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WormBase Tree Display for Variation: WBVar00092456

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Name Class

WBVar00092456NamePublic_nameok1201
Other_nameCE39149:p.Ile332ValfsTer27
F27E11.3.1:c.992_1572del
HGVSgCHROMOSOME_V:g.3442059_3443232del
Sequence_detailsSMapS_parentSequenceF27E11
Flanking_sequencescaaacagcaaatagcatttttccacgacgacccaccaaaccgaggcagccattccgaaga
Mapping_targetF27E11
Type_of_mutationDeletion
PCR_productOK1201_external
OK1201_internal
SeqStatusSequenced
Variation_typeAllele
OriginSpeciesCaenorhabditis elegans
StrainWBStrain00008500
WBStrain00008502
WBStrain00008506
WBStrain00031864
LaboratoryRB
PersonWBPerson46
KO_consortium_allele
StatusLive
AffectsGeneWBGene00000478
TranscriptF27E11.3.1 (11)
Interactor (15)
IsolationMutagenUV/TMP
GeneticsMapping_dataIn_multi_point4924
DescriptionPhenotypeWBPhenotype:0000232Paper_evidenceWBPaper00026706
Curator_confirmedWBPerson2987
Remark"Similarly, minor defects in CAN and HSN migration are seen in cfz-2(ok1201) mutants (Fig. 5, Table 1)."Paper_evidenceWBPaper00026706
Curator_confirmedWBPerson2987
PenetranceLowPaper_evidenceWBPaper00026706
Curator_confirmedWBPerson2987
RecessivePaper_evidenceWBPaper00026706
Curator_confirmedWBPerson2987
Variation_effectPredicted_hypomorph_via_sequencePaper_evidenceWBPaper00026706
Curator_confirmedWBPerson2987
EQ_annotationsAnatomy_termWBbt:0006827PATO:0000460Paper_evidenceWBPaper00026706
Curator_confirmedWBPerson2987
GO_termGO:0016477PATO:0000460Paper_evidenceWBPaper00026706
Curator_confirmedWBPerson2987
Phenotype_assayTreatment"A CAN was scored as anteriorly misplaced (Ant.) if its nucleus was anterior to the V3 nucleus and posteriorly misplaced (Post.) if posterior to the V4 nucleus."Paper_evidenceWBPaper00026706
Curator_confirmedWBPerson2987
Genotypekal-1::gfpPaper_evidenceWBPaper00026706
Curator_confirmedWBPerson2987
WBPhenotype:0000384Paper_evidenceWBPaper00035405
Curator_confirmedWBPerson2021
RemarkSIA and SIB neurons had guidance errors at multiple positions (mild defects)Paper_evidenceWBPaper00035405
Curator_confirmedWBPerson2021
WBPhenotype:0000469Paper_evidenceWBPaper00026706
Curator_confirmedWBPerson2987
Remark"QL and its descendants migrate posteriorly whereas QR and its descendants migrate anteriorly (Fig. 1; Sulston and Horvitz, 1977). In cfz-2 mutants, the migrations of QR descendants terminated posterior to their normal position 11.8% of the time (Fig. 4, Table 1). QL descendant migration in cfz-2 mutants is indistinguishable from wild type (Table 1)."Paper_evidenceWBPaper00026706
Curator_confirmedWBPerson2987
PenetranceIncomplete12Paper_evidenceWBPaper00026706
Curator_confirmedWBPerson2987
EQ_annotationsAnatomy_termWBbt:0004991PATO:0000460Paper_evidenceWBPaper00026706
Curator_confirmedWBPerson2987
WBbt:0003832PATO:0000460Paper_evidenceWBPaper00026706
Curator_confirmedWBPerson2987
GO_termGO:0016477PATO:0000460Paper_evidenceWBPaper00026706
Curator_confirmedWBPerson2987
Phenotype_assayTreatment"A QR cell descendant was scored as defective if its nucleus was posterior to the V2.a nucleus. Because they occupy positions near each other, the data for SDQR and AVM were combined. The position of AQR, a third QR descendant, was not included because it migrates to a location near other nuclei with similar morphology."Paper_evidenceWBPaper00026706
Curator_confirmedWBPerson2987
WBPhenotype:0000470Paper_evidenceWBPaper00026706
Curator_confirmedWBPerson2987
Remark"Similarly, minor defects in CAN and HSN migration are seen in cfz-2(ok1201) mutants (Fig. 5, Table 1)."Paper_evidenceWBPaper00026706
Curator_confirmedWBPerson2987
PenetranceLowPaper_evidenceWBPaper00026706
Curator_confirmedWBPerson2987
RecessivePaper_evidenceWBPaper00026706
Curator_confirmedWBPerson2987
Variation_effectPredicted_hypomorph_via_sequencePaper_evidenceWBPaper00026706
Curator_confirmedWBPerson2987
EQ_annotationsAnatomy_termWBbt:0006830PATO:0000460Paper_evidenceWBPaper00026706
Curator_confirmedWBPerson2987
GO_termGO:0016477PATO:0000460Paper_evidenceWBPaper00026706
Curator_confirmedWBPerson2987
Phenotype_assayTreatment"An HSN was scored as defective if its nucleus was posterior to the V4 nucleus."Paper_evidenceWBPaper00026706
Curator_confirmedWBPerson2987
Genotypekal-1::gfpPaper_evidenceWBPaper00026706
Curator_confirmedWBPerson2987
WBPhenotype:0000471Paper_evidenceWBPaper00026706
Curator_confirmedWBPerson2987
RemarkThe ALM cells migrate posteriorly during embryogenesis to occupy a range of final positions between the two hypodermal cells, V2 and V3 (Figs. 1 and 3) (Sulston et al., 1983). In cfz-2(ok1201) mutants, 20% of ALM cells are located anterior to V2 (Fig. 3, Table 1). "By analogy to other mutations in Frizzleds as well as other serpentine receptors, both cfz-2 mutations are predicted to reduce or eliminate gene function (Chen et al., 2004; Heymann and Subramaniam, 1997; Ray et al., 1997; Sawa et al., 1996; Unson et al., 1995). Consistent with this, both mutations are recessive."Paper_evidenceWBPaper00026706
Curator_confirmedWBPerson2987
PenetranceIncomplete20Paper_evidenceWBPaper00026706
Curator_confirmedWBPerson2987
RecessivePaper_evidenceWBPaper00026706
Curator_confirmedWBPerson2987
Variation_effectPredicted_hypomorph_via_sequencePaper_evidenceWBPaper00026706
Curator_confirmedWBPerson2987
EQ_annotationsAnatomy_termWBbt:0005406PATO:0000460Paper_evidenceWBPaper00026706
Curator_confirmedWBPerson2987
GO_termGO:0016477PATO:0000460Paper_evidenceWBPaper00026706
Curator_confirmedWBPerson2987
Phenotype_assayTreatment"An ALM was scored as anteriorly misplaced (Ant.) if its nucleus was anterior to the V2 nucleus and posteriorly misplaced (Post.) if posterior to the V3 nucleus."Paper_evidenceWBPaper00026706
Curator_confirmedWBPerson2987
WBPhenotype:0000625Paper_evidenceWBPaper00064204
Curator_confirmedWBPerson7196
WBPhenotype:0000883Paper_evidenceWBPaper00035405
Curator_confirmedWBPerson2021
Remarkcfz-2 mutants had substantial anterior nerve ring defectsPaper_evidenceWBPaper00035405
Curator_confirmedWBPerson2021
WBPhenotype:0001761Paper_evidenceWBPaper00026706
Curator_confirmedWBPerson2987
Remark"More penetrant was a misrouting defect, where approximately 24% of HSN axons inappropriately crossed the ventral midline to extend anteriorly on the contralateral side (Fig. 6, Table 2)."Paper_evidenceWBPaper00026706
Curator_confirmedWBPerson2987
PenetranceIncomplete26Paper_evidenceWBPaper00026706
Curator_confirmedWBPerson2987
EQ_annotationsAnatomy_termWBbt:0006830PATO:0000460Paper_evidenceWBPaper00026706
Curator_confirmedWBPerson2987
GO_termGO:0007409PATO:0000460Paper_evidenceWBPaper00026706
Curator_confirmedWBPerson2987
Phenotype_assayTreatment"Axon morphology was examined by indirect immunofluorescence using anti-serotonin antibody (HSN and CP) or two independent GFP-expressing reporter transgenes, ceh-23::gfp and kal-1::gfp (CAN)."Paper_evidenceWBPaper00026706
Curator_confirmedWBPerson2987
WBPhenotype:0002490Paper_evidenceWBPaper00026706
Curator_confirmedWBPerson2987
Remark"In cfz-2 mutants, approximately 8% of HSNs extended a second axon, generally from the posterior side (Table 2). The ectopic axons sometimes appeared to merge with the primary axons, after which they entered the VNC (Fig. 6, Table 2)."Paper_evidenceWBPaper00026706
Curator_confirmedWBPerson2987
PenetranceLow8Paper_evidenceWBPaper00026706
Curator_confirmedWBPerson2987
EQ_annotationsAnatomy_termWBbt:0006830PATO:0000460Paper_evidenceWBPaper00026706
Curator_confirmedWBPerson2987
GO_termGO:0007409PATO:0000460Paper_evidenceWBPaper00026706
Curator_confirmedWBPerson2987
Phenotype_assayTreatment"Axon morphology was examined by indirect immunofluorescence using anti-serotonin antibody (HSN and CP) or two independent GFP-expressing reporter transgenes, ceh-23::gfp and kal-1::gfp (CAN)."Paper_evidenceWBPaper00026706
Curator_confirmedWBPerson2987
Phenotype_not_observedWBPhenotype:0000104Paper_evidenceWBPaper00044679
Curator_confirmedWBPerson2987
RemarkThe cfz-2(ok1201) mutation does not affect anteroposterior polarity in the AVG interneuronPaper_evidenceWBPaper00044679
Curator_confirmedWBPerson2987
EQ_annotationsAnatomy_termWBbt:0003850PATO:0000460Paper_evidenceWBPaper00044679
Curator_confirmedWBPerson2987
WBPhenotype:0000469Paper_evidenceWBPaper00026706
Curator_confirmedWBPerson2987
Remark"QL and its descendants migrate posteriorly whereas QR and its descendants migrate anteriorly (Fig. 1; Sulston and Horvitz, 1977). In cfz-2 mutants, the migrations of QR descendants terminated posterior to their normal position 11.8% of the time (Fig. 4, Table 1). QL descendant migration in cfz-2 mutants is indistinguishable from wild type (Table 1)."Paper_evidenceWBPaper00026706
Curator_confirmedWBPerson2987
EQ_annotationsAnatomy_termWBbt:0004993PATO:0000460Paper_evidenceWBPaper00026706
Curator_confirmedWBPerson2987
WBbt:0004086PATO:0000460Paper_evidenceWBPaper00026706
Curator_confirmedWBPerson2987
GO_termGO:0016477PATO:0000460Paper_evidenceWBPaper00026706
Curator_confirmedWBPerson2987
Phenotype_assayTreatment"A QL cell descendant was scored as misplaced anteriorly if its nucleus was anterior to V4.p. Because they occupy positions near each other, the data for SDQL and PVM were combined. The position of PQR, a third QL descendant, was not included because it migrates to a location near other nuclei with similar morphology."Paper_evidenceWBPaper00026706
Curator_confirmedWBPerson2987
WBPhenotype:0000594Paper_evidenceWBPaper00026706
Curator_confirmedWBPerson2987
RemarkTable 1Paper_evidenceWBPaper00026706
Curator_confirmedWBPerson2987
EQ_annotationsAnatomy_termWBbt:0006826PATO:0000460Paper_evidenceWBPaper00026706
Curator_confirmedWBPerson2987
GO_termGO:0016477PATO:0000460Paper_evidenceWBPaper00026706
Curator_confirmedWBPerson2987
Phenotype_assayTreatment"A BDU was scored as defective if its nucleus was posterior to the V1 nucleus."Paper_evidenceWBPaper00026706
Curator_confirmedWBPerson2987
WBPhenotype:0001012Paper_evidenceWBPaper00032196
Curator_confirmedWBPerson712
RemarkAnimals were as susceptible to infection by P. aeruginosa as N2 animals.Paper_evidenceWBPaper00032196
Curator_confirmedWBPerson712
Phenotype_assayStrainWBStrain00031864Paper_evidenceWBPaper00032196
Curator_confirmedWBPerson712
WBPhenotype:0001224Paper_evidenceWBPaper00060654
Curator_confirmedWBPerson712
RemarkThere are six Wnt receptors encoded in the C. elegans genome: four Frizzled receptors (LIN-17, CFZ-2, MIG-1 and MOM-5,), one Ror receptor (CAM-1) and one Ryk receptor (LIN-18) (Sawa and Korswagen, 2013). We analyzed the effect of loss-of-function mutations for each receptor and found that loss of cam-1, but not the other receptors, caused defective SMDD axonal development (Figure 1D).Paper_evidenceWBPaper00060654
Curator_confirmedWBPerson712
EQ_annotationsAnatomy_termWBbt:0004972PATO:0000460Paper_evidenceWBPaper00060654
Curator_confirmedWBPerson712
WBbt:0004971PATO:0000460Paper_evidenceWBPaper00060654
Curator_confirmedWBPerson712
ReferenceWBPaper00032196
WBPaper00035405
WBPaper00026706
WBPaper00044679
WBPaper00060654
WBPaper00064204
RemarkSequenced by the C. elegans Gene Knockout ConsortiumPaper_evidenceWBPaper00041807
MethodKO_consortium_allele