FB2026_01 , released March 12, 2026
FB2026_01 , released March 12, 2026
Allele: Dmel\sgllKI.hPNPO.R95H
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General Information
Symbol
Dmel\sgllKI.hPNPO.R95H
Species
D. melanogaster
Name
FlyBase ID
FBal0373265
Feature type
allele
Associated gene
Dmel\sgll
Associated Insertion(s)
TI{TI}sgllKI.hPNPO.R95H
Carried in Construct
Key Links
Allele class
Mutagen
Nature of the Allele
Allele class
Mutagen
CRISPR/Cas9
(Chi et al., 2022)
gene targeting by homologous recombination
(Chi et al., 2022)
Progenitor genotype
Associated Insertion(s)
TI{TI}sgllKI.hPNPO.R95H
Cytology
Description

The coding sequence of the endogenous sgll-RB isoform has been deleted, and cDNA sequence encoding the orthologous Hsap\PNPO gene has been inserted in its place. The Hsap\PNPO coding sequence contains a G284A nucleotide substitution, corresponding to the R95H amino acid replacement, a variant associated with epilepsy.

(Chi et al., 2022)
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 ( 1 )
      Disease
      Evidence
      References
      model of  pyridoxamine 5'-phosphate oxidase deficiency
      CEA
      (Chi et al., 2022)
      Modifiers Based on Experimental Evidence ( 0 )
      Disease
      Interaction
      References
      Comments on Models/Modifiers Based on Experimental Evidence ( 0 )
       
      Disease-implicated variant(s)
       
      Phenotypic Data
      Phenotypic Class
      Phenotype Manifest In
      Detailed Description
      Statement
      Reference

      sgllKI.hPNPO.D33V/sgllKI.hPNPO.R95H, sgllKI.hPNPO.R116Q/sgllKI.hPNPO.R95H and sgllKI.hPNPO.WT/sgllKI.hPNPO.R95H adults show increased susceptibility (mortality) to sugar-only diet.

      sgllKI.hPNPO.D33V/sgllKI.hPNPO.R95H adults show hypoactivity (e.g. decreased walking distance and speed) under a FB or CYM conventional diet. These adults also show hypoactivity under a sugar-only diet if preceded by a FB, but not CYM, conventional diet. Under a sugar-only diet, dorsal longitudinal muscles show spontaneous seizure activity, manifested as high-frequency spike burst discharges.

      sgllKI.hPNPO.WT/sgllKI.hPNPO.R95H adults show hyperactivity (e.g. increased walking distance and speed) under a CYM or FB conventional diet. These adults also show hyperactivity (e.g. increased walking distance and speed) under a sugar-only diet if preceded by a FB, but not CYM, conventional diet. They also show higher susceptibility to high-frequency electrical stimulation-induced seizures than controls.

      (Chi et al., 2022)
      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
      sgllKI.hPNPO.R95H
      Name Synonyms
      Secondary FlyBase IDs
        References (1)