WormBase Tree Display for Variation: WBVar00094660
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WBVar00094660 | Evidence | Paper_evidence | WBPaper00005082 | ||||||
---|---|---|---|---|---|---|---|---|---|
Name | Public_name | or28 | |||||||
Other_name | CE16526:p.Gly123Asp | ||||||||
VF36H2L.1.1:c.368G>A | |||||||||
HGVSg | CHROMOSOME_I:g.9232884C>T | ||||||||
Sequence_details (5) | |||||||||
Variation_type | Allele | ||||||||
Origin | Species | Caenorhabditis elegans | |||||||
Strain | WBStrain00007372 | ||||||||
WBStrain00007373 | |||||||||
WBStrain00007374 | |||||||||
WBStrain00007375 | |||||||||
Laboratory | EU | ||||||||
Status | Live | ||||||||
Affects | Gene | WBGene00000147 | |||||||
Transcript | VF36H2L.1.1 (12) | ||||||||
Interactor | WBInteraction000521900 | ||||||||
WBInteraction000521903 | |||||||||
Genetics | Interpolated_map_position | I | 3.67967 | ||||||
Description | Phenotype | WBPhenotype:0000006 | Paper_evidence | WBPaper00005082 | |||||
Curator_confirmed | WBPerson2021 | ||||||||
Penetrance | Complete | Paper_evidence | WBPaper00005082 | ||||||
Curator_confirmed | WBPerson2021 | ||||||||
Range | 100 | 100 | Paper_evidence | WBPaper00005082 | |||||
Curator_confirmed | WBPerson2021 | ||||||||
Recessive | Paper_evidence | WBPaper00005082 | |||||||
Curator_confirmed | WBPerson2021 | ||||||||
EQ_annotations | Life_stage | WBls:0000041 | PATO:0000460 | Paper_evidence | WBPaper00005082 | ||||
Curator_confirmed | WBPerson2021 | ||||||||
WBPhenotype:0000050 | Paper_evidence | WBPaper00005082 | |||||||
WBPaper00040544 | |||||||||
Curator_confirmed | WBPerson2021 | ||||||||
WBPerson712 | |||||||||
Remark | severe allele of aph-1 that causes fully penetrant embryonic lethality | Paper_evidence | WBPaper00040544 | ||||||
Curator_confirmed | WBPerson712 | ||||||||
Penetrance | Complete | Paper_evidence | WBPaper00005082 | ||||||
WBPaper00040544 | |||||||||
Curator_confirmed | WBPerson2021 | ||||||||
WBPerson712 | |||||||||
Range | 100 | 100 | Paper_evidence | WBPaper00005082 | |||||
Curator_confirmed | WBPerson2021 | ||||||||
Recessive | Paper_evidence | WBPaper00005082 | |||||||
Curator_confirmed | WBPerson2021 | ||||||||
EQ_annotations | Life_stage | WBls:0000003 | PATO:0000460 | Paper_evidence | WBPaper00005082 | ||||
Curator_confirmed | WBPerson2021 | ||||||||
Maternal | |||||||||
WBPhenotype:0000080 | Paper_evidence | WBPaper00040544 | |||||||
Curator_confirmed | WBPerson712 | ||||||||
Remark | embryos lack an anterior pharynx (due to failed Notch signaling at the 12-cell stage) | Paper_evidence | WBPaper00040544 | ||||||
Curator_confirmed | WBPerson712 | ||||||||
Penetrance | Complete | Paper_evidence | WBPaper00040544 | ||||||
Curator_confirmed | WBPerson712 | ||||||||
EQ_annotations | Life_stage | WBls:0000072 | PATO:0000460 | Paper_evidence | WBPaper00040544 | ||||
Curator_confirmed | WBPerson712 | ||||||||
WBPhenotype:0000749 | Paper_evidence | WBPaper00040544 | |||||||
Curator_confirmed | WBPerson712 | ||||||||
Remark | Embryos fail to complete body morphogenesis because of failed Notch signaling at the 4- cell stage | Paper_evidence | WBPaper00040544 | ||||||
Curator_confirmed | WBPerson712 | ||||||||
Penetrance | Complete | Paper_evidence | WBPaper00040544 | ||||||
Curator_confirmed | WBPerson712 | ||||||||
EQ_annotations | Life_stage | WBls:0000008 | PATO:0000460 | Paper_evidence | WBPaper00040544 | ||||
Curator_confirmed | WBPerson712 | ||||||||
WBPhenotype:0001566 | Paper_evidence | WBPaper00005082 | |||||||
Curator_confirmed | WBPerson2021 | ||||||||
Remark | Hypodermis fails to enclose the embryo, and instead clumps together on the dorsal side of the embryo. | Paper_evidence | WBPaper00005082 | ||||||
Curator_confirmed | WBPerson2021 | ||||||||
Penetrance | Complete | Paper_evidence | WBPaper00005082 | ||||||
Curator_confirmed | WBPerson2021 | ||||||||
Range | 100 | 100 | Paper_evidence | WBPaper00005082 | |||||
Curator_confirmed | WBPerson2021 | ||||||||
Recessive | Paper_evidence | WBPaper00005082 | |||||||
Curator_confirmed | WBPerson2021 | ||||||||
EQ_annotations | Life_stage | WBls:0000003 | PATO:0000460 | Paper_evidence | WBPaper00005082 | ||||
Curator_confirmed | WBPerson2021 | ||||||||
Maternal | |||||||||
Reference | WBPaper00040544 | ||||||||
WBPaper00019801 | |||||||||
WBPaper00005082 | |||||||||
WBPaper00026143 | |||||||||
WBPaper00013342 | |||||||||
Method | Substitution_allele |