WormBase Tree Display for Variation: WBVar02153030
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WBVar02153030 | Name | Public_name | ca19 | |||||
---|---|---|---|---|---|---|---|---|
Sequence_details | SeqStatus | Pending_curation | ||||||
Origin | Species | Caenorhabditis elegans | ||||||
Strain | WBStrain00047807 | |||||||
WBStrain00047808 | ||||||||
Laboratory | JM | |||||||
Status | Live | |||||||
Affects | Gene | WBGene00002275 | ||||||
Interactor | WBInteraction000569490 | |||||||
Possibly_affects | WBGene00002275 | Remark | CGC_name lem-2 | |||||
Description | Phenotype | WBPhenotype:0000019 | Paper_evidence | WBPaper00059881 | ||||
Curator_confirmed | WBPerson712 | |||||||
Remark | both lem-2 mutations show a slightly lower pharyngeal pumping rate; once again, the ca19 phenotype is slightly more severe than that of the complete gene knockout. The slower pumping rates shown by both mutants agree with previous observations made with the lem-2(tm1582) allele (Barkan et al.2012). | Paper_evidence | WBPaper00059881 | |||||
Curator_confirmed | WBPerson712 | |||||||
Variation_effect | Antimorph_gain_of_function | Paper_evidence | WBPaper00059881 | |||||
Curator_confirmed | WBPerson712 | |||||||
Phenotype_assay | Strain | WBStrain00047808 | Paper_evidence | WBPaper00059881 | ||||
Curator_confirmed | WBPerson712 | |||||||
WBPhenotype:0000154 | Paper_evidence | WBPaper00059881 | ||||||
Curator_confirmed | WBPerson712 | |||||||
Remark | ca19 brood size is significantly lower than is the brood size of the complete lem-2 knockout, i.e., the ca19 phenotype is 'worse' than the null phenotype. Thus ca19 could be described as a mild antimorph (Muller 1932) and this antimorph classification will be explained and defended below. | Paper_evidence | WBPaper00059881 | |||||
Curator_confirmed | WBPerson712 | |||||||
Variation_effect | Antimorph_gain_of_function | Paper_evidence | WBPaper00059881 | |||||
Curator_confirmed | WBPerson712 | |||||||
Phenotype_assay | Strain | WBStrain00047808 | Paper_evidence | WBPaper00059881 | ||||
Curator_confirmed | WBPerson712 | |||||||
Reference | WBPaper00059881 | |||||||
Remark | [2020-06-24T00:27:19.538Z WBPerson712] New Variation: lem-2 micropublication Using the C. elegans lem-2 Gene to Reconstruct the Human LEMD2; Mutation Associated with Hutterite-type Cataract/Cardiomyopathy | Curator_confirmed | WBPerson712 | |||||
Method | Allele |