FlyBase Allele Report: Hsap\HTT[48Q.Ex1.UAS.EGFP.Tag:NLS(Unk)]

General Information

Symbol

Hsap\HTT^{48Q.Ex1.UAS.EGFP.Tag:NLS(Unk)}

Species

H. sapiens

Name

FlyBase ID

FBal0258489

Feature type

allele

Associated gene

Hsap\HTT

Associated Insertion(s)

Carried in Construct

P{UAS-nls.Htt.48Q-EGFP}

Key Links

Transgenic product class

inframe_deletion

(Doumanis et al., 2009)

trinucleotide_repeat_expansion

(Doumanis et al., 2009)

Mutagen

in vitro construct

Nature of the Allele

Transgenic product class

inframe_deletion

(Doumanis et al., 2009)

trinucleotide_repeat_expansion

(Doumanis et al., 2009)

Mutagen

in vitro construct

(Doumanis et al., 2009)

Progenitor genotype

Carried in construct

P{UAS-nls.Htt.48Q-EGFP}

Cytology

Description

UAS regulatory sequences drive expression of Hsap\HTT exon 1 containing a 48Q expansion, fused to EGFP with a nuclear localization signal at the N-terminus.

(Doumanis et al., 2009)

Allele components

Component

Use(s)

Regulatory region(s)

UAS

binary expression system - regulatory region

Encoded product / tool

Hsap\HTT

Tagged with

EGFP

green fluorescent protein

Tag:NLS(Unk)

nuclear protein localization tag

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 with Hsap\HTT^{152Q.Ex1.UAS.EGFP}

(Doumanis et al., 2009)

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.

(Doumanis et al., 2009)

HTT:p.Gln18[48]

(FlyBase curators, 2019-)

Variants Synonym(s)

HTT:p.Gln18[48Gln]

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

melanotic necrosis, with Hsap\HTT^{152Q.Ex1.UAS.EGFP}, Scer\GAL4^GMR.PF

(Doumanis et al., 2009)

melanotic necrosis, with Scer\GAL4^GMR.PF

(Doumanis et al., 2009)

Phenotype Manifest In

eye, with Hsap\HTT^{152Q.Ex1.UAS.EGFP}, Scer\GAL4^GMR.PF

(Doumanis et al., 2009)

eye, with Scer\GAL4^GMR.PF

(Doumanis et al., 2009)

pigment cell, with Hsap\HTT^{152Q.Ex1.UAS.EGFP}, Scer\GAL4^GMR.PF

(Doumanis et al., 2009)

pigment cell, with Scer\GAL4^GMR.PF

(Doumanis et al., 2009)

Detailed Description

Statement

Reference

:Expression of Hsap\HTT^{48Q.Ex1.Scer\UAS.T:Avic\GFP-EGFP.T:Zzzz\nls1} in the developing eye using the Scer\GAL4^GMR.PF driver generates a moderate loss of eye pigmentation.

Expression of Hsap\HTT^{152Q.Ex1.Scer\UAS.T:Avic\GFP-EGFP} and Hsap\HTT^{48Q.Ex1.Scer\UAS.T:Avic\GFP-EGFP.T:Zzzz\nls1} in the developing eye using the Scer\GAL4^GMR.PF driver produces a degenerative eye phenotype characterized by loss of pigment cells and an increased occurrence of dark necrotic spots on the external eye.

(Doumanis et al., 2009)

External Data

Linkouts

Interactions

Show genetic interaction network for Enhancers & Suppressors

Phenotypic Class

Suppressed by

Statement

Reference

Hsap\HTT^{152Q.Ex1.UAS.EGFP}, Hsap\HTT^{48Q.Ex1.UAS.EGFP.Tag:NLS(Unk)}, Scer\GAL4^GMR.PF has melanotic necrosis phenotype, suppressible by kri^GD11686, Scer\GAL4^GMR.PF

(Doumanis et al., 2009)

Hsap\HTT^{152Q.Ex1.UAS.EGFP}, Hsap\HTT^{48Q.Ex1.UAS.EGFP.Tag:NLS(Unk)}, Scer\GAL4^GMR.PF has melanotic necrosis phenotype, suppressible by Nup160^GD11413, Scer\GAL4^GMR.PF

(Doumanis et al., 2009)

Hsap\HTT^{152Q.Ex1.UAS.EGFP}, Hsap\HTT^{48Q.Ex1.UAS.EGFP.Tag:NLS(Unk)}, Scer\GAL4^GMR.PF has melanotic necrosis phenotype, suppressible by DnaJ-1^UAS.cKa, Scer\GAL4^GMR.PF

(Doumanis et al., 2009)

Hsap\HTT^{152Q.Ex1.UAS.EGFP}, Hsap\HTT^{48Q.Ex1.UAS.EGFP.Tag:NLS(Unk)}, Scer\GAL4^GMR.PF has melanotic necrosis phenotype, suppressible by Wdr33^GD7195, Scer\GAL4^GMR.PF

(Doumanis et al., 2009)

Phenotype Manifest In

Enhanced by

Statement

Reference

Hsap\HTT^{152Q.Ex1.UAS.EGFP}, Hsap\HTT^{48Q.Ex1.UAS.EGFP.Tag:NLS(Unk)}, Scer\GAL4^GMR.PF has eye phenotype, enhanceable by Rheb^UAS.cPa, Scer\GAL4^GMR.PF

(Doumanis et al., 2009)

Hsap\HTT^{152Q.Ex1.UAS.EGFP}, Hsap\HTT^{48Q.Ex1.UAS.EGFP.Tag:NLS(Unk)}, Scer\GAL4^GMR.PF has pigment cell phenotype, enhanceable by Rheb^UAS.cPa, Scer\GAL4^GMR.PF

(Doumanis et al., 2009)

Hsap\HTT^{152Q.Ex1.UAS.EGFP}, Hsap\HTT^{48Q.Ex1.UAS.EGFP.Tag:NLS(Unk)}, Scer\GAL4^GMR.PF has eye phenotype, enhanceable by hiw^GD14104, Scer\GAL4^GMR.PF

(Doumanis et al., 2009)

Hsap\HTT^{152Q.Ex1.UAS.EGFP}, Hsap\HTT^{48Q.Ex1.UAS.EGFP.Tag:NLS(Unk)}, Scer\GAL4^GMR.PF has pigment cell phenotype, enhanceable by hiw^GD14104, Scer\GAL4^GMR.PF

(Doumanis et al., 2009)

Suppressed by

Statement

Reference

Hsap\HTT^{152Q.Ex1.UAS.EGFP}, Hsap\HTT^{48Q.Ex1.UAS.EGFP.Tag:NLS(Unk)}, Scer\GAL4^GMR.PF has eye phenotype, suppressible by DnaJ-1^UAS.cKa, Scer\GAL4^GMR.PF

(Doumanis et al., 2009)

Hsap\HTT^{152Q.Ex1.UAS.EGFP}, Hsap\HTT^{48Q.Ex1.UAS.EGFP.Tag:NLS(Unk)}, Scer\GAL4^GMR.PF has pigment cell phenotype, suppressible by DnaJ-1^UAS.cKa, Scer\GAL4^GMR.PF

(Doumanis et al., 2009)

Hsap\HTT^{152Q.Ex1.UAS.EGFP}, Hsap\HTT^{48Q.Ex1.UAS.EGFP.Tag:NLS(Unk)}, Scer\GAL4^GMR.PF has eye phenotype, suppressible by Wdr33^GD7195, Scer\GAL4^GMR.PF

(Doumanis et al., 2009)

Hsap\HTT^{152Q.Ex1.UAS.EGFP}, Hsap\HTT^{48Q.Ex1.UAS.EGFP.Tag:NLS(Unk)}, Scer\GAL4^GMR.PF has pigment cell phenotype, suppressible by Wdr33^GD7195, Scer\GAL4^GMR.PF

(Doumanis et al., 2009)

Hsap\HTT^{152Q.Ex1.UAS.EGFP}, Hsap\HTT^{48Q.Ex1.UAS.EGFP.Tag:NLS(Unk)}, Scer\GAL4^GMR.PF has eye phenotype, suppressible by kri^GD11686, Scer\GAL4^GMR.PF

(Doumanis et al., 2009)

Hsap\HTT^{152Q.Ex1.UAS.EGFP}, Hsap\HTT^{48Q.Ex1.UAS.EGFP.Tag:NLS(Unk)}, Scer\GAL4^GMR.PF has pigment cell phenotype, suppressible by kri^GD11686, Scer\GAL4^GMR.PF

(Doumanis et al., 2009)

Hsap\HTT^{152Q.Ex1.UAS.EGFP}, Hsap\HTT^{48Q.Ex1.UAS.EGFP.Tag:NLS(Unk)}, Scer\GAL4^GMR.PF has eye phenotype, suppressible by Nup160^GD11413, Scer\GAL4^GMR.PF

(Doumanis et al., 2009)

Hsap\HTT^{152Q.Ex1.UAS.EGFP}, Hsap\HTT^{48Q.Ex1.UAS.EGFP.Tag:NLS(Unk)}, Scer\GAL4^GMR.PF has pigment cell phenotype, suppressible by Nup160^GD11413, Scer\GAL4^GMR.PF

(Doumanis et al., 2009)

Enhancer of

Statement

Reference

Hsap\HTT^{152Q.Ex1.UAS.EGFP}/Hsap\HTT^{48Q.Ex1.UAS.EGFP.Tag:NLS(Unk)}, Scer\GAL4^GMR.PF is an enhancer of eye phenotype of Scer\GAL4^GMR.PF, hiw^GD14101

(Doumanis et al., 2009)

Additional Comments

Genetic Interactions

Statement

Reference

Xenogenetic Interactions

Statement

Reference

Expression of DnaJ-1^Scer\UAS.cKa in the developing eye under the control of Scer\GAL4^GMR.PF suppresses the eye phenotype found in flies mutant for both Hsap\HTT^{152Q.Ex1.Scer\UAS.T:Avic\GFP-EGFP} and Hsap\HTT^{48Q.Ex1.Scer\UAS.T:Avic\GFP-EGFP.T:Zzzz\nls1}.

Overexpression of Rheb^Scer\UAS.cPa in the developing eye enhances the phenotype seen in mutant flies co-expressing Hsap\HTT^{152Q.Ex1.Scer\UAS.T:Avic\GFP-EGFP} and Hsap\HTT^{48Q.Ex1.Scer\UAS.T:Avic\GFP-EGFP.T:Zzzz\nls1} under the control of Scer\GAL4^GMR.PF, with a severe rough eye phenotype and enhancement of pigment cell loss.

Expression of CG1109^GD7195 in the developing eye under the control of Scer\GAL4^GMR.PF strongly suppresses the loss of pigment seen in mutant flies co-expressing Hsap\HTT^{152Q.Ex1.Scer\UAS.T:Avic\GFP-EGFP} and Hsap\HTT^{48Q.Ex1.Scer\UAS.T:Avic\GFP-EGFP.T:Zzzz\nls1} under the control of Scer\GAL4^GMR.PF. There is a clear decrease in the number of necrotic fly eyes in these progeny.

Expression of CG5537^GD11686 in the developing eye under the control of Scer\GAL4^GMR.PF suppresses the loss of pigment seen in mutant flies co-expressing Hsap\HTT^{152Q.Ex1.Scer\UAS.T:Avic\GFP-EGFP} and Hsap\HTT^{48Q.Ex1.Scer\UAS.T:Avic\GFP-EGFP.T:Zzzz\nls1} under the control of Scer\GAL4^GMR.PF. There is a clear decrease in the number of necrotic fly eyes in these progeny.

Expression of Nup160^GD11413 in the developing eye under the control of Scer\GAL4^GMR.PF strongly suppresses the loss of pigment seen in mutant flies co-expressing Hsap\HTT^{152Q.Ex1.Scer\UAS.T:Avic\GFP-EGFP} and Hsap\HTT^{48Q.Ex1.Scer\UAS.T:Avic\GFP-EGFP.T:Zzzz\nls1} under the control of Scer\GAL4^GMR.PF. There is a clear decrease in the number of necrotic fly eyes in these progeny.

Expression of hiw^GD14104 in the developing eye under the control of Scer\GAL4^GMR.PF enhances the loss of pigment seen in mutant flies co-expressing Hsap\HTT^{152Q.Ex1.Scer\UAS.T:Avic\GFP-EGFP} and Hsap\HTT^{48Q.Ex1.Scer\UAS.T:Avic\GFP-EGFP.T:Zzzz\nls1} under the control of Scer\GAL4^GMR.PF.

(Doumanis et al., 2009)

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 (4)

Reported As

Symbol Synonym

Hsap\HTT^{48Q.Ex1.Scer\UAS.T:Avic\GFP-EGFP.T:Uuuu\nls-Unk}

Hsap\HTT^{48Q.Ex1.Scer\UAS.T:Avic\GFP-EGFP.T:Zzzz\nls-KKKRKV}

Hsap\HTT^{48Q.Ex1.Scer\UAS.T:Avic\GFP-EGFP.T:Zzzz\nls1}

Hsap\HTT^{48Q.Ex1.UAS.EGFP.Tag:NLS(Unk)}

Name Synonyms

Secondary FlyBase IDs

References (3)

Report Sections

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