WormBase Tree Display for Variation: WBVar00143862

WBVar00143862 Evidence: Paper_evidence: WBPaper00004136
  Name: Public_name: e1253
    Other_name: F18C12.1.1:c.3546-1G>A
    HGVSg: CHROMOSOME_I:g.8076322C>T
  Sequence_details: SMap: S_parent: Sequence: F18C12
    Flanking_sequences: gaagtgaaactaaaagcttcaaaatttgta aggaaccacaattgaaaagttgaaattcgc
    Mapping_target: F18C12
    Type_of_mutation: Substitution: G A
    SeqStatus: Sequenced
  Variation_type: Allele
  Origin: Species: Caenorhabditis elegans
    Strain: WBStrain00004276
    Laboratory: CB
    Status: Live
  Affects: Gene: WBGene00000485
    Transcript: F18C12.1.1 VEP_consequence: splice_acceptor_variant
        VEP_impact: HIGH
        HGVSc: F18C12.1.1:c.3546-1G>A
        Intron_number: 15/48
  Genetics: Interpolated_map_position: I 2.45385
  Description: Phenotype: WBPhenotype:0000247 Paper_evidence: WBPaper00000214
        Curator_confirmed: WBPerson712
        Remark: Mutants are 15% responsive to Na+ in a behavior orientation assay. WT worms are 95% responsive (based on sustained distance from attractant). Paper_evidence: WBPaper00000214
            Curator_confirmed: WBPerson712
      WBPhenotype:0000254 Paper_evidence: WBPaper00000214
        Curator_confirmed: WBPerson712
        Remark: Mutants behave like WT in a Cl- gradient selection assay; however they are 10% responsive to Cl- in behavior orientation assay (based on sustained distance from attractant), WT are 70% responsive. Paper_evidence: WBPaper00000214
            Curator_confirmed: WBPerson712
      WBPhenotype:0000256 Paper_evidence: WBPaper00000214
        Curator_confirmed: WBPerson712
        Remark: Amphidial neurons e though l are missing ciliated tips. Paper_evidence: WBPaper00000214
            Curator_confirmed: WBPerson712
      WBPhenotype:0000456 Paper_evidence: WBPaper00000214
        Curator_confirmed: WBPerson712
      WBPhenotype:0000637 Paper_evidence: WBPaper00000214
        Curator_confirmed: WBPerson712
        Remark: Mutants form Dauers poorly. Paper_evidence: WBPaper00000214
            Curator_confirmed: WBPerson712
      WBPhenotype:0000646 Paper_evidence: WBPaper00000214
        Curator_confirmed: WBPerson712
        Remark: Mutants are lethargic Paper_evidence: WBPaper00000214
            Curator_confirmed: WBPerson712
      WBPhenotype:0000843 Paper_evidence: WBPaper00000932
        Curator_confirmed: WBPerson712
        Remark: Mating efficiency of 0, no detected matings. Paper_evidence: WBPaper00000932
            Curator_confirmed: WBPerson712
        EQ_annotations: Life_stage: WBls:0000056 PATO:0000460 Paper_evidence: WBPaper00000932
                Curator_confirmed: WBPerson712
        Phenotype_assay: Genotype: him-5(e1490) Paper_evidence: WBPaper00000932
              Curator_confirmed: WBPerson712
      WBPhenotype:0000863 Paper_evidence: WBPaper00000214
        Curator_confirmed: WBPerson712
        Remark: Mutant males are less potent than WT. Paper_evidence: WBPaper00000214
            Curator_confirmed: WBPerson712
      WBPhenotype:0001530 Paper_evidence: WBPaper00000932
        Curator_confirmed: WBPerson712
        Remark: Occasional staining of CEP with FITC. Paper_evidence: WBPaper00000932
            Curator_confirmed: WBPerson712
      WBPhenotype:0001535 Paper_evidence: WBPaper00000932
        Curator_confirmed: WBPerson712
        Remark: Occasional staining of ADE and PDE with FITC. Paper_evidence: WBPaper00000932
            Curator_confirmed: WBPerson712
      WBPhenotype:0002535 Paper_evidence: WBPaper00002087
          WBPaper00000932
        Curator_confirmed: WBPerson48
          WBPerson712
        Remark: defects in dye filling Paper_evidence: WBPaper00002087
            Curator_confirmed: WBPerson48
          No FITC staining by amphids or phasmids. Paper_evidence: WBPaper00000932
            Curator_confirmed: WBPerson712
        Recessive: Paper_evidence: WBPaper00002087
          Curator_confirmed: WBPerson48
    Phenotype_not_observed: WBPhenotype:0000315 Paper_evidence: WBPaper00000932
        Curator_confirmed: WBPerson712
      WBPhenotype:0000478 Paper_evidence: WBPaper00000932
        Curator_confirmed: WBPerson712
      WBPhenotype:0000505 Paper_evidence: WBPaper00000932
        Curator_confirmed: WBPerson712
        Remark: No FITC staining of Ray sensilla. Paper_evidence: WBPaper00000932
            Curator_confirmed: WBPerson712
  Reference: WBPaper00000932
    WBPaper00002087
    WBPaper00000214
  Method: Substitution_allele