FB2026_01 , released March 12, 2026
FB2026_01 , released March 12, 2026
Allele: Dmel\bnlE324K.UAS.cOa
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General Information
Symbol
Dmel\bnlE324K.UAS.cOa
Species
D. melanogaster
Name
FlyBase ID
FBal0391658
Feature type
allele
Associated gene
Dmel\bnl
Associated Insertion(s)
Carried in Construct
P{UAS-bnl.E324K}
Key Links
Genomic Maps

Transgenic product class
missense_variant
(Ohori et al., 2023)
Mutagen
Nature of the Allele
Transgenic product class
missense_variant
(Ohori et al., 2023)
Mutagen
in vitro construct
(Ohori et al., 2023)
Progenitor genotype
Carried in construct
P{UAS-bnl.E324K}
Cytology
Description

UAS regulates expression of bnl bearing a Glu324Lys mutation, which is equivalent to Glu87Lys in Hsap\FGF12 as found in a patient with developmental and epileptic encephalopathy.

(Ohori et al., 2023)
Allele components
Component
Use(s)
Regulatory region(s)
UAS
Encoded product / tool
bnl
Mutations Mapped to the Genome
Curation Data
Type
Location
Additional Notes
References
point_mutation
3R:19,797,502..19,797,502 [-]
Nucleotide change:

G19797502A

Reported nucleotide change:

G?A

Amino acid change:

E324K | bnl-PA; E324K | bnl-PC; E324K | bnl-PD

Reported amino acid change:

E324K

Comment:

Analogous mutation in human FGF12 implicated in developmental and epileptic encephalopathy 47; mutation carried on in vitro construct.

(Ohori et al., 2023)
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  developmental and epileptic encephalopathy 47
      CEC
      (Ohori et al., 2023)
      Modifiers Based on Experimental Evidence ( 0 )
      Disease
      Interaction
      References
      Comments on Models/Modifiers Based on Experimental Evidence ( 0 )
       
      Disease-implicated variant(s)
       
      This allele represents a human variant implicated in disease.
      (Ohori et al., 2023)
      FGF12:p.Glu149Lys
      (FlyBase curators, 2019-)
      Variants Synonym(s)
      FGF12:p.Glu87Lys
      Associated human disease model(s)
      External database links
      Comments concerning this variant
      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
      bnlE324K.UAS.cOa
      Name Synonyms
      Secondary FlyBase IDs
        References (2)