FlyBase Allele Report: Hsap\HTT[Q103.ex1p.UAS.EGFP]

General Information

Symbol

Hsap\HTT^{Q103.ex1p.UAS.EGFP}

Species

H. sapiens

Name

FlyBase ID

FBal0294198

Feature type

allele

Associated gene

Hsap\HTT

Associated Insertion(s)

Carried in Construct

P{UAS-Httex1p-Q103-eGFP}

Key Links

Transgenic product class

inframe_deletion

(Zhang et al., 2010)

trinucleotide_repeat_expansion

(Zhang et al., 2010)

Mutagen

in vitro construct

Nature of the Allele

Transgenic product class

inframe_deletion

(Zhang et al., 2010)

trinucleotide_repeat_expansion

(Zhang et al., 2010)

Mutagen

in vitro construct

(Zhang et al., 2010)

Progenitor genotype

Carried in construct

P{UAS-Httex1p-Q103-eGFP}

Cytology

Description

Sequencing of this line determined that it contains 97 sequential glutamines.

(Kim et al., 2017)

UASt regulatory sequences drive expression of Hsap\HTT exon 1 containing a 103 residue expanded polyQ tract. The protein is tagged at the C-terminal end with EGFP.

(Zhang et al., 2010)

Allele components

Component

Use(s)

Regulatory region(s)

UASt

binary expression system - regulatory region

Encoded product / tool

Hsap\HTT

Tagged with

EGFP

green 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 amyloidosis

CEA

(Melkani et al., 2013)

model of cardiomyopathy

CEA

(Melkani et al., 2013)

model of Huntington's disease

CEA

(Swinter et al., 2023, Xu et al., 2019, Kim et al., 2017)

Modifiers Based on Experimental Evidence ( 1 )

Disease

Interaction

References

model of Huntington's disease

is ameliorated by Fmr1^GL00075

(Xu et al., 2019)

is ameliorated by Fmr1^HMS00248

(Xu et al., 2019)

is ameliorated by EDTP^HMS01577

(Xiao et al., 2019)

Comments on Models/Modifiers Based on Experimental Evidence ( 0 )

Disease-implicated variant(s)

This allele represents a human variant implicated in disease.

(Zhang et al., 2010)

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 circadian rhythm | adult stage, with Scer\GAL4^P2.4.Pdf

(Xu et al., 2019)

short lived, with Scer\GAL4^HCH.Hand

(Melkani et al., 2013)

short lived, with Scer\GAL4^Toll-6-D42

(Xiao et al., 2019)

Phenotype Manifest In

adult heart, with Scer\GAL4^HCH.Hand

(Melkani et al., 2013)

adult ostium, with Scer\GAL4^HCH.Hand

(Melkani et al., 2013)

larval segmental nerve, with Scer\GAL4^Appl.G1a

(Swinter et al., 2023)

mitochondrion | larval stage, with Scer\GAL4^Appl.G1a

(Swinter et al., 2023)

Detailed Description

Statement

Reference

The expression of Hsap\HTT^{Q103.ex1p.UAS.EGFP} under the control of Scer\GAL4^P2.4.Pdf severely impairs circadian behavior.

(Xu et al., 2019)

3 week old flies expressing Hsap\HTT^{Q103.ex1p.Scer\UAS.T:Avic\GFP-EGFP} under the control of Scer\GAL4^HCH.Hand show a significant increase in systolic diameter, diastolic diameter, systolic interval, diastolic interval and cardiac arrhythmia compared to controls. Fractional shortening is significantly decreased. In addition morphological defects such as non-beating hearts, hearts with non-contractile regions and defective ostia are seen.

Expression of Hsap\HTT^{Q103.ex1p.Scer\UAS.T:Avic\GFP-EGFP} under the control of Scer\GAL4^HCH.Hand results in a significant decrease in lifespan compared to controls.

(Melkani et al., 2013)

Expression of Hsap\HTT^{Q103.ex1p.Scer\UAS.T:Avic\GFP-EGFP} under the control of Scer\GAL4^elav.PU results in formation of Hsap\HTT^{Q103.ex1p.Scer\UAS.T:Avic\GFP-EGFP} protein aggregates in the brain.

(Xiao et al., 2013)

Flies expressing Hsap\HTT^{Q103.ex1p.Scer\UAS.T:Avic\GFP-EGFP} under the control of Scer\GAL4^GMR.PU have Hsap\HTT protein aggregates in the eye even at 2 days of age.

(Zhang et al., 2010)

External Data

Linkouts

Interactions

Show genetic interaction network for Enhancers & Suppressors

Phenotypic Class

Enhanced by

Statement