FB2026_01 , released March 12, 2026
FB2026_01 , released March 12, 2026
Allele: Dmel\Kdm5A512P.Tag:HA
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General Information
Symbol
Dmel\Kdm5A512P.Tag:HA
Species
D. melanogaster
Name
FlyBase ID
FBal0341386
Feature type
allele
Associated gene
Dmel\Kdm5
Associated Insertion(s)
Carried in Construct
M{Kdm5.A512P.HA}
Also Known As
Kdm5A512P
Key Links
Genomic Maps

Transgenic product class
missense_variant
(Zamurrad et al., 2018)
Mutagen
Nature of the Allele
Transgenic product class
missense_variant
(Zamurrad et al., 2018)
Mutagen
in vitro construct
(Zamurrad et al., 2018)
Progenitor genotype
Carried in construct
M{Kdm5.A512P.HA}
Cytology
Description

A lid genomic transgene including the lid promoter and the lid coding region harboring a mutation analogous to an intellectual disability-causing missense mutation in human KDM5C. It is tagged at the C-terminal with 3x-Tag:HA.

(Zamurrad et al., 2018)
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:5,994,815..5,994,815 [-]
Nucleotide change:

G5994815C

Amino acid change:

A512P | Kdm5-PA; A512P | Kdm5-PB; A512P | Kdm5-PC; A512P | Kdm5-PD; A512P | Kdm5-PE; A512P | Kdm5-PF

Reported amino acid change:

A512P

Comment:

Analogous A388P mutation in human KDM5C implicated in intellectual disability; mutation carried on in vitro construct; site of nucleotide substitution in fly gene inferred by FlyBase curator based on reported amino acid change.

(Zamurrad et al., 2018)
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  intellectual disability
      CEA
      (Zamurrad et al., 2018)
      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.
      (Zamurrad et al., 2018)
      KDM5C:p.Ala388Pro
      (FlyBase curators, 2019-)
      Variants Synonym(s)
      KDM5C:p.Ala321Pro
      KDM5C:p.Ala387Pro
      Associated human disease model(s)
      External database links
      ClinVar: KDM5C_9774
      Comments concerning this variant
      Phenotypic Data
      Phenotypic Class
      Phenotype Manifest In
      Detailed Description
      Statement
      Reference

      lidA512P.Tag:HA individuals show severe defects in learning and memory in an appetitive associative olfactory learning assay (at 5min and 9h) but show an apparently normal odor acuity and the expected preference to a sucrose solution over water. These individuals only very rarely show mushroom body neuropil morphology defects.

      (Zamurrad et al., 2018)
      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 (3)
      Reported As
      Symbol Synonym
      Kdm5A512P.Tag:HA
      Kdm5A512P
      (Yheskel et al., 2024)
      lidA512P.Tag:HA
      Name Synonyms
      Secondary FlyBase IDs
        References (3)