FB2024_02 , released April 23, 2024
Allele: Hsap\HTTQ128.hs
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General Information
Symbol
Hsap\HTTQ128.hs
Species
H. sapiens
Name
FlyBase ID
FBal0156384
Feature type
allele
Associated gene
Hsap\HTT
Associated Insertion(s)
Carried in Construct
P{hs-HTT.Q128}
Key Links
Transgenic product class
inframe_deletion
(Lee et al., 2004)
trinucleotide_repeat_expansion
(Lee et al., 2004)
Mutagen
Nature of the Allele
Transgenic product class
inframe_deletion
(Lee et al., 2004)
trinucleotide_repeat_expansion
(Lee et al., 2004)
Mutagen
in vitro construct - regulatory fusion
(Lee et al., 2004)
in vitro construct
(Lee et al., 2004)
Progenitor genotype
Carried in construct
P{hs-HTT.Q128}
Cytology
Description

Construct: A heat shock promoter sequences drive expression of the N terminal 548 aa of the Q128 Hsap\HD cDNA, which encodes the pathogenic protein.

(Lee et al., 2004)
Allele components
Component
Use(s)
Encoded product / tool
Hsap\HTT
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 ( 0 )
      Disease
      Evidence
      References
      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.
      (Lee et al., 2004)
      HTT:p.Gln18[128]
      (FlyBase curators, 2019-)
      Variants Synonym(s)
      HTT:p.Gln18[128Gln]
      HTT, (CAG)n REPEAT EXPANSION
      Associated human disease model(s)
      External database links
      ClinVar: HTT_409
      Comments concerning this variant
      Phenotypic Data
      Phenotypic Class
      Phenotype Manifest In
      Detailed Description
      Statement
      Reference

      Heat shock induces a neurophysiological phenotype; mutant animals show reduced photoreceptor depolarisation and complete abolishment of synaptic transmission in response to light. When heat shocked abnormal seizure activity is seen in the giant fibre flight circuit.

      (Lee et al., 2004)
      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\HDQ128.hs
      Hsap\HTTQ128.hs
      Name Synonyms
      Secondary FlyBase IDs
        References (3)