WormBase Tree Display for Variation: WBVar00089969

WBVar00089969 Evidence: Paper_evidence: WBPaper00006247
  Name: Public_name: n1127
    Other_name: K11G9.4.1:c.405+1G>A
    HGVSg: CHROMOSOME_V:g.6680941C>T
  Sequence_details: SMap: S_parent: Sequence: K11G9
    Flanking_sequences: agttctccagtcagcggtatgttcataaag tgagtaaagctatcggctctttctaagctt
    Mapping_target: K11G9
    Type_of_mutation: Substitution: g a
    SeqStatus: Sequenced
  Variation_type: Allele
  Origin: Species: Caenorhabditis elegans
    Strain: WBStrain00026962
      WBStrain00027008
    Laboratory: MT
    Status: Live
  Affects: Gene: WBGene00001210
    Transcript: K11G9.4.1 VEP_consequence: splice_donor_variant
        VEP_impact: HIGH
        HGVSc: K11G9.4.1:c.405+1G>A
        Intron_number: 3/6
    Interactor: WBInteraction000501603
  Genetics: Interpolated_map_position: V 0.132761
  Description: Phenotype: WBPhenotype:0000006 Paper_evidence: WBPaper00001133
        Curator_confirmed: WBPerson2021
        Penetrance: High: Paper_evidence: WBPaper00001133
              Curator_confirmed: WBPerson2021
          Range: 99 99 Paper_evidence: WBPaper00001133
                Curator_confirmed: WBPerson2021
        Recessive: Paper_evidence: WBPaper00001133
          Curator_confirmed: WBPerson2021
        Variation_effect: Hypomorph_reduction_of_function: Paper_evidence: WBPaper00001133
            Curator_confirmed: WBPerson2021
        EQ_annotations: Life_stage: WBls:0000057 PATO:0000460 Paper_evidence: WBPaper00001133
                Curator_confirmed: WBPerson2021
        Phenotype_assay: Temperature: 20 Paper_evidence: WBPaper00001133
              Curator_confirmed: WBPerson2021
      WBPhenotype:0000022 Paper_evidence: WBPaper00043908
        Curator_confirmed: WBPerson2987
      WBPhenotype:0000093 Person_evidence: WBPerson261
        Curator_confirmed: WBPerson712
        Remark: Lin (abnormal Q lineage) phenotypes, n1127/Df similar. Person_evidence: WBPerson261
            Curator_confirmed: WBPerson712
        EQ_annotations: Anatomy_term: WBbt:0008593 PATO:0000460 Person_evidence: WBPerson261
                Curator_confirmed: WBPerson712
      WBPhenotype:0000154 Paper_evidence: WBPaper00001133
        Curator_confirmed: WBPerson2021
        Remark: Mutants show a 35 percent drop in brood size (compared to wild-type) Paper_evidence: WBPaper00001133
            Curator_confirmed: WBPerson2021
        Recessive: Paper_evidence: WBPaper00001133
          Curator_confirmed: WBPerson2021
        Variation_effect: Hypomorph_reduction_of_function: Paper_evidence: WBPaper00001133
            Curator_confirmed: WBPerson2021
        EQ_annotations: Life_stage: WBls:0000057 PATO:0000460 Paper_evidence: WBPaper00001133
                Curator_confirmed: WBPerson2021
        Phenotype_assay: Temperature: 20 Paper_evidence: WBPaper00001133
              Curator_confirmed: WBPerson2021
      WBPhenotype:0000180 Person_evidence: WBPerson261
        Curator_confirmed: WBPerson712
        Remark: axon defects, n1127/Df similar Person_evidence: WBPerson261
            Curator_confirmed: WBPerson712
        EQ_annotations: Anatomy_term: WBbt:0008593 PATO:0000460 Person_evidence: WBPerson261
                Curator_confirmed: WBPerson712
      WBPhenotype:0000181 Paper_evidence: WBPaper00001105
        Curator_confirmed: WBPerson2021
        Remark: HSN axons are posteriorly misdirected and never reach the nerve ring Paper_evidence: WBPaper00001105
            Curator_confirmed: WBPerson2021
        Penetrance: Low: Paper_evidence: WBPaper00001105
              Curator_confirmed: WBPerson2021
          Range: 3 3 Paper_evidence: WBPaper00001105
                Curator_confirmed: WBPerson2021
        EQ_annotations: Anatomy_term: WBbt:0006830 PATO:0000460 Paper_evidence: WBPaper00001105
                Curator_confirmed: WBPerson2021
          Life_stage: WBls:0000057 PATO:0000460 Paper_evidence: WBPaper00001105
                Curator_confirmed: WBPerson2021
      WBPhenotype:0000224 Person_evidence: WBPerson261
        Curator_confirmed: WBPerson712
        Remark: HSN cell bodies do not contain serotonin; serotonin levels increased if HSN synapse formation blocked. n1127/Df similar. Person_evidence: WBPerson261
            Curator_confirmed: WBPerson712
        EQ_annotations: Anatomy_term: WBbt:0006830 PATO:0000460 Person_evidence: WBPerson261
                Curator_confirmed: WBPerson712
      WBPhenotype:0000425 Paper_evidence: WBPaper00001105
        Curator_confirmed: WBPerson2021
        Remark: Serotonin levels are reduced in HSNs (determined immunocytochemically). Paper_evidence: WBPaper00001105
            Curator_confirmed: WBPerson2021
        EQ_annotations: Anatomy_term: WBbt:0006830 PATO:0000460 Paper_evidence: WBPaper00001105
                Curator_confirmed: WBPerson2021
          Life_stage: WBls:0000057 PATO:0000460 Paper_evidence: WBPaper00001105
                Curator_confirmed: WBPerson2021
      WBPhenotype:0000470 Paper_evidence: WBPaper00001105
        Curator_confirmed: WBPerson2021
        Remark: HSNs fail to arrive at their final destination (between P5/6 and V4). Paper_evidence: WBPaper00001105
            Curator_confirmed: WBPerson2021
        EQ_annotations: Anatomy_term: WBbt:0006830 PATO:0000460 Paper_evidence: WBPaper00001105
                Curator_confirmed: WBPerson2021
          Life_stage: WBls:0000038 PATO:0000460 Paper_evidence: WBPaper00001105
                Curator_confirmed: WBPerson2021
      WBPhenotype:0000542 Paper_evidence: WBPaper00043908
        Curator_confirmed: WBPerson2987
      WBPhenotype:0000643 Person_evidence: WBPerson261
        Curator_confirmed: WBPerson712
        Remark: Torpid Unc and Lin (abnormal Q lineage) phenotypes, n1127/Df similar. Person_evidence: WBPerson261
            Curator_confirmed: WBPerson712
      WBPhenotype:0000717 Person_evidence: WBPerson261
        Curator_confirmed: WBPerson712
        Remark: Ectopic expression of mec-7. n1127/Df similar. Person_evidence: WBPerson261
            Curator_confirmed: WBPerson712
      WBPhenotype:0000829 Paper_evidence: WBPaper00001133
        Curator_confirmed: WBPerson2021
        Remark: egl-46 mutants produce between 2-5 extra Q daughter cells Paper_evidence: WBPaper00001133
            Curator_confirmed: WBPerson2021
        Recessive: Paper_evidence: WBPaper00001133
          Curator_confirmed: WBPerson2021
        Variation_effect: Hypomorph_reduction_of_function: Paper_evidence: WBPaper00001133
            Curator_confirmed: WBPerson2021
      WBPhenotype:0000843 Paper_evidence: WBPaper00001133
        Curator_confirmed: WBPerson2021
        Remark: males mate poorly (mating efficiency is 16 percent) Paper_evidence: WBPaper00001133
            Curator_confirmed: WBPerson2021
        Recessive: Paper_evidence: WBPaper00001133
          Curator_confirmed: WBPerson2021
        Variation_effect: Hypomorph_reduction_of_function: Paper_evidence: WBPaper00001133
            Curator_confirmed: WBPerson2021
        EQ_annotations: Life_stage: WBls:0000056 PATO:0000460 Paper_evidence: WBPaper00001133
                Curator_confirmed: WBPerson2021
      WBPhenotype:0000862 Person_evidence: WBPerson261
        Curator_confirmed: WBPerson712
        Remark: Moderate bloating; n1127/Df similar. Difficult to score (ES2) in adult, very hard to score (ES1) at other stages. Person_evidence: WBPerson261
            Curator_confirmed: WBPerson712
        Ease_of_scoring: ES2_Difficult_to_score: Person_evidence: WBPerson261
            Curator_confirmed: WBPerson712
      WBPhenotype:0001005 Paper_evidence: WBPaper00043908
        Curator_confirmed: WBPerson2987
      WBPhenotype:0001224 Paper_evidence: WBPaper00001105
        Curator_confirmed: WBPerson2021
        Remark: HSN axons fail to extend ventrally from their cell bodies to the ventral cord and instead extend laterally to reach the nerve ring, their normal destination Paper_evidence: WBPaper00001105
            Curator_confirmed: WBPerson2021
        Penetrance: Low: Paper_evidence: WBPaper00001105
              Curator_confirmed: WBPerson2021
          Range: 14 14 Paper_evidence: WBPaper00001105
                Curator_confirmed: WBPerson2021
        EQ_annotations: Anatomy_term: WBbt:0006830 PATO:0000460 Paper_evidence: WBPaper00001105
                Curator_confirmed: WBPerson2021
          Life_stage: WBls:0000057 PATO:0000460 Paper_evidence: WBPaper00001105
                Curator_confirmed: WBPerson2021
      WBPhenotype:0001340 Paper_evidence: WBPaper00001133
        Person_evidence: WBPerson261
        Curator_confirmed: WBPerson2021
          WBPerson712
        Remark: See Table 1 Paper_evidence: WBPaper00001133
            Curator_confirmed: WBPerson2021
          not stimulated by imipramine; n1127/Df similar Person_evidence: WBPerson261
            Curator_confirmed: WBPerson712
        Penetrance: Complete: Paper_evidence: WBPaper00001133
              Curator_confirmed: WBPerson2021
          Range: 100 100 Paper_evidence: WBPaper00001133
                Curator_confirmed: WBPerson2021
        Recessive: Paper_evidence: WBPaper00001133
          Curator_confirmed: WBPerson2021
        Variation_effect: Hypomorph_reduction_of_function: Paper_evidence: WBPaper00001133
            Curator_confirmed: WBPerson2021
        EQ_annotations: Life_stage: WBls:0000057 PATO:0000460 Paper_evidence: WBPaper00001133
                Curator_confirmed: WBPerson2021
        Phenotype_assay: Treatment: 0.75 mg/ml imipramine Paper_evidence: WBPaper00001133
              Curator_confirmed: WBPerson2021
          Temperature: 24 Paper_evidence: WBPaper00001133
              Curator_confirmed: WBPerson2021
      WBPhenotype:0002284 Paper_evidence: WBPaper00043908
        Curator_confirmed: WBPerson2987
      WBPhenotype:0002288 Paper_evidence: WBPaper00043908
        Curator_confirmed: WBPerson2987
      WBPhenotype:0002293 Paper_evidence: WBPaper00043908
        Curator_confirmed: WBPerson2987
      WBPhenotype:0002296 Paper_evidence: WBPaper00043908
        Curator_confirmed: WBPerson2987
      WBPhenotype:0002298 Paper_evidence: WBPaper00043908
        Curator_confirmed: WBPerson2987
      WBPhenotype:0002301 Paper_evidence: WBPaper00043908
        Curator_confirmed: WBPerson2987
      WBPhenotype:0002310 Paper_evidence: WBPaper00043908
        Curator_confirmed: WBPerson2987
      WBPhenotype:0002312 Paper_evidence: WBPaper00043908
        Curator_confirmed: WBPerson2987
      WBPhenotype:0002321 Paper_evidence: WBPaper00043908
        Curator_confirmed: WBPerson2987
      WBPhenotype:0002323 Paper_evidence: WBPaper00043908
        Curator_confirmed: WBPerson2987
      WBPhenotype:0002347 Paper_evidence: WBPaper00043908
        Curator_confirmed: WBPerson2987
      WBPhenotype:0004022 Paper_evidence: WBPaper00043908
        Curator_confirmed: WBPerson2987
      WBPhenotype:0004023 Paper_evidence: WBPaper00043908
        Curator_confirmed: WBPerson2987
    Phenotype_not_observed: WBPhenotype:0001068 Paper_evidence: WBPaper00001133
        Curator_confirmed: WBPerson2021
        Recessive: Paper_evidence: WBPaper00001133
          Curator_confirmed: WBPerson2021
        Variation_effect: Hypomorph_reduction_of_function: Paper_evidence: WBPaper00001133
            Curator_confirmed: WBPerson2021
        EQ_annotations: Life_stage: WBls:0000057 PATO:0000460 Paper_evidence: WBPaper00001133
                Curator_confirmed: WBPerson2021
        Phenotype_assay: Treatment: 7.5 mg/ml serotonin Paper_evidence: WBPaper00001133
              Curator_confirmed: WBPerson2021
          Temperature: 24 Paper_evidence: WBPaper00001133
              Curator_confirmed: WBPerson2021
      WBPhenotype:0001629 Person_evidence: WBPerson261
        Curator_confirmed: WBPerson712
        Remark: stimulated by serotonin, n1127/Df similar Person_evidence: WBPerson261
            Curator_confirmed: WBPerson712
  Reference: WBPaper00043908
    WBPaper00016320
    WBPaper00001105
    WBPaper00001133
    WBPaper00014232
  Method: Substitution_allele