FB2026_01 , released March 12, 2026
FB2026_01 , released March 12, 2026
Allele: Dmel\cacGR-R1664Q
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General Information
Symbol
Dmel\cacGR-R1664Q
Species
D. melanogaster
Name
FlyBase ID
FBal0338027
Feature type
allele
Associated gene
Dmel\cac
Associated Insertion(s)
Carried in Construct
PBac{GR-R1664Q}
Key Links
Transgenic product class
missense_variant
(Luo et al., 2017)
Mutagen
Nature of the Allele
Transgenic product class
missense_variant
(Luo et al., 2017)
Mutagen
in vitro construct
(Luo et al., 2017)
Progenitor genotype
Carried in construct
PBac{GR-R1664Q}
Cytology
Description

77kb clone that encompasses the entire 53kb genomic region of cac (plus some neighbouring genes). A mutation equivalent to the R1664Q variant identified in the human CACNA1A ortholog in individuals with severe early onset ataxia has been introduced into the cac coding region.

(Luo et al., 2017)
Allele components
Component
Use(s)
Regulatory region(s)
cac
Encoded product / tool
cac
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  hereditary ataxia
      CEA with cacF
      (Luo et al., 2017)
      CEA with cacJ
      (Luo et al., 2017)
      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.
      (Luo et al., 2017)
      CACNA1A:p.Arg1663Gln
      (FlyBase curators, 2019-)
      Variants Synonym(s)
      CACNA1A:p.Arg1666Gln
      CACNA1A:p.Arg1669Gln
      CACNA1A:p.Arg1664Gln
      Associated human disease model(s)
      External database links
      ClinVar: CACNA1A_68432
      Comments concerning this variant
      Phenotypic Data
      Phenotypic Class
      Phenotype Manifest In
      Detailed Description
      Statement
      Reference

      Wild-type flies carrying cacGR-R1664Q genomic fragment do not display any significant aberrations in their electroretinogram traces; no defects are observed even when combined with a single copy of either cacJ or cacF.

      (Luo et al., 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
      Fails to rescue

      cacGR-R1664Q fails to rescue cacF

      (Luo et al., 2017)

      cacGR-R1664Q fails to rescue cacJ

      (Luo et al., 2017)
      Comments

      The lethality of either cacF or cacJ mutants is partially rescued by combination with cacGR-R1664Q.

      The loss of 'on' and 'off' transients in electroretinogram traces from either cacF or cacJ mutant clone cells in the eye of 3-day-old flies is not suppressed by combination with cacGR-R1664Q. At 30 days of age, the transients loss is accompanied by decreased depolarization amplitude; both phenotypes can be ameliorated by cacGR-R1664Q in cacF mosaic flies but not in cacJ mosaics.

      The ultrastructural defects observed in cacF mutant photoreceptor cells at the level of lamina where they make connection with laminar neurons - expanded terminals, accumulation of autophagic vacuoles and signs of synaptic degeneration - are partially rescued in cacF;cacGR-R1664Q flies.

      (Luo et al., 2017)
      Images (0)
      Mutant
      Wild-type
      Stocks (1)
      Notes on Origin
      Discoverer
      External Crossreferences and Linkouts ( 0 )
      Synonyms and Secondary IDs (1)
      Reported As
      Symbol Synonym
      cacGR-R1664Q
      Name Synonyms
      Secondary FlyBase IDs
        References (2)