WormBase Tree Display for Variation: WBVar00143044
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| WBVar00143044 | Evidence | Paper_evidence | WBPaper00006063 | ||||||
|---|---|---|---|---|---|---|---|---|---|
| WBPaper00005177 | |||||||||
| Name | Public_name | e224 | |||||||
| Other_name | F46E10.9.1:c.227G>A | ||||||||
| F46E10.9.2:c.227G>A | |||||||||
| CE20819:p.Gly76Glu | |||||||||
| HGVSg | CHROMOSOME_V:g.6512793C>T | ||||||||
| Sequence_details | SMap | S_parent | Sequence | F46E10 | |||||
| Flanking_sequences | actggtctgatgatcttggaatcaaggttg | agaagtcgatgttaccgtcaatccaggact | |||||||
| Mapping_target | F46E10 | ||||||||
| Type_of_mutation | Substitution | g | a | ||||||
| SeqStatus | Sequenced | ||||||||
| Variation_type | Allele | ||||||||
| Origin | Species | Caenorhabditis elegans | |||||||
| Strain | WBStrain00000374 | ||||||||
| WBStrain00000484 | |||||||||
| WBStrain00000489 | |||||||||
| WBStrain00000532 | |||||||||
| WBStrain00000533 | |||||||||
| WBStrain00000534 | |||||||||
| WBStrain00000598 | |||||||||
| WBStrain00000599 | |||||||||
| WBStrain00000600 | |||||||||
| WBStrain00000601 | |||||||||
| WBStrain00000602 | |||||||||
| WBStrain00000603 | |||||||||
| WBStrain00000604 | |||||||||
| WBStrain00000607 | |||||||||
| WBStrain00000608 | |||||||||
| WBStrain00000609 | |||||||||
| WBStrain00000610 | |||||||||
| WBStrain00000631 | |||||||||
| WBStrain00000632 | |||||||||
| WBStrain00000633 | |||||||||
| WBStrain00000634 | |||||||||
| WBStrain00000637 | |||||||||
| WBStrain00000638 | |||||||||
| WBStrain00000639 | |||||||||
| WBStrain00000640 | |||||||||
| WBStrain00000641 | |||||||||
| WBStrain00000661 | |||||||||
| WBStrain00003994 | |||||||||
| WBStrain00004002 | |||||||||
| WBStrain00004130 | |||||||||
| WBStrain00004365 | |||||||||
| WBStrain00004367 | |||||||||
| WBStrain00004374 | |||||||||
| WBStrain00004379 | |||||||||
| WBStrain00004386 | |||||||||
| WBStrain00004400 | |||||||||
| WBStrain00004497 | |||||||||
| WBStrain00004547 | |||||||||
| WBStrain00004567 | |||||||||
| WBStrain00004944 | |||||||||
| WBStrain00004946 | |||||||||
| WBStrain00004960 | |||||||||
| WBStrain00004964 | |||||||||
| WBStrain00004970 | |||||||||
| WBStrain00004993 | |||||||||
| WBStrain00005001 | |||||||||
| WBStrain00005004 | |||||||||
| WBStrain00005458 | |||||||||
| WBStrain00005874 | |||||||||
| WBStrain00006189 | |||||||||
| WBStrain00006195 | |||||||||
| WBStrain00006196 | |||||||||
| WBStrain00006197 | |||||||||
| WBStrain00006211 | |||||||||
| WBStrain00006212 | |||||||||
| WBStrain00006218 | |||||||||
| WBStrain00006234 | |||||||||
| WBStrain00006235 | |||||||||
| WBStrain00006250 | |||||||||
| WBStrain00006666 | |||||||||
| WBStrain00007493 | |||||||||
| WBStrain00007745 | |||||||||
| WBStrain00007773 | |||||||||
| WBStrain00007982 | |||||||||
| WBStrain00008000 | |||||||||
| WBStrain00008001 | |||||||||
| WBStrain00008003 | |||||||||
| WBStrain00008004 | |||||||||
| WBStrain00008276 | |||||||||
| WBStrain00008414 | |||||||||
| WBStrain00022203 | |||||||||
| WBStrain00022204 | |||||||||
| WBStrain00022205 | |||||||||
| WBStrain00022475 | |||||||||
| WBStrain00022581 | |||||||||
| WBStrain00022601 | |||||||||
| WBStrain00022763 | |||||||||
| WBStrain00023813 | |||||||||
| WBStrain00024119 | |||||||||
| WBStrain00026734 | |||||||||
| WBStrain00026769 | |||||||||
| WBStrain00026886 | |||||||||
| WBStrain00026980 | |||||||||
| WBStrain00026981 | |||||||||
| WBStrain00026982 | |||||||||
| WBStrain00026983 | |||||||||
| WBStrain00027012 | |||||||||
| WBStrain00027135 | |||||||||
| WBStrain00027611 | |||||||||
| WBStrain00029050 | |||||||||
| WBStrain00029138 | |||||||||
| WBStrain00029139 | |||||||||
| WBStrain00029140 | |||||||||
| WBStrain00029456 | |||||||||
| WBStrain00029464 | |||||||||
| WBStrain00030581 | |||||||||
| WBStrain00031248 | |||||||||
| WBStrain00031249 | |||||||||
| WBStrain00033526 | |||||||||
| WBStrain00034134 | |||||||||
| WBStrain00034200 | |||||||||
| WBStrain00034360 | |||||||||
| WBStrain00034440 | |||||||||
| WBStrain00034446 | |||||||||
| WBStrain00034447 | |||||||||
| WBStrain00034448 | |||||||||
| WBStrain00034455 | |||||||||
| WBStrain00034456 | |||||||||
| WBStrain00034712 | |||||||||
| WBStrain00035101 | |||||||||
| WBStrain00035709 | |||||||||
| WBStrain00040642 | |||||||||
| WBStrain00050644 | |||||||||
| WBStrain00050645 | |||||||||
| WBStrain00051662 | |||||||||
| WBStrain00051663 | |||||||||
| WBStrain00051664 | |||||||||
| WBStrain00051665 | |||||||||
| WBStrain00051666 | |||||||||
| WBStrain00051667 | |||||||||
| WBStrain00051671 | |||||||||
| WBStrain00051672 | |||||||||
| WBStrain00051673 | |||||||||
| WBStrain00051675 | |||||||||
| WBStrain00051676 | |||||||||
| WBStrain00051677 | |||||||||
| WBStrain00051681 | |||||||||
| WBStrain00051682 | |||||||||
| WBStrain00051683 | |||||||||
| WBStrain00051684 | |||||||||
| Laboratory | CB | ||||||||
| Status | Live | ||||||||
| Affects | Gene | WBGene00001073 | |||||||
| Transcript | F46E10.9.2 (12) | ||||||||
| F46E10.9.1 (12) | |||||||||
| Interactor (14) | |||||||||
| Genetics | Interpolated_map_position | V | -0.00724445 | ||||||
| Mapping_data | In_2_point (85) | ||||||||
| In_multi_point (181) | |||||||||
| In_pos_neg_data (12) | |||||||||
| Description | Phenotype | WBPhenotype:0000070 | Paper_evidence | WBPaper00005747 | |||||
| Curator_confirmed | WBPerson2987 | ||||||||
| Remark | Table 1; "The point-mutant dpy-11(e224) results in a partial-loss-of-function mutation, characterized by a medium Dpy phenotype and additional male tail-specific morphologic defects." | Paper_evidence | WBPaper00005747 | ||||||
| Curator_confirmed | WBPerson2987 | ||||||||
| Phenotype_assay | Genotype | kaIs12 [col-19::gfp] | Paper_evidence | WBPaper00005747 | |||||
| Curator_confirmed | WBPerson2987 | ||||||||
| WBPhenotype:0000199 | Paper_evidence | WBPaper00001328 | |||||||
| Curator_confirmed | WBPerson712 | ||||||||
| Remark | The temperature sensitive period for the Ram defect was mid-to late L4 coincident with tail retraction. | Paper_evidence | WBPaper00001328 | ||||||
| Curator_confirmed | WBPerson712 | ||||||||
| EQ_annotations | Anatomy_term | WBbt:0006941 | PATO:0000460 | Paper_evidence | WBPaper00001328 | ||||
| Curator_confirmed | WBPerson712 | ||||||||
| WBbt:0005741 | PATO:0000460 | Paper_evidence | WBPaper00001328 | ||||||
| Curator_confirmed | WBPerson712 | ||||||||
| Life_stage | WBls:0000073 | PATO:0000460 | Paper_evidence | WBPaper00001328 | |||||
| Curator_confirmed | WBPerson712 | ||||||||
| Temperature_sensitive | Heat_sensitive | 25 | Paper_evidence | WBPaper00001328 | |||||
| Curator_confirmed | WBPerson712 | ||||||||
| Phenotype_assay (2) | |||||||||
| WBPhenotype:0000231 | Paper_evidence | WBPaper00001328 | |||||||
| Curator_confirmed | WBPerson712 | ||||||||
| Phenotype_assay (2) | |||||||||
| WBPhenotype:0000424 | Paper_evidence | WBPaper00005747 | |||||||
| Curator_confirmed | WBPerson2987 | ||||||||
| Remark | "TP12:kaIs(col-19::gfp) and CB224(dpy-11) nematodes were crossed to produce the strain TP16:dpy-11(e224)V;kaIs12(col-19::gfp) that exhibited irregular COL-19::GFP patterns similar but not identical to that of TP14:dpy-5(e61)I;kaIs12(col-19 ::gfp) in which annuli in the dorsal/ ventral hypodermally derived cuticle appeared as a regular, although slightly constricted pattern of bands, again consistent with the Dpy appearance (Fig. 3G,H, denoted an). Similar to dpy-5 mutants, in these dpy-11 mutant animals COL-19::GFP expression in the cuticle overlying the noncontracted seam cell cords was abnormal with annuli appearing branched, prematurely terminated, and occasionally absent, a pattern reflected in the fragmented and branched DPY-7 collagen pattern after antibody staining (Fig. 3H, doubleheaded arrow region)." | Paper_evidence | WBPaper00005747 | ||||||
| Curator_confirmed | WBPerson2987 | ||||||||
| Phenotype_assay | Genotype | kaIs12 [col-19::gfp] | Paper_evidence | WBPaper00005747 | |||||
| Curator_confirmed | WBPerson2987 | ||||||||
| WBPhenotype:0000505 | Paper_evidence | WBPaper00001328 | |||||||
| Person_evidence | WBPerson261 | ||||||||
| Curator_confirmed | WBPerson712 | ||||||||
| Remark | Homozygous Ram. Males are not Ram at 16C. | Paper_evidence | WBPaper00001328 | ||||||
| Curator_confirmed | WBPerson712 | ||||||||
| Males Ram (lumpy rays) at 25C. | Person_evidence | WBPerson261 | |||||||
| Curator_confirmed | WBPerson712 | ||||||||
| EQ_annotations | Anatomy_term | WBbt:0006941 | PATO:0000460 | Paper_evidence | WBPaper00001328 | ||||
| Curator_confirmed | WBPerson712 | ||||||||
| Life_stage | WBls:0000056 | PATO:0000460 | Paper_evidence | WBPaper00001328 | |||||
| Curator_confirmed | WBPerson712 | ||||||||
| Temperature_sensitive | Heat_sensitive | 25 | Paper_evidence | WBPaper00001328 | |||||
| Person_evidence | WBPerson261 | ||||||||
| Curator_confirmed | WBPerson712 | ||||||||
| Phenotype_assay (2) | |||||||||
| WBPhenotype:0000583 | Paper_evidence | WBPaper00000465 | |||||||
| WBPaper00001474 | |||||||||
| WBPaper00005747 | |||||||||
| Person_evidence | WBPerson261 | ||||||||
| Curator_confirmed | WBPerson712 | ||||||||
| WBPerson2987 | |||||||||
| Remark | medium dumpy, easy to score (ES3) in adult, difficult to score (ES2) in larvae. Males Ram (lumpy rays) at25C. | Person_evidence | WBPerson261 | ||||||
| Curator_confirmed | WBPerson712 | ||||||||
| Authors report "medium dpy" (Table 1); "The point-mutant dpy-11(e224) results in a partial-loss-of-function mutation, characterized by a medium Dpy phenotype and additional male tail-specific morphologic defects... When examined at the SEM level, dpy-11(e224) nematodes were particularly Dpy at the mid-body and tail regions and the alae are bifurcated and branched (Fig. 3F, denoted by double-headed arrows)." | Paper_evidence | WBPaper00005747 | |||||||
| Curator_confirmed | WBPerson2987 | ||||||||
| Phenotype_assay | Genotype | kaIs12 [col-19::gfp] | Paper_evidence | WBPaper00005747 | |||||
| Curator_confirmed | WBPerson2987 | ||||||||
| Ease_of_scoring | ES3_Easy_to_score | Person_evidence | WBPerson261 | ||||||
| Curator_confirmed | WBPerson712 | ||||||||
| WBPhenotype:0000961 | Paper_evidence | WBPaper00005747 | |||||||
| Curator_confirmed | WBPerson2987 | ||||||||
| Remark | "TP12:kaIs(col-19::gfp) and CB224(dpy-11) nematodes were crossed to produce the strain TP16:dpy-11(e224)V;kaIs12(col-19::gfp) that exhibited irregular COL-19::GFP patterns similar but not identical to that of TP14:dpy-5(e61)I;kaIs12(col-19 ::gfp) in which annuli in the dorsal/ ventral hypodermally derived cuticle appeared as a regular, although slightly constricted pattern of bands, again consistent with the Dpy appearance (Fig. 3G,H, denoted an). Similar to dpy-5 mutants, in these dpy-11 mutant animals COL-19::GFP expression in the cuticle overlying the noncontracted seam cell cords was abnormal with annuli appearing branched, prematurely terminated, and occasionally absent, a pattern reflected in the fragmented and branched DPY-7 collagen pattern after antibody staining (Fig. 3H, doubleheaded arrow region)." | Paper_evidence | WBPaper00005747 | ||||||
| Curator_confirmed | WBPerson2987 | ||||||||
| Phenotype_assay | Genotype | kaIs12 [col-19::gfp] | Paper_evidence | WBPaper00005747 | |||||
| Curator_confirmed | WBPerson2987 | ||||||||
| WBPhenotype:0001412 | Paper_evidence | WBPaper00005747 | |||||||
| Curator_confirmed | WBPerson2987 | ||||||||
| Remark | Authors report "abnormal branched ala" (Table 1); "When examined at the SEM level, dpy-11(e224) nematodes were particularly Dpy at the mid-body and tail regions and the alae are bifurcated and branched (Fig. 3F, denoted by double-headed arrows)... Lateral ala are present, as depicted with COL-19::GFP and Nomarski, but unlike dpy-5 mutants, in many regions the alae are abnormal, commonly having an unusual bifurcated (Fig. 3G, arrowed) or broken appearance (Fig. 3J, arrowed)." | Paper_evidence | WBPaper00005747 | ||||||
| Curator_confirmed | WBPerson2987 | ||||||||
| Phenotype_assay | Genotype | kaIs12 [col-19::gfp] | Paper_evidence | WBPaper00005747 | |||||
| Curator_confirmed | WBPerson2987 | ||||||||
| WBPhenotype:0001517 | Paper_evidence | WBPaper00005747 | |||||||
| Curator_confirmed | WBPerson2987 | ||||||||
| Remark | Authors report "abnormal branched annuli (lateral hypodermis)" (Table 1) | Paper_evidence | WBPaper00005747 | ||||||
| Curator_confirmed | WBPerson2987 | ||||||||
| Phenotype_assay | Genotype | kaIs12 [col-19::gfp] | Paper_evidence | WBPaper00005747 | |||||
| Curator_confirmed | WBPerson2987 | ||||||||
| Phenotype_not_observed | WBPhenotype:0000648 | Paper_evidence | WBPaper00001328 | ||||||
| Curator_confirmed | WBPerson712 | ||||||||
| Remark | Ray function was not severely disrupted by the morphological defects as most Ram males mated efficiently | Paper_evidence | WBPaper00001328 | ||||||
| Curator_confirmed | WBPerson712 | ||||||||
| EQ_annotations | Life_stage | WBls:0000056 | PATO:0000460 | Paper_evidence | WBPaper00001328 | ||||
| Curator_confirmed | WBPerson712 | ||||||||
| Phenotype_assay (2) | |||||||||
| WBPhenotype:0000695 | Paper_evidence | WBPaper00001328 | |||||||
| Curator_confirmed | WBPerson712 | ||||||||
| EQ_annotations | Anatomy_term | WBbt:0006748 | PATO:0000460 | Paper_evidence | WBPaper00001328 | ||||
| Curator_confirmed | WBPerson712 | ||||||||
| Life_stage | WBls:0000057 | PATO:0000460 | Paper_evidence | WBPaper00001328 | |||||
| Curator_confirmed | WBPerson712 | ||||||||
| Phenotype_assay (2) | |||||||||
| WBPhenotype:0001426 | Paper_evidence | WBPaper00004883 | |||||||
| Curator_confirmed | WBPerson712 | ||||||||
| Phenotype_assay | Genotype | arIs37 | Paper_evidence | WBPaper00004883 | |||||
| Curator_confirmed | WBPerson712 | ||||||||
| Reference (19) | |||||||||
| Remark | Variation stub/paper connection generated from the May 2021 NN VFP dataset. | ||||||||
| Created by WBPerson51134 from the NN_VFP_triage_pipeline | |||||||||
| Method | Substitution_allele |
