WormBase Tree Display for Variation: WBVar00090709

WBVar00090709 Evidence: Paper_evidence: WBPaper00032217
  Name: Public_name: n3435
    Other_name: Y16B4A.1.1:c.88_563+1del
    HGVSg: CHROMOSOME_X:g.14776657_14777664del
  Sequence_details: SMap: S_parent: Sequence: CHROMOSOME_X
    Flanking_sequences: ttctttcctgactcgaataccttactcagg tttgtgtgcggggggggactttgttattca
    Mapping_target: CHROMOSOME_X
    Type_of_mutation: Deletion
    SeqStatus: Sequenced
  Variation_type: Allele
  Origin: Species: Caenorhabditis elegans
    Strain: WBStrain00005829
      WBStrain00047339
      WBStrain00047342
      WBStrain00047343
      WBStrain00047344
    Laboratory: MT
    Status: Live
  Affects: Gene: WBGene00006743
    Transcript: Y16B4A.1.1 VEP_consequence: splice_acceptor_variant,splice_donor_variant,coding_sequence_variant,intron_variant
        VEP_impact: HIGH
        HGVSc: Y16B4A.1.1:c.88_563+1del
        cDNA_position: 141-?
        CDS_position: 88-?
        Protein_position: 30-?
        Intron_number: 3-6/13
        Exon_number: 3-6/14
    Interactor: WBInteraction000503797
      WBInteraction000503798
      WBInteraction000503799
  Genetics: Interpolated_map_position: X 21.3167
  Description: Phenotype: WBPhenotype:0000099 Paper_evidence: WBPaper00032217
        Curator_confirmed: WBPerson712
        Remark: The pattern and timeing of divisions were normal. Paper_evidence: WBPaper00032217
            Curator_confirmed: WBPerson712
        Recessive: Paper_evidence: WBPaper00032217
          Curator_confirmed: WBPerson712
        Variation_effect: Probable_null_via_phenotype: Paper_evidence: WBPaper00032217
            Curator_confirmed: WBPerson712
      WBPhenotype:0000134 Paper_evidence: WBPaper00061878
        Curator_confirmed: WBPerson712
        Remark: The number of cholinergic MNs showing expression of nep-21::RFP, dmsr-2::RFP and D2007.2::RFP is significantly decreased in unc-3(n3435) animals (Figure 1A-C). Paper_evidence: WBPaper00061878
            Curator_confirmed: WBPerson712
        EQ_annotations: Anatomy_term: WBbt:0005300 PATO:0000460 Paper_evidence: WBPaper00061878
                Curator_confirmed: WBPerson712
            WBbt:0006840 PATO:0000460 Paper_evidence: WBPaper00061878
                Curator_confirmed: WBPerson712
      WBPhenotype:0000306 Paper_evidence: WBPaper00032217
        Curator_confirmed: WBPerson712
        Remark: 33 of 50 VB neurons scored at random from the P9 and P10 descendants of 25 L3 unc-3 mutants expressed Punc-4gfp, compared to none of 50 wild-type animals. Paper_evidence: WBPaper00032217
            Curator_confirmed: WBPerson712
        Recessive: Paper_evidence: WBPaper00032217
          Curator_confirmed: WBPerson712
        Variation_effect: Probable_null_via_phenotype: Paper_evidence: WBPaper00032217
            Curator_confirmed: WBPerson712
        EQ_annotations: Anatomy_term: WBbt:0005336 PATO:0000460 Paper_evidence: WBPaper00032217
                Curator_confirmed: WBPerson712
        Phenotype_assay: Genotype: Punc-4::gfp Paper_evidence: WBPaper00032217
              Curator_confirmed: WBPerson712
      WBPhenotype:0000643 Paper_evidence: WBPaper00032217
          WBPaper00040449
        Curator_confirmed: WBPerson712
          WBPerson15063
        Remark: Uncoordinated movement is indistinguishable from that of e151 or n3412. Paper_evidence: WBPaper00032217
            Curator_confirmed: WBPerson712
        Recessive: Paper_evidence: WBPaper00032217
          Curator_confirmed: WBPerson712
        Variation_effect: Probable_null_via_phenotype: Paper_evidence: WBPaper00032217
            Curator_confirmed: WBPerson712
        Phenotype_assay: Genotype: Plin-11::GFP Paper_evidence: WBPaper00032217
              Curator_confirmed: WBPerson712
      WBPhenotype:0000816 Paper_evidence: WBPaper00032217
        Curator_confirmed: WBPerson712
        Remark: Two thirds of the VB motor neurons failed to develop normally as assayed by the altered expression of VB specific marker, Pdel-1::gfp, compared to VB and DB marker, Pacr-5::gfp. The number of embryonic DB motor neurons of L1 animals, was reduced compared to wild-type. By contrast, class D neurons were normal as assayed by expression of class D-specific markers, Punc-47gfp and Punc-25gfp. The number of embryonic DA motor neurons is reduced. Paper_evidence: WBPaper00032217
            Curator_confirmed: WBPerson712
        Recessive: Paper_evidence: WBPaper00032217
          Curator_confirmed: WBPerson712
        Variation_effect: Probable_null_via_phenotype: Paper_evidence: WBPaper00032217
            Curator_confirmed: WBPerson712
        EQ_annotations: Anatomy_term: WBbt:0005336 PATO:0000460 Paper_evidence: WBPaper00032217
                Curator_confirmed: WBPerson712
            WBbt:0005274 PATO:0000460 Paper_evidence: WBPaper00032217
                Curator_confirmed: WBPerson712
            WBbt:0005278 PATO:0000460 Paper_evidence: WBPaper00032217
                Curator_confirmed: WBPerson712
        Phenotype_assay: Genotype: Punc-4::gfp Paper_evidence: WBPaper00032217
              Curator_confirmed: WBPerson712
      WBPhenotype:0001312 Paper_evidence: WBPaper00032217
        Curator_confirmed: WBPerson712
        Remark: The number of embryonic DA motor neurons is reduced to 1.3 0.2 Punc-4gfp-expressing neurons compared to 2.8 0.3 in otherwise wild-type animals although the ventral nerve cord has a normal number of neuronal nuclei (data not shown). Whereas in L3 animals, the number of Punc-4gfp-expressing neurons is increased to 15.1 0.4 neurons compared to wild-type animals with 10.9 0.3 neurons. Paper_evidence: WBPaper00032217
            Curator_confirmed: WBPerson712
        Recessive: Paper_evidence: WBPaper00032217
          Curator_confirmed: WBPerson712
        Variation_effect: Probable_null_via_phenotype: Paper_evidence: WBPaper00032217
            Curator_confirmed: WBPerson712
        EQ_annotations: Anatomy_term: WBbt:0005278 PATO:0000460 Paper_evidence: WBPaper00032217
                Curator_confirmed: WBPerson712
          Life_stage: WBls:0000024 PATO:0000460 Paper_evidence: WBPaper00032217
                Curator_confirmed: WBPerson712
        Phenotype_assay: Genotype: Punc-4::gfp Paper_evidence: WBPaper00032217
              Curator_confirmed: WBPerson712
      WBPhenotype:0002508 Paper_evidence: WBPaper00032217
        Curator_confirmed: WBPerson712
        Remark: Animals have three to four extra VC-like neurons (Plin-11::gfp or Pida-1::gfp positive) in the ventral nerve cord of adults as compared to wild-type animals. Extra VC-like neurons were also identified by using an antiserum against FMRFamide. These extra VC-like neurons arise as descendents of Pn.aa. Paper_evidence: WBPaper00032217
            Curator_confirmed: WBPerson712
        Recessive: Paper_evidence: WBPaper00032217
          Curator_confirmed: WBPerson712
        Variation_effect: Probable_null_via_phenotype: Paper_evidence: WBPaper00032217
            Curator_confirmed: WBPerson712
        EQ_annotations: Anatomy_term: WBbt:0005304 PATO:0000460 Paper_evidence: WBPaper00032217
                Curator_confirmed: WBPerson712
        Phenotype_assay: Genotype: Plin-11::gfp or Pida::gfp Paper_evidence: WBPaper00032217
              Curator_confirmed: WBPerson712
    Phenotype_not_observed: WBPhenotype:0000054 Paper_evidence: WBPaper00040449
        Curator_confirmed: WBPerson15063
      WBPhenotype:0002575 Paper_evidence: WBPaper00061878
        Curator_confirmed: WBPerson712
        Remark: We did not detect statistically significant differences in the expression of ncs-2, npr-29, and drn-1 in cholinergic MNs of unc-3(n3435) when compared to wild-type animals (Figure 1D-F). Paper_evidence: WBPaper00061878
            Curator_confirmed: WBPerson712
        EQ_annotations: Anatomy_term: WBbt:0005300 PATO:0000460 Paper_evidence: WBPaper00061878
                Curator_confirmed: WBPerson712
            WBbt:0006840 PATO:0000460 Paper_evidence: WBPaper00061878
                Curator_confirmed: WBPerson712
  Reference: WBPaper00040449
    WBPaper00032217
    WBPaper00061878
  Method: Deletion_allele