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WormBase Tree Display for Variation: WBVar00090319

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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)
InteractorWBInteraction000006037
WBInteraction000006038
WBInteraction000006039
WBInteraction000006040
WBInteraction000006041
WBInteraction000006042
WBInteraction000006043
WBInteraction000006044
WBInteraction000009177
WBInteraction000009179
WBInteraction000050648
WBInteraction000050764
WBInteraction000052286
WBInteraction000052287
WBInteraction000052288
WBInteraction000052379
WBInteraction000501029
WBInteraction000517326
WBInteraction000517327
WBInteraction000517349
WBInteraction000517350
WBInteraction000518895
WBInteraction000519179
WBInteraction000519193
WBInteraction000520141
WBInteraction000521316
WBInteraction000521809
WBInteraction000521819
WBInteraction000524752
WBInteraction000557034
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