WormBase Tree Display for Variation: WBVar00092007

WBVar00092007 Evidence: Paper_evidence: WBPaper00033002
  Name: Public_name: ok725
    Other_name (15)
    HGVSg: CHROMOSOME_X:g.13869540_13870374del
  Sequence_details: SMap: S_parent: Sequence: T21H8
    Flanking_sequences: agtggagaatgcatgaaaatcttcctaaaa acctataacaaaccataatataattttttt
    Mapping_target: T21H8
    Type_of_mutation: Deletion
    PCR_product: ok725_external
      ok725_internal
    SeqStatus: Sequenced
  Variation_type: Allele
  Origin: Species: Caenorhabditis elegans
    Strain: WBStrain00031591
    Laboratory: RB
    Person: WBPerson46
    KO_consortium_allele
    Status: Live
  Affects: Gene: WBGene00011904
    Transcript: T21H8.1m.1 VEP_consequence: splice_acceptor_variant,splice_donor_variant,coding_sequence_variant,intron_variant
        VEP_impact: HIGH
        HGVSc: T21H8.1m.1:c.168_420+208del
        cDNA_position: 168-?
        CDS_position: 168-?
        Protein_position: 56-?
        Intron_number: 3-4/12
        Exon_number: 3-4/13
      T21H8.1l.1 VEP_consequence: splice_acceptor_variant,splice_donor_variant,coding_sequence_variant,intron_variant
        VEP_impact: HIGH
        HGVSc: T21H8.1l.1:c.429_681+208del
        cDNA_position: 429-?
        CDS_position: 429-?
        Protein_position: 143-?
        Intron_number: 5-6/14
        Exon_number: 5-6/15
      T21H8.1k.2 VEP_consequence: splice_acceptor_variant,splice_donor_variant,coding_sequence_variant,intron_variant
        VEP_impact: HIGH
        HGVSc: T21H8.1k.2:c.429_681+208del
        cDNA_position: 555-?
        CDS_position: 429-?
        Protein_position: 143-?
        Intron_number: 6-7/16
        Exon_number: 6-7/17
      T21H8.1k.1 VEP_consequence: splice_acceptor_variant,splice_donor_variant,coding_sequence_variant,intron_variant
        VEP_impact: HIGH
        HGVSc: T21H8.1k.1:c.429_681+208del
        cDNA_position: 639-?
        CDS_position: 429-?
        Protein_position: 143-?
        Intron_number: 7-8/16
        Exon_number: 7-8/17
      T21H8.1a.1 VEP_consequence: splice_acceptor_variant,splice_donor_variant,coding_sequence_variant,intron_variant
        VEP_impact: HIGH
        HGVSc: T21H8.1a.1:c.579_831+208del
        cDNA_position: 587-?
        CDS_position: 579-?
        Protein_position: 193-?
        Intron_number: 5-6/15
        Exon_number: 5-6/16
      T21H8.1d.1 VEP_consequence: splice_donor_variant,coding_sequence_variant,intron_variant
        VEP_impact: HIGH
        HGVSc: T21H8.1d.1:c.579_691-436del
        cDNA_position: 579-?
        CDS_position: 579-?
        Protein_position: 193-?
        Intron_number: 4/13
        Exon_number: 4/14
      T21H8.1h.1 VEP_consequence: splice_acceptor_variant,splice_donor_variant,coding_sequence_variant,intron_variant
        VEP_impact: HIGH
        HGVSc: T21H8.1h.1:c.705_957+208del
        cDNA_position: 705-?
        CDS_position: 705-?
        Protein_position: 235-?
        Intron_number: 7-8/17
        Exon_number: 7-8/18
      T21H8.1b.1 VEP_consequence: splice_acceptor_variant,splice_donor_variant,coding_sequence_variant,intron_variant
        VEP_impact: HIGH
        HGVSc: T21H8.1b.1:c.579_831+208del
        cDNA_position: 579-?
        CDS_position: 579-?
        Protein_position: 193-?
        Intron_number: 4-5/14
        Exon_number: 4-5/15
      T21H8.1c.1 VEP_consequence: splice_donor_variant,coding_sequence_variant,intron_variant
        VEP_impact: HIGH
        HGVSc: T21H8.1c.1:c.579_691-436del
        cDNA_position: 579-?
        CDS_position: 579-?
        Protein_position: 193-?
        Intron_number: 4/12
        Exon_number: 4/13
      T21H8.1i.1 VEP_consequence: splice_acceptor_variant,splice_donor_variant,coding_sequence_variant,intron_variant
        VEP_impact: HIGH
        HGVSc: T21H8.1i.1:c.627_879+208del
        cDNA_position: 633-?
        CDS_position: 627-?
        Protein_position: 209-?
        Intron_number: 7-8/17
        Exon_number: 7-8/18
      T21H8.1n.1 VEP_consequence: splice_acceptor_variant,splice_donor_variant,coding_sequence_variant,intron_variant
        VEP_impact: HIGH
        HGVSc: T21H8.1n.1:c.168_420+208del
        cDNA_position: 168-?
        CDS_position: 168-?
        Protein_position: 56-?
        Intron_number: 3-4/12
        Exon_number: 3-4/13
      T21H8.1s.1 VEP_consequence: splice_acceptor_variant,splice_donor_variant,coding_sequence_variant,intron_variant
        VEP_impact: HIGH
        HGVSc: T21H8.1s.1:c.132_384+208del
        cDNA_position: 132-?
        CDS_position: 132-?
        Protein_position: 44-?
        Intron_number: 3-4/12
        Exon_number: 3-4/13
      T21H8.1r.1 VEP_consequence: splice_acceptor_variant,splice_donor_variant,coding_sequence_variant,intron_variant
        VEP_impact: HIGH
        HGVSc: T21H8.1r.1:c.132_384+208del
        cDNA_position: 132-?
        CDS_position: 132-?
        Protein_position: 44-?
        Intron_number: 3-4/12
        Exon_number: 3-4/13
      T21H8.1j.1 VEP_consequence: splice_acceptor_variant,splice_donor_variant,coding_sequence_variant,intron_variant
        VEP_impact: HIGH
        HGVSc: T21H8.1j.1:c.627_879+208del
        cDNA_position: 627-?
        CDS_position: 627-?
        Protein_position: 209-?
        Intron_number: 6-7/16
        Exon_number: 6-7/17
      T21H8.1g.1 VEP_consequence: splice_acceptor_variant,splice_donor_variant,coding_sequence_variant,intron_variant
        VEP_impact: HIGH
        HGVSc: T21H8.1g.1:c.705_957+208del
        cDNA_position: 751-?
        CDS_position: 705-?
        Protein_position: 235-?
        Intron_number: 8-9/18
        Exon_number: 8-9/19
  Isolation: Mutagen: UV/TMP
  Description: Phenotype: WBPhenotype:0000017 Paper_evidence: WBPaper00033002
        Curator_confirmed: WBPerson2021
        Remark: Compared to wild-type, hlb-1 (ok725) animals were highly resistant to aldicarb Paper_evidence: WBPaper00033002
            Curator_confirmed: WBPerson2021
        Variation_effect: Probable_null_via_phenotype: Paper_evidence: WBPaper00033002
            Curator_confirmed: WBPerson2021
        Affected_by: Molecule: WBMol:00003650 Paper_evidence: WBPaper00033002
              Curator_confirmed: WBPerson2021
      WBPhenotype:0000019 Paper_evidence: WBPaper00033002
        Curator_confirmed: WBPerson2021
        Remark: Reduced pumping rate in old adults Paper_evidence: WBPaper00033002
            Curator_confirmed: WBPerson2021
        Variation_effect: Probable_null_via_phenotype: Paper_evidence: WBPaper00033002
            Curator_confirmed: WBPerson2021
        EQ_annotations: Life_stage: WBls:0000069 PATO:0000460 Paper_evidence: WBPaper00033002
                Curator_confirmed: WBPerson2021
      WBPhenotype:0000154 Paper_evidence: WBPaper00033002
        Curator_confirmed: WBPerson2021
        Remark: Reduced brood size Paper_evidence: WBPaper00033002
            Curator_confirmed: WBPerson2021
        Variation_effect: Probable_null_via_phenotype: Paper_evidence: WBPaper00033002
            Curator_confirmed: WBPerson2021
        EQ_annotations: Life_stage: WBls:0000057 PATO:0000460 Paper_evidence: WBPaper00033002
                Curator_confirmed: WBPerson2021
      WBPhenotype:0000273 Paper_evidence: WBPaper00033002
        Curator_confirmed: WBPerson2021
        Remark: Noticeable decrease in thrashing frequency for both the L1 larvae and adult nematodes compared to wild-type Paper_evidence: WBPaper00033002
            Curator_confirmed: WBPerson2021
        Variation_effect: Probable_null_via_phenotype: Paper_evidence: WBPaper00033002
            Curator_confirmed: WBPerson2021
        EQ_annotations: Life_stage: WBls:0000024 PATO:0000460 Paper_evidence: WBPaper00033002
                Curator_confirmed: WBPerson2021
            WBls:0000041 PATO:0000460 Paper_evidence: WBPaper00033002
                Curator_confirmed: WBPerson2021
      WBPhenotype:0000421 Paper_evidence: WBPaper00033002
        Curator_confirmed: WBPerson2021
        Remark: Compared to wild-type, hlb-1 (ok725) animals were highly resistant to levamisole Paper_evidence: WBPaper00033002
            Curator_confirmed: WBPerson2021
        Variation_effect: Probable_null_via_phenotype: Paper_evidence: WBPaper00033002
            Curator_confirmed: WBPerson2021
        Affected_by: Molecule: WBMol:00004019 Paper_evidence: WBPaper00033002
              Curator_confirmed: WBPerson2021
      WBPhenotype:0000847 Paper_evidence: WBPaper00033002
        Curator_confirmed: WBPerson2021
        Remark: Abnormal SNB-1::GFP puncta in the hlb-1(ok725) mutants, which appeared slightly diffused and more widely spaced than normal, along with a decrease in the number of puncta in both ventral and dorsal cords Paper_evidence: WBPaper00033002
            Curator_confirmed: WBPerson2021
        Variation_effect: Probable_null_via_phenotype: Paper_evidence: WBPaper00033002
            Curator_confirmed: WBPerson2021
        Phenotype_assay: Genotype: Punc-25-SNB-1::GFP (juIs1) Paper_evidence: WBPaper00033002
              Curator_confirmed: WBPerson2021
      WBPhenotype:0001005 Paper_evidence: WBPaper00033002
        Curator_confirmed: WBPerson2021
        Remark: Animals exhibit a mild backing phenotype Paper_evidence: WBPaper00033002
            Curator_confirmed: WBPerson2021
        Variation_effect: Probable_null_via_phenotype: Paper_evidence: WBPaper00033002
            Curator_confirmed: WBPerson2021
      WBPhenotype:0001321 Paper_evidence: WBPaper00033002
        Curator_confirmed: WBPerson2021
        Remark: The area of the presynaptic zone in hlb-1(ok725) was significantly enlarged compared to that in wild-type animals. Active zone morphology appears normal Paper_evidence: WBPaper00033002
            Curator_confirmed: WBPerson2021
        Variation_effect: Probable_null_via_phenotype: Paper_evidence: WBPaper00033002
            Curator_confirmed: WBPerson2021
        Phenotype_assay: Treatment: UNC-10 immunohistochemistry assay Paper_evidence: WBPaper00033002
              Curator_confirmed: WBPerson2021
      WBPhenotype:0001482 Paper_evidence: WBPaper00033002
        Curator_confirmed: WBPerson2021
        Remark: Reduced body bends per time interval Paper_evidence: WBPaper00033002
            Curator_confirmed: WBPerson2021
        Variation_effect: Probable_null_via_phenotype: Paper_evidence: WBPaper00033002
            Curator_confirmed: WBPerson2021
        EQ_annotations: Life_stage: WBls:0000024 PATO:0000460 Paper_evidence: WBPaper00033002
                Curator_confirmed: WBPerson2021
            WBls:0000041 PATO:0000460 Paper_evidence: WBPaper00033002
                Curator_confirmed: WBPerson2021
      WBPhenotype:0001685 Paper_evidence: WBPaper00033002
        Curator_confirmed: WBPerson2021
        Remark: In hlb-1(ok725) mutants, the puncta appeared enlarged, diffused, and spaced farther apart than normal. The area of the postsynaptic zone in hlb-1(ok725) was also significantly enlarged compared to that in wild-type animals Paper_evidence: WBPaper00033002
            Curator_confirmed: WBPerson2021
        Variation_effect: Probable_null_via_phenotype: Paper_evidence: WBPaper00033002
            Curator_confirmed: WBPerson2021
        Phenotype_assay: Genotype: oxIs22 (UNC-49::GFP) Paper_evidence: WBPaper00033002
              Curator_confirmed: WBPerson2021
    Phenotype_not_observed: WBPhenotype:0000114 Paper_evidence: WBPaper00033002
        Curator_confirmed: WBPerson2021
        Remark: RNA blot results indicated no difference in unc-10 or syd-2 mRNA levels between wild-type and hlb-1(ok725) animals Paper_evidence: WBPaper00033002
            Curator_confirmed: WBPerson2021
        Variation_effect: Probable_null_via_phenotype: Paper_evidence: WBPaper00033002
            Curator_confirmed: WBPerson2021
        Phenotype_assay: Treatment: RNA blot analysis Paper_evidence: WBPaper00033002
              Curator_confirmed: WBPerson2021
      WBPhenotype:0000478 Paper_evidence: WBPaper00033002
        Curator_confirmed: WBPerson2021
        Remark: No thermotaxis defects Paper_evidence: WBPaper00033002
            Curator_confirmed: WBPerson2021
        Variation_effect: Probable_null_via_phenotype: Paper_evidence: WBPaper00033002
            Curator_confirmed: WBPerson2021
      WBPhenotype:0000604 Paper_evidence: WBPaper00033002
        Curator_confirmed: WBPerson2021
        Remark: The GABA nervous system in hlb-1(ok725) adult animals was indistinguishable from that in wild-type Paper_evidence: WBPaper00033002
            Curator_confirmed: WBPerson2021
        Variation_effect: Probable_null_via_phenotype: Paper_evidence: WBPaper00033002
            Curator_confirmed: WBPerson2021
        EQ_annotations: Life_stage: WBls:0000041 PATO:0000460 Paper_evidence: WBPaper00033002
                Curator_confirmed: WBPerson2021
        Phenotype_assay: Genotype: oxIs12 Paper_evidence: WBPaper00033002
              Curator_confirmed: WBPerson2021
      WBPhenotype:0001084 Paper_evidence: WBPaper00033002
        Curator_confirmed: WBPerson2021
        Remark: hlb-1 mutants did not show obvious chemotaxis defects to NaCl Paper_evidence: WBPaper00033002
            Curator_confirmed: WBPerson2021
        Variation_effect: Probable_null_via_phenotype: Paper_evidence: WBPaper00033002
            Curator_confirmed: WBPerson2021
      WBPhenotype:0001224 Paper_evidence: WBPaper00033002
        Curator_confirmed: WBPerson2021
        Remark: Axons could extend along both the ventral and dorsal nerve cords of GABA nervous system and were stably maintained in hlb-1(ok725) adults Paper_evidence: WBPaper00033002
            Curator_confirmed: WBPerson2021
        Variation_effect: Probable_null_via_phenotype: Paper_evidence: WBPaper00033002
            Curator_confirmed: WBPerson2021
        EQ_annotations: Life_stage: WBls:0000041 PATO:0000460 Paper_evidence: WBPaper00033002
                Curator_confirmed: WBPerson2021
      WBPhenotype:0001323 Paper_evidence: WBPaper00033002
        Curator_confirmed: WBPerson2021
        Remark: No obvious changes in the expression of panneural vesicle marker synaptogyrin-GFP (jsIs219) were observed in hlb-1(ok725) mutants, compared to wild-type Paper_evidence: WBPaper00033002
            Curator_confirmed: WBPerson2021
        Variation_effect: Probable_null_via_phenotype: Paper_evidence: WBPaper00033002
            Curator_confirmed: WBPerson2021
        Phenotype_assay: Genotype: synaptogyrin-GFP (jsIs219) Paper_evidence: WBPaper00033002
              Curator_confirmed: WBPerson2021
      WBPhenotype:0001331 Paper_evidence: WBPaper00033002
        Curator_confirmed: WBPerson2021
        Remark: GABAergic inhibitory motor neurons appeared normal Paper_evidence: WBPaper00033002
            Curator_confirmed: WBPerson2021
        Variation_effect: Probable_null_via_phenotype: Paper_evidence: WBPaper00033002
            Curator_confirmed: WBPerson2021
      WBPhenotype:0001441 Paper_evidence: WBPaper00033002
        Curator_confirmed: WBPerson2021
        Remark: hlb-1 mutants did not show obvious chemotaxis defects to biotin Paper_evidence: WBPaper00033002
            Curator_confirmed: WBPerson2021
        Variation_effect: Probable_null_via_phenotype: Paper_evidence: WBPaper00033002
            Curator_confirmed: WBPerson2021
      WBPhenotype:0001526 Paper_evidence: WBPaper00033002
        Curator_confirmed: WBPerson2021
        Remark: In hlb-1(ok725) mutant animals, the axons of AFD sensory neurons terminated at the proper position, as observed in wild-type. The sensory ending of AFD neurons in hlb-1(ok725) mutant animals was also normal Paper_evidence: WBPaper00033002
            Curator_confirmed: WBPerson2021
        Variation_effect: Probable_null_via_phenotype: Paper_evidence: WBPaper00033002
            Curator_confirmed: WBPerson2021
      WBPhenotype:0001565 Paper_evidence: WBPaper00033002
        Curator_confirmed: WBPerson2021
        Remark: hlb-1 mutants did not show obvious chemotaxis defects to lysine Paper_evidence: WBPaper00033002
            Curator_confirmed: WBPerson2021
        Variation_effect: Probable_null_via_phenotype: Paper_evidence: WBPaper00033002
            Curator_confirmed: WBPerson2021
  Reference: WBPaper00033002
  Remark: Sequenced by the C. elegans Gene Knockout Consortium Paper_evidence: WBPaper00041807
  Method: KO_consortium_allele