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General Information
Symbol
Dmel\Gcn5F304S.UAS.Tag:FLAG
Species
D. melanogaster
Name
FlyBase ID
FBal0344779
Feature type
allele
Associated gene
Associated Insertion(s)
Carried in Construct
Allele class
Nature of the Allele
Allele class
Mutations Mapped to the Genome
 
Type
Location
Additional Notes
References
point mutation
Nucleotide change:

T12522993C

Amino acid change:

F304S | Gcn5-PA

Comment:

Analogous F307S mutation in human KAT2B implicated in intellectual disability, syndromic, with renal and cardiac dysfunction; mutation carried on in vitro construct; site of nucleotide substitution in fly gene inferred by FlyBase curator based on reported amino acid change.

Associated Sequence Data
DNA sequence
Protein sequence
 
 
Progenitor genotype
Carried in construct
Cytology
Nature of the lesion
Statement
Reference

UASt regulatory sequences drive expression of Gcn5 that has been mutated to contain the F304S amino acid replacement (this is equivalent to the F307S mutation in the human Hsap\KAT2B ortholog; F307S is a potentially damaging mutation found to be segregating with the disease phenotype in a family with intellectual disability, microcephaly, cardiomyopathy and steroid-resistant nephrotic syndrome). The coding sequence is tagged at the C-terminal end with Tag:FLAG.

Allele components
Product class / Tool use(s)
Encoded product / tool
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
Modifiers Based on Experimental Evidence ( 0 )
Disease
Interaction
References
Comments on Models/Modifiers Based on Experimental Evidence ( 1 )
 

The disease model involves expression of Gcn5F304S.UAS.Tag:FLAG in a Gcn5E333st/Y hemizygous background.

Phenotypic Data
Phenotypic Class
Phenotype Manifest In
Detailed Description
Statement
Reference

Gcn5E333st/Df(3L)sex204 transheterozygotes rescued to adulthood by the expression of Gcn5F304S.UAS.Tag:FLAG under the control of Scer\GAL4da.G32 are flightless and exhibit fully penetrant blistered wing and small, mildly rough eye phenotypes, and exhibit frequent leg morphology defects. They show cardiac defects: significant decreases in cardiac output, diastolic diameter and fractional shortening, and significant increases in heart period and arrhythmia index. They also show abnormally-shaped pericardial nephrocytes.

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

Expressing Gcn5F304S.UAS.Tag:FLAG under the control of either Scer\GAL4da.G32 or Scer\GAL4αTub84B.PL partially rescues the full lethality of Gcn5E333st/Df(3L)sex204, giving rise to only a few adults that die a few days after eclosion (Scer\GAL4da.G32), or to nearly half of the expected adult progeny (Scer\GAL4αTub84B.PL).

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
Gcn5F304S.UAS.Tag:FLAG
Name Synonyms
Secondary FlyBase IDs
    References (2)