FlyBase Allele Report: Hsap\HTT[UAS.103Q.mCherry]

General Information

Symbol

Hsap\HTT^{UAS.103Q.mCherry}

Species

H. sapiens

Name

FlyBase ID

FBal0303972

Feature type

allele

Associated gene

Hsap\HTT

Associated Insertion(s)

Carried in Construct

PBac{UAS-HTT.103Q.mCherry}

Key Links

Transgenic product class

trinucleotide_repeat_expansion

(Poças et al., 2015)

Mutagen

Nature of the Allele

Transgenic product class

trinucleotide_repeat_expansion

(Poças et al., 2015)

Mutagen

in vitro construct - regulatory fusion

(Poças et al., 2015)

in vitro construct - coding region fusion

(Poças et al., 2015)

Progenitor genotype

Carried in construct

PBac{UAS-HTT.103Q.mCherry}

Cytology

Description

UAS regulatory sequences (derived from pWalium10-roe) drive expression of a mutant Hsap\HTT with a 103-polyQ tail and fused with mCherry.

(Poças et al., 2015)

Allele components

Component

Use(s)

Regulatory region(s)

UAS

binary expression system - regulatory region

Encoded product / tool

Hsap\HTT

Tagged with

mCherry

red fluorescent protein

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 Huntington's disease

CEA

(Poças et al., 2015)

model of neurodegenerative disease

CEA with Hsap\SNCA^UAS.EGFP

(Poças et al., 2015)

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.

(Poças et al., 2015)

HTT:p.Gln18[103]

(FlyBase curators, 2019-)

Variants Synonym(s)

HTT:p.Gln18[103Gln]

HTT, (CAG)n REPEAT EXPANSION

Associated human disease model(s)

Huntington disease

External database links

ClinVar: HTT_409

Comments concerning this variant

Phenotypic Data

Phenotypic Class

abnormal locomotor behavior | progressive, with Scer\GAL4^nSyb.PU

(Poças et al., 2015)

short lived, with Scer\GAL4^nSyb.PU

(Poças et al., 2015)

visible, with Scer\GAL4^GMR.PU

(Poças et al., 2015)

Phenotype Manifest In

eye, with Scer\GAL4^GMR.PU

(Poças et al., 2015)

eye photoreceptor cell, with Scer\GAL4^ninaE.PU

(Poças et al., 2015)

Detailed Description

Statement

Reference

Flies expressing Hsap\HTT^{Scer\UAS.103Q.T:Disc\RFP-mCherry} under the control of Scer\GAL4^GMR.PU show striking retinal degeneration, producing a strong rough eye phenotype.

Flies expressing Hsap\HTT^{Scer\UAS.103Q.T:Disc\RFP-mCherry} under the control of Scer\GAL4^nSyb.PU show progressive motor dysfunction and are short lived compared to controls.

(Poças et al., 2015)

External Data

Linkouts

Interactions

Show genetic interaction network for Enhancers & Suppressors

Phenotypic Class

Enhanced by

Statement

Reference

Hsap\HTT^{UAS.103Q.mCherry}, Scer\GAL4^nSyb.PU has abnormal locomotor behavior | progressive phenotype, enhanceable by Hsap\SNCA^UAS.EGFP, Scer\GAL4^nSyb.PU

(Poças et al., 2015)

Hsap\HTT^{UAS.103Q.mCherry}, Scer\GAL4^nSyb.PU has short lived phenotype, enhanceable by Hsap\SNCA^UAS.EGFP, Scer\GAL4^nSyb.PU

(Poças et al., 2015)

NOT Enhanced by

Statement

Reference

Hsap\HTT^{UAS.103Q.mCherry}, Scer\GAL4^GMR.PU has visible phenotype, non-enhanceable by Hsap\SNCA^UAS.EGFP, Scer\GAL4^GMR.PU

(Poças et al., 2015)

Phenotype Manifest In

Enhanced by

Statement

Reference

Hsap\HTT^{UAS.103Q.mCherry}, Scer\GAL4^ninaE.PU has eye photoreceptor cell phenotype, enhanceable by Hsap\SNCA^UAS.EGFP, Scer\GAL4^ninaE.PU

(Poças et al., 2015)

NOT Enhanced by

Statement

Reference

Hsap\HTT^{UAS.103Q.mCherry}, Scer\GAL4^GMR.PU has eye phenotype, non-enhanceable by Hsap\SNCA^UAS.EGFP, Scer\GAL4^GMR.PU

(Poças et al., 2015)

Additional Comments

Genetic Interactions

Statement

Reference

Xenogenetic Interactions

Statement

Reference

Flies expressing Hsap\HTT^{Scer\UAS.103Q.T:Disc\RFP-mCherry} together with Hsap\SNCA^{Scer\UAS.T:Avic\GFP-EGFP} under the control of Scer\GAL4^GMR.PU show striking retinal degeneration, producing a strong rough eye phenotype.

Co-expression of Hsap\HTT^{Scer\UAS.103Q.T:Disc\RFP-mCherry} and Hsap\SNCA^{Scer\UAS.T:Avic\GFP-EGFP} specifically in the photoreceptors R1-R6 using Scer\GAL4^ninaE.PU results in a stronger and premature degeneration phenotype compared with the Hsap\HTT^{Scer\UAS.103Q.T:Disc\RFP-mCherry} single transgenic line.

Co-expression of Hsap\HTT^{Scer\UAS.103Q.T:Disc\RFP-mCherry} and Hsap\SNCA^{Scer\UAS.T:Avic\GFP-EGFP} in the nervous system under the control of Scer\GAL4^nSyb.PU causes severe motor dysfunction and decrease in life span. Flies co-expressing Hsap\HTT^{Scer\UAS.103Q.T:Disc\RFP-mCherry} and Hsap\SNCA^{Scer\UAS.T:Avic\GFP-EGFP} show stronger progressive motor dysfunction than flies expressing Hsap\HTT^{Scer\UAS.103Q.T:Disc\RFP-mCherry} alone. The decrease in life span of flies expressing Hsap\HTT^{Scer\UAS.103Q.T:Disc\RFP-mCherry} is also exacerbated by the co-expression of Hsap\SNCA^{Scer\UAS.T:Avic\GFP-EGFP}. Neurotoxicity, motor dysfunction and fly death start around days 8-15 and their increase occur in parallel, indicating an association between these events.

(Poças 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\HTT^{Scer\UAS.103Q.T:Disc\RFP-mCherry}

Hsap\HTT^{UAS.103Q.mCherry}

Name Synonyms

Secondary FlyBase IDs

References (2)

Report Sections

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