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WormBase Tree Display for Variation: WBVar00143753

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Name Class

WBVar00143753EvidencePaper_evidenceWBPaper00003844
NamePublic_namee1112
Other_nameB0432.5b.1:c.631C>T
CE37742:p.Gln211Ter
B0432.5c.1:c.826C>T
B0432.5a.1:c.841C>T
Y43H11AL.3a.2:c.-13+3945G>A
CE45548:p.Gln276Ter
CE29946:p.Gln281Ter
HGVSgCHROMOSOME_II:g.259619C>T
Sequence_detailsSMapS_parentSequenceB0432
Flanking_sequencesgcggtatatcggcaaaatttgaaaattctcaagaggagaaggttttgacagcggatagga
Mapping_targetB0432
Type_of_mutationSubstitutionct
SeqStatusSequenced
Variation_typeAllele
OriginSpeciesCaenorhabditis elegans
StrainWBStrain00004246
WBStrain00034688
WBStrain00055863
WBStrain00055864
WBStrain00055865
LaboratoryCB
IV
StatusLive
AffectsGeneWBGene00004166
WBGene00000296
TranscriptY43H11AL.3a.2VEP_consequenceintron_variant
VEP_impactMODIFIER
HGVScY43H11AL.3a.2:c.-13+3945G>A
Intron_number1/28
B0432.5c.1VEP_consequencestop_gained
VEP_impactHIGH
HGVScB0432.5c.1:c.826C>T
HGVSpCE45548:p.Gln276Ter
cDNA_position910
CDS_position826
Protein_position276
Exon_number5/9
Codon_changeCaa/Taa
Amino_acid_changeQ/*
B0432.5a.1VEP_consequencestop_gained
VEP_impactHIGH
HGVScB0432.5a.1:c.841C>T
HGVSpCE29946:p.Gln281Ter
cDNA_position841
CDS_position841
Protein_position281
Exon_number4/9
Codon_changeCaa/Taa
Amino_acid_changeQ/*
B0432.5b.1VEP_consequencestop_gained
VEP_impactHIGH
HGVScB0432.5b.1:c.631C>T
HGVSpCE37742:p.Gln211Ter
cDNA_position1547
CDS_position631
Protein_position211
Exon_number4/9
Codon_changeCaa/Taa
Amino_acid_changeQ/*
GeneticsInterpolated_map_positionII-15.661
Mapping_dataIn_2_point34
797
In_multi_point45
273
DescriptionPhenotypeWBPhenotype:0000006Paper_evidenceWBPaper00049285
WBPaper00059778
Curator_confirmedWBPerson33374
WBPerson23309
Remarkselectively during roaming statePaper_evidenceWBPaper00059778
Curator_confirmedWBPerson23309
WBPhenotype:0000164Paper_evidenceWBPaper00043908
Curator_confirmedWBPerson2987
WBPhenotype:0000227Paper_evidenceWBPaper00001861
Curator_confirmedWBPerson712
RemarkMutants were close to WT in turning abilityPaper_evidenceWBPaper00001861
Curator_confirmedWBPerson712
WBPhenotype:0000233Paper_evidenceWBPaper00000365
Curator_confirmedWBPerson712
RemarkDopamine levels are depleted.Paper_evidenceWBPaper00000365
Curator_confirmedWBPerson712
WBPhenotype:0000234Paper_evidenceWBPaper00036154
Person_evidenceWBPerson261
Curator_confirmedWBPerson712
RemarkAnimals exhibited ~75% reduction of dopamine levels as compared to N2.Paper_evidenceWBPaper00036154
Curator_confirmedWBPerson712
Dopamine reduced > 95%.Person_evidenceWBPerson261
Curator_confirmedWBPerson712
Ease_of_scoringES1_Very_hard_to_scorePerson_evidenceWBPerson261
Curator_confirmedWBPerson712
WBPhenotype:0000284Paper_evidenceWBPaper00045365
Curator_confirmedWBPerson3609
WBPhenotype:0000319Paper_evidenceWBPaper00049285
Curator_confirmedWBPerson33374
WBPhenotype:0000324Paper_evidenceWBPaper00043908
Curator_confirmedWBPerson2987
WBPhenotype:0000412Paper_evidenceWBPaper00045567
Curator_confirmedWBPerson2162
WBPhenotype:0000641Paper_evidenceWBPaper00041213
Curator_confirmedWBPerson461
RemarkThe locomotion rates of cat-2 mutants were more variable than those of wild-type animals; cat-2 mutants achieve greater peak acceleration, resulting in large fluctuations in the speed within tracks.Paper_evidenceWBPaper00041213
Curator_confirmedWBPerson461
WBPhenotype:0000642Paper_evidenceWBPaper00036154
Curator_confirmedWBPerson712
RemarkAnimals are hyperactive throughout adulthood starting on adult day 0. Treatment with exogenous dopamine rescued the locomotor dysfunction.Paper_evidenceWBPaper00036154
Curator_confirmedWBPerson712
WBPhenotype:0000648Paper_evidenceWBPaper00001861
Curator_confirmedWBPerson712
RemarkMutants exhibit a relative lack of interest in the hermaphrodite.Paper_evidenceWBPaper00001861
Curator_confirmedWBPerson712
WBPhenotype:0000662Paper_evidenceWBPaper00006375
Curator_confirmedWBPerson712
RemarkARS defective. Animals do not exhibit a higher frequency of high-angled turns during the first 5 minutes observation period.Paper_evidenceWBPaper00006375
Curator_confirmedWBPerson712
WBPhenotype:0001005Paper_evidenceWBPaper00043908
Curator_confirmedWBPerson2987
WBPhenotype:0001265Paper_evidenceWBPaper00042154
Curator_confirmedWBPerson1455
RemarkIn free locomotion, small movement of the head end is slower than the wild type (Fig. 6 and Table 3).Paper_evidenceWBPaper00042154
Curator_confirmedWBPerson1455
WBPhenotype:0001437Paper_evidenceWBPaper00028963
Curator_confirmedWBPerson48
RemarkHypersensitive to dilute concentrations of octanol, based on a comparison with wild type of time it takes to respond.Paper_evidenceWBPaper00028963
Curator_confirmedWBPerson48
Phenotype_assayTreatment5% octanol, on foodPaper_evidenceWBPaper00028963
Curator_confirmedWBPerson48
WBPhenotype:0001444Paper_evidenceWBPaper00032335
Curator_confirmedWBPerson712
RemarkAnimals were strongly defective in gustatory plasticity.Paper_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) absent.Paper_evidenceWBPaper00000365
Curator_confirmedWBPerson712
WBPhenotype:0001716Paper_evidenceWBPaper00043908
Curator_confirmedWBPerson2987
WBPhenotype:0001817Paper_evidenceWBPaper00032335
Curator_confirmedWBPerson712
RemarkAnimals exhibited weak, but significant, reduced starvation-enhanced gustatory plasticity compared to wild type.Paper_evidenceWBPaper00032335
Curator_confirmedWBPerson712
WBPhenotype:0002284Paper_evidenceWBPaper00043908
Curator_confirmedWBPerson2987
WBPhenotype:0002288Paper_evidenceWBPaper00043908
Curator_confirmedWBPerson2987
WBPhenotype:0002293Paper_evidenceWBPaper00043908
Curator_confirmedWBPerson2987
WBPhenotype:0002295Paper_evidenceWBPaper00043908
Curator_confirmedWBPerson2987
WBPhenotype:0002298Paper_evidenceWBPaper00043908
Curator_confirmedWBPerson2987
WBPhenotype:0002301Paper_evidenceWBPaper00043908
Curator_confirmedWBPerson2987
WBPhenotype:0002308Paper_evidenceWBPaper00043908
Curator_confirmedWBPerson2987
WBPhenotype:0002312Paper_evidenceWBPaper00043908
Curator_confirmedWBPerson2987
WBPhenotype:0002319Paper_evidenceWBPaper00043908
Curator_confirmedWBPerson2987
WBPhenotype:0002323Paper_evidenceWBPaper00043908
Curator_confirmedWBPerson2987
WBPhenotype:0002335Paper_evidenceWBPaper00043908
Curator_confirmedWBPerson2987
WBPhenotype:0002345Paper_evidenceWBPaper00043908
Curator_confirmedWBPerson2987
WBPhenotype:0004022Paper_evidenceWBPaper00043908
Curator_confirmedWBPerson2987
WBPhenotype:0004023Paper_evidenceWBPaper00043908
Curator_confirmedWBPerson2987
WBPhenotype:0004028Paper_evidenceWBPaper00036154
WBPaper00038270
WBPaper00041132
Curator_confirmedWBPerson712
WBPerson557
RemarkAnimals do not exhibit a basal slowing response in response to food, unlike control animals. Animals failed to slow their body bending rate.Paper_evidenceWBPaper00036154
Curator_confirmedWBPerson712
mutants fail to slow in response to foodPaper_evidenceWBPaper00038270
Curator_confirmedWBPerson712
PenetranceCompletePaper_evidenceWBPaper00038270
Curator_confirmedWBPerson712
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:0000147Paper_evidenceWBPaper00035327
Curator_confirmedWBPerson2021
RemarkFasted mutants exhibited a wild type starvation response and decreased strongly the time they spent roaming when they reencountered foodPaper_evidenceWBPaper00035327
Curator_confirmedWBPerson2021
WBPhenotype:0000222Person_evidenceWBPerson261
Curator_confirmedWBPerson712
Remarkserotonin normalPerson_evidenceWBPerson261
Curator_confirmedWBPerson712
WBPhenotype:0000227Person_evidenceWBPerson261
Curator_confirmedWBPerson712
Remarkno defect in male turning behaviorPerson_evidenceWBPerson261
Curator_confirmedWBPerson712
WBPhenotype:0000238Paper_evidenceWBPaper00035327
Curator_confirmedWBPerson2021
RemarkDopamine deficient cat-2 mutants did not have significant roaming defectsPaper_evidenceWBPaper00035327
Curator_confirmedWBPerson2021
WBPhenotype:0000424Paper_evidenceWBPaper00001861
Curator_confirmedWBPerson712
RemarkSerotonin-IR (immunoreactivity) is WT.Paper_evidenceWBPaper00001861
Curator_confirmedWBPerson712
EQ_annotationsLife_stageWBls:0000056PATO:0000460Paper_evidenceWBPaper00001861
Curator_confirmedWBPerson712
WBPhenotype:0000456Paper_evidenceWBPaper00000365
Curator_confirmedWBPerson712
WBPhenotype:0000556Paper_evidenceWBPaper00006375
Curator_confirmedWBPerson712
RemarkARS frequency of high-angled turns in the presence of exogenous dopamine is wild type as is the adaptation to dopamine over 30 minutes.Paper_evidenceWBPaper00006375
Curator_confirmedWBPerson712
WBPhenotype:0000631Paper_evidenceWBPaper00035198
Curator_confirmedWBPerson712
RemarkAnimals do not exhibit anterior convulsions when treated with pentylenetetrazole(PTZ).Paper_evidenceWBPaper00035198
Curator_confirmedWBPerson712
Affected_byMoleculeWBMol:00004251Paper_evidenceWBPaper00035198
Curator_confirmedWBPerson712
WBPhenotype:0000712Paper_evidenceWBPaper00036343
Curator_confirmedWBPerson2021
RemarkNo significant change in germ cell death in cat-2 mutants compared to wild-type worms after IRPaper_evidenceWBPaper00036343
Curator_confirmedWBPerson2021
WBPhenotype:0000905Paper_evidenceWBPaper00000365
Curator_confirmedWBPerson712
RemarkAssayed by EM examination, vesicles and processes of the ventral ganglion are not different from WT.Paper_evidenceWBPaper00000365
Curator_confirmedWBPerson712
WBPhenotype:0001101Paper_evidenceWBPaper00038382
Curator_confirmedWBPerson712
RemarkClozapine-induced increases in egg laying was present.Paper_evidenceWBPaper00038382
Curator_confirmedWBPerson712
Affected_byMoleculeWBMol:00003634Paper_evidenceWBPaper00038382
Curator_confirmedWBPerson712
WBPhenotype:0001182Paper_evidenceWBPaper00044757
Curator_confirmedWBPerson2987
RemarkFigure 2APaper_evidenceWBPaper00044757
Curator_confirmedWBPerson2987
WBPhenotype:0001326Paper_evidenceWBPaper00036343
Curator_confirmedWBPerson2021
RemarkNo significant change in germ cell death in cat-2 mutants compared to wild-type worms after IRPaper_evidenceWBPaper00036343
Curator_confirmedWBPerson2021
WBPhenotype:0001462Paper_evidenceWBPaper00032335
Curator_confirmedWBPerson712
RemarkAnimals exhibited wild-type chemotaxis to NaCl.Paper_evidenceWBPaper00032335
Curator_confirmedWBPerson712
Affected_byMoleculeWBMol:00003571Paper_evidenceWBPaper00032335
Curator_confirmedWBPerson712
Phenotype_assayTreatmentAnimals were tested for response to 25 mM NaCl.Paper_evidenceWBPaper00032335
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
DOID:14330
DOID:0050742
Models_disease_in_annotationWBDOannot00000689
WBDOannot00000690
WBDOannot00000691
WBDOannot00000969
ReferenceWBPaper00038270
WBPaper00038382
WBPaper00040570
WBPaper00041213
WBPaper00043908
WBPaper00031936
WBPaper00006375
WBPaper00035198
WBPaper00029060
WBPaper00035327
WBPaper00011065
WBPaper00032335
WBPaper00013858
WBPaper00028963
WBPaper00036343
WBPaper00000365
WBPaper00011911
WBPaper00001861
WBPaper00015660
WBPaper00036154
WBPaper00024107
WBPaper00015499
WBPaper00018971
WBPaper00042154
WBPaper00044757
WBPaper00045365
WBPaper00045567
WBPaper00049285
WBPaper00041132
WBPaper00059778
WBPaper00064979
WBPaper00065340
WBPaper00065310
WBPaper00065802
WBPaper00065715
MethodSubstitution_allele