FB2026_01 , released March 12, 2026
FB2026_01 , released March 12, 2026
Allele: Dmel\Kdm5A224T.Tag:HA
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General Information
Symbol
Dmel\Kdm5A224T.Tag:HA
Species
D. melanogaster
Name
FlyBase ID
FBal0404362
Feature type
allele
Associated gene
Dmel\Kdm5
Associated Insertion(s)
Carried in Construct
M{Kdm5-HA.A224T}
Key Links
Genomic Maps

Transgenic product class
missense_variant
(Yheskel et al., 2024)
Mutagen
Nature of the Allele
Transgenic product class
missense_variant
(Yheskel et al., 2024)
Mutagen
in vitro construct
(Yheskel et al., 2024)
Progenitor genotype
Carried in construct
M{Kdm5-HA.A224T}
Cytology
Description

An 11kb genomic fragment including Kdm5 with the A224T mutation; tagged at the 3' end with 3x-Tag:HA.

(Yheskel et al., 2024)
Allele components
Component
Use(s)
Regulatory region(s)
Kdm5
Encoded product / tool
Kdm5
Tagged with
Tag:HA
Mutations Mapped to the Genome
Curation Data
Type
Location
Additional Notes
References
point_mutation
2L:5,995,821..5,995,821 [-]
Nucleotide change:

G5995821A

Reported nucleotide change:

G?A

Amino acid change:

A224T | Kdm5-PA; A224T | Kdm5-PB; A224T | Kdm5-PC; A224T | Kdm5-PD; A224T | Kdm5-PE; A224T | Kdm5-PF

Reported amino acid change:

A224T

Comment:

Analogous mutation in human KDM5 implicated in intellectual disability, X-linked, syndromic, Claes-Jensen type; mutation carried on in vitro construct.

(Yheskel et al., 2024)
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 )
      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.
      (Yheskel et al., 2024)
      KDM5C:p.Ala77Thr
      (FlyBase curators, 2019-)
      Variants Synonym(s)
      Associated human disease model(s)
      External database links
      ClinVar: 9778
      Comments concerning this variant
      Phenotypic 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 (2)
      Reported As
      Symbol Synonym
      Kdm5A224T.Tag:HA
      Kdm5A224T
      (Yheskel et al., 2024)
      Name Synonyms
      Secondary FlyBase IDs
        References (2)