FB2020_06, released Dec 22, 2020

Allele: Hsap\APOL1G1.UAS.cKa

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General Information
Symbol
Hsap\APOL1G1.UAS.cKa
Species
H. sapiens
Name
UAS construct of Kruzel-Davila
FlyBase ID
FBal0342169
Feature type
allele
Associated gene
Hsap\APOL1
Associated Insertion(s)
Carried in Construct
P{UAS-hAPOL1.G1.K}
Allele class
Mutagen
Nature of the Allele
Allele class
Mutagen
in vitro construct - regulatory fusion
(Kruzel-Davila et al., 2017)
in vitro construct - amino acid replacement
(Kruzel-Davila et al., 2017)
Mutations Mapped to the Genome
 
Type
Location
Additional Notes
References
Associated Sequence Data
DDBJ / EMBL / GenBank
DNA sequence
Protein sequence
 
UniProtKB/Swiss-Prot
    UniProtKB/TrEMBL
       
      Progenitor genotype
      Carried in construct
      P{UAS-hAPOL1.G1.K}
      Cytology
      Nature of the lesion
      Statement
      Reference

      UASt regulates expression of the G1 haplotype of the Hsap\APOL1 gene, comprises two nonsynonymous coding variants rs73885319 (S342G) and rs60910145 (I384M) within the C-terminal Serum Resistance-Associated (SRA) interacting domain. This variant is associated with a markedly increased risk of progressive kidney disease in sub-Saharan African ancestry populations.

      (Kruzel-Davila et al., 2017)
      Allele components
      Product class / Tool use(s)
      Regulatory region(s)
      UASt
      Encoded product / tool
      Hsap\APOL1
      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  chronic kidney disease
      CEA
      (Kruzel-Davila et al., 2017)
      Modifiers Based on Experimental Evidence ( 0 )
      Disease
      Interaction
      References
      Comments on Models/Modifiers Based on Experimental Evidence ( 0 )
       
      Phenotypic Data
      Phenotypic Class
      Phenotype Manifest In
      Detailed Description
      Statement
      Reference

      Expressing Hsap\APOL1G1.UAS.cKa under the control of Scer\GAL4da.PU induces almost full lethality; one individual that succeeded in eclosing displays a severe wing phenotype.

      Scer\GAL4GMR.PU-driven expression induces a very frequent and severe 'rough eye' phenotype, with a concave structure and disrupted ommatidial structure.

      Adult pericardial nephrocytes expressing Hsap\APOL1G1.UAS.cKa under the control of Scer\GAL4Ugt36A1.PK exhibit increased uptake function, as compared to controls.

      (Kruzel-Davila 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
      External Crossreferences and Linkouts ( 0 )
      Synonyms and Secondary IDs (2)
      Reported As
      Symbol Synonym
      Hsap\APOL1G1.UAS.cKa
      Name Synonyms
      UAS construct of Kruzel-Davila
      Secondary FlyBase IDs
        References (2)