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WormBase Tree Display for Variation: WBVar00142901

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Name Class

WBVar00142901EvidencePaper_evidenceWBPaper00003865
NamePublic_namee2
Other_nameCE25060:p.Gly912Glu
M03A1.1.1:c.2735G>A
HGVSgCHROMOSOME_II:g.4589893G>A
Sequence_detailsSMapS_parentSequenceM03A1
Flanking_sequencestcactccatcctctgatgtctggtcgttcgagttgtgatctgggaagtgtgttcattcgg
Mapping_targetM03A1
Type_of_mutationSubstitutiongaPaper_evidenceWBPaper00003865
SeqStatusSequenced
Variation_typeAllele
OriginSpeciesCaenorhabditis elegans
StrainWBStrain00004075
WBStrain00008611
LaboratoryCB
StatusLive
AffectsGeneWBGene00006868
TranscriptM03A1.1.1 (12)
Interactor (26)
GeneticsInterpolated_map_positionII-3.84859
Mapping_dataIn_multi_point881
882
1880
In_pos_neg_data4252
DescriptionPhenotypeWBPhenotype:0000050Paper_evidenceWBPaper00040551
Curator_confirmedWBPerson2987
Remark"George et al. [8] previously found that P cell midline alignment and embryonic lethal defects are relatively rare in the kinase dead [vab-1(e2)] mutant embryos compared to vab-1(0) embryos (see also Figures 5A and 5C; Table S2), suggesting that a kinase-independent function of VAB-1 is largely sufficient for these processes."Paper_evidenceWBPaper00040551
Curator_confirmedWBPerson2987
PenetranceLow6Paper_evidenceWBPaper00040551
Curator_confirmedWBPerson2987
EQ_annotationsLife_stageWBls:0000003PATO:0000460Paper_evidenceWBPaper00040551
Curator_confirmedWBPerson2987
WBPhenotype:0000071Paper_evidenceWBPaper00000214
Curator_confirmedWBPerson712
WBPhenotype:0000119Paper_evidenceWBPaper00035407
Curator_confirmedWBPerson2021
Remarkvab-1(e2) allele showed increased DAF-18/PTEN expression compared to wild-type levelsPaper_evidenceWBPaper00035407
Curator_confirmedWBPerson2021
Phenotype_assayTreatmentWestern blots with DAF-18 antibodyPaper_evidenceWBPaper00035407
Curator_confirmedWBPerson2021
WBPhenotype:0000379Paper_evidenceWBPaper00000031
Person_evidenceWBPerson261
Curator_confirmedWBPerson48
WBPerson712
RemarkNotched head.Person_evidenceWBPerson261
Curator_confirmedWBPerson712
PenetranceIncompletevariable penetrancePaper_evidenceWBPaper00000031
Curator_confirmedWBPerson48
WBPhenotype:0000594Paper_evidenceWBPaper00040551
Curator_confirmedWBPerson2987
Remark"As a consequence of the protrusion defects or gaps between nonsister cells, the presumptive pocket bridge cells are impeded in their migration over the scaffold cells to reach the midline. The entire group of unrearranged cells caused by this defect is referred to hereafter as the "obstructed bridge" even though in many embryos it appears to assemble with a delay just in advance of P9/10 cell migration (see below). An obstructed pocket bridge variably hindered progression of P9/10 cells toward the midline (Figures 2C and 2E). In some vab-1 mutant embryos, P9/10 cells progressed minimally toward the ventral midline. In these cases, blocks in P9/10 migration often occurred at borders between scaffold cells (Figure 2E). In other embryos there was substantial progression of P9/10 cells toward the midline, but this was slower than in wild-type embryos and involved movement of the entire leading edge of the presumptive bridge cells toward the midline just in advance of the P9/10 leading edge (see Discussion). Five of eight P9/10 cells in kinase dead embryos and only eight of 28 in null embryos reached the midline before embryo elongation began. There were also few, if any, kinase dead embryos in which a P9/10 cell failed to migrate at all or migrated minimally toward the midline (0 of 8 compared to 12 of 28 for null embryos). Among the types of mutant embryos observed, only those in which both P9/10 cells fail to migrate (5 of 14 null and 0 of 4 kinase dead) have a severe open pocket defect at the time embryo elongation begins, whereas others have a small open pocket defect (Figure 2E). These results suggest that the ability of P9/10 cells to migrate over an obstructed pocket bridge is efficient enough in vab-1 null embryos to account for their 60% embryonic viability but even more efficient in vab-1 kinase dead embryos accounting for their 94% viability."Paper_evidenceWBPaper00040551
Curator_confirmedWBPerson2987
EQ_annotationsAnatomy_termWBbt:0004412PATO:0000460Paper_evidenceWBPaper00040551
Curator_confirmedWBPerson2987
WBbt:0004411PATO:0000460Paper_evidenceWBPaper00040551
Curator_confirmedWBPerson2987
Life_stageWBls:0000003PATO:0000460Paper_evidenceWBPaper00040551
Curator_confirmedWBPerson2987
WBPhenotype:0001346Paper_evidenceWBPaper00040551
Curator_confirmedWBPerson2987
Remark"To further examine the roles of Eph receptor and semaphorin signaling in pocket closure, we followed dozens of carefully staged embryos of vab-1 null and kinase dead mutants and also analyzed null (n = 14) and kinase dead (n = 4) embryos by time-lapse photomicroscopy. The spatiotemporal pattern of plx-2 expression revealed that the pocket bridge and scaffold progenitors, their subsequent divisions, and adhesion between sister cells appeared unaffected in all vab-1 null and kinase dead embryos examined (Figures 1C and 2C; Figure S2). Reported gastrulation defects in vab-1(0) embryos [8] did not produce obvious disorganization of plexin band cells in any embryos we examined, possibly because embryos can correct or bypass these defects. However, we did find that none of the vab-1(0) or vab-1(k) mutant embryos was able to form or maintain the narrow bridge cell protrusions that normally extend over the anterior surface of the scaffold cells to pull the presumptive bridge cells to the midline. These protrusions were also never observed in the staged mutant embryos."Paper_evidenceWBPaper00040551
Curator_confirmedWBPerson2987
EQ_annotationsLife_stageWBls:0000003PATO:0000460Paper_evidenceWBPaper00040551
Curator_confirmedWBPerson2987
WBPhenotype:0001530Person_evidenceWBPerson261
Curator_confirmedWBPerson712
RemarkVariable dystrophy of ventral cephalic region, especially in L1; penetrance < 70%. Easy to impossible to score (ES3/0).Person_evidenceWBPerson261
Curator_confirmedWBPerson712
PenetranceIncomplete<70%Person_evidenceWBPerson261
Curator_confirmedWBPerson712
WBPhenotype:0002045Paper_evidenceWBPaper00040629
Curator_confirmedWBPerson712
RemarkMutants show decreased germ-cell corpse numbers.Paper_evidenceWBPaper00040629
Curator_confirmedWBPerson712
WBPhenotype:0002403Paper_evidenceWBPaper00040551
Curator_confirmedWBPerson2987
Remark"George et al. [8] previously found that P cell midline alignment and embryonic lethal defects are relatively rare in the kinase dead [vab-1(e2)] mutant embryos compared to vab-1(0) embryos (see also Figures 5A and 5C; Table S2), suggesting that a kinase-independent function of VAB-1 is largely sufficient for these processes."Paper_evidenceWBPaper00040551
Curator_confirmedWBPerson2987
PenetranceLow3Paper_evidenceWBPaper00040551
Curator_confirmedWBPerson2987
EQ_annotationsAnatomy_termWBbt:0008115PATO:0001654Paper_evidenceWBPaper00040551
Curator_confirmedWBPerson2987
Life_stageWBls:0000003PATO:0000460Paper_evidenceWBPaper00040551
Curator_confirmedWBPerson2987
WBPhenotype:0002404Paper_evidenceWBPaper00040551
Curator_confirmedWBPerson2987
Remark"Although the absence of these protrusions is the likely cause of ventral pocket defects in vab-1 null embryos, 97% of these also have gaps between nonsister plexin band cells beyond 340' post-first cleavage (PFC) of the zygote (Figure 1C, 340'; Figure 2C; Figure S2) when these gaps are usually closed in wild-type embryos (Figure 1B, 340'; Figure 2B). These gaps could, in principle, also be causal for embryonic lethality, however, in most null and kinase dead embryos, these gaps are closed with a delay (i.e, after 340' PFC), possibly by small filopodia-like protrusions sometimes seen emanating from bridge and scaffold cells (Figure S2, 360' closed arrowhead) or by constriction of the entire midline region. This suggests that these gaps delay rather than block pocket closure."Paper_evidenceWBPaper00040551
Curator_confirmedWBPerson2987
EQ_annotationsLife_stageWBls:0000003PATO:0000460Paper_evidenceWBPaper00040551
Curator_confirmedWBPerson2987
Phenotype_not_observedWBPhenotype:0000050Paper_evidenceWBPaper00031667
Curator_confirmedWBPerson712
PenetranceHighPaper_evidenceWBPaper00031667
Curator_confirmedWBPerson712
Phenotype_assayTemperature15Paper_evidenceWBPaper00031667
Curator_confirmedWBPerson712
WBPhenotype:0000247Paper_evidenceWBPaper00000214
Curator_confirmedWBPerson712
WBPhenotype:0000254Paper_evidenceWBPaper00000214
Curator_confirmedWBPerson712
WBPhenotype:0001652Paper_evidenceWBPaper00032446
Curator_confirmedWBPerson2021
Reference (12)
MethodSubstitution_allele