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WormBase Tree Display for Variation: WBVar00144555

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Name Class

WBVar00144555NamePublic_namee2091
Other_nameC38D4.6b.2:c.764+101A>G
C38D4.6a.2:c.770+101A>G
C38D4.6a.1:c.770+101A>G
C38D4.6b.1:c.764+101A>G
C38D4.6c.1:c.626+101A>G
HGVSgCHROMOSOME_III:g.4806599T>C
Sequence_detailsSMapS_parentSequenceC38D4
Flanking_sequencescatacaccgcatcacctttaccgcctttcactctgtgccaaatcaagaaaacttgatatt
Mapping_targetC38D4
Type_of_mutationSubstitutiontcPaper_evidenceWBPaper00004312
Curator_confirmedWBPerson51134
SeqStatusSequenced
Variation_typeAllele
OriginSpeciesCaenorhabditis elegans
StrainWBStrain00004520
WBStrain00007179
WBStrain00007180
WBStrain00007181
WBStrain00007183
WBStrain00007184
LaboratoryCB
StatusLive
AffectsGeneWBGene00003912
TranscriptC38D4.6b.1VEP_consequenceintron_variant
VEP_impactMODIFIER
HGVScC38D4.6b.1:c.764+101A>G
Intron_number7/8
C38D4.6a.1VEP_consequenceintron_variant
VEP_impactMODIFIER
HGVScC38D4.6a.1:c.770+101A>G
Intron_number6/7
C38D4.6b.2VEP_consequenceintron_variant
VEP_impactMODIFIER
HGVScC38D4.6b.2:c.764+101A>G
Intron_number6/7
C38D4.6c.1VEP_consequenceintron_variant
VEP_impactMODIFIER
HGVScC38D4.6c.1:c.626+101A>G
Intron_number4/5
C38D4.6a.2VEP_consequenceintron_variant
VEP_impactMODIFIER
HGVScC38D4.6a.2:c.770+101A>G
Intron_number7/8
Interactor (12)
GeneticsInterpolated_map_positionIII-2.4658
Mapping_dataIn_2_point4229
6036
In_multi_point1482
1483
2081
2083
2085
2086
DescriptionPhenotypeWBPhenotype:0000050Person_evidenceWBPerson261
Curator_confirmedWBPerson712
Remarksome embryonic lethalityPerson_evidenceWBPerson261
Curator_confirmedWBPerson712
WBPhenotype:0000414Paper_evidenceWBPaper00004312
Person_evidenceWBPerson261
Curator_confirmedWBPerson712
WBPerson2987
RemarkV6 lineage transformed into V1-V4; cell autonomous action; variable additional defectsPerson_evidenceWBPerson261
Curator_confirmedWBPerson712
In pal-1(e2091) mutants the V6 cell adopts a fate similar to anterior seam cells V1-V4 in wild type, producing alae instead of rays.Paper_evidenceWBPaper00004312
Curator_confirmedWBPerson2987
EQ_annotationsAnatomy_termWBbt:0006914PATO:0000460Paper_evidenceWBPaper00004312
Curator_confirmedWBPerson2987
WBbt:0007832PATO:0000460Paper_evidenceWBPaper00004312
Curator_confirmedWBPerson2987
WBbt:0004875PATO:0000460Paper_evidenceWBPaper00004312
Curator_confirmedWBPerson2987
WBbt:0004874PATO:0000460Paper_evidenceWBPaper00004312
Curator_confirmedWBPerson2987
WBPhenotype:0000425Paper_evidenceWBPaper00003428
Curator_confirmedWBPerson2987
Remarkpal-1(e2091) results in loss of PAL-1 expression, as determined by antibody staining, in the cells P9/10, V6, and C(a/p)aapp (Figure 4B, Table 1)Paper_evidenceWBPaper00003428
Curator_confirmedWBPerson2987
EQ_annotationsAnatomy_termWBbt:0004412PATO:0000460Paper_evidenceWBPaper00003428
Curator_confirmedWBPerson2987
WBbt:0004411PATO:0000460Paper_evidenceWBPaper00003428
Curator_confirmedWBPerson2987
WBbt:0004875PATO:0000460Paper_evidenceWBPaper00003428
Curator_confirmedWBPerson2987
WBbt:0004874PATO:0000460Paper_evidenceWBPaper00003428
Curator_confirmedWBPerson2987
WBbt:0006521PATO:0000460Paper_evidenceWBPaper00003428
Curator_confirmedWBPerson2987
WBbt:0006399PATO:0000460Paper_evidenceWBPaper00003428
Curator_confirmedWBPerson2987
WBPhenotype:0000495Paper_evidenceWBPaper00004312
Curator_confirmedWBPerson2987
RemarkIn pal-1(e2091) mutants, male tail ray 1 usually fails to migrate posteriorly into the fan region and forms a papilla on the side of the body.Paper_evidenceWBPaper00004312
Curator_confirmedWBPerson2987
EQ_annotationsAnatomy_termWBbt:0006942PATO:0000460Paper_evidenceWBPaper00004312
Curator_confirmedWBPerson2987
WBPhenotype:0000961Paper_evidenceWBPaper00004312
Curator_confirmedWBPerson2987
RemarkExpression of the MAB-5::LACZ transgene was lost in the V6 cell in embryos (Figure 3)Paper_evidenceWBPaper00004312
Curator_confirmedWBPerson2987
EQ_annotationsAnatomy_termWBbt:0004875PATO:0000460Paper_evidenceWBPaper00004312
Curator_confirmedWBPerson2987
WBbt:0004874PATO:0000460Paper_evidenceWBPaper00004312
Curator_confirmedWBPerson2987
Life_stageWBls:0000003PATO:0000460Paper_evidenceWBPaper00004312
Curator_confirmedWBPerson2987
Phenotype_assayGenotypeMAB-5::LACZPaper_evidenceWBPaper00004312
Curator_confirmedWBPerson2987
WBPhenotype:0001278Paper_evidenceWBPaper00003428
Curator_confirmedWBPerson2987
Remarkpal-1(e2091) results in a loss of mab-5::lacZ expression in the V6 cells and in C(a/p)aapp cells (Figure 4B, Table 1)Paper_evidenceWBPaper00003428
Curator_confirmedWBPerson2987
EQ_annotationsAnatomy_termWBbt:0004875PATO:0000460Paper_evidenceWBPaper00003428
Curator_confirmedWBPerson2987
WBbt:0004874PATO:0000460Paper_evidenceWBPaper00003428
Curator_confirmedWBPerson2987
WBbt:0006521PATO:0000460Paper_evidenceWBPaper00003428
Curator_confirmedWBPerson2987
WBbt:0006399PATO:0000460Paper_evidenceWBPaper00003428
Curator_confirmedWBPerson2987
Phenotype_assayGenotypemuIs14 [mab-5::lacZ]Paper_evidenceWBPaper00003428
Curator_confirmedWBPerson2987
WBPhenotype:0001509Paper_evidenceWBPaper00004312
WBPaper00004616
WBPaper00004853
Person_evidenceWBPerson261
Curator_confirmedWBPerson712
WBPerson2987
RemarkAdult males lack V6-derived rays.Person_evidenceWBPerson261
Curator_confirmedWBPerson712
Absence of pal-1 in V6 results in failure to generate the V6 rays (rays 2-6) in the adult male in 96% of animals observed (Figure 1C).Paper_evidenceWBPaper00004312
Curator_confirmedWBPerson2987
"The expression of pal-1 in V6 requires a V6-specific cis regulatory element located in the last pal-1 intron. The regulatory mutation pal-1(e2091) contains a point mutation within this putative enhancer that prevents V6 expression (Hunter et_al, 1999; Zhang and Emmons, 2000). As a result, mab-5 and its downstream targets are not activated and the V6 cell lineage is transformed to one resembling an anterior seam cell lineage (Waring and Kenyon, 1990; Hunter et_al, 1999); instead of rays 2-6, V6 generates longitudinal cuticular ridges, termed alae, normally found along the body only anterior of the ray domain (Pal phenotype, for posterior alae) (Fig 1B)."Paper_evidenceWBPaper00004616
Curator_confirmedWBPerson2987
PenetranceHigh96% penetrancePaper_evidenceWBPaper00004312
Curator_confirmedWBPerson2987
EQ_annotationsAnatomy_termWBbt:0006941PATO:0000460Person_evidenceWBPerson261
Curator_confirmedWBPerson712
WBbt:0004875PATO:0000460Paper_evidenceWBPaper00004312
Curator_confirmedWBPerson2987
WBbt:0004874PATO:0000460Paper_evidenceWBPaper00004312
Curator_confirmedWBPerson2987
WBbt:0006945PATO:0000460Paper_evidenceWBPaper00004312
WBPaper00004616
WBPaper00004853
Curator_confirmedWBPerson2987
WBbt:0006948PATO:0000460Paper_evidenceWBPaper00004312
WBPaper00004616
WBPaper00004853
Curator_confirmedWBPerson2987
WBbt:0006949PATO:0000460Paper_evidenceWBPaper00004312
WBPaper00004616
WBPaper00004853
Curator_confirmedWBPerson2987
WBbt:0006950PATO:0000460Paper_evidenceWBPaper00004312
WBPaper00004616
WBPaper00004853
Curator_confirmedWBPerson2987
WBbt:0006951PATO:0000460Paper_evidenceWBPaper00004312
WBPaper00004616
WBPaper00004853
Curator_confirmedWBPerson2987
WBPhenotype:0001693Paper_evidenceWBPaper00004312
WBPaper00004616
Person_evidenceWBPerson261
Curator_confirmedWBPerson712
WBPerson2987
RemarkAlae extend into tail region.Person_evidenceWBPerson261
Curator_confirmedWBPerson712
In pal-1(e2091) mutants the V6 cell adopts a fate similar to anterior seam cells V1-V4 in wild type, producing alae instead of rays.Paper_evidenceWBPaper00004312
Curator_confirmedWBPerson2987
"The expression of pal-1 in V6 requires a V6-specific cis regulatory element located in the last pal-1 intron. The regulatory mutation pal-1(e2091) contains a point mutation within this putative enhancer that prevents V6 expression (Hunter et_al, 1999; Zhang and Emmons, 2000). As a result, mab-5 and its downstream targets are not activated and the V6 cell lineage is transformed to one resembling an anterior seam cell lineage (Waring and Kenyon, 1990; Hunter et_al, 1999); instead of rays 2-6, V6 generates longitudinal cuticular ridges, termed alae, normally found along the body only anterior of the ray domain (Pal phenotype, for posterior alae) (Fig 1B)."Paper_evidenceWBPaper00004616
Curator_confirmedWBPerson2987
EQ_annotationsAnatomy_termWBbt:0006941PATO:0000460Person_evidenceWBPerson261
Curator_confirmedWBPerson712
WBbt:0006914PATO:0000460Paper_evidenceWBPaper00004312
Curator_confirmedWBPerson2987
WBbt:0007832PATO:0000460Paper_evidenceWBPaper00004312
WBPaper00004616
Curator_confirmedWBPerson2987
WBbt:0004875PATO:0000460Paper_evidenceWBPaper00004312
WBPaper00004616
Curator_confirmedWBPerson2987
WBbt:0004874PATO:0000460Paper_evidenceWBPaper00004312
WBPaper00004616
Curator_confirmedWBPerson2987
Reference (21)
RemarkCurated Sequence_details based on WBPaper00004312Paper_evidenceWBPaper00004312
Curator_confirmedWBPerson51134
MethodSubstitution_allele