WormBase Tree Display for Variation: WBVar00144323

WBVar00144323 Evidence: Paper_evidence: WBPaper00031483
  Name: Public_name: e1812
    Other_name: B0024.8b.1:c.873+1G>A
      B0024.8c.1:c.606+1G>A
      B0024.8a.1:c.2649+1G>A
      B0024.8d.1:c.600+1G>A
    HGVSg: CHROMOSOME_V:g.10301158C>T
  Sequence_details: SMap: S_parent: Sequence: B0024
    Flanking_sequences: aactccaaaattgattcagaaatggaaaag tacaaaacaaatgtagacttaaaataacaa
    Mapping_target: B0024
    Type_of_mutation: Substitution: g a Paper_evidence: WBPaper00031483
    SeqStatus: Sequenced
  Variation_type: Allele
  Origin: Species: Caenorhabditis elegans
    Strain: WBStrain00004477
    Laboratory: CB
    Status: Live
  Affects: Gene: WBGene00000491
    Transcript: B0024.8d.1 VEP_consequence: splice_donor_variant
        VEP_impact: HIGH
        HGVSc: B0024.8d.1:c.600+1G>A
        Intron_number: 6/13
      B0024.8b.1 VEP_consequence: splice_donor_variant
        VEP_impact: HIGH
        HGVSc: B0024.8b.1:c.873+1G>A
        Intron_number: 8/15
      B0024.8c.1 VEP_consequence: splice_donor_variant
        VEP_impact: HIGH
        HGVSc: B0024.8c.1:c.606+1G>A
        Intron_number: 6/12
      B0024.8a.1 VEP_consequence: splice_donor_variant
        VEP_impact: HIGH
        HGVSc: B0024.8a.1:c.2649+1G>A
        Intron_number: 17/24
  Genetics: Interpolated_map_position: V 2.45535
    Mapping_data: In_2_point: 791
      In_multi_point: 723
        1173
        3064
        3065
        3066
  Description: Phenotype: WBPhenotype:0000131 Paper_evidence: WBPaper00049337
        Person_evidence: WBPerson10260
        Curator_confirmed: WBPerson10260
          WBPerson712
        Remark: Figure 3B and data not shown. Paper_evidence: WBPaper00049337
            Person_evidence: WBPerson10260
            Curator_confirmed: WBPerson10260
          The independently isolated che-12(e1812) mutant also exhibited strong defects in ascaroside-induced dauer formation. Paper_evidence: WBPaper00049337
            Curator_confirmed: WBPerson712
        Recessive: Paper_evidence: WBPaper00049337
          Curator_confirmed: WBPerson712
        Affected_by: Molecule: WBMol:00005104 Paper_evidence: WBPaper00049337
              Curator_confirmed: WBPerson712
        Phenotype_assay: Genotype: kyIs128[str-3p::GFP] Paper_evidence: WBPaper00049337
              Curator_confirmed: WBPerson712
      WBPhenotype:0000249 Person_evidence: WBPerson261
        Curator_confirmed: WBPerson712
        Remark: defective osmotic avoidance Person_evidence: WBPerson261
            Curator_confirmed: WBPerson712
      WBPhenotype:0000260 Person_evidence: WBPerson261
        Curator_confirmed: WBPerson712
        Remark: amphid sheath cells fail to secrete matrix material Person_evidence: WBPerson261
            Curator_confirmed: WBPerson712
      WBPhenotype:0000637 Paper_evidence: WBPaper00000932
        Curator_confirmed: WBPerson712
        Remark: Intermediate response to dauer inducing conditions as assayed through SDS resistance of animals from a crowded, starved plate. Paper_evidence: WBPaper00000932
            Curator_confirmed: WBPerson712
      WBPhenotype:0000663 Paper_evidence: WBPaper00000932
        Curator_confirmed: WBPerson712
        Remark: Defective in avoidance of concentrated NaCl. Paper_evidence: WBPaper00000932
            Curator_confirmed: WBPerson712
      WBPhenotype:0000843 Paper_evidence: WBPaper00000932
        Curator_confirmed: WBPerson712
        Remark: Mating efficiency 3; 10-30% of WT mating efficiency. 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:0001526 Paper_evidence: WBPaper00049337
        Curator_confirmed: WBPerson712
        Remark: ASK cilia length is significantly shorter in mutants. Paper_evidence: WBPaper00049337
            Curator_confirmed: WBPerson712
        Recessive: Paper_evidence: WBPaper00049337
          Curator_confirmed: WBPerson712
        EQ_annotations: Anatomy_term: WBbt:0005668 PATO:0000460 Paper_evidence: WBPaper00049337
                Curator_confirmed: WBPerson712
        Phenotype_assay: Genotype: kyIs128[str-3p::GFP] Paper_evidence: WBPaper00049337
              Curator_confirmed: WBPerson712
      WBPhenotype:0002053 Paper_evidence: WBPaper00055368
        Curator_confirmed: WBPerson466
        Affected_by: Molecule: WBMol:00002786 Paper_evidence: WBPaper00055368
              Curator_confirmed: WBPerson466
      WBPhenotype:0002535 Paper_evidence: WBPaper00002087
          WBPaper00000932
        Person_evidence: WBPerson261
        Curator_confirmed: WBPerson48
          WBPerson712
        Remark: Defects in dye filling. Paper_evidence: WBPaper00002087
            Curator_confirmed: WBPerson48
          Consistent strong FITC staining of ADF and consistently weak staining of other amphids and phasmids. Paper_evidence: WBPaper00000932
            Curator_confirmed: WBPerson712
          Dyf (weak FITC uptake by amphids and phasmids) Person_evidence: WBPerson261
            Curator_confirmed: WBPerson712
        Recessive: Paper_evidence: WBPaper00002087
          Curator_confirmed: WBPerson48
        Ease_of_scoring: ES1_Very_hard_to_score: Person_evidence: WBPerson261
            Curator_confirmed: WBPerson712
    Phenotype_not_observed: WBPhenotype:0000505 Paper_evidence: WBPaper00000932
        Curator_confirmed: WBPerson712
        Remark: No FITC staining of ray sensilla. Paper_evidence: WBPaper00000932
            Curator_confirmed: WBPerson712
      WBPhenotype:0000649 Paper_evidence: WBPaper00003680
        Curator_confirmed: WBPerson712
        Remark: males are not defective in response or vulva location Paper_evidence: WBPaper00003680
            Curator_confirmed: WBPerson712
      WBPhenotype:0001084 Paper_evidence: WBPaper00000932
        Curator_confirmed: WBPerson712
        Remark: Normal response to dilute NaCl gradient. Paper_evidence: WBPaper00000932
            Curator_confirmed: WBPerson712
      WBPhenotype:0001438 Paper_evidence: WBPaper00001786
        Curator_confirmed: WBPerson2021
        EQ_annotations: Life_stage: WBls:0000041 PATO:0000460 Paper_evidence: WBPaper00001786
                Curator_confirmed: WBPerson2021
      WBPhenotype:0001530 Paper_evidence: WBPaper00000932
        Curator_confirmed: WBPerson712
        Remark: No FITC staining of CEP. Paper_evidence: WBPaper00000932
            Curator_confirmed: WBPerson712
      WBPhenotype:0001535 Paper_evidence: WBPaper00000932
        Curator_confirmed: WBPerson712
        Remark: No FITC staining of ADE or PDE. Paper_evidence: WBPaper00000932
            Curator_confirmed: WBPerson712
      WBPhenotype:0001660 Paper_evidence: WBPaper00006052
        Curator_confirmed: WBPerson2021
        Remark: No disruption of ASE asymmetry (as seen with lim-6 reporters) Paper_evidence: WBPaper00006052
            Curator_confirmed: WBPerson2021
        Variation_effect: Probable_null_via_phenotype: Paper_evidence: WBPaper00006052
            Curator_confirmed: WBPerson2021
        Phenotype_assay: Genotype: otIs114, otIs6 Paper_evidence: WBPaper00006052
              Curator_confirmed: WBPerson2021
      WBPhenotype:0004004 Paper_evidence: WBPaper00003680
        Curator_confirmed: WBPerson712
        Remark: males are not defective in response or vulva location Paper_evidence: WBPaper00003680
            Curator_confirmed: WBPerson712
  Reference: WBPaper00000932
    WBPaper00029016
    WBPaper00006052
    WBPaper00022504
    WBPaper00002087
    WBPaper00001786
    WBPaper00003680
    WBPaper00049337
    WBPaper00055368
    WBPaper00064927
  Method: Substitution_allele