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WormBase Tree Display for Variation: WBVar00091303

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Name Class

WBVar00091303EvidencePerson_evidenceWBPerson499
NamePublic_namenp1
HGVSgCHROMOSOME_I:g.4569218_4570570delinsAGCGAAC
Sequence_detailsSMapS_parentSequenceD1007
Flanking_sequencesTAAACTACAGAAGTTCGCTTTTGGATACCACATTCACATCAGGACAACTGAAG
Mapping_targetD1007
Type_of_mutationInsertionAGTTCGCTAuthor_evidenceMara Andrione
Deletion
SeqStatusSequenced
Variation_typeAllele
OriginSpeciesCaenorhabditis elegans
StrainWBStrain00008608
LaboratoryIB
StatusLive
AffectsGeneWBGene00000440
TranscriptD1007.1.1VEP_consequencesplice_acceptor_variant,splice_donor_variant,coding_sequence_variant,5_prime_UTR_variant,intron_variant
VEP_impactHIGH
cDNA_position?-461
CDS_position?-458
Protein_position?-153
Intron_number2-3/4
Exon_number1-4/5
InteractorWBInteraction000500657
WBInteraction000536103
WBInteraction000536104
WBInteraction000536105
WBInteraction000536106
WBInteraction000536107
WBInteraction000536108
WBInteraction000536109
WBInteraction000536117
WBInteraction000536118
WBInteraction000536121
WBInteraction000536123
WBInteraction000536125
WBInteraction000536127
WBInteraction000536132
WBInteraction000536135
WBInteraction000536138
WBInteraction000536139
IsolationMutagenUV/TMP
GeneticsInterpolated_map_positionI-1.04587
Mapping_dataIn_multi_point4204
DescriptionPhenotypeWBPhenotype:0000134Paper_evidenceWBPaper00050371
Curator_confirmedWBPerson712
Remark"We evaluated the expression of ten CEH-17 eY1H targets in ceh-17(np1) mutant animals and found that it can both activate and repress gene expression: Four genes are reduced in expression and one is increased (Fig 3G)." Genes with decreased expression: brc-2, vps-39, lsy-13, piga-1.Paper_evidenceWBPaper00050371
Curator_confirmedWBPerson712
WBPhenotype:0000135Paper_evidenceWBPaper00050371
Curator_confirmedWBPerson712
Remark"We evaluated the expression of ten CEH-17 eY1H targets in ceh-17(np1) mutant animals and found that it can both activate and repress gene expression: Four genes are reduced in expression and one is increased (Fig 3G)." Gene with increased expression: srsx-24.Paper_evidenceWBPaper00050371
Curator_confirmedWBPerson712
WBPhenotype:0000795Paper_evidenceWBPaper00050847
Curator_confirmedWBPerson38423
Remark"reduced flipping behavior by about half (figure 3D)"Paper_evidenceWBPaper00050847
Curator_confirmedWBPerson38423
Variation_effectNullPaper_evidenceWBPaper00050847
Curator_confirmedWBPerson38423
Phenotype_assayStrainWBStrain00008608Paper_evidenceWBPaper00050847
Curator_confirmedWBPerson38423
Control_strainWBStrain00000001Paper_evidenceWBPaper00050847
Curator_confirmedWBPerson38423
WBPhenotype:0000880Paper_evidenceWBPaper00056066
Curator_confirmedWBPerson18979
RemarkALA axon undevelopedPaper_evidenceWBPaper00056066
Curator_confirmedWBPerson18979
PenetranceIncompletePaper_evidenceWBPaper00056066
Curator_confirmedWBPerson18979
RecessivePaper_evidenceWBPaper00056066
Curator_confirmedWBPerson18979
Variation_effectProbable_null_via_phenotypePaper_evidenceWBPaper00056066
Curator_confirmedWBPerson18979
EQ_annotationsAnatomy_termWBbt:0003955PATO:0000460Paper_evidenceWBPaper00056066
Curator_confirmedWBPerson18979
GO_termGO:0030424PATO:0001483Paper_evidenceWBPaper00056066
Curator_confirmedWBPerson18979
WBPhenotype:0000882Paper_evidenceWBPaper00056066
Curator_confirmedWBPerson18979
RemarkPVD 1° dendrite branch shortPaper_evidenceWBPaper00056066
Curator_confirmedWBPerson18979
PenetranceIncompletePaper_evidenceWBPaper00056066
Curator_confirmedWBPerson18979
RecessivePaper_evidenceWBPaper00056066
Curator_confirmedWBPerson18979
Variation_effectProbable_null_via_phenotypePaper_evidenceWBPaper00056066
Curator_confirmedWBPerson18979
EQ_annotationsAnatomy_termWBbt:0006831PATO:0000460Paper_evidenceWBPaper00056066
Curator_confirmedWBPerson18979
GO_termGO:0044307PATO:0000574Paper_evidenceWBPaper00056066
Curator_confirmedWBPerson18979
WBPhenotype:0001224Paper_evidenceWBPaper00036308
WBPaper00004283
Curator_confirmedWBPerson2987
WBPerson499
Remark"We then scored the extent of ALA axon migration and found that the ceh-10(rf) animals showed a ceh-17-like truncation of the ALA axons, albeit less severe (Fig 6B,C). While the ceh-17(lf) axon migration phenotype is similar when scored in either L1 or L2 stage animals, we found that a greater fraction of ceh-10(rf) ALA axons reach the tail by the L2 stage than at L1. This was surprising, as wild-type ALA axons complete their migration before hatching (Pujol et_al, 2000)."Paper_evidenceWBPaper00036308
Curator_confirmedWBPerson2987
The two ALA axons normally run along the lateral cord all the way to the tail (Fig. 3A), stopping beyond the anus in the adult. In the mutant, ALA was present and its axons initially followed their normal trajectory, but they stopped prematurely (Fig. 3B). This stalling phenotype was highly penetrant (Fig. 3D), with 100% of ALA axons shorter than in wild type and 76% stopping close to the gonad primordium, between the DA4 and DA6 motor neuronal commissures. In a few cases (5%), the axons not only stopped before the gonad but then backtracked along the lateral cord (Fig. 3C).Paper_evidenceWBPaper00004283
Curator_confirmedWBPerson499
In a mutant ceh-17 background, a dramatic shortening was observed, with more than 60% of SIA axons stopping next to the gonad primordium (Fig. 3E). In addition, some of the axons grew anteriorly to the nerve ring, which was never observed in wildtype worms (data not shown).Paper_evidenceWBPaper00004283
Curator_confirmedWBPerson499
EQ_annotationsAnatomy_termWBbt:0003955PATO:0000460Paper_evidenceWBPaper00036308
WBPaper00004283
Curator_confirmedWBPerson2987
WBPerson499
WBbt:0005361PATO:0000460Paper_evidenceWBPaper00004283
Curator_confirmedWBPerson499
GO_termGO:0030424PATO:0000460Paper_evidenceWBPaper00004283
Curator_confirmedWBPerson499
PATO:0002364Paper_evidenceWBPaper00004283
Curator_confirmedWBPerson499
Phenotype_assayGenotypeunc-53:GFPPaper_evidenceWBPaper00036308
Curator_confirmedWBPerson2987
WBPhenotype:0001278Paper_evidenceWBPaper00036308
Curator_confirmedWBPerson2987
Remark"In wild type, a let-23:LET-23-GFP translational reporter is expressed in several non-neuronal cells and a small number of neurons, including ALA (Van Buskirk and Sternberg, 2007). We examined the expression of this reporter in ceh-17(np1) null mutant animals and found its expression to be severely decreased in ALA, with other sites of expression intact (Fig 1A, Table 2)."Paper_evidenceWBPaper00036308
Curator_confirmedWBPerson2987
"Phospholipase C-γ (PLC-γ, encoded by plc-3), a direct target of activated EGFR, is required for ALA-dependent sleep (Van Buskirk and Sternberg, 2007). We examined the expression of a PLC-γ transcriptional reporter that is normally expressed in ALA at all stages and detectable in a small number of other neurons (S. Xu, personal communication). We found plc-3 expression to be specifically disrupted in ALA in the ceh-17(np1) animals (Fig 1A,B)." (see also Table 2)Paper_evidenceWBPaper00036308
Curator_confirmedWBPerson2987
The ceh-17(np1) null mutant exhibits decreased expression of the ver-3::GFP transgene in the ALA neuron (Table 2)Paper_evidenceWBPaper00036308
Curator_confirmedWBPerson2987
The ceh-17(np1) null mutant exhibits decreased expression of the ida-1::GFP transgene in the ALA neuron (Table 2, Figure 3)Paper_evidenceWBPaper00036308
Curator_confirmedWBPerson2987
The ceh-17(np1) null mutant exhibits decreased expression of the flp-7::GFP transgene in the ALA neuron (Table 2, Figure 3)Paper_evidenceWBPaper00036308
Curator_confirmedWBPerson2987
"We analyzed the expression of a GFP reporter driven by this same ceh-14 promoter fragment (ceh-14:GFP; kindly provided by I. Hope), and found that its expression was specifically decreased in ALA in the ceh-17(np1) mutant (Fig 2A). The defect could not be detected by eye, but quantification of fluorescence revealed a significant decrease in ALA-specific expression across larval stages."Paper_evidenceWBPaper00036308
Curator_confirmedWBPerson2987
"In ceh-17(np1) mutants, ceh-17:GFP expression in ALA becomes compromised as development proceeds (Fig 2D). This temporal profile argues against cross-regulatory interactions with CEH-14 being the predominant contributor to the observed CEH-17 autoregulation, as the cross-regulatory effects are consistent across larval stages (Fig 2A,B)."Paper_evidenceWBPaper00036308
Curator_confirmedWBPerson2987
"We analyzed the expression of des-2:GFP in the ALA neuron of ceh-14 and ceh-17 null mutant animals and found that at the L1 stage, reporter expression is dependent on CEH-14 but not on CEH-17 (Fig 4B), consistent with our observed genetic results with deg-3(gf). At the L4 stage, however, deg-3 expression is dependent on both factors (Fig 4B,C), revealing different temporal requirements for CEH-17 and CEH-14 in deg-3 expression."Paper_evidenceWBPaper00036308
Curator_confirmedWBPerson2987
EQ_annotationsAnatomy_termWBbt:0003955PATO:0000460Paper_evidenceWBPaper00036308
Curator_confirmedWBPerson2987
Phenotype_assayGenotypelet-23:LET-23-GFPPaper_evidenceWBPaper00036308
Curator_confirmedWBPerson2987
plc-3::YFPPaper_evidenceWBPaper00036308
Curator_confirmedWBPerson2987
ver-3::GFPPaper_evidenceWBPaper00036308
Curator_confirmedWBPerson2987
ida-1::GFPPaper_evidenceWBPaper00036308
Curator_confirmedWBPerson2987
flp-7::GFPPaper_evidenceWBPaper00036308
Curator_confirmedWBPerson2987
ceh-14::GFPPaper_evidenceWBPaper00036308
Curator_confirmedWBPerson2987
ceh-17::GFPPaper_evidenceWBPaper00036308
Curator_confirmedWBPerson2987
des-2:GFPPaper_evidenceWBPaper00036308
Curator_confirmedWBPerson2987
WBPhenotype:0001524Paper_evidenceWBPaper00036308
Curator_confirmedWBPerson2987
Remark100% of ceh-17(np1) animals were resistant to EGF-induced sleep (Table 1); "We found that similar to ceh-17 animals, the ALA neuron is present and its cell body is positioned normally (Fig 1A, DIC images) but the ceh-14(ch3) null mutant animals are completely resistant to the behavioral effects of EGF expression (Table 1)... Our observation that CEH-17 is dispensable for deg-3 expression early in development led us to examine whether this might be true for multiple CEH-17 targets. If so, the ceh-17 null mutation might confer a lower level of EGF-resistance during early larval stages than in adults. We therefore assayed L2 stage animals for EGFinduced sleep, and found that, in contrast to ceh-14 mutants, the EGF-resistance of ceh-17 mutants is significantly lower at the L2 stage than in adults (Table 3)."Paper_evidenceWBPaper00036308
Curator_confirmedWBPerson2987
PenetranceComplete100Paper_evidenceWBPaper00036308
Curator_confirmedWBPerson2987
Phenotype_assayTreatmentAnimals carrying the hs:LIN-3 transgene were well fed and grown at 20C. Young adult animals were scored 2 hours after heat shock for EGF-induced sleep behavior (see Materials and methods).Paper_evidenceWBPaper00036308
Curator_confirmedWBPerson2987
Genotypehs:LIN-3Paper_evidenceWBPaper00036308
Curator_confirmedWBPerson2987
WBPhenotype:0002432Paper_evidenceWBPaper00057148
WBPaper00059734
Curator_confirmedWBPerson712
RemarkReduction of ALA neuron function impairs all forms of SIS.Paper_evidenceWBPaper00059734
Curator_confirmedWBPerson712
EQ_annotationsAnatomy_termWBbt:0003955PATO:0000460Paper_evidenceWBPaper00059734
Curator_confirmedWBPerson712
WBPhenotype:0002433Paper_evidenceWBPaper00050011
Curator_confirmedWBPerson712
RemarkResistance to pumping quiescence after heatshock in flp-13 mutants was much weaker than the negative controls, ceh-14 and ceh-17, suggesting that flp-13 is not the only neuropeptide necessary for pumping quiescence during stress-induced sleep (flp-13: 79% 3% pumping quiescent compared to ceh-14: 0% 0% and compared to ceh-17: 5% 3%; p < 0.001; Figure 2A). The ceh-14 and ceh-17 mutants, previously shown to bestrongly resistant to heat shock [7, 14], displayed locomotionquiescence after heat shock (ceh-14: 0% 0% locomotionquiescent before heat shock compared to ceh-14: 36% 4%locomotion quiescent after heat shock; ceh-17: 0% 0% locomotionquiescent before heat shock compared to ceh-17:56% 5% locomotion quiescent after heat shock; p < 0.01;Figure 2B).Paper_evidenceWBPaper00050011
Curator_confirmedWBPerson712
WBPhenotype:0002490Paper_evidenceWBPaper00004283
Curator_confirmedWBPerson499
RemarkIn a mutant ceh-17 background, a dramatic shortening was observed, with more than 60% of SIA axons stopping next to the gonad primordium (Fig. 3E). In addition, some of the axons grew anteriorly to the nerve ring, which was never observed in wildtype worms (data not shown).Paper_evidenceWBPaper00004283
Curator_confirmedWBPerson499
EQ_annotationsAnatomy_termWBbt:0005361PATO:0000460Paper_evidenceWBPaper00004283
Curator_confirmedWBPerson499
GO_termGO:0030424PATO:0000628Paper_evidenceWBPaper00004283
Curator_confirmedWBPerson499
Phenotype_not_observedWBPhenotype:0000306Paper_evidenceWBPaper00036308
Curator_confirmedWBPerson2987
RemarkThe ceh-17(np1) null mutant exhibits no change in expression of the unc-119::YFP transgene in the ALA neuron (Table 2)Paper_evidenceWBPaper00036308
Curator_confirmedWBPerson2987
The ceh-17(np1) null mutant exhibits no change in expression of the rab-3::GFP transgene in the ALA neuron (Table 2)Paper_evidenceWBPaper00036308
Curator_confirmedWBPerson2987
"To determine whether CEH-10 and CEH-14 also play roles in ALA axon migration, we examined unc-53:GFP (pNP21; N. Pujol), which labels several neurons including ALA and the DA neurons of the ventral cord that extend commissural axons, marking body length (Stringham et al., 2002). In wild-type animals this reporter labels the ALA axons during the L1-L2 stages. We first examined unc-53:GFP in ALA in ceh-17(null) and ceh-10(rf) L1-L2 animals and found that expression of the reporter was not detectably impaired (Fig 6A)."Paper_evidenceWBPaper00036308
Curator_confirmedWBPerson2987
EQ_annotationsAnatomy_termWBbt:0003955PATO:0000460Paper_evidenceWBPaper00036308
Curator_confirmedWBPerson2987
Phenotype_assayGenotypeunc-119::YFPPaper_evidenceWBPaper00036308
Curator_confirmedWBPerson2987
rab-3::GFPPaper_evidenceWBPaper00036308
Curator_confirmedWBPerson2987
unc-53:GFPPaper_evidenceWBPaper00036308
Curator_confirmedWBPerson2987
WBPhenotype:0000424Paper_evidenceWBPaper00004283
Curator_confirmedWBPerson499
Remarka FRMFamide-like reactivity is normally detected in ALA (Schinkmann and Li, 1992) and the vesicular acetylcholine transporter (VAChT) encoded by unc-17 (Alfonso et al., 1993) is expressed in SIAs (J. Duerr, personal communication). Expression of these markers was unaffected in ceh-17 mutants (see Materials and Methods and data not shown).Paper_evidenceWBPaper00004283
Curator_confirmedWBPerson499
EQ_annotationsAnatomy_termWBbt:0003955PATO:0000460Paper_evidenceWBPaper00004283
Curator_confirmedWBPerson499
WBbt:0005361PATO:0000460Paper_evidenceWBPaper00004283
Curator_confirmedWBPerson499
WBPhenotype:0001310Paper_evidenceWBPaper00036308
Curator_confirmedWBPerson2987
Remark"We found that similar to ceh-17 animals, the ALA neuron is present and its cell body is positioned normally (Fig 1A, DIC images) but the ceh-14(ch3) null mutant animals are completely resistant to the behavioral effects of EGF expression (Table 1)."Paper_evidenceWBPaper00036308
Curator_confirmedWBPerson2987
EQ_annotationsAnatomy_termWBbt:0003955PATO:0000460Paper_evidenceWBPaper00036308
Curator_confirmedWBPerson2987
WBPhenotype:0001765Paper_evidenceWBPaper00031936
Curator_confirmedWBPerson2021
RemarkMutants respond normally to CO2Paper_evidenceWBPaper00031936
Curator_confirmedWBPerson2021
EQ_annotationsLife_stageWBls:0000057PATO:0000460Paper_evidenceWBPaper00031936
Curator_confirmedWBPerson2021
Phenotype_assayTreatment10% CO2Paper_evidenceWBPaper00031936
Curator_confirmedWBPerson2021
ReferenceWBPaper00031936
WBPaper00004283
WBPaper00036308
WBPaper00050011
WBPaper00050371
WBPaper00050847
WBPaper00056066
WBPaper00057148
WBPaper00059734
WBPaper00064927
RemarkUpdated the context of this variation to reflect a reported Insertion of 8bp at the deletion site in the ZIM lab isolate.Author_evidenceMara Andrione
Curator_confirmedWBPerson1983
MethodDeletion_and_insertion_allele