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General Information
Symbol
Dmel\eyaG594S.UAS.Tag:FLAG
Species
D. melanogaster
Name
FlyBase ID
FBal0179939
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:

G6528651A

Reported nucleotide change:

G?A

Amino acid change:

G600S | eya-PA; G594S | eya-PB; G510S | eya-PC

Reported amino acid change:

G594S

Comment:

Analogous mutation in human EYA1 implicated in branchiootorenal syndrome 1; mutation carried on in vitro construct.

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 a mutated form of eya (carries the amino acid replacement G594S) that is tagged at the N-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 G594S mutation is equivalent to the G426S mutation associated with branchiootorenal syndrome and ocular defects in humans. Eye defects are seen in flies when eyaG594S.Scer\UAS.T:Zzzz\FLAG is expressed in a eya2 mutant background.

Phenotypic Data
Phenotypic Class
Phenotype Manifest In
Detailed Description
Statement
Reference

Expression of eyaG594S.Scer\UAS.T:Zzzz\FLAG under the control of Scer\GAL4dpp.blk1 results in ectopic eye induction.

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

Expression of eyaG594S.Scer\UAS.T:Zzzz\FLAG under the control of Scer\GAL4dpp.blk1 significantly rescues eye tissue formation in eya2 flies. The recovered eye tissue is located more dorsally than normal and is almost always split into multiple independent eye fields.

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
eyaG594S.Scer\UAS.T:Zzzz\FLAG
eyaG594S.UAS.Tag:FLAG
Name Synonyms
Secondary FlyBase IDs
    References (3)