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General Information
Symbol
Dmel\OcrlH469R.UAS.GFP
Species
D. melanogaster
Name
FlyBase ID
FBal0336687
Feature type
allele
Associated gene
Associated Insertion(s)
Carried in Construct
Key Links
Allele class
Nature of the Allele
Allele class
Mutations Mapped to the Genome
 
Type
Location
Additional Notes
References
Nucleotide change:

A1925832G

Reported nucleotide change:

A>G

Amino acid change:

H469R | Ocrl-PA; H469R | Ocrl-PB

Reported amino acid change:

H469R

Comment:

Analogous mutation in human OCRL implicated in Lowe oculocerebrorenal syndrome; 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

UAS regulatory sequences drive expression of a phosphatase-inactive form of Ocrl (carries the mutation H469R). This lesion is equivalent to a mutation associated with Lowe Syndrome in the human ortholog. The protein is tagged with GFP.

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 ( 0 )
Disease
Evidence
References
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.
OCRL:p.His524Arg
Variants Synonym(s)
OCRL:p.His525Arg
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

The dramatic increase in the number of circulating hemocytes observed in OcrlΔ3 mutant larvae cannot be rescued by Scer\GAL4He.PZ-driven expression of OcrlH469R.Scer\UAS.T:Avic\GFP.

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
OcrlH469R.Scer\UAS.T:Avic\GFP
OcrlH469R.UAS.GFP
Name Synonyms
Secondary FlyBase IDs
    References (2)