FB2024_03 , released June 25, 2024
Allele: Hsap\SETXR2136H.UAS
Open Close
General Information
Symbol
Hsap\SETXR2136H.UAS
Species
H. sapiens
Name
FlyBase ID
FBal0343876
Feature type
allele
Associated gene
Hsap\SETX
Associated Insertion(s)
Carried in Construct
P{UAS-hSETX.R2136H}
Key Links
Transgenic product class
missense_variant
(Mushtaq et al., 2016)
Mutagen
Nature of the Allele
Transgenic product class
missense_variant
(Mushtaq et al., 2016)
Mutagen
in vitro construct
(Mushtaq et al., 2016)
Progenitor genotype
Carried in construct
P{UAS-hSETX.R2136H}
Cytology
Description

UASt regulates expression of the full-length Hsap\SETX bearing a pathogenic R2136H mutation, which is linked to a dominant form of amyotrophic lateral sclerosis type 4.

(Mushtaq et al., 2016)
Allele components
Component
Use(s)
Regulatory region(s)
UASt
Encoded product / tool
Hsap\SETX
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  amyotrophic lateral sclerosis type 4
      CEA
      (Mushtaq et al., 2016)
      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.
      (Mushtaq et al., 2016)
      SETX:p.Arg2136His
      (FlyBase curators, 2019-)
      Variants Synonym(s)
      Associated human disease model(s)
      External database links
      ClinVar: SETX_2291
      Comments concerning this variant
      Phenotypic Data
      Phenotypic Class
      Phenotype Manifest In
      Detailed Description
      Statement
      Reference

      Expressing Hsap\SETXR2136H.UAS under the control of Scer\GAL4Act5C.PU leads to larval neuromuscular junctions with supernumerary/satellite boutons; these boutons do not show changes in the frequency of Futsch loops. There are no changes in neurotransmission under basal conditions (spontaneous miniature and evoked excitatory junction potential, and quantal content) or under high frequency stimulation (evoked excitatory junction potential amplitude), as compared to controls.

      (Mushtaq et al., 2016)
      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 (1)
      Reported As
      Symbol Synonym
      Hsap\SETXR2136H.UAS
      Name Synonyms
      Secondary FlyBase IDs
        References (2)