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WormBase Tree Display for Variation: WBVar00143752

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Name Class

WBVar00143752NamePublic_namee1111
Other_nameW01C8.6.2:c.644G>A
CE35792:p.Trp215Ter
W01C8.6.1:c.644G>A
HGVSgCHROMOSOME_X:g.5709743C>T
Sequence_detailsSMapS_parentSequenceE03E2
Flanking_sequencesTTGCATTTGGAGATTCTTATTTCACACTATGTTGGCTAGAGCACTACAAGGCGTGGGGTC
Mapping_targetE03E2
Type_of_mutationSubstitutiongaPaper_evidenceWBPaper00000365
SeqStatusSequenced
Variation_typeAllele
OriginSpeciesCaenorhabditis elegans
StrainWBStrain00004245
WBStrain00033387
LaboratoryCB
StatusLive
AffectsGeneWBGene00000295
TranscriptW01C8.6.1VEP_consequencestop_gained
VEP_impactHIGH
HGVScW01C8.6.1:c.644G>A
HGVSpCE35792:p.Trp215Ter
cDNA_position684
CDS_position644
Protein_position215
Exon_number6/13
Codon_changetGg/tAg
Amino_acid_changeW/*
W01C8.6.2VEP_consequencestop_gained
VEP_impactHIGH
HGVScW01C8.6.2:c.644G>A
HGVSpCE35792:p.Trp215Ter
cDNA_position743
CDS_position644
Protein_position215
Exon_number7/14
Codon_changetGg/tAg
Amino_acid_changeW/*
InteractorWBInteraction000504903
Genetics (2)
DescriptionPhenotypeWBPhenotype:0000221Person_evidenceWBPerson261
Curator_confirmedWBPerson712
Remarkdopamine and serotonin absent from neuron processes present in cell bodies; serotonin immunoreactivity restored by exogenous serotonin or 5-hydroxytryptophanPerson_evidenceWBPerson261
Curator_confirmedWBPerson712
Affected_byMoleculeWBMol:00004583Person_evidenceWBPerson261
Curator_confirmedWBPerson712
WBMol:00004929Person_evidenceWBPerson261
Curator_confirmedWBPerson712
Ease_of_scoringES1_Very_hard_to_scorePerson_evidenceWBPerson261
Curator_confirmedWBPerson712
WBPhenotype:0000227Paper_evidenceWBPaper00001861
Person_evidenceWBPerson261
Curator_confirmedWBPerson712
Remarkcat-1 males show variable reduction in turning ability, more than 50% good turns. Some males were perfect e.g. made good turns 100% of the time.Paper_evidenceWBPaper00001861
Curator_confirmedWBPerson712
poor male turning behaviorPerson_evidenceWBPerson261
Curator_confirmedWBPerson712
PenetranceIncompletePaper_evidenceWBPaper00001861
Curator_confirmedWBPerson712
EQ_annotationsLife_stageWBls:0000056PATO:0000460Paper_evidenceWBPaper00001861
Curator_confirmedWBPerson712
WBPhenotype:0000234Paper_evidenceWBPaper00000365
Curator_confirmedWBPerson712
RemarkDopamine levels are reduced in these mutants.Paper_evidenceWBPaper00000365
Curator_confirmedWBPerson712
WBPhenotype:0000237Person_evidenceWBPerson261
Curator_confirmedWBPerson712
Remarkenhanced foraging behavior, suppressed by serotonin agonistsPerson_evidenceWBPerson261
Curator_confirmedWBPerson712
WBPhenotype:0000424Paper_evidenceWBPaper00001861
Curator_confirmedWBPerson712
RemarkSerotonin-IR (immunoreactivity) is variable, ranging from WT levels to a complete lack of staining, which can be restored by treatment with serotonin or its precursor, 5-HTP.Paper_evidenceWBPaper00001861
Curator_confirmedWBPerson712
WBPhenotype:0000425Paper_evidenceWBPaper00001105
Curator_confirmedWBPerson2021
RemarkSerotonin levels are reduced in HSNs and 8 other serotonergic head neurons (determined immunocytochemically)Paper_evidenceWBPaper00001105
Curator_confirmedWBPerson2021
EQ_annotationsAnatomy_termWBbt:0006837PATO:0000460Paper_evidenceWBPaper00001105
Curator_confirmedWBPerson2021
WBbt:0006830PATO:0000460Paper_evidenceWBPaper00001105
Curator_confirmedWBPerson2021
Life_stageWBls:0000057PATO:0000460Paper_evidenceWBPaper00001105
Curator_confirmedWBPerson2021
WBPhenotype:0000648Paper_evidenceWBPaper00001861
Curator_confirmedWBPerson712
RemarkMutant males seem to be unable to track the hermaphrodite after contact, lose contact altogether, have difficulty escaping from spontaneous dorsal inward tail coils, and are more likely to ignore contact with a hermaphrodite.Paper_evidenceWBPaper00001861
Curator_confirmedWBPerson712
PenetranceIncompletePaper_evidenceWBPaper00001861
Curator_confirmedWBPerson712
EQ_annotationsLife_stageWBls:0000056PATO:0000460Paper_evidenceWBPaper00001861
Curator_confirmedWBPerson712
WBPhenotype:0001444Paper_evidenceWBPaper00032335
Curator_confirmedWBPerson712
RemarkAnimals exhibited defective gustatory plasticity of NaCl.Paper_evidenceWBPaper00032335
Curator_confirmedWBPerson712
Affected_byMoleculeWBMol:00003571Paper_evidenceWBPaper00032335
Curator_confirmedWBPerson712
Phenotype_assayTreatmentAnimals were tested for response to 25 mM NaCl after various pre-treatments: a 15-min wash in CTX buffer with or without 100 mM NaCl (liquid), or 30 min on a CTX plate with or without 100 mM NaCl, and in the presence or absence of bacteria, 500 mM glycerol, or 3 uL of benzaldehyde.Paper_evidenceWBPaper00032335
Curator_confirmedWBPerson712
WBPhenotype:0001518Paper_evidenceWBPaper00000365
Curator_confirmedWBPerson712
RemarkFormaldehyde induced fluorescence is (FIF) is not seen in processes; however it is seen in cell bodies.Paper_evidenceWBPaper00000365
Curator_confirmedWBPerson712
WBPhenotype:0001779Paper_evidenceWBPaper00035654
Curator_confirmedWBPerson2021
RemarkFive miRNAs were observed differentially expressed (p<0.05) in cat-1 mutants when compared to N2 wtPaper_evidenceWBPaper00035654
Curator_confirmedWBPerson2021
WBPhenotype:0004017Paper_evidenceWBPaper00042154
Curator_confirmedWBPerson1455
RemarkIn free locomotion, coordination between head movement and body center movement reduces rapidly after third day of adult stage(Fig. 7).Paper_evidenceWBPaper00042154
Curator_confirmedWBPerson1455
Phenotype_not_observedWBPhenotype:0000039Paper_evidenceWBPaper00040570
Curator_confirmedWBPerson8126
RemarkFig.1 (lifespan extension upon reserpine treatment, not different from wild type)Paper_evidenceWBPaper00040570
Curator_confirmedWBPerson8126
Affected_byMoleculeWBMol:00002955Paper_evidenceWBPaper00040570
Curator_confirmedWBPerson8126
WBPhenotype:0000456Paper_evidenceWBPaper00000365
Curator_confirmedWBPerson712
WBPhenotype:0000525Paper_evidenceWBPaper00001861
Curator_confirmedWBPerson712
WBPhenotype:0000905Paper_evidenceWBPaper00000365
Curator_confirmedWBPerson712
RemarkAssayed by EM examination, vesicles and processes of the ventral ganglion and nerve ring are not different from WT.Paper_evidenceWBPaper00000365
Curator_confirmedWBPerson712
WBPhenotype:0001206Paper_evidenceWBPaper00001861
Curator_confirmedWBPerson712
WBPhenotype:0001765Paper_evidenceWBPaper00031936
Curator_confirmedWBPerson2021
RemarkMutants defective in the synthesis and reception of nonessential excitatory neurotransmitters respond normally to CO2Paper_evidenceWBPaper00031936
Curator_confirmedWBPerson2021
EQ_annotationsLife_stageWBls:0000057PATO:0000460Paper_evidenceWBPaper00031936
Curator_confirmedWBPerson2021
Phenotype_assayTreatment10% CO2Paper_evidenceWBPaper00031936
Curator_confirmedWBPerson2021
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
Disease_infoModels_diseaseDOID:670
DOID:809
Models_disease_in_annotationWBDOannot00000684
WBDOannot00000692
Reference (16)
MethodSubstitution_allele