WormBase Tree Display for Variation: WBVar00144429

WBVar00144429 Evidence: Paper_evidence: WBPaper00004384
  Name: Public_name: e1960
    Other_name: F56H1.1.1:c.2601+1G>A
    HGVSg: CHROMOSOME_I:g.5753561G>A
  Sequence_details: SMap: S_parent: Sequence: F56H1
    Flanking_sequences: ttaccagcgttgactcatgcgttctatcag ttttttttttgaatattacatgtttccaaa
    Mapping_target: F56H1
    Type_of_mutation: Substitution: g a
    SeqStatus: Sequenced
  Variation_type: Allele
  Origin: Species: Caenorhabditis elegans
    Strain: WBStrain00004500
    Laboratory: CB
    Status: Live
  Affects: Gene: WBGene00000493
    Transcript: F56H1.1.1 VEP_consequence: splice_donor_variant
        VEP_impact: HIGH
        HGVSc: F56H1.1.1:c.2601+1G>A
        Intron_number: 18/19
  Genetics: Interpolated_map_position: I 0.440705
    Mapping_data: In_multi_point: 986
  Description: Phenotype: WBPhenotype:0000257 Person_evidence: WBPerson261
        Curator_confirmed: WBPerson712
        Remark: Some FITC uptake by amphids but not by phasmids; abnormal uptake by CEP ADE PDE; abnormal amphid channel due to misjoining of sheath and socket cell. Person_evidence: WBPerson261
            Curator_confirmed: WBPerson712
        EQ_annotations: Anatomy_term: WBbt:0005425 PATO:0000460 Person_evidence: WBPerson261
                Curator_confirmed: WBPerson712
        Ease_of_scoring: ES1_Very_hard_to_score: Person_evidence: WBPerson261
            Curator_confirmed: WBPerson712
      WBPhenotype:0000299 Person_evidence: WBPerson261
        Curator_confirmed: WBPerson712
        Remark: abnormal uptake by CEP ADE PDE; abnormal amphid channel due to misjoining of sheath and socket cell Person_evidence: WBPerson261
            Curator_confirmed: WBPerson712
        EQ_annotations: Anatomy_term: WBbt:0005244 PATO:0000460 Person_evidence: WBPerson261
                Curator_confirmed: WBPerson712
            WBbt:0005415 PATO:0000460 Person_evidence: WBPerson261
                Curator_confirmed: WBPerson712
            WBbt:0006747 PATO:0000460 Person_evidence: WBPerson261
                Curator_confirmed: WBPerson712
            WBbt:0005391 PATO:0000460 Person_evidence: WBPerson261
                Curator_confirmed: WBPerson712
      WBPhenotype:0000505 Paper_evidence: WBPaper00000932
        Curator_confirmed: WBPerson712
        Remark: No FITC staining of ray sensilla. Paper_evidence: WBPaper00000932
            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: Intermediate response to 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:0001084 Paper_evidence: WBPaper00000932
        Curator_confirmed: WBPerson712
        Remark: Intermediate response to dilute NaCl gradient. Paper_evidence: WBPaper00000932
            Curator_confirmed: WBPerson712
      WBPhenotype:0001528 Paper_evidence: WBPaper00000932
        Curator_confirmed: WBPerson712
        Remark: Socket and sheath channels are abnormal and frequently do not join properly. Paper_evidence: WBPaper00000932
            Curator_confirmed: WBPerson712
        EQ_annotations: Anatomy_term: WBbt:0005107 PATO:0000460 Paper_evidence: WBPaper00000932
                Curator_confirmed: WBPerson712
      WBPhenotype:0001530 Paper_evidence: WBPaper00000932
        Curator_confirmed: WBPerson712
        Remark: CEP frequently stains with FITC. Paper_evidence: WBPaper00000932
            Curator_confirmed: WBPerson712
      WBPhenotype:0001535 Paper_evidence: WBPaper00000932
        Curator_confirmed: WBPerson712
        Remark: ADE and PDE frequently stains with FITC. Paper_evidence: WBPaper00000932
            Curator_confirmed: WBPerson712
      WBPhenotype:0002053 Paper_evidence: WBPaper00055368
        Curator_confirmed: WBPerson466
        Remark: survive 10nM ivermectin Paper_evidence: WBPaper00055368
            Curator_confirmed: WBPerson466
        Affected_by: Molecule: WBMol:00002786 Paper_evidence: WBPaper00055368
              Curator_confirmed: WBPerson466
      WBPhenotype:0002535 Paper_evidence: WBPaper00000932
        Curator_confirmed: WBPerson712
        Remark: Amphid neurons frequently fail to stain with FITC; however phasmid neurons rarely or never stain. Paper_evidence: WBPaper00000932
            Curator_confirmed: WBPerson712
        EQ_annotations: Anatomy_term: WBbt:0005391 PATO:0000460 Paper_evidence: WBPaper00000932
                Curator_confirmed: WBPerson712
            WBbt:0005425 PATO:0000460 Paper_evidence: WBPaper00000932
                Curator_confirmed: WBPerson712
    Phenotype_not_observed: WBPhenotype:0000315 Paper_evidence: WBPaper00000932
        Curator_confirmed: WBPerson712
      WBPhenotype:0000478 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
  Reference: WBPaper00000932
    WBPaper00029016
    WBPaper00001786
    WBPaper00011810
    WBPaper00011546
    WBPaper00023432
    WBPaper00055368
    WBPaper00064927
  Method: Substitution_allele