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General Information
Symbol
Hsap\ALKF1174L.UAS
Species
H. sapiens
Name
FlyBase ID
FBal0266007
Feature type
allele
Associated gene
Associated Insertion(s)
Carried in Construct
Also Known As
UAS-ALKF1174L, UAS-hALKF1174L
Key Links
Allele class
Nature of the Allele
Allele class
Mutations Mapped to the Genome
 
Type
Location
Additional Notes
References
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 mutated form of Hsap\ALK (amino acid replacement: F1174L). An 898bp fragment preceeding the translation start site has been removed to increase expression efficiency in Drosophila.

Amino acid replacement: F1174L.

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.
ALK:p.Phe1174Leu
Variants Synonym(s)
ALK:p.Phe106Leu
Associated human disease model(s)
External database links
Comments concerning this variant
Phenotypic Data
Phenotypic Class
Phenotype Manifest In
Detailed Description
Statement
Reference

Expression of Hsap\ALKF1174L.Scer\UAS under the control of Scer\GAL4GMR.PF results in a severe rough eye phenotype in the adults.

Expression of Hsap\ALKF1174L.Scer\UAS driven by Scer\GAL4GMR.PFa results in a fully penetrant rough eye phenotype.

Scer\GAL4GMR.PF-mediated expression strongly disrupts adult eye morphology.

Expression of Hsap\ALKF1174L.Scer\UAS under the control of Scer\GAL4GMR.PFa results in a rough eye phenotype. The regular hexagonal array of ommatidia is disorganised and many interommatidial bristles are missing.

Expression of Hsap\ALKF1174L.Scer\UAS under the control of Scer\GAL4GMR.PFa leads to severe morphological defects in both the third instar larval eye disc and the adult eye (small eyes with disrupted ommatidial lattice).

Expression of Hsap\ALKF1174L.Scer\UAS under the control of Scer\GAL4GMR.PFa results in a rough eye phenotype. The regular hexagonal arrangement of ommatidia is disrupted and many interommatidial bristles are missing.

Ectopic expression of the gain-of-function Hsap\ALKF1174L.Scer\UAS transgene in the developing eye, under the control of Scer\GAL4GMR.PFa, leads to the destruction of normal tissue morphology in the developing fly eye. The organization of the ommatidial units are clearly disrupted during third instar larval stages.

External Data
Interactions
Show genetic interaction network for Enhancers & Suppressors
Phenotypic Class
Phenotype Manifest In
NOT Enhanced by
NOT suppressed by
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 (4)
Reported As
Symbol Synonym
Hsap\ALKF1174L.Scer\UAS
Hsap\ALKF1174L.UAS
Name Synonyms
Secondary FlyBase IDs
    References (9)