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: WBVar00145299

expand all nodes | collapse all nodes | view schema

Name Class

WBVar00145299EvidencePaper_evidenceWBPaper00025200
NamePublic_nameez25
Other_nameC27A2.6.1:c.1040C>A
CE50438:p.Ser347Ter
HGVSgCHROMOSOME_II:g.5079897G>T
Sequence_detailsSMapS_parentSequenceC27A2
Flanking_sequencesgaatgccatcaatctcgacggcttcatcttattttcaagcatcaccggtgtgtatactt
Mapping_targetC27A2
Type_of_mutationSubstitutioncaPaper_evidenceWBPaper00025200
SeqStatusSequenced
Variation_typeAllele
OriginSpeciesCaenorhabditis elegans
StrainWBStrain00006443
LaboratoryDZ
StatusLive
AffectsGeneWBGene00001102
TranscriptC27A2.6.1VEP_consequencestop_gained
VEP_impactHIGH
HGVScC27A2.6.1:c.1040C>A
HGVSpCE50438:p.Ser347Ter
cDNA_position1057
CDS_position1040
Protein_position347
Exon_number6/12
Codon_changetCa/tAa
Amino_acid_changeS/*
InteractorWBInteraction000004834
WBInteraction000502114
WBInteraction000542213
WBInteraction000542214
WBInteraction000542215
WBInteraction000542216
GeneticsInterpolated_map_positionII-2.53774
DescriptionPhenotypeWBPhenotype:0000154Paper_evidenceWBPaper00025200
Curator_confirmedWBPerson2987
Remark"Many dsh-2(ez25) hermaphrodites are fertile, but they produce only 5-10 embryos each. dsh-2(or302) animals are slightly less fertile than dsh-2(ez25)."Paper_evidenceWBPaper00025200
Curator_confirmedWBPerson2987
WBPhenotype:0000691Paper_evidenceWBPaper00025200
Curator_confirmedWBPerson2987
Remark"However, at the tissue level all dsh-2 male gonads are disorganized, with somatic cells and germ line cells misplaced within the gonad (N>100) (Fig. 1E,F). To visualize this, we used the male gonadal cell marker ezIs1 (Chang et al., 2004). In wild-type males, ezIs1 is expressed in the seminal vesicle and adjacent vas deferens cells in a single region near the middle of the gonad (Fig. 1G). However, in dsh-2(ez25) male gonads ezIs1 expression is frequently observed in several clusters of cells, and these cells occur in variable locations, ranging from near the proximal tip of the gonad to near the tail."Paper_evidenceWBPaper00025200
Curator_confirmedWBPerson2987
EQ_annotationsAnatomy_termWBbt:0006794PATO:0000460Paper_evidenceWBPaper00025200
Curator_confirmedWBPerson2987
Phenotype_assayGenotypeezIs1 [K09C8.2::GFP]Paper_evidenceWBPaper00025200
Curator_confirmedWBPerson2987
WBPhenotype:0000961Paper_evidenceWBPaper00025200
Curator_confirmedWBPerson2987
Remark"As expected, in wild type L1 hermaphrodites GFP::POP-1 levels were slightly higher in the proximal than in the distal Z1/Z4 daughters (Fig. 4A,B) (Siegfried et al., 2004). Reducing the dose of dsh-2 by a half (dsh-2/C) resulted in nuclear GFP::POP-1 levels that are approximately equal between proximal and distal Z1/Z4 daughters (Fig. 4C,D). Strikingly, nuclear GFP::POP-1 asymmetry was reversed in dsh-2 homozygotes, and was detectable only in the distal Z1/Z4 daughters (Fig. 4E,F)."Paper_evidenceWBPaper00025200
Curator_confirmedWBPerson2987
EQ_annotationsAnatomy_termWBbt:0004577PATO:0000460Paper_evidenceWBPaper00025200
Curator_confirmedWBPerson2987
WBbt:0004574PATO:0000460Paper_evidenceWBPaper00025200
Curator_confirmedWBPerson2987
Phenotype_assayGenotypesys-1p::GFP::POP-1Paper_evidenceWBPaper00025200
Curator_confirmedWBPerson2987
WBPhenotype:0001357Paper_evidenceWBPaper00025200
Curator_confirmedWBPerson2987
Remark"Most dsh-2 males have J-shaped gonads similar to those of wild type males (73%, N=100)."Paper_evidenceWBPaper00025200
Curator_confirmedWBPerson2987
PenetranceIncomplete27Paper_evidenceWBPaper00025200
Curator_confirmedWBPerson2987
EQ_annotationsAnatomy_termWBbt:0006794PATO:0000460Paper_evidenceWBPaper00025200
Curator_confirmedWBPerson2987
WBPhenotype:0001586Paper_evidenceWBPaper00025200
Curator_confirmedWBPerson2987
Remark"Wild type hermaphrodites have a single AC (Kimble and Hirsh, 1979), and express cdh-3:gfp at high levels in one gonadal cell at the early L3 stage (Fig. 2A). By contrast, dsh-2(ez25) hermaphrodites contain a variable number of cdh-3::gfp expressing gonadal cells, with 60% possessing one, 38% possessing two, and 2% possessing three (NZ52) (Fig. 2B)."Paper_evidenceWBPaper00025200
Curator_confirmedWBPerson2987
PenetranceIncomplete40Paper_evidenceWBPaper00025200
Curator_confirmedWBPerson2987
EQ_annotationsAnatomy_termWBbt:0004522PATO:0000460Paper_evidenceWBPaper00025200
Curator_confirmedWBPerson2987
Phenotype_assayGenotypecdh-3:gfpPaper_evidenceWBPaper00025200
Curator_confirmedWBPerson2987
WBPhenotype:0001962Paper_evidenceWBPaper00025200
Curator_confirmedWBPerson2987
Remark"In wild-type hermaphrodites lag-2::gfp is expressed in DTCs at both ends of the growing gonadal arm (Fig. 2C). By contrast, most dsh-2(ez25) hermaphrodites lack one (54%) or both (28%) of the DTCs (N=50; Fig. 2D). The frequency of missing DTCs in dsh-2(ez25) closely correlates with the frequency of missing gonadal arms, and thus is likely to contribute to that defect."Paper_evidenceWBPaper00025200
Curator_confirmedWBPerson2987
EQ_annotationsAnatomy_termWBbt:0006863PATO:0000460Paper_evidenceWBPaper00025200
Curator_confirmedWBPerson2987
Phenotype_assayGenotypelag-2::gfpPaper_evidenceWBPaper00025200
Curator_confirmedWBPerson2987
WBPhenotype:0002189Paper_evidenceWBPaper00025200
Curator_confirmedWBPerson2987
Remark"To assess whether dsh-2 males also have PD axis defects, we therefore assayed the number of LCs. The LC in wild type males is evident as a large round cell at the growing end of the gonad and strongly expresses lag-2::gfp (Fig. 2E). Most dsh-2 males have a single LC that guides the growing gonadal arm and is engulfed when it makes a connection with the cloaca, as in wild-type (86% N=49). However, we also observed animals with two LCs (14% N=49, Fig. 2F). In these animals, one LC does not get engulfed and persists into the late L4 and adult stages (Fig. 2F)."Paper_evidenceWBPaper00025200
Curator_confirmedWBPerson2987
PenetranceIncomplete14Paper_evidenceWBPaper00025200
Curator_confirmedWBPerson2987
EQ_annotationsAnatomy_termWBbt:0005062PATO:0000460Paper_evidenceWBPaper00025200
Curator_confirmedWBPerson2987
Phenotype_assayGenotypelag-2::GFPPaper_evidenceWBPaper00025200
Curator_confirmedWBPerson2987
WBPhenotype:0002207Paper_evidenceWBPaper00025200
Curator_confirmedWBPerson2987
Remark"ez25 hermaphrodites frequently lack one or both gonad arms, while males form a J-shaped gonad with grossly normal morphology... 34% of dsh-2(ez25) and 43% of dsh-2(or302) hermaphrodites are missing both gonadal arms and 46% of dsh-2(ez25) and 43% of dsh-2(or302) mutants lack one gonadal arm (Fig. 1B,C, Table 1)." "The stop codon introduced by the dsh-2(ez25) mutation immediately precedes the PDZ domain, a critical domain in other dishevelled proteins, suggesting that ez25 may be a strong loss-of-function mutation or null allele... The slightly weaker phenotype of ez25 relative to or302 suggests that ez25 may retain some DSH-2 function."Paper_evidenceWBPaper00025200
Curator_confirmedWBPerson2987
PenetranceIncomplete80Paper_evidenceWBPaper00025200
Curator_confirmedWBPerson2987
Variation_effectHypomorph_reduction_of_functionPaper_evidenceWBPaper00025200
Curator_confirmedWBPerson2987
EQ_annotationsAnatomy_termWBbt:0005178PATO:0000460Paper_evidenceWBPaper00025200
Curator_confirmedWBPerson2987
ReferenceWBPaper00025200
MethodSubstitution_allele