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WormBase Tree Display for Variation: WBVar00143044

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Name Class

WBVar00143044EvidencePaper_evidenceWBPaper00006063
WBPaper00005177
NamePublic_namee224
Other_nameF46E10.9.1:c.227G>A
F46E10.9.2:c.227G>A
CE20819:p.Gly76Glu
HGVSgCHROMOSOME_V:g.6512793C>T
Sequence_detailsSMapS_parentSequenceF46E10
Flanking_sequencesactggtctgatgatcttggaatcaaggttgagaagtcgatgttaccgtcaatccaggact
Mapping_targetF46E10
Type_of_mutationSubstitutionga
SeqStatusSequenced
Variation_typeAllele
OriginSpeciesCaenorhabditis elegans
Strain (130)
LaboratoryCB
StatusLive
AffectsGeneWBGene00001073
TranscriptF46E10.9.2 (12)
F46E10.9.1 (12)
Interactor (14)
GeneticsInterpolated_map_positionV-0.00724445
Mapping_dataIn_2_point (85)
In_multi_point (181)
In_pos_neg_data (12)
DescriptionPhenotypeWBPhenotype:0000070Paper_evidenceWBPaper00005747
Curator_confirmedWBPerson2987
RemarkTable 1; "The point-mutant dpy-11(e224) results in a partial-loss-of-function mutation, characterized by a medium Dpy phenotype and additional male tail-specific morphologic defects."Paper_evidenceWBPaper00005747
Curator_confirmedWBPerson2987
Phenotype_assayGenotypekaIs12 [col-19::gfp]Paper_evidenceWBPaper00005747
Curator_confirmedWBPerson2987
WBPhenotype:0000199Paper_evidenceWBPaper00001328
Curator_confirmedWBPerson712
RemarkThe temperature sensitive period for the Ram defect was mid-to late L4 coincident with tail retraction.Paper_evidenceWBPaper00001328
Curator_confirmedWBPerson712
EQ_annotationsAnatomy_termWBbt:0006941PATO:0000460Paper_evidenceWBPaper00001328
Curator_confirmedWBPerson712
WBbt:0005741PATO:0000460Paper_evidenceWBPaper00001328
Curator_confirmedWBPerson712
Life_stageWBls:0000073PATO:0000460Paper_evidenceWBPaper00001328
Curator_confirmedWBPerson712
Temperature_sensitiveHeat_sensitive25Paper_evidenceWBPaper00001328
Curator_confirmedWBPerson712
Phenotype_assayTemperature25CPaper_evidenceWBPaper00001328
Curator_confirmedWBPerson712
Genotypehim-5(e1490)Paper_evidenceWBPaper00001328
Curator_confirmedWBPerson712
WBPhenotype:0000231Paper_evidenceWBPaper00001328
Curator_confirmedWBPerson712
Phenotype_assayTemperature20CPaper_evidenceWBPaper00001328
Curator_confirmedWBPerson712
Genotypehim-5(e1490)Paper_evidenceWBPaper00001328
Curator_confirmedWBPerson712
WBPhenotype:0000424Paper_evidenceWBPaper00005747
Curator_confirmedWBPerson2987
Remark"TP12:kaIs(col-19::gfp) and CB224(dpy-11) nematodes were crossed to produce the strain TP16:dpy-11(e224)V;kaIs12(col-19::gfp) that exhibited irregular COL-19::GFP patterns similar but not identical to that of TP14:dpy-5(e61)I;kaIs12(col-19 ::gfp) in which annuli in the dorsal/ ventral hypodermally derived cuticle appeared as a regular, although slightly constricted pattern of bands, again consistent with the Dpy appearance (Fig. 3G,H, denoted an). Similar to dpy-5 mutants, in these dpy-11 mutant animals COL-19::GFP expression in the cuticle overlying the noncontracted seam cell cords was abnormal with annuli appearing branched, prematurely terminated, and occasionally absent, a pattern reflected in the fragmented and branched DPY-7 collagen pattern after antibody staining (Fig. 3H, doubleheaded arrow region)."Paper_evidenceWBPaper00005747
Curator_confirmedWBPerson2987
Phenotype_assayGenotypekaIs12 [col-19::gfp]Paper_evidenceWBPaper00005747
Curator_confirmedWBPerson2987
WBPhenotype:0000505Paper_evidenceWBPaper00001328
Person_evidenceWBPerson261
Curator_confirmedWBPerson712
RemarkHomozygous Ram. Males are not Ram at 16C.Paper_evidenceWBPaper00001328
Curator_confirmedWBPerson712
Males Ram (lumpy rays) at 25C.Person_evidenceWBPerson261
Curator_confirmedWBPerson712
EQ_annotationsAnatomy_termWBbt:0006941PATO:0000460Paper_evidenceWBPaper00001328
Curator_confirmedWBPerson712
Life_stageWBls:0000056PATO:0000460Paper_evidenceWBPaper00001328
Curator_confirmedWBPerson712
Temperature_sensitiveHeat_sensitive25Paper_evidenceWBPaper00001328
Person_evidenceWBPerson261
Curator_confirmedWBPerson712
Phenotype_assayTemperature25CPaper_evidenceWBPaper00001328
Curator_confirmedWBPerson712
Genotypehim-5(e1490)Paper_evidenceWBPaper00001328
Curator_confirmedWBPerson712
WBPhenotype:0000583Paper_evidenceWBPaper00000465
WBPaper00001474
WBPaper00005747
Person_evidenceWBPerson261
Curator_confirmedWBPerson712
WBPerson2987
Remarkmedium dumpy, easy to score (ES3) in adult, difficult to score (ES2) in larvae. Males Ram (lumpy rays) at25C.Person_evidenceWBPerson261
Curator_confirmedWBPerson712
Authors report "medium dpy" (Table 1); "The point-mutant dpy-11(e224) results in a partial-loss-of-function mutation, characterized by a medium Dpy phenotype and additional male tail-specific morphologic defects... When examined at the SEM level, dpy-11(e224) nematodes were particularly Dpy at the mid-body and tail regions and the alae are bifurcated and branched (Fig. 3F, denoted by double-headed arrows)."Paper_evidenceWBPaper00005747
Curator_confirmedWBPerson2987
Phenotype_assayGenotypekaIs12 [col-19::gfp]Paper_evidenceWBPaper00005747
Curator_confirmedWBPerson2987
Ease_of_scoringES3_Easy_to_scorePerson_evidenceWBPerson261
Curator_confirmedWBPerson712
WBPhenotype:0000961Paper_evidenceWBPaper00005747
Curator_confirmedWBPerson2987
Remark"TP12:kaIs(col-19::gfp) and CB224(dpy-11) nematodes were crossed to produce the strain TP16:dpy-11(e224)V;kaIs12(col-19::gfp) that exhibited irregular COL-19::GFP patterns similar but not identical to that of TP14:dpy-5(e61)I;kaIs12(col-19 ::gfp) in which annuli in the dorsal/ ventral hypodermally derived cuticle appeared as a regular, although slightly constricted pattern of bands, again consistent with the Dpy appearance (Fig. 3G,H, denoted an). Similar to dpy-5 mutants, in these dpy-11 mutant animals COL-19::GFP expression in the cuticle overlying the noncontracted seam cell cords was abnormal with annuli appearing branched, prematurely terminated, and occasionally absent, a pattern reflected in the fragmented and branched DPY-7 collagen pattern after antibody staining (Fig. 3H, doubleheaded arrow region)."Paper_evidenceWBPaper00005747
Curator_confirmedWBPerson2987
Phenotype_assayGenotypekaIs12 [col-19::gfp]Paper_evidenceWBPaper00005747
Curator_confirmedWBPerson2987
WBPhenotype:0001412Paper_evidenceWBPaper00005747
Curator_confirmedWBPerson2987
RemarkAuthors report "abnormal branched ala" (Table 1); "When examined at the SEM level, dpy-11(e224) nematodes were particularly Dpy at the mid-body and tail regions and the alae are bifurcated and branched (Fig. 3F, denoted by double-headed arrows)... Lateral ala are present, as depicted with COL-19::GFP and Nomarski, but unlike dpy-5 mutants, in many regions the alae are abnormal, commonly having an unusual bifurcated (Fig. 3G, arrowed) or broken appearance (Fig. 3J, arrowed)."Paper_evidenceWBPaper00005747
Curator_confirmedWBPerson2987
Phenotype_assayGenotypekaIs12 [col-19::gfp]Paper_evidenceWBPaper00005747
Curator_confirmedWBPerson2987
WBPhenotype:0001517Paper_evidenceWBPaper00005747
Curator_confirmedWBPerson2987
RemarkAuthors report "abnormal branched annuli (lateral hypodermis)" (Table 1)Paper_evidenceWBPaper00005747
Curator_confirmedWBPerson2987
Phenotype_assayGenotypekaIs12 [col-19::gfp]Paper_evidenceWBPaper00005747
Curator_confirmedWBPerson2987
Phenotype_not_observedWBPhenotype:0000648Paper_evidenceWBPaper00001328
Curator_confirmedWBPerson712
RemarkRay function was not severely disrupted by the morphological defects as most Ram males mated efficientlyPaper_evidenceWBPaper00001328
Curator_confirmedWBPerson712
EQ_annotationsLife_stageWBls:0000056PATO:0000460Paper_evidenceWBPaper00001328
Curator_confirmedWBPerson712
Phenotype_assayTemperature20CPaper_evidenceWBPaper00001328
Curator_confirmedWBPerson712
Genotypehim-5(e1490)Paper_evidenceWBPaper00001328
Curator_confirmedWBPerson712
WBPhenotype:0000695Paper_evidenceWBPaper00001328
Curator_confirmedWBPerson712
EQ_annotationsAnatomy_termWBbt:0006748PATO:0000460Paper_evidenceWBPaper00001328
Curator_confirmedWBPerson712
Life_stageWBls:0000057PATO:0000460Paper_evidenceWBPaper00001328
Curator_confirmedWBPerson712
Phenotype_assayTemperature20CPaper_evidenceWBPaper00001328
Curator_confirmedWBPerson712
Genotypehim-5(e1490)Paper_evidenceWBPaper00001328
Curator_confirmedWBPerson712
WBPhenotype:0001426Paper_evidenceWBPaper00004883
Curator_confirmedWBPerson712
Phenotype_assayGenotypearIs37Paper_evidenceWBPaper00004883
Curator_confirmedWBPerson712
Reference (19)
RemarkVariation stub/paper connection generated from the May 2021 NN VFP dataset.
Created by WBPerson51134 from the NN_VFP_triage_pipeline
MethodSubstitution_allele