FB2024_03 , released June 25, 2024
Allele: Dmel\BicC1
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General Information
Symbol
Dmel\BicC1
Species
D. melanogaster
Name
FlyBase ID
FBal0001135
Feature type
allele
Associated gene
Dmel\BicC
Associated Insertion(s)
Carried in Construct
Also Known As
BicCIIF34, Bic-CIIF34
Key Links
Allele class
Mutagen
Nature of the Allele
Allele class
Mutagen
ethyl methanesulfonate
(Ashburner et al., 1999.10.12)
Progenitor genotype
Cytology
Description

Mutation causing a frameshift after amino acid 574.

(Saffman et al., 1998)
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  cystic kidney disease
      CEA
      (Millet-Boureima et al., 2019, Gamberi 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)
       
      Phenotypic Data
      Phenotypic Class
      Phenotype Manifest In
      Detailed Description
      Statement
      Reference

      BicC1/Df(2L)RA5 adults show reduced survival rate (while BicC1/+ heterozygotes survive normally) and display deformations of their Malpighian tubules (disorganization of the tubular epithelial cells, large, often numerous cysts) from an early age. These abnormal enlargements (cysts) are filled with fluid and contain dark crystalline particles. The cyst formation appears to increase over time and by day 30, the mutant flies display multiple cysts in both tubules and prominent deformities of the anterior terminal tubule.

      BicC1/Df(2L)RA5 mutants survive worse under high-salt diet stress conditions compared to wild-type, although they feed on it normally.

      (Gamberi 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
      Comments
      Images (0)
      Mutant
      Wild-type
      Stocks (0)
      Notes on Origin
      Discoverer
      Comments
      Comments

      Phenotypic data included in FBrf0051973.

      (Roote, 1995.5.4)
      External Crossreferences and Linkouts ( 0 )
      Synonyms and Secondary IDs (3)
      Reported As
      Symbol Synonym
      Bic-CIIF34
      (Saffman et al., 1998, Mahone et al., 1995)
      BicC1
      BicCIIF34
      (Millet-Boureima et al., 2020, Millet-Boureima et al., 2019, Gamberi et al., 2017)
      Name Synonyms
      Secondary FlyBase IDs
        References (10)