypehim-5(e1490)Paper_evidenceWBPaper00000932
Curator_confirmedWBPerson712
WBPhenotype:0000863Person_evidenceWBPerson261
Curator_confirmedWBPerson712
Remarkmales impotentPerson_evidenceWBPerson261
Curator_confirmedWBPerson712
WBPhenotype:0001040Paper_evidenceWBPaper00000316
Curator_confirmedWBPerson712
WBPhenotype:0001414Paper_evidenceWBPaper00000316
Curator_confirmedWBPerson712
RemarkMales do no mate successfully.Paper_evidenceWBPaper00000316
Curator_confirmedWBPerson712
WBPhenotype:0001434Person_evidenceWBPerson261
Curator_confirmedWBPerson712
Remarkabnormal chemotaxisPerson_evidenceWBPerson261
Curator_confirmedWBPerson712
WBPhenotype:0001438Paper_evidenceWBPaper00001786
Curator_confirmedWBPerson2021
RemarkDefective in chemotaxis to volatile odorants including benzaldehyde, 2-butanone and isoamyl alcohol (Data not shown).Paper_evidenceWBPaper00001786
Curator_confirmedWBPerson2021
EQ_annotationsLife_stageWBls:0000041PATO:0000460Paper_evidenceWBPaper00001786
Curator_confirmedWBPerson2021
WBPhenotype:0001530Paper_evidenceWBPaper00000503
WBPaper00000932
Curator_confirmedWBPerson712
RemarkBasal bodies are occasionally absent, neurons are sometimes enlarged and contain vesicular or granular material and occasional dense core assemblies.Paper_evidenceWBPaper00000503
Curator_confirmedWBPerson712
Occasional FITC staining of CEP.Paper_evidenceWBPaper00000932
Curator_confirmedWBPerson712
WBPhenotype:0001535Paper_evidenceWBPaper00000932
Curator_confirmedWBPerson712
RemarkOccasional FITC staining of ADE and PDE.Paper_evidenceWBPaper00000932
Curator_confirmedWBPerson712
WBPhenotype:0001655Paper_evidenceWBPaper00026674
Curator_confirmedWBPerson2987
RemarkTable 3Paper_evidenceWBPaper00026674
Curator_confirmedWBPerson2987
Affected_byMoleculeWBMol:00003022Paper_evidenceWBPaper00026674
Curator_confirmedWBPerson2987
WBPhenotype:0002053Paper_evidenceWBPaper00055368
Curator_confirmedWBPerson466
Remarksurvive 10nM ivermectinPaper_evidenceWBPaper00055368
Curator_confirmedWBPerson466
Affected_byMoleculeWBMol:00002786Paper_evidenceWBPaper00055368
Curator_confirmedWBPerson466
WBPhenotype:0002535Paper_evidenceWBPaper00002087
WBPaper00000932
Person_evidenceWBPerson261
Curator_confirmedWBPerson48
WBPerson712
RemarkDefects in dye filling.Paper_evidenceWBPaper00002087
Curator_confirmedWBPerson48
Weak frequent FITC staining of ADF and ADL but not other amphids or phasmids.Paper_evidenceWBPaper00000932
Curator_confirmedWBPerson712
Dyf (FITC uptake defective)Person_evidenceWBPerson261
Curator_confirmedWBPerson712
RecessivePaper_evidenceWBPaper00002087
Curator_confirmedWBPerson48
Phenotype_not_observedWBPhenotype:0000315Paper_evidenceWBPaper00000932
Curator_confirmedWBPerson712
WBPhenotype:0000398Paper_evidenceWBPaper00000503
Curator_confirmedWBPerson712
WBPhenotype:0000478Paper_evidenceWBPaper00000932
Curator_confirmedWBPerson712
WBPhenotype:0001780Paper_evidenceWBPaper00029060
Curator_confirmedWBPerson2021
RemarkMutants show normal butanone enhancementPaper_evidenceWBPaper00029060
Curator_confirmedWBPerson2021
EQ_annotationsLife_stageWBls:0000057PATO:0000460Paper_evidenceWBPaper00029060
Curator_confirmedWBPerson2021
Phenotype_assayTreatmentPreexposure to 1:10 dilution of butanone and food. Animals were then subjected to odorant chemotaxis assays and/or selection assaysPaper_evidenceWBPaper00029060
Curator_confirmedWBPerson2021
Reference (16)
MethodSubstitution_allele