FB2026_01 , released March 12, 2026
FB2026_01 , released March 12, 2026
Allele: Hsap\KRT14R125C.UAS
Open Close
General Information
Symbol
Hsap\KRT14R125C.UAS
Species
H. sapiens
Name
FlyBase ID
FBal0342183
Feature type
allele
Associated gene
Hsap\KRT14
Associated Insertion(s)
Carried in Construct
P{UAS-hKRT14.R125C}
Key Links
Transgenic product class
missense_variant
(Bohnekamp et al., 2015)
Mutagen
Nature of the Allele
Transgenic product class
missense_variant
(Bohnekamp et al., 2015)
Mutagen
in vitro construct
(Bohnekamp et al., 2015)
Progenitor genotype
Carried in construct
P{UAS-hKRT14.R125C}
Cytology
Description

UASt regulates expression of full-length Hsap\KRT14 cDNA bearing a R125C mutation, which is causative for the most severe form of Epidermolysis Bullosa Simplex.

(Bohnekamp et al., 2015)
Allele components
Component
Use(s)
Regulatory region(s)
UASt
Encoded product / tool
Hsap\KRT14
Mutations Mapped to the Genome
Curation Data
Type
Location
Additional Notes
References
Variant Molecular Consequences
Associated Sequence Data
DDBJ / EMBL / GenBank
DNA sequence
Protein sequence
 
UniProtKB/Swiss-Prot
    UniProtKB/TrEMBL
      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.

      (Bohnekamp et al., 2015)
      Disease-implicated variant(s)
       
      This allele represents a human variant implicated in disease.
      (Bohnekamp et al., 2015)
      KRT14:p.Arg125Cys
      (FlyBase curators, 2019-)
      Variants Synonym(s)
      Associated human disease model(s)
      External database links
      ClinVar: KRT14_14612
      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

      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/+. Scer\GAL4Act5C.PU-driven co-expression of Hsap\KRT14R125C.UAS/Hsap\KRT14WT.UAS, Hsap\KRT5UAS.cBa/Hsap\KRT5UAS.cBa induces lethality.

      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.

      (Bohnekamp et al., 2015)
      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 (1)
      Reported As
      Symbol Synonym
      Hsap\KRT14R125C.UAS
      Name Synonyms
      Secondary FlyBase IDs
        References (2)