FB2026_01 , released March 12, 2026
FB2026_01 , released March 12, 2026
Allele: Hsap\CRXI138fs48.UAS.Tag:FLAG
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General Information
Symbol
Hsap\CRXI138fs48.UAS.Tag:FLAG
Species
H. sapiens
Name
FlyBase ID
FBal0268563
Feature type
allele
Associated gene
Hsap\CRX
Associated Insertion(s)
Carried in Construct
M{UAS-CRX.I138fs48.FLAG}
Key Links
Transgenic product class
inframe_deletion
(Terrell et al., 2012)
Mutagen
Nature of the Allele
Transgenic product class
inframe_deletion
(Terrell et al., 2012)
Mutagen
in vitro construct
(Terrell et al., 2012)
Progenitor genotype
Carried in construct
M{UAS-CRX.I138fs48.FLAG}
Cytology
Description

UAS regulatory sequences drive expression of a truncated form of Hsap\CRX which is tagged at the N-terminal end with Tag:FLAG.

(Terrell et al., 2012)
Allele components
Component
Use(s)
Regulatory region(s)
UAS
Encoded product / tool
Hsap\CRX
Tagged with
Tag:FLAG
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 )
      Disease
      Evidence
      References
      model of  retinal degeneration
      CEA with ocuvi
      (Terrell et al., 2012)
      CEA
      (Terrell et al., 2012)
      Modifiers Based on Experimental Evidence ( 0 )
      Disease
      Interaction
      References
      Comments on Models/Modifiers Based on Experimental Evidence ( 1 )
       

      The I138[fs48] mutation is associated with Leber congenital amaurosis in humans, though expression of Hsap\CRXI138fs48.Scer\UAS.T:Zzzz\FLAG is not stated to specifically model this retinopathy in D. melanogaster.

      (Terrell et al., 2012)
      Disease-implicated variant(s)
       
      This allele represents a human variant implicated in disease.
      (Terrell et al., 2012)
      CRX:p.Ile138fs
      (FlyBase curators, 2019-)
      Variants Synonym(s)
      CRX:p.Ile138, frameshift
      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
      Suppressor of
      Additional Comments
      Genetic Interactions
      Statement
      Reference
      Xenogenetic Interactions
      Statement
      Reference

      Expression of Hsap\CRXI138fs48.Scer\UAS.T:Zzzz\FLAG under the control of Scer\GAL4oc.1.6 largely rescues rhabdomere and ommatidial morphology in ocuvi flies.

      (Terrell et al., 2012)
      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\CRXI138fs48.Scer\UAS.T:Zzzz\FLAG
      Hsap\CRXI138fs48.UAS.Tag:FLAG
      I138fs48
      (Terrell et al., 2012)
      Name Synonyms
      Secondary FlyBase IDs
        References (2)