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WormBase Tree Display for Variation: WBVar00275487

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Name Class

WBVar00275487EvidencePaper_evidenceWBPaper00005082
NamePublic_namezu123
Other_nameCE16526:p.Met1?
VF36H2L.1.1:c.3G>T
HGVSgCHROMOSOME_I:g.9233555C>A
Sequence_detailsSMapS_parentSequenceVF36H2L
Flanking_sequencesatatttcgattaaataaattttcagatcatggttacctattaacaattgcttgttatatt
Mapping_targetVF36H2L
Type_of_mutationSubstitutiongh
SeqStatusSequenced
Variation_typeAllele
OriginSpeciesCaenorhabditis elegans
LaboratoryJJ
StatusLive
AffectsGeneWBGene00000147
TranscriptVF36H2L.1.1 (12)
InteractorWBInteraction000501765
WBInteraction000501766
WBInteraction000521901
WBInteraction000521904
WBInteraction000521905
WBInteraction000541719
WBInteraction000541720
WBInteraction000541721
GeneticsInterpolated_map_positionI3.68227
DescriptionPhenotypeWBPhenotype:0000050Paper_evidenceWBPaper00005082
WBPaper00040544
Curator_confirmedWBPerson2021
WBPerson712
Remarksevere allele of aph-1 that causes fully penetrant embryonic lethalityPaper_evidenceWBPaper00040544
Curator_confirmedWBPerson712
PenetranceCompletePaper_evidenceWBPaper00005082
WBPaper00040544
Curator_confirmedWBPerson2021
WBPerson712
Range100100Paper_evidenceWBPaper00005082
Curator_confirmedWBPerson2021
RecessivePaper_evidenceWBPaper00005082
Curator_confirmedWBPerson2021
EQ_annotationsLife_stageWBls:0000003PATO:0000460Paper_evidenceWBPaper00005082
Curator_confirmedWBPerson2021
Maternal
WBPhenotype:0000052Person_evidenceWBPerson261
Curator_confirmedWBPerson712
RemarkMaternal effect lethal. Maternal rescue complete.Person_evidenceWBPerson261
Curator_confirmedWBPerson712
MaternalStrictly_maternalPerson_evidenceWBPerson261
Curator_confirmedWBPerson712
WBPhenotype:0000080Paper_evidenceWBPaper00005082
WBPaper00040544
Person_evidenceWBPerson261
Curator_confirmedWBPerson2021
WBPerson712
RemarkMutants have a partial pharynx as evident from their morphology as well as antibody staining to pharyngeal cellsPaper_evidenceWBPaper00005082
Curator_confirmedWBPerson2021
no anterior pharynxPerson_evidenceWBPerson261
Curator_confirmedWBPerson712
embryos lack an anterior pharynx (due to failed Notch signaling at the 12-cell stage)Paper_evidenceWBPaper00040544
Curator_confirmedWBPerson712
PenetranceCompletePaper_evidenceWBPaper00040544
Curator_confirmedWBPerson712
RecessivePaper_evidenceWBPaper00005082
Curator_confirmedWBPerson2021
EQ_annotationsAnatomy_termWBbt:0003681PATO:0000460Paper_evidenceWBPaper00005082
Curator_confirmedWBPerson2021
Life_stageWBls:0000003PATO:0000460Paper_evidenceWBPaper00005082
Curator_confirmedWBPerson2021
WBls:0000072PATO:0000460Paper_evidenceWBPaper00040544
Curator_confirmedWBPerson712
MaternalStrictly_maternalPerson_evidenceWBPerson261
Curator_confirmedWBPerson712
Phenotype_assayTreatmentantibody staining with mAb 3NB12 (stains pharyngeal cells)Paper_evidenceWBPaper00005082
Curator_confirmedWBPerson2021
WBPhenotype:0000749Paper_evidenceWBPaper00040544
Curator_confirmedWBPerson712
RemarkEmbryos fail to complete body morphogenesis because of failed Notch signaling at the 4- cell stagePaper_evidenceWBPaper00040544
Curator_confirmedWBPerson712
PenetranceCompletePaper_evidenceWBPaper00040544
Curator_confirmedWBPerson712
EQ_annotationsLife_stageWBls:0000008PATO:0000460Paper_evidenceWBPaper00040544
Curator_confirmedWBPerson712
WBPhenotype:0000867Person_evidenceWBPerson261
Curator_confirmedWBPerson712
Remarkresembles Glp-1 embryonic phenotypePerson_evidenceWBPerson261
Curator_confirmedWBPerson712
MaternalStrictly_maternalPerson_evidenceWBPerson261
Curator_confirmedWBPerson712
WBPhenotype:0001403Paper_evidenceWBPaper00005082
Curator_confirmedWBPerson2021
RemarkMislocalization of APH-2 protein. In aph-1 mutant embryos, APH-2 was not detectable on the cell surface, and was instead prominent in the cytoplasmPaper_evidenceWBPaper00005082
Curator_confirmedWBPerson2021
PenetranceCompletePaper_evidenceWBPaper00005082
Curator_confirmedWBPerson2021
Range100100Paper_evidenceWBPaper00005082
Curator_confirmedWBPerson2021
RecessivePaper_evidenceWBPaper00005082
Curator_confirmedWBPerson2021
EQ_annotationsLife_stageWBls:0000008PATO:0000460Paper_evidenceWBPaper00005082
Curator_confirmedWBPerson2021
WBls:0000071PATO:0000460Paper_evidenceWBPaper00005082
Curator_confirmedWBPerson2021
WBls:0000072PATO:0000460Paper_evidenceWBPaper00005082
Curator_confirmedWBPerson2021
WBls:0000009PATO:0000460Paper_evidenceWBPaper00005082
Curator_confirmedWBPerson2021
Maternal
Phenotype_assayTreatmentantibody staining with anti-APH-2Paper_evidenceWBPaper00005082
Curator_confirmedWBPerson2021
WBPhenotype:0001566Paper_evidenceWBPaper00005082
Curator_confirmedWBPerson2021
RemarkHypodermis fails to enclose the embryo, and instead clumps together on the dorsal side of the embryoPaper_evidenceWBPaper00005082
Curator_confirmedWBPerson2021
PenetranceCompletePaper_evidenceWBPaper00005082
Curator_confirmedWBPerson2021
Range100100Paper_evidenceWBPaper00005082
Curator_confirmedWBPerson2021
RecessivePaper_evidenceWBPaper00005082
Curator_confirmedWBPerson2021
EQ_annotationsLife_stageWBls:0000003PATO:0000460Paper_evidenceWBPaper00005082
Curator_confirmedWBPerson2021
Maternal
Phenotype_not_observedWBPhenotype:0000093Person_evidenceWBPerson261
Curator_confirmedWBPerson712
Remarkno Lag phenotypesPerson_evidenceWBPerson261
Curator_confirmedWBPerson712
MaternalStrictly_maternalPerson_evidenceWBPerson261
Curator_confirmedWBPerson712
WBPhenotype:0000823Person_evidenceWBPerson261
Curator_confirmedWBPerson712
Remarkno germ line phenotypesPerson_evidenceWBPerson261
Curator_confirmedWBPerson712
MaternalStrictly_maternalPerson_evidenceWBPerson261
Curator_confirmedWBPerson712
ReferenceWBPaper00040544
WBPaper00005082
MethodSubstitution_allele