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WormBase Tree Display for Variation: WBVar00000075

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Name Class

WBVar00000075EvidencePaper_evidenceWBPaper00031996
NamePublic_namead997
Other_nameCE07721:p.Ser761Phe
B0365.3.2:c.2282C>T
B0365.3.1:c.2282C>T
HGVSgCHROMOSOME_V:g.13127464G>A
Sequence_detailsSMapS_parentSequenceB0365
Flanking_sequencesacacactcacctcaaatattccagaaatcttccattcttgacctacatcctgttcggaat
Mapping_targetB0365
Type_of_mutationSubstitutionctPaper_evidenceWBPaper00031996
SeqStatusSequenced
Variation_typeAllele
OriginSpeciesCaenorhabditis elegans
StrainWBStrain00005529
LaboratoryDA
StatusLive
AffectsGeneWBGene00001137
TranscriptB0365.3.2VEP_consequencemissense_variant
VEP_impactMODERATE
HGVScB0365.3.2:c.2282C>T
HGVSpCE07721:p.Ser761Phe
cDNA_position2290
CDS_position2282
Protein_position761
Exon_number4/8
Codon_changetCt/tTt
Amino_acid_changeS/F
B0365.3.1VEP_consequencemissense_variant
VEP_impactMODERATE
HGVScB0365.3.1:c.2282C>T
HGVSpCE07721:p.Ser761Phe
cDNA_position2290
CDS_position2282
Protein_position761
Exon_number4/7
Codon_changetCt/tTt
Amino_acid_changeS/F
GeneticsInterpolated_map_positionV4.93579
DescriptionPhenotypeWBPhenotype:0000019Paper_evidenceWBPaper00031996
Curator_confirmedWBPerson712
Phenotype_assayTreatmentAnimals were measured for number of pharyngeal pumps in 30 sec (n=12).Paper_evidenceWBPaper00031996
Curator_confirmedWBPerson712
WBPhenotype:0000154Paper_evidenceWBPaper00031996
Curator_confirmedWBPerson712
WBPhenotype:0001203Paper_evidenceWBPaper00031996
Curator_confirmedWBPerson712
RemarkAnimals appeared to be weakly resistant to the Ach agonist nicotine,Paper_evidenceWBPaper00031996
Curator_confirmedWBPerson712
Affected_byMoleculeWBMol:00001980Paper_evidenceWBPaper00031996
Curator_confirmedWBPerson712
Phenotype_assayTreatment25 young-adult animals were placed on an agar plate containing 10 mM nicotine. Paralysis was examined by probing the animals with a thin glass picker every 10 min. The animals were defined as 'paralyzed' if they showed no body-bending across the midline (see Doi and Iwasaki, 2002).Paper_evidenceWBPaper00031996
Curator_confirmedWBPerson712
Phenotype_not_observedWBPhenotype:0000436Paper_evidenceWBPaper00031996
Curator_confirmedWBPerson712
RemarkAnimals showed strong intracellular accumulation of UNC-29::GFP fusion protein with slight accumulation of the at the NMJ, similar to the pattern observed in wild-type animals. Large aggregates of the ACR-16::GFP fusion protein were observed in muscle cells.Paper_evidenceWBPaper00031996
Curator_confirmedWBPerson712
EQ_annotationsAnatomy_termWBbt:0006804PATO:0000460Paper_evidenceWBPaper00031996
Curator_confirmedWBPerson712
Phenotype_assayGenotypeIs[Pmyo-3::UNC-29::GFP]Paper_evidenceWBPaper00031996
Curator_confirmedWBPerson712
WBPhenotype:0000655Paper_evidenceWBPaper00031996
Curator_confirmedWBPerson712
RemarkAnimals responded like wild type to GABA agonist muscimol (data not shown)Paper_evidenceWBPaper00031996
Curator_confirmedWBPerson712
Affected_byMoleculeWBMol:00003906Paper_evidenceWBPaper00031996
Curator_confirmedWBPerson712
EQ_annotationsAnatomy_termWBbt:0006804PATO:0000460Paper_evidenceWBPaper00031996
Curator_confirmedWBPerson712
Phenotype_assayTreatmentAnimals were treated with muscimol.Paper_evidenceWBPaper00031996
Curator_confirmedWBPerson712
WBPhenotype:0000656Paper_evidenceWBPaper00031996
Curator_confirmedWBPerson712
RemarkNo abnormalities in cholinergic transmission or nAchR localization were observed.Paper_evidenceWBPaper00031996
Curator_confirmedWBPerson712
WBPhenotype:0000680Paper_evidenceWBPaper00031996
Curator_confirmedWBPerson712
RemarkIn contrast, the response of the eat-6(ad997) mutants was similar to that of the wild-type animals.Paper_evidenceWBPaper00031996
Curator_confirmedWBPerson712
Affected_byMoleculeWBMol:00003650Paper_evidenceWBPaper00031996
Curator_confirmedWBPerson712
Phenotype_assayTreatment25 young-adult animals were placed on an agar plate containing 1 mM aldicarb. Paralysis was examined by probing the animals with a thin glass picker every 10 min. The animals were defined as 'paralyzed' if they showed no body-bending across the midline (see Doi and Iwasaki, 2002).Paper_evidenceWBPaper00031996
Curator_confirmedWBPerson712
WBPhenotype:0000845Paper_evidenceWBPaper00031996
Curator_confirmedWBPerson712
RemarkResponse to the Ach agonist, levamisole was not any different from that observed for wild-type animals.Paper_evidenceWBPaper00031996
Curator_confirmedWBPerson712
Affected_byMoleculeWBMol:00004019Paper_evidenceWBPaper00031996
Curator_confirmedWBPerson712
Phenotype_assayTreatment25 young-adult animals were placed on an agar plate containing 100 M levamisole. Paralysis was examined by probing the animals with a thin glass picker every 10 min. The animals were defined as 'paralyzed' if they showed no body-bending across the midline (see Doi and Iwasaki, 2002).Paper_evidenceWBPaper00031996
Curator_confirmedWBPerson712
WBPhenotype:0001321Paper_evidenceWBPaper00031996
Curator_confirmedWBPerson712
RemarkNo gross differences were observed in the pan-neuronal or GABAergic pattern or expression levels of synaptic vesicle protein SNB-1::GFP compared to wild type.Paper_evidenceWBPaper00031996
Curator_confirmedWBPerson712
EQ_annotationsAnatomy_termWBbt:0005829PATO:0000460Paper_evidenceWBPaper00031996
Curator_confirmedWBPerson712
Phenotype_assayGenotypejsIs1 (Psnb-1::SNB-1::GFP) or juIs1 (Punc-25::SNB-1::GFP)Paper_evidenceWBPaper00031996
Curator_confirmedWBPerson712
WBPhenotype:0001409Paper_evidenceWBPaper00031996
Curator_confirmedWBPerson712
RemarkLarge aggregates of the ACR-16::GFP fusion protein were observed in muscle cells.Paper_evidenceWBPaper00031996
Curator_confirmedWBPerson712
EQ_annotationsAnatomy_termWBbt:0006804PATO:0000460Paper_evidenceWBPaper00031996
Curator_confirmedWBPerson712
Phenotype_assayGenotypepMD906 (Pmyo-3::ACR-16::GFP)Paper_evidenceWBPaper00031996
Curator_confirmedWBPerson712
WBPhenotype:0001685Paper_evidenceWBPaper00031996
Curator_confirmedWBPerson712
RemarkExpression of membrane inserted LEV-1 receptors was similar to that observed in wild-type animals. GABA receptor localization and expression was not affected.Paper_evidenceWBPaper00031996
Curator_confirmedWBPerson712
EQ_annotationsAnatomy_termWBbt:0006804PATO:0000460Paper_evidenceWBPaper00031996
Curator_confirmedWBPerson712
Phenotype_assayTreatmentFor assaying LEV-1 protein localization, animals were injected with fluorescently-labeled anti-HA antibodies into the body cavity (Gottschalk et al., 2005; Gottschalk and Schafer, 2006) and were observed 6 hours later.Paper_evidenceWBPaper00031996
Curator_confirmedWBPerson712
GenotypeIs[Pmyo-3::UNC-29::GFP] or LEV::3xHA or oxIs22(Punc-49::UNC-49B::GFP)Paper_evidenceWBPaper00031996
Curator_confirmedWBPerson712
ReferenceWBPaper00031996
MethodSubstitution_allele