FB2022_02, released March 29, 2022

Allele: Hsap\GJB3F137L.UAS.Tag:MYC

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General Information
Symbol
Hsap\GJB3F137L.UAS.Tag:MYC
Species
H. sapiens
Name
FlyBase ID
FBal0316797
Feature type
allele
Associated gene
Hsap\GJB3
Associated Insertion(s)
Carried in Construct
P{UAS-GJB3.F137L}
Key Links
Allele class
Mutagen
Nature of the Allele
Allele class
Mutagen
in vitro construct - regulatory fusion
(Tang et al., 2015)
in vitro construct - amino acid replacement
(Tang et al., 2015)
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-GJB3.F137L}
      Cytology
      Nature of the lesion
      Statement
      Reference

      UAS regulatory sequences drive expression of a myc-tagged erythrokeratodermia variabilis (EKV) associated F137L mutant of Hsap\GJB3.

      (Tang et al., 2015)
      Allele components
      Product class / Tool use(s)
      Regulatory region(s)
      UAS
      Encoded product / tool
      Hsap\GJB3
      Tagged with
      Tag:MYC
      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  erythrokeratodermia variabilis
      CEA
      (Tang et al., 2015)
      Modifiers Based on Experimental Evidence ( 1 )
      Disease
      Interaction
      References
      model of  erythrokeratodermia variabilis
      is ameliorated by Hsc70-3UAS.cEa
      (Tang et al., 2015)
      is ameliorated by Hsc70-4UAS.cEa
      (Tang et al., 2015)
      is exacerbated by Hsc70-4K71S.UAS
      (Tang et al., 2015)
      Comments on Models/Modifiers Based on Experimental Evidence ( 0 )
       
      Disease-implicated variant(s)
       
      This allele represents a human variant implicated in disease.
      (Tang et al., 2015)
      GJB3:p.Phe137Leu
      (FlyBase curators, 2019-)
      Variants Synonym(s)
      Associated human disease model(s)
      External database links
      UniProtKB/Swiss-Prot variant: GJB3_VAR_015086
      Comments concerning this variant
      Phenotypic Data
      Phenotypic Class
      Phenotype Manifest In
      Detailed Description
      Statement
      Reference

      Expression of Scer\GAL4GMR.PF>Hsap\GJB3F137L.Scer\UAS.T:Hsap\MYC results in loss of pigmentation on the majority of ommatidia and ommatidial degeneration.

      (Tang et al., 2015)
      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

      Co-expression of Hsc70-3Scer\UAS.cEa suppresses the ommatidial degeneration and loss of pigmentation induced by Scer\GAL4GMR.PF>Hsap\GJB3F137L.Scer\UAS.T:Hsap\MYC in more than 90% of flies.

      Co-expression of Hsc70-4Scer\UAS.cEa suppresses the ommatidial degeneration and loss of pigmentation induced by Scer\GAL4GMR.PF>Hsap\GJB3F137L.Scer\UAS.T:Hsap\MYC in more than 90% of flies.

      Co-expression of Hsc70-4K71S.Scer\UAS with Scer\GAL4GMR.PF>Hsap\GJB3F137L.Scer\UAS.T:Hsap\MYC leads to further deleterious eye phenotypes manifesting in complete loss of pigmentation and increased black degeneration lesions.

      (Tang et al., 2015)
      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\GJB3F137L.Scer\UAS.T:Hsap\MYC
      Hsap\GJB3F137L.UAS.Tag:MYC
      Name Synonyms
      Secondary FlyBase IDs
        References (2)