FB2026_01 , released March 12, 2026
FB2026_01 , released March 12, 2026
Allele: Hsap\KRT5UAS.cBa
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General Information
Symbol
Hsap\KRT5UAS.cBa
Species
H. sapiens
Name
UAS construct a of Bohnekamp
FlyBase ID
FBal0342180
Feature type
allele
Associated gene
Associated Insertion(s)
Carried in Construct
Key Links
Nature of the Allele
Progenitor genotype
Carried in construct
Cytology
Description

UASt regulates expression of full-length Hsap\KRT5 cDNA.

Allele components
Component
Use(s)
Encoded product / tool
Mutations Mapped to the Genome
Curation Data
Type
Location
Additional Notes
References
Variant Molecular Consequences
Associated Sequence Data
DNA sequence
Protein sequence
 
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 )
Modifiers Based on Experimental Evidence ( 0 )
Disease
Interaction
References
Comments on Models/Modifiers Based on Experimental Evidence ( 1 )
 

FlyBase curator comment: 'epidermolysis bullosa simplex' disease subtype 'epidermolysis bullosa simplex Dowling-Meara type' is associated with the 'R125C' mutation of the gene KRT14.

Disease-implicated variant(s)
 
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

Scer\GAL4Act5C.PU-driven co-expression of Hsap\KRT14WT.UAS/+, Hsap\KRT5UAS.cBa/+ is viable and individuals do not show any obvious phenotype, but co-expression of Hsap\KRT14WT.UAS/Hsap\KRT14WT.UAS, Hsap\KRT5UAS.cBa/Hsap\KRT5UAS.cBa is lethal.

Scer\GAL4Act5C.PU-driven co-expression of Hsap\KRT14R125C.UAS/+, Hsap\KRT5UAS.cBa/+ induces almost complete lethality and adult escapers exhibit wing defects, including blisters that are full with hemolymph and the abnormal retention of intervein cells, and structural functional wing heart defects, namely missing parts of the epithelium that prevent backflow of hemolymph leading to no net movement out of the wing. No wing heart development defects are observed until 30-35h after puparium formation, but immediately afterwards wing heart epithelial cell structures not directly attached to the muscle disintegrate.

Wing blisters are also observed upon co-expression of Hsap\KRT14R125C.UAS/Hsap\KRT14WT.UAS, Hsap\KRT5UAS.cBa/+, but not of Hsap\KRT14WT.UAS/Hsap\KRT14WT.UAS, Hsap\KRT5UAS.cBa/+. Scer\GAL4Act5C.PU-driven co-expression of Hsap\KRT14R125C.UAS/Hsap\KRT14WT.UAS, Hsap\KRT5UAS.cBa/Hsap\KRT5UAS.cBa induces lethality.

Adults co-expressing Hsap\KRT14R125P.UAS.YFP and Hsap\KRT5UAS.cBa under the control of Scer\GAL4Act5C.PU exhibit wing blisters that are full with hemolymph.

Scer\GAL4Hand.PA-driven co-expression of Hsap\KRT14R125C.UAS/+, Hsap\KRT5UAS.cBa/+ does not lead to any obvious phenotype.

Scer\GAL4pnr-MD237-driven co-expression of Hsap\KRT14R125C.UAS/+, Hsap\KRT5UAS.cBa/+ also leads to wing blistering and flightlessness.

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
Hsap\KRT5UAS.cBa
Hsap\KRT5UAS
Name Synonyms
UAS construct a of Bohnekamp
Secondary FlyBase IDs
    References (2)