Questions, Feedback & Help
Send us an email and we'll get back to you ASAP. Or you can read our Frequently Asked Questions.

WormBase Tree Display for Variation: WBVar00090319

expand all nodes | collapse all nodes | view schema

Name Class

WBVar00090319EvidencePaper_evidenceWBPaper00003948
NamePublic_namen1993
Other_nameC09G12.8b.1:c.569T>G
C09G12.8a.1:c.383T>G
CE16833:p.Val190Gly
CE16832:p.Val128Gly
HGVSgCHROMOSOME_IV:g.3507386A>C
Sequence_detailsSMapS_parentSequenceC09G12
Flanking_sequencescacaaagagccaaaaagagcaagtgtacgggctctaagatggggaaattggagcaaacaa
Mapping_targetC09G12
Type_of_mutationSubstitutiontg
SeqStatusSequenced
Variation_typeAllele
OriginSpeciesCaenorhabditis elegans
Strain (12)
LaboratoryMT
StatusLive
AffectsGeneWBGene00000424
TranscriptC09G12.8a.1 (12)
C09G12.8b.1 (12)
Interactor (30)
GeneticsInterpolated_map_positionIV-3.34561
Mapping_dataIn_multi_point1743
1744
1746
DescriptionPhenotypeWBPhenotype:0000188Paper_evidenceWBPaper00003948
Curator_confirmedWBPerson712
Remark>10% of gonadal arms were shorter than those of wild-type animals or were grossly disorganized (germ cells were dispersed inside the body cavity).Paper_evidenceWBPaper00003948
Curator_confirmedWBPerson712
PenetranceIncompletePaper_evidenceWBPaper00003948
Curator_confirmedWBPerson712
WBPhenotype:0000241Paper_evidenceWBPaper00032090
WBPaper00003948
Curator_confirmedWBPerson712
Variation_effectHypomorph_reduction_of_functionPaper_evidenceWBPaper00032090
Curator_confirmedWBPerson712
WBPhenotype:0000243Paper_evidenceWBPaper00050421
Person_evidenceWBPerson261
Curator_confirmedWBPerson712
WBPerson2987
Remarkdying cells arrest at highly refractile stage; killer cells fail to engulf target cells; engulfment group B (ced-2,5,10: suppress vulvaless phenotype of lin-24, lin-33); extensive maternal rescuePerson_evidenceWBPerson261
Curator_confirmedWBPerson712
persistent corpses in the pharynx of L1 (Supplemental Table 1)Paper_evidenceWBPaper00050421
Curator_confirmedWBPerson2987
Variation_effectPredicted_null_via_sequencePaper_evidenceWBPaper00050421
Curator_confirmedWBPerson2987
EQ_annotationsAnatomy_termWBbt:0003681PATO:0000460Paper_evidenceWBPaper00050421
Curator_confirmedWBPerson2987
Life_stageWBls:0000024PATO:0000460Paper_evidenceWBPaper00050421
Curator_confirmedWBPerson2987
MaternalWith_maternal_effectPerson_evidenceWBPerson261
Curator_confirmedWBPerson712
WBPhenotype:0000301Paper_evidenceWBPaper00003948
Curator_confirmedWBPerson712
RemarkDistal tip cells did not follow a typical path, resulting in gonad arms that exhibited inappropriate turns, twists, or positions with in the body cavity.Paper_evidenceWBPaper00003948
Curator_confirmedWBPerson712
PenetranceIncompletePaper_evidenceWBPaper00003948
Curator_confirmedWBPerson712
WBPhenotype:0000672Paper_evidenceWBPaper00041162
Curator_confirmedWBPerson10621
Remarkaffects AIY synaptic vesicle clusteringPaper_evidenceWBPaper00041162
Curator_confirmedWBPerson10621
EQ_annotationsAnatomy_termWBbt:0005413PATO:0000460Paper_evidenceWBPaper00041162
Curator_confirmedWBPerson10621
WBPhenotype:0000885Paper_evidenceWBPaper00001438
WBPaper00038317
Curator_confirmedWBPerson2021
WBPerson712
RemarkFailure to engulf cell corpsesPaper_evidenceWBPaper00001438
Curator_confirmedWBPerson2021
Persistent cell corpses accumulate.Paper_evidenceWBPaper00038317
Curator_confirmedWBPerson712
PenetranceCompletePaper_evidenceWBPaper00001438
Curator_confirmedWBPerson2021
RecessivePaper_evidenceWBPaper00001438
Curator_confirmedWBPerson2021
EQ_annotationsAnatomy_termWBbt:0005739PATO:0000460Paper_evidenceWBPaper00001438
Curator_confirmedWBPerson2021
WBbt:0003681PATO:0000460Paper_evidenceWBPaper00001438
Curator_confirmedWBPerson2021
WBbt:0005741PATO:0000460Paper_evidenceWBPaper00001438
Curator_confirmedWBPerson2021
WBbt:0005829PATO:0000460Paper_evidenceWBPaper00001438
Curator_confirmedWBPerson2021
WBbt:0003666PATO:0000460Paper_evidenceWBPaper00001438
Curator_confirmedWBPerson2021
Life_stageWBls:0000003PATO:0000460Paper_evidenceWBPaper00001438
Curator_confirmedWBPerson2021
WBls:0000024PATO:0000460Paper_evidenceWBPaper00001438
Curator_confirmedWBPerson2021
WBls:0000027PATO:0000460Paper_evidenceWBPaper00001438
Curator_confirmedWBPerson2021
WBls:0000037PATO:0000460Paper_evidenceWBPaper00001438
Curator_confirmedWBPerson2021
Maternal
WBPhenotype:0001346Paper_evidenceWBPaper00050421
Curator_confirmedWBPerson2987
Remark"In light-sheet videos, we did not detect YFP-ACT-5END around lobes as they initially embedded into endodermal cells. However, YFP-ACT-5END enriched transiently at the necks of PGC lobes (Fig. 4f) just prior to the visible separation of PGC lobes from the cell body (Fig. 4h; 15/15 lobes in 6 embryos). In light-sheet videos of ced-10 mutants, only 13% of lobe necks accumulated YFP-ACT-5END (3/23 lobes in 6 embryos; Fig. 4g); these lobes underwent scission and were digested by endodermal cells, whereas lobes that failed to accumulate actin always persisted (Fig. 4h). These findings suggest that ced-10-dependent actin accumulation around lobe necks promotes lobe scission."Paper_evidenceWBPaper00050421
Curator_confirmedWBPerson2987
Variation_effectHypomorph_reduction_of_functionPaper_evidenceWBPaper00050421
Curator_confirmedWBPerson2987
EQ_annotationsAnatomy_termWBbt:0004576PATO:0000460Paper_evidenceWBPaper00050421
Curator_confirmedWBPerson2987
WBbt:0004575PATO:0000460Paper_evidenceWBPaper00050421
Curator_confirmedWBPerson2987
Life_stageWBls:0000003PATO:0000460Paper_evidenceWBPaper00050421
Curator_confirmedWBPerson2987
Phenotype_assayGenotypexnEx326 [Pend-1::yfp::act-5, pRF4]; YFP-ACT-5END (YFP-tagged endodermally expressed ACT-5 (actin))Paper_evidenceWBPaper00050421
Curator_confirmedWBPerson2987
WBPhenotype:0002486Paper_evidenceWBPaper00050421
Curator_confirmedWBPerson2987
Remark"In viable ced-10(n1993) hypomorphic mutant embryos, lobes formed normally and embedded properly into endodermal cells (Fig. 4a,b). However, a subset of PGC lobes persisted in 100% of ced-10(n1993) L1 larvae (n = 115; Supplementary Table 1), and PGC debris within endodermal cells was greatly reduced (Fig. 4a,b,e). Many of the persistent lobes in ced-10(n1993) L1 larvae (96/104 lobes in 44 L1) maintained a thin membrane attachment to the PGC cell body (Fig. 4b',b''), and 100% of persistent lobes recovered from photobleaching (n = 19 larvae; Fig. 4c), indicating that ced-10 is required for lobe scission. Persistent lobes in ced-10(n1993) mutants were rescued by expressing ced-10(+) in endodermal cells (Fig. 4d and Supplementary Fig. 4c), and analysis of rare intra-endodermal mosaic embryos indicated that ced-10(+) activity is required within cells where lobe scission occurs (n = 11 L1 larvae; Supplementary Fig. 4a-b)."Paper_evidenceWBPaper00050421
Curator_confirmedWBPerson2987
Variation_effectHypomorph_reduction_of_functionPaper_evidenceWBPaper00050421
Curator_confirmedWBPerson2987
EQ_annotationsAnatomy_termWBbt:0004576PATO:0000460Paper_evidenceWBPaper00050421
Curator_confirmedWBPerson2987
WBbt:0004575PATO:0000460Paper_evidenceWBPaper00050421
Curator_confirmedWBPerson2987
Life_stageWBls:0000024PATO:0000460Paper_evidenceWBPaper00050421
Curator_confirmedWBPerson2987
Phenotype_assayTreatmentAll strains include the xnIs360 or xnSi1 transgenes to visualize PGC membranes.Paper_evidenceWBPaper00050421
Curator_confirmedWBPerson2987
Phenotype_not_observedWBPhenotype:0000180Paper_evidenceWBPaper00032090
Curator_confirmedWBPerson712
Remark0% axons were prematurely terminated and thickened (n>200).Paper_evidenceWBPaper00032090
Curator_confirmedWBPerson712
Variation_effectHypomorph_reduction_of_functionPaper_evidenceWBPaper00032090
Curator_confirmedWBPerson712
EQ_annotationsAnatomy_termWBbt:0006747PATO:0000460Paper_evidenceWBPaper00032090
Curator_confirmedWBPerson712
WBPhenotype:0000195Paper_evidenceWBPaper00046150
Curator_confirmedWBPerson557
Variation_effectHypomorph_reduction_of_functionPaper_evidenceWBPaper00046150
Curator_confirmedWBPerson557
WBPhenotype:0000384Paper_evidenceWBPaper00032090
Curator_confirmedWBPerson712
RemarkAnimals exhibited mild VD/DD axon guidance defects.Paper_evidenceWBPaper00032090
Curator_confirmedWBPerson712
EQ_annotationsAnatomy_termWBbt:0005270PATO:0000460Paper_evidenceWBPaper00032090
Curator_confirmedWBPerson712
WBbt:0005303PATO:0000460Paper_evidenceWBPaper00032090
Curator_confirmedWBPerson712
Phenotype_assayGenotypejuIs73Paper_evidenceWBPaper00032090
Curator_confirmedWBPerson712
WBPhenotype:0000436Paper_evidenceWBPaper00050421
Curator_confirmedWBPerson2987
Remark"Similar to actin, in light-sheet videos YFP-DYN-1END accumulation occurred shortly before lobe degradation commenced (6/6 embryos, 15/15 lobes; Fig. 6a). YFP-DYN-1END still accumulated at lobe necks in light-sheet videos of ced-10 mutants (6/6 embryos, 28/28 lobes; Fig. 6a), indicating that dynamin localization does not require lobe-neck actin."Paper_evidenceWBPaper00050421
Curator_confirmedWBPerson2987
"By contrast, YFP-LST-4END accumulated normally in ced-10 mutants (Fig. 6e)."Paper_evidenceWBPaper00050421
Curator_confirmedWBPerson2987
Variation_effectHypomorph_reduction_of_functionPaper_evidenceWBPaper00050421
Curator_confirmedWBPerson2987
EQ_annotationsAnatomy_termWBbt:0004576PATO:0000460Paper_evidenceWBPaper00050421
Curator_confirmedWBPerson2987
WBbt:0004575PATO:0000460Paper_evidenceWBPaper00050421
Curator_confirmedWBPerson2987
Life_stageWBls:0000003PATO:0000460Paper_evidenceWBPaper00050421
Curator_confirmedWBPerson2987
Phenotype_assayGenotypexnEx338 [Pend-1::yfp::dyn-1, pRF4]Paper_evidenceWBPaper00050421
Curator_confirmedWBPerson2987
xnEx452 [Pend-1::lst-4::yfp, pRF4]; LST-4-YFP-ENDPaper_evidenceWBPaper00050421
Curator_confirmedWBPerson2987
WBPhenotype:0000520Person_evidenceWBPerson261
Curator_confirmedWBPerson712
Remarkno gross phenotypePerson_evidenceWBPerson261
Curator_confirmedWBPerson712
MaternalWith_maternal_effectPerson_evidenceWBPerson261
Curator_confirmedWBPerson712
WBPhenotype:0000631Paper_evidenceWBPaper00035198
Curator_confirmedWBPerson712
RemarkAnimals do not exhibit anterior convulsions when treated with pentylenetetrazole(PTZ).Paper_evidenceWBPaper00035198
Curator_confirmedWBPerson712
Variation_effectProbable_null_via_phenotypePaper_evidenceWBPaper00035198
Curator_confirmedWBPerson712
Affected_byMoleculeWBMol:00004251Paper_evidenceWBPaper00035198
Curator_confirmedWBPerson712
WBPhenotype:0000633Paper_evidenceWBPaper00045955
Curator_confirmedWBPerson557
RemarkAnimals did not have PLM branch defects.Paper_evidenceWBPaper00045955
Curator_confirmedWBPerson557
WBPhenotype:0000905Paper_evidenceWBPaper00032090
Curator_confirmedWBPerson712
Remark0% cell bodies and axons displayed a spread morphology or ectopic lamellipodia/filopodia-like structure (n>200).Paper_evidenceWBPaper00032090
Curator_confirmedWBPerson712
Variation_effectHypomorph_reduction_of_functionPaper_evidenceWBPaper00032090
Curator_confirmedWBPerson712
EQ_annotationsAnatomy_termWBbt:0006747PATO:0000460Paper_evidenceWBPaper00032090
Curator_confirmedWBPerson712
WBPhenotype:0001656Paper_evidenceWBPaper00003948
Curator_confirmedWBPerson712
RemarkInitiating and maintaining a trajectory is normal.Paper_evidenceWBPaper00003948
Curator_confirmedWBPerson712
Reference (18)
MethodSubstitution_allele