FB2024_03 , released June 25, 2024
Allele: Dmel\SceS77N.ScerFRT.gen
Open Close
General Information
Symbol
Dmel\SceS77N.Scer\FRT.gen
Species
D. melanogaster
Name
FlyBase ID
FBal0369073
Feature type
allele
Associated gene
Dmel\Sce
Associated Insertion(s)
Carried in Construct
PBac{(FRT.w+.UAS-GFP)Sce.S77N}
Key Links
Transgenic product class
missense_variant
(Luo et al., 2021)
Mutagen
Nature of the Allele
Transgenic product class
missense_variant
(Luo et al., 2021)
Mutagen
in vitro construct
(Luo et al., 2021)
Progenitor genotype
PBac{(FRT.w+.UAS-GFP)Sce}
(Luo et al., 2021)
Carried in construct
PBac{(FRT.w+.UAS-GFP)Sce.S77N}
Cytology
Description

A Sce genomic fragment comprising chr3R sequences 27680208-27683747 (Release 6), contained within a removable FRT cassette that also contains a " UAS:GFP " and w marker. A S77N mutation has been introduced, which is analogous to the p.S82N variant observed in "gnomAD" affecting the same residue as the p.R70H variant in human RNF2 that is associated with a neurodevelopmental disorder.

(Luo et al., 2021)
Allele components
Component
Use(s)
Regulatory region(s)
Sce
Encoded product / tool
Sce
Also carries
FRT
Mutations Mapped to the Genome
Curation Data
Type
Location
Additional Notes
References
Variant Molecular Consequences
Associated Sequence Data
DDBJ / EMBL / GenBank
DNA sequence
Protein sequence
 
UniProtKB/Swiss-Prot
    UniProtKB/TrEMBL
      Expression Data
      Reporter Expression
      Additional Information
      Statement
      Reference
       
      Marker for
      Reflects expression of
      Reporter construct used in assay
      Human Disease Associations
      Disease Ontology (DO) Annotations
      Models Based on Experimental Evidence ( 0 )
      Disease
      Evidence
      References
      Modifiers Based on Experimental Evidence ( 1 )
      Disease
      Interaction
      References
      ameliorates  Luo-Schoch-Yamamoto syndrome
      modeled by SceKO
      (Luo et al., 2021)
      modeled by Sce33M2, SceKO
      (Luo et al., 2021)
      Comments on Models/Modifiers Based on Experimental Evidence ( 0 )
       
      Disease-implicated variant(s)
       
      Phenotypic Data
      Phenotypic Class
      Phenotype Manifest In
      Detailed Description
      Statement
      Reference
      External Data
      Interactions
      Show genetic interaction network for Enhancers & Suppressors
      Phenotypic Class
      Phenotype Manifest In
      Additional Comments
      Genetic Interactions
      Statement
      Reference
      Xenogenetic Interactions
      Statement
      Reference
      Complementation and Rescue Data
      Comments
      Images (0)
      Mutant
      Wild-type
      Stocks (0)
      Notes on Origin
      Discoverer
      External Crossreferences and Linkouts ( 0 )
      Synonyms and Secondary IDs (1)
      Reported As
      Symbol Synonym
      SceS77N.Scer\FRT.gen
      Name Synonyms
      Secondary FlyBase IDs
        References (1)