FB2026_01 , released March 12, 2026
FB2026_01 , released March 12, 2026
Allele: Dmel\crbC749W.UAS
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General Information
Symbol
Dmel\crbC749W.UAS
Species
D. melanogaster
Name
FlyBase ID
FBal0343124
Feature type
allele
Associated gene
Dmel\crb
Associated Insertion(s)
Carried in Construct
P{UAS-crb.C749W}
Key Links
Genomic Maps

Transgenic product class
missense_variant
(Pellikka and Tepass, 2017)
Mutagen
Nature of the Allele
Transgenic product class
missense_variant
(Pellikka and Tepass, 2017)
Mutagen
in vitro construct
(Pellikka and Tepass, 2017)
Progenitor genotype
Carried in construct
P{UAS-crb.C749W}
Cytology
Description

UAS regulates expression of full-length crb bearing a C749W missense mutation, which is equivalent to the C250W retinal disease-causing mutation in human CRB1.

(Pellikka and Tepass, 2017)
Allele components
Component
Use(s)
Regulatory region(s)
UAS
Encoded product / tool
crb
Mutations Mapped to the Genome
Curation Data
Type
Location
Additional Notes
References
point_mutation
3R:24,309,162..24,309,162 [+]
Nucleotide change:

C24309162G

Amino acid change:

C749W | crb-PA; C792W | crb-PB; C856W | crb-PC; C806W | crb-PD

Reported amino acid change:

C749W

Comment:

Analogous C250W mutation in human CRB1 implicated in retinitis pigmentosa 12; mutation carried on in vitro construct; site of nucleotide substitution in fly gene inferred by FlyBase curator based on reported amino acid change.

(Pellikka and Tepass, 2017)
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 ( 0 )
       
      Disease-implicated variant(s)
       
      This allele represents a human variant implicated in disease.
      (Pellikka and Tepass, 2017)
      CRB1:p.Cys250Trp
      (FlyBase curators, 2019-)
      Variants Synonym(s)
      CRB1:p.Cys181Trp
      Associated human disease model(s)
      External database links
      ClinVar: CRB1_99916
      Comments concerning this variant
      Phenotypic Data
      Phenotypic Class
      Phenotype Manifest In
      Detailed Description
      Statement
      Reference

      The expression of crbC749W.UAS under the control of Scer\GAL4ninaE.PTa does not lead to a significant overgrowth of the photoreceptor cell stalk membrane.

      One week of continuous light exposure (light stress) in crb11A22 mutants that also express crbC749W.UAS under the control of Scer\GAL4GMR.PU induces more severe photoreceptor cell defects, including occasional cell death, as compared to crb11A22 single mutants.

      (Pellikka and Tepass, 2017)
      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
      Partially rescues

      crbC749W.UAS/Scer\GAL4GMR.PU partially rescues crb11A22

      (Pellikka and Tepass, 2017)
      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
      crbC749W.UAS
      Name Synonyms
      Secondary FlyBase IDs
        References (2)