FB2025_01 , released February 20, 2025
Allele: Dmel\Cnx99A1
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General Information
Symbol
Dmel\Cnx99A1
Species
D. melanogaster
Name
FlyBase ID
FBal0265973
Feature type
allele
Associated gene
Dmel\Cnx99A
Associated Insertion(s)
Carried in Construct
Also Known As
cnx1
Key Links
Genomic Maps

Allele class

amorphic allele - molecular evidence

Mutagen
Nature of the Allele
Allele class

amorphic allele - molecular evidence

(Rosenbaum et al., 2006)
Mutagen
ethyl methanesulfonate
(Rosenbaum et al., 2006)
Progenitor genotype
Cytology
Description

Mutants display severely reduced levels of Cnx99A transcript and no Cnx99A protein.

(Rosenbaum et al., 2006)

Nucleotide substitution: C544T.

(Rosenbaum et al., 2006)

Amino acid replacement: Q182term.

(Rosenbaum et al., 2006)
Mutations Mapped to the Genome
Curation Data
Type
Location
Additional Notes
References
point_mutation
3R:29,318,080..29,318,080 [-]
Nucleotide change:

C29318080T

Reported nucleotide change:

C544T

Amino acid change:

Q182term | Cnx99A-PA; Q182term | Cnx99A-PB; Q182term | Cnx99A-PD; Q182term | Cnx99A-PE

Reported amino acid change:

Q182term

(Rosenbaum et al., 2006)
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 ( 0 )
      Disease
      Evidence
      References
      Modifiers Based on Experimental Evidence ( 0 )
      Disease
      Interaction
      References
      Comments on Models/Modifiers Based on Experimental Evidence ( 0 )
       
      Disease-implicated variant(s)
       
      Phenotypic Data
      Phenotypic Class
      Phenotype Manifest In
      Detailed Description
      Statement
      Reference

      Mutants display age-related retinal degeneration. Photoreceptor cells in 1-day-old mutants display diminished rhabdomere size, accumulation of rough ER membranes and dilated Golgi. At 1 month, mutants display a dramatic loss of rhabdomeres in the R1-6 photoreceptor cells, while R7 and R8 rhabdomeres remain. Mutants raised in constant darkness display a less severe retinal degeneration phenotype compared to those grown on a 12:12 hour light:dark cycle.

      Macroscopic responses of Cnx99A1 photoreceptors (from dissociated ommatidia) to brief test flashes and modest light steps are greatly reduced in sensitivity compared to wild type.

      (Rosenbaum et al., 2006)
      External Data
      Interactions
      Show genetic interaction network for Enhancers & Suppressors
      Phenotypic Class
      Phenotype Manifest In
      Suppressed by
      Statement
      Reference

      Cnx99A1 has retina | conditional phenotype, suppressible by norpAP24

      (Rosenbaum et al., 2006)
      Additional Comments
      Genetic Interactions
      Statement
      Reference

      Inclusion of norpA36 slows down the onset and progression of retinal degeneration in Cnx99A1 mutants.

      (Rosenbaum et al., 2006)
      Xenogenetic Interactions
      Statement
      Reference
      Complementation and Rescue Data
      Comments
      Images (0)
      Mutant
      Wild-type
      Stocks (1)
      Notes on Origin
      Discoverer
      External Crossreferences and Linkouts ( 0 )
      Synonyms and Secondary IDs (3)
      Reported As
      Symbol Synonym
      Cnx99A1
      cnx99A1
      (Rosenbaum et al., 2006)
      cnx1
      (Satoh et al., 2015, Rosenbaum et al., 2011, Rosenbaum et al., 2006)
      Name Synonyms
      Secondary FlyBase IDs
        References (3)