FB2025_01 , released February 20, 2025
Allele: Hsap\GARS1E71G.UAS
Open Close
General Information
Symbol
Hsap\GARS1E71G.UAS
Species
H. sapiens
Name
FlyBase ID
FBal0314807
Feature type
allele
Associated gene
Hsap\GARS1
Associated Insertion(s)
Carried in Construct
PBac{UAS-GARS.E71G}
Key Links
Transgenic product class
missense_variant
(Niehues et al., 2015)
Mutagen
Nature of the Allele
Transgenic product class
missense_variant
(Niehues et al., 2015)
Mutagen
in vitro construct
(Niehues et al., 2015)
Progenitor genotype
Carried in construct
PBac{UAS-GARS.E71G}
Cytology
Description

UASt regulates expression of Hsap\GARS cDNA containing a E71G mutation (which is linked to Charcot-Marie-Tooth disease).

(Niehues et al., 2015)
Allele components
Component
Use(s)
Regulatory region(s)
UASt
Encoded product / tool
Hsap\GARS1
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 )
      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.
      (Niehues et al., 2015)
      GARS1:p.Glu125Gly
      (FlyBase curators, 2019-)
      Variants Synonym(s)
      GARS1:p.Glu71Gly
      Associated human disease model(s)
      External database links
      ClinVar: GARS1_9206
      Comments concerning this variant
      Phenotypic Data
      Phenotypic Class
      Phenotype Manifest In
      Detailed Description
      Statement
      Reference

      Scer\GAL4Act5C.PU- and Scer\GAL4nSyb.PU-induced lethality is PBac{UAS-GARS.E71G} dosage dependent.

      Scer\GAL4tub.PU-mediated expression from the adult stage onwards (achieved via the GAL80 target system) reduces lifespan in a Scer\UAS-transgene dose-dependent manner.

      Scer\GAL4VGlut-OK371-mediated expression does not affect the number of motor neuron cell bodies or neuromuscular junction morphology in the ventral nerve cord of third instar larvae.

      Scer\GAL4VGlut-OK371-mediated expression significantly reduces synapse size on distal muscle 1/9 but not the other muscles analyzed (distal muscle 8; and proximal muscles 21 and 4).

      Scer\GAL4ppk.PU-mediated expression induces a significant reduction in class IV multi-dendritic coverage within the larval body wall, while cell body morphology is not altered.

      (Niehues 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
      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 (3)
      Reported As
      Symbol Synonym
      Hsap\GARS1E71G.UAS
      Hsap\GARSE71G.Scer\UAS
      Hsap\GARSE71G.UAS
      Name Synonyms
      Secondary FlyBase IDs
        References (3)