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WormBase Tree Display for Variation: WBVar00142941

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Name Class

WBVar00142941EvidencePaper_evidenceWBPaper00027361
NamePublic_namee61
Other_namee61sd
F27C1.8.1:c.607G>T
CE09720:p.Gly203Ter
HGVSgCHROMOSOME_I:g.5432445C>A
Sequence_detailsSMapS_parentSequenceF27C1
Flanking_sequencesccaggacttgctggaccaccaggacgcgatgacttaccggaaagggacaaccaggagtcg
Mapping_targetF27C1
Type_of_mutationSubstitutiongtPaper_evidenceWBPaper00027361
SeqStatusSequenced
Variation_typeAllele
OriginSpeciesCaenorhabditis elegans
Strain (325)
LaboratoryCB
StatusLive
AffectsGeneWBGene00001067
TranscriptF27C1.8.1VEP_consequencestop_gained
VEP_impactHIGH
HGVScF27C1.8.1:c.607G>T
HGVSpCE09720:p.Gly203Ter
cDNA_position607
CDS_position607
Protein_position203
Exon_number1/1
Codon_changeGga/Tga
Amino_acid_changeG/*
InteractorWBInteraction000052055
WBInteraction000052058
WBInteraction000501358
WBInteraction000501364
WBInteraction000519055
WBInteraction000537293
WBInteraction000537294
GeneticsInterpolated_map_positionI-0.0011509
Mapping_dataIn_2_point (165)
In_multi_point (349)
In_pos_neg_data (72)
DescriptionPhenotypeWBPhenotype:0000072Paper_evidenceWBPaper00005747
Curator_confirmedWBPerson2987
Remark"Scanning electron micrograph (SEM) analysis of this strain revealed that dpy-5 mutant nematodes have a relatively normal head morphology; however, the mid-body and tail regions were markedly shorter and fatter than their wild-type counterparts (Fig. 3A)."Paper_evidenceWBPaper00005747
Curator_confirmedWBPerson2987
WBPhenotype:0000420Paper_evidenceWBPaper00061220
Curator_confirmedWBPerson3900
RemarkEnhanced susceptibility to levamisole (Figure 3K)Paper_evidenceWBPaper00061220
Curator_confirmedWBPerson3900
Affected_byMoleculeWBMol:00004019Paper_evidenceWBPaper00061220
Curator_confirmedWBPerson3900
WBPhenotype:0000424Paper_evidenceWBPaper00005747
Curator_confirmedWBPerson2987
Remark"This ability of a mutation in one collagen to affect others was further confirmed for the non-stage-specific collagen DPY-7, after costaining of the TP14:dpy-5(e61)I;kaIs12(col-19::gfp) strain with the DPY-7 monoclonal antibodies (Fig. 3C, red). In the dorsal/ventral hypodermal cells, DPY-7 localized in a regular but constricted pattern that corresponded to the annular furrows (Fig. 3C, denoted an) and was similar to the COL-19::GFP patterns observed in wild-type and in dpy-5 mutants. Conversely, in the matrix overlying the lateral seam cell cords, DPY-7 expression was abnormal: the DPY-7 staining pattern appeared broken (Fig. 3C, denoted by double-headed arrow) and generally deviated from the wildtype staining pattern in which both annuli (COL-19) and annular furrows (DPY-7) normally extend to appose the lateral ala (Fig. 1C)."Paper_evidenceWBPaper00005747
Curator_confirmedWBPerson2987
Phenotype_assayGenotypekaIs12 [col-19::gfp]Paper_evidenceWBPaper00005747
Curator_confirmedWBPerson2987
WBPhenotype:0000583Paper_evidenceWBPaper00000031
WBPaper00005747
Person_evidenceWBPerson261
Curator_confirmedWBPerson48
WBPerson712
WBPerson2987
Remarkstrong dumpy; early larvae non-dumpy; e61/+ is very slightly dumpyPerson_evidenceWBPerson261
Curator_confirmedWBPerson712
Authors report "strong dpy" (Table 1); "It is interesting to note that the annuli overlying the ventral and dorsal hypodermis are present but differ markedly from wild-type nematodes (Fig. 1E, double-headed arrows) in that they do not oppose the lateral alae (Fig. 3A,E, double-headed arrows). As a result, the cuticle above the lateral hypodermal seam cell cords, having failed to contract normally, is extended, and this results in the characteristic Dpy phenotype."Paper_evidenceWBPaper00005747
Curator_confirmedWBPerson2987
Semi_dominantPerson_evidenceWBPerson261
Curator_confirmedWBPerson712
Phenotype_assayGenotypekaIs12 [col-19::gfp]Paper_evidenceWBPaper00005747
Curator_confirmedWBPerson2987
Ease_of_scoringES3_Easy_to_scorePerson_evidenceWBPerson261
Curator_confirmedWBPerson712
WBPhenotype:0000679Paper_evidenceWBPaper00005747
Curator_confirmedWBPerson2987
Remark"In some areas corresponding to the seam cell cords, large vesicles are evident and the tagged protein is found concentrated at the periphery of these structures (Fig. 3D), perhaps indicating a failure in the complete secretion of COL-19::GFP."Paper_evidenceWBPaper00005747
Curator_confirmedWBPerson2987
Phenotype_assayGenotypekaIs12 [col-19::gfp]Paper_evidenceWBPaper00005747
Curator_confirmedWBPerson2987
WBPhenotype:0000948Paper_evidenceWBPaper00005747
Curator_confirmedWBPerson2987
Remark"By using a hypodermal junction-specific monoclonal antibody, MH27 (Francis and Waterston, 1985), we were able to confirm that the hypodermal seam cells were relatively normal in dpy-5(e61) mutant nematodes, whereas the overlying cuticle was abnormal (supplementary Fig. II, F, available online at www.interscience.wiley.com/developmentaldynamics/suppmat/index.html)."Paper_evidenceWBPaper00005747
Curator_confirmedWBPerson2987
WBPhenotype:0000961Paper_evidenceWBPaper00005747
Curator_confirmedWBPerson2987
Remark"When the strain TP14:dpy-5(e61) I;kaIs12(col-19::gfp), resulting from crossing TP12:kaIs(col-19::gfp) with the dpy-5(e61) mutant, was examined under epifluorescence, the ala, apparent by means of Nomarski imaging (Fig. 3E), were shown to express COL-19::GFP in a variable manner (Fig. 3B, arrowed). In addition, two distinct regions became apparent: a region overlying the dorsal/ventral hypodermal cells, which showed annuli fluorescing as distinct bands as observed in wildtype TP12:kaIs(col-19::gfp) worms (Fig. 3B-D, denoted an), and a second, extended region of disruption overlying the seam cell cords (Fig. 3B-D, double-headed arrows)... The region of dominant COL-19::GFP mutant expression and disruption overlying the lateral seam cell hypodermis has a complex fibrous and broken appearance (Fig. 3B-D, double-headed arrows)... These data show that mutation of the DPY-5 collagen in these nematodes is sufficient to alter the expression patterns of the COL-19::GFP collagen."Paper_evidenceWBPaper00005747
Curator_confirmedWBPerson2987
Phenotype_assayGenotypekaIs12 [col-19::gfp]Paper_evidenceWBPaper00005747
Curator_confirmedWBPerson2987
WBPhenotype:0001412Paper_evidenceWBPaper00005747
Curator_confirmedWBPerson2987
RemarkAuthors report "multiple or discontinuous ala" (Table 1); "The region of dominant COL-19::GFP mutant expression and disruption overlying the lateral seam cell hypodermis has a complex fibrous and broken appearance (Fig. 3B-D, double-headed arrows)."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); "The disrupted region did not have the characteristic annuli and instead appeared featureless when viewed by Nomarski microscopy (Fig. 3E, double-headed arrow). The regular annular fluorescence did appear more closely packed than in wildtype nematodes (Fig. 3B-D, denoted an), having a periodicity of approximately 0.75 μm compared with 1.2 μm, respectively, an observation consistent with the shorter length of these adult nematodes."Paper_evidenceWBPaper00005747
Curator_confirmedWBPerson2987
Phenotype_assayGenotypekaIs12 [col-19::gfp]Paper_evidenceWBPaper00005747
Curator_confirmedWBPerson2987
WBPhenotype:0001621Paper_evidenceWBPaper00053771
Curator_confirmedWBPerson557
RemarkHypersensitive to the reactive small molecule and prooxidant juglone.Paper_evidenceWBPaper00053771
Curator_confirmedWBPerson557
Phenotype_not_observedWBPhenotype:0000071Paper_evidenceWBPaper00005747
Curator_confirmedWBPerson2987
Remark"Scanning electron micrograph (SEM) analysis of this strain revealed that dpy-5 mutant nematodes have a relatively normal head morphology; however, the mid-body and tail regions were markedly shorter and fatter than their wild-type counterparts (Fig. 3A)."Paper_evidenceWBPaper00005747
Curator_confirmedWBPerson2987
WBPhenotype:0000505Paper_evidenceWBPaper00001328
Curator_confirmedWBPerson712
RemarkMales are not Ram.Paper_evidenceWBPaper00001328
Curator_confirmedWBPerson712
EQ_annotationsAnatomy_termWBbt:0006941PATO:0000460Paper_evidenceWBPaper00001328
Curator_confirmedWBPerson712
Life_stageWBls:0000056PATO:0000460Paper_evidenceWBPaper00001328
Curator_confirmedWBPerson712
Phenotype_assayTemperature20CPaper_evidenceWBPaper00001328
Curator_confirmedWBPerson712
Genotypehim-5(e1490)Paper_evidenceWBPaper00001328
Curator_confirmedWBPerson712
WBPhenotype:0000901Paper_evidenceWBPaper00040002
Curator_confirmedWBPerson712
Remarkmutation has no effect on gland morphologyPaper_evidenceWBPaper00040002
Curator_confirmedWBPerson712
WBPhenotype:0001426Paper_evidenceWBPaper00004883
Curator_confirmedWBPerson712
Phenotype_assayGenotypearIs37Paper_evidenceWBPaper00004883
Curator_confirmedWBPerson712
WBPhenotype:0001732Paper_evidenceWBPaper00032033
Curator_confirmedWBPerson712
RemarkAnimals exhibited the same pH survival profile as the wild-type strain over a range of pH 3 to pH 10.Paper_evidenceWBPaper00032033
Curator_confirmedWBPerson712
Phenotype_assayTreatmentMixed or synchronised populations of nematodes were exposed to 500ul M9 buffer (100 mM phosphate, 85 mM NaCl, 1 mM MgSO4 buffered at the appropriate pH by varying KH2PO4 and Na2HPO4 concentrations accordingly) at varying pHs in a 24-well plate format for 4 h (200 nematodes/well). Nematodes were scored as viable by the presence of touch response and pharyngeal pumping.Paper_evidenceWBPaper00032033
Curator_confirmedWBPerson712
WBPhenotype:0002176Paper_evidenceWBPaper00005747
Curator_confirmedWBPerson2987
Remark"By using a hypodermal junction-specific monoclonal antibody, MH27 (Francis and Waterston, 1985), we were able to confirm that the hypodermal seam cells were relatively normal in dpy-5(e61) mutant nematodes, whereas the overlying cuticle was abnormal (supplementary Fig. II, F, available online at www.interscience.wiley.com/developmentaldynamics/suppmat/index.html)."Paper_evidenceWBPaper00005747
Curator_confirmedWBPerson2987
Reference (45)
RemarkVariation stub/paper connection generated from the May 2021 NN VFP dataset.
Created by WBPerson51134 from the NN_VFP_triage_pipeline
MethodSubstitution_allele