WormBase Tree Display for Variation: WBVar00088148
expand all nodes | collapse all nodes | view schema
WBVar00088148 | Evidence | Paper_evidence | WBPaper00004146 | ||||||
---|---|---|---|---|---|---|---|---|---|
Name | Public_name | ju41 | |||||||
Other_name | CE06730:p.Gln3563Ter | ||||||||
C01B7.6.1:c.10687C>T | |||||||||
HGVSg | CHROMOSOME_V:g.8806412G>A | ||||||||
Sequence_details | SMap | S_parent | Sequence | C01B7 | |||||
Flanking_sequences | aatggtccaagaattgttttccgttttatg | agtgtccattgtgcattcaacctattgaac | |||||||
Mapping_target | C01B7 | ||||||||
Type_of_mutation | Substitution | c | t | ||||||
SeqStatus | Sequenced | ||||||||
Variation_type | Allele | ||||||||
Origin | Species | Caenorhabditis elegans | |||||||
Strain | WBStrain00005362 | ||||||||
Laboratory | CZ | ||||||||
Status | Live | ||||||||
Affects | Gene | WBGene00004457 | |||||||
Transcript | C01B7.6.1 | VEP_consequence | stop_gained | ||||||
VEP_impact | HIGH | ||||||||
HGVSc | C01B7.6.1:c.10687C>T | ||||||||
HGVSp | CE06730:p.Gln3563Ter | ||||||||
cDNA_position | 10687 | ||||||||
CDS_position | 10687 | ||||||||
Protein_position | 3563 | ||||||||
Exon_number | 13/16 | ||||||||
Codon_change | Cag/Tag | ||||||||
Amino_acid_change | Q/* | ||||||||
Interactor | WBInteraction000556059 | ||||||||
Genetics | Interpolated_map_position | V | 1.61803 | ||||||
Description | Phenotype | WBPhenotype:0000436 | Paper_evidence | WBPaper00004146 | |||||
Curator_confirmed | WBPerson712 | ||||||||
Remark | Some SNT-1 puncta were larger than those in unc-5(e53) animals. | Paper_evidence | WBPaper00004146 | ||||||
Curator_confirmed | WBPerson712 | ||||||||
Recessive | Paper_evidence | WBPaper00004146 | |||||||
Curator_confirmed | WBPerson712 | ||||||||
Phenotype_assay | Genotype | unc-5(e53) | Paper_evidence | WBPaper00004146 | |||||
Curator_confirmed | WBPerson712 | ||||||||
WBPhenotype:0000962 | Paper_evidence | WBPaper00004146 | |||||||
Curator_confirmed | WBPerson712 | ||||||||
Remark | The total number of the synaptic vesicle SNB-1::GFP puncta was reduced, and regions along the dorsal and ventral nerve cords often contained no GFP puncta. The mutant GFP puncta patterns in animals were similar to ju23 and did not show obvious differences from 15C to 25C. In these mutants, the abnormally shaped GFP puncta of the DD neurons were more severe than those of the VD neurons. The mutant phenotypes of homozygous animals were less severe than those of mutant/Df (data not shown), suggesting that this allele is not a null mutation. | UNC-49B::GFP fluorescent puncta were clustered in some regions, while absent in others along the nerve cords. | Paper_evidence | WBPaper00004146 | ||||||
Curator_confirmed | WBPerson712 | ||||||||
Recessive | Paper_evidence | WBPaper00004146 | |||||||
Curator_confirmed | WBPerson712 | ||||||||
EQ_annotations | Anatomy_term | WBbt:0005270 | PATO:0000460 | Paper_evidence | WBPaper00004146 | ||||
Curator_confirmed | WBPerson712 | ||||||||
WBbt:0005303 | PATO:0000460 | Paper_evidence | WBPaper00004146 | ||||||
Curator_confirmed | WBPerson712 | ||||||||
Phenotype_assay | Genotype | sem-4(n1376); juIs1 | Paper_evidence | WBPaper00004146 | |||||
Curator_confirmed | WBPerson712 | ||||||||
WBPhenotype:0001321 | Paper_evidence | WBPaper00028886 | |||||||
Curator_confirmed | WBPerson48 | ||||||||
Remark | Based on visualization using a SNB-1::VENUS transgene. | Paper_evidence | WBPaper00028886 | ||||||
Curator_confirmed | WBPerson48 | ||||||||
WBPhenotype:0002479 | Paper_evidence | WBPaper00053323 | |||||||
Curator_confirmed | WBPerson9270 | ||||||||
Remark | Figure 7, length of regeneration increased after axotomy of the PLM neurons | Paper_evidence | WBPaper00053323 | ||||||
Curator_confirmed | WBPerson9270 | ||||||||
EQ_annotations | Anatomy_term | WBbt:0005490 | PATO:0000460 | Paper_evidence | WBPaper00053323 | ||||
Curator_confirmed | WBPerson9270 | ||||||||
GO_term | GO:0030424 | PATO:0000460 | Paper_evidence | WBPaper00053323 | |||||
Curator_confirmed | WBPerson9270 | ||||||||
Phenotype_not_observed | WBPhenotype:0000633 | Paper_evidence | WBPaper00053323 | ||||||
Curator_confirmed | WBPerson9270 | ||||||||
EQ_annotations | GO_term | GO:0030424 | PATO:0000460 | Paper_evidence | WBPaper00053323 | ||||
Curator_confirmed | WBPerson9270 | ||||||||
WBPhenotype:0000680 | Paper_evidence | WBPaper00004146 | |||||||
Curator_confirmed | WBPerson712 | ||||||||
Remark | Animals showed the same sensitivity to aldicarb as wild-type animals. | Paper_evidence | WBPaper00004146 | ||||||
Curator_confirmed | WBPerson712 | ||||||||
WBPhenotype:0002364 | Paper_evidence | WBPaper00053323 | |||||||
Curator_confirmed | WBPerson9270 | ||||||||
EQ_annotations | GO_term | GO:0030424 | PATO:0000460 | Paper_evidence | WBPaper00053323 | ||||
Curator_confirmed | WBPerson9270 | ||||||||
Reference | WBPaper00028886 | ||||||||
WBPaper00004146 | |||||||||
WBPaper00053323 | |||||||||
Method | Substitution_allele |