FlyBase Allele Report: Hsap\HTT[GMR.Q120]

General Information

Symbol

Hsap\HTT^GMR.Q120

Species

H. sapiens

Name

FlyBase ID

FBal0093286

Feature type

allele

Associated gene

Hsap\HTT

Associated Insertion(s)

Carried in Construct

P{GMR-HTT.Q120}

Also Known As

gmr-Htt-Q120, gmr-HttQ120, GMR-HTT.Q120, gmr-Q120, Q120, gmr-Htt(exon1)Q120, GMR-HD.Q120

Key Links

Transgenic product class

inframe_deletion

(Jackson et al., 1998)

trinucleotide_repeat_expansion

(Jackson et al., 1998)

Mutagen

in vitro construct

Nature of the Allele

Transgenic product class

inframe_deletion

(Jackson et al., 1998)

trinucleotide_repeat_expansion

(Jackson et al., 1998)

Mutagen

in vitro construct

(Jackson et al., 1998)

Progenitor genotype

Carried in construct

P{GMR-HTT.Q120}

Cytology

Description

Expression of Hsap\HTT amino acids 1-170, with 120 CAG glutamine repeats is governed by the GMR promoter.

(Jackson et al., 1998)

Allele components

Component

Use(s)

Regulatory region(s)

GMR

engineered transcription regulatory region

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 ( 1 )

Disease

Evidence

References

model of Huntington's disease

CEA

(Haga-Yamanaka et al., 2024, Jimenez-Sanchez et al., 2015, Tamura et al., 2011, Underwood et al., 2010, Winslow et al., 2010, Wang et al., 2009, Ravikumar et al., 2008, Qi et al., 2007, Rusten et al., 2007, Hoshino et al., 2006, Jackson et al., 1998)

model of neurodegenerative disease

CEA

(Chan et al., 2000)

Modifiers Based on Experimental Evidence ( 1 )

Disease

Interaction

References

model of Huntington's disease

is exacerbated by Rab5^UAS.EGFP

(Ravikumar et al., 2008)

is exacerbated by Hsap\SNCA^UAS.cFa

(Winslow et al., 2010)

is ameliorated by Hsap\YAP1^ΔC61.UAS

(Hoshino et al., 2006)

is exacerbated by Vps25^A3

(Rusten et al., 2007)

is exacerbated by Vps28^D2

(Rusten et al., 2007)

is exacerbated by shrb^G5

(Rusten et al., 2007)

is ameliorated by Irbp^KK101447

(Tamura et al., 2011)

is ameliorated by Atg1^{ninaE.Tag:MYC}

(Wang et al., 2009)

is ameliorated by Tsc1^UAS.cGa

(Wang et al., 2009)

is ameliorated by Atg1^{W.Scer\UAS.T:Hsap\MYC}

(Wang et al., 2009)

is ameliorated by gig^UAS.cTa

(Wang et al., 2009)

is ameliorated by QC^KK109667

(Jimenez-Sanchez et al., 2015)

is ameliorated by isoQC^KK108983

(Jimenez-Sanchez et al., 2015)

is ameliorated by QC^GD6767

(Jimenez-Sanchez et al., 2015)

is ameliorated by Hsap\HTT^GMR.Q120

(Takeuchi et al., 2015)

is ameliorated by DnaJ-1^UAS.cTa

(Takeuchi et al., 2015)

is exacerbated by Rnor\Hmgb1^UAS.cQa

(Qi et al., 2007)

is ameliorated by p53^5A-1-4

(Bae et al., 2005)

is exacerbated by Psa^NIG.1009R

(Menzies et al., 2010)

is ameliorated by Psa^GMR.Ex.PK

(Menzies et al., 2010)

is ameliorated by CalpA^KK104532

(Menzies et al., 2015)

is ameliorated by Hsap\ATXN3^{fl.Q27.UAS.Tag:MYC}

(Warrick et al., 2005)

is ameliorated by DnaJ-1^UAS.cKb

(Kuo et al., 2013)

model of neurodegenerative disease

is ameliorated by DnaJ-1^UAS.Tag:FLAG

(Chan et al., 2000)

is ameliorated by Hsap\HSPA1L^UAS.cWa

(Chan et al., 2000)

is ameliorated by Rpn11^UAS.cTa

(Tonoki et al., 2009)

is exacerbated by Rpn11^RNAi.UAS

(Tonoki et al., 2009)

is exacerbated by Trpml¹

(Venkatachalam et al., 2008)

ameliorates Huntington's disease

modeled by Hsap\HTT^GMR.Q120

(Takeuchi et al., 2015)

Comments on Models/Modifiers Based on Experimental Evidence ( 1 )

Aggregates form in the eyes of flies expressing Hsap\HTT^GMR.Q120. Fewer aggregates are observed after treatment with compound SEN177.

(Jimenez-Sanchez et al., 2015)

Disease-implicated variant(s)

This allele represents a human variant implicated in disease.

(Jackson et al., 1998)

HTT:p.Gln18[120]

(FlyBase curators, 2019-)

Variants Synonym(s)

HTT:p.Gln18[120Gln]

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 neuroanatomy

(Jimenez-Sanchez et al., 2015, Tamura et al., 2011, Underwood et al., 2010, Winslow et al., 2010, Kanuka et al., 2003)

abnormal neuroanatomy | adult stage | progressive

(Bae et al., 2005)

abnormal neuroanatomy | progressive

(Menzies et al., 2010, Chan et al., 2000)

increased cell death

(Wang et al., 2009)

visible | dominant

(Jackson et al., 1998)

Phenotype Manifest In

eye

(Takeuchi et al., 2015, Kuo et al., 2013, Underwood et al., 2010, Kanuka et al., 2003, Kazemi-Esfarjani and Benzer, 2002)

eye, with Scer\GAL4^GMR.long

(Hoshino et al., 2006)

eye | progressive

(Tonoki et al., 2009)

eye photoreceptor cell

(Tamura et al., 2011, Venkatachalam et al., 2008, Rusten et al., 2007, Boeddrich et al., 2006)

eye photoreceptor cell, with Scer\GAL4^GMR.long

(Hoshino et al., 2006)

eye photoreceptor cell | progressive

(Bae et al., 2005)

ommatidium

(Ravikumar et al., 2004, Jackson et al., 1998)

ommatidium, with Scer\GAL4^GMR.long

(Hoshino et al., 2006)

photoreceptor neuron

(Wang et al., 2009)

retina

(Warrick et al., 2005)

retina | progressive

(Chan et al., 2000)

rhabdomere

(Jimenez-Sanchez et al., 2015, Takeuchi et al., 2015, Kuo et al., 2013, Wang et al., 2009, Ravikumar et al., 2004, Jackson et al., 1998)

rhabdomere | adult stage

(Berger et al., 2006)

rhabdomere | conditional

(Berger et al., 2005)

rhabdomere | progressive

(Tonoki et al., 2009)

rhabdomere | progressive, with Scer\GAL4^GMR.PF

(Menzies et al., 2015)

rhabdomere of eye photoreceptor cell

(Menzies et al., 2010, Underwood et al., 2010, Winslow et al., 2010, Ravikumar et al., 2008)

rhabdomere of eye photoreceptor cell | progressive

(Bae et al., 2005)

Detailed Description

Statement

Reference

Expression of Hsap\HTT^GMR.Q120 results in neurodegeneration and the loss of rhabdomeres.

(Jimenez-Sanchez et al., 2015)

Flies expressing Hsap\HTT^GMR.Q120 show a progressive decrease in the number of visible rhabdomeres per ommatidium.

(Menzies et al., 2015)

The eyes of flies expressing Hsap\HTT^GMR.Q120 progressively degenerate.

(Takeuchi et al., 2015)

Flies expressing Hsap\HTT^GMR.Q120 show strong age-dependent loss of rhabdomeres. Rhabdomeres that are present show accumulation of prominent vacuoles.

(Kuo et al., 2013)

Newly eclosed flies carrying Hsap\HTT^GMR.Q120 show degeneration of photoreceptor cells.

(Tamura et al., 2011)

Fly photoreceptors that express Hsap\HTT^GMR.Q120 exhibit degeneration. Neurodegeneration in these flies is progressive and associated with a decrease over time in the number of visible rhabdomeres in each ommatidium.

(Menzies et al., 2010)

Flies expressing Hsap\HTT^GMR.Q120 in the eye show degeneration of rhabdomeres. Low doses of N-acetyl cysteine (NAC) have no significant effect, while high doses exacerbated the neurodegenerative phenotype. Both NAC and cystamine significantly impairs the ability of rapamycin to rescue the neurodegenerative phenotype.

(Underwood et al., 2010)

Expression of Hsap\HTT^GMR.Q120 results in progressive rhabdomeric loss. Almost 7 rhabdomeres are observed within each ommatidium at day 2, but these are progressively lost with time.

(Tonoki et al., 2009)

Hsap\HTT^GMR.Q120 flies manifest strong age-dependent loss of rhabdomeres and photoreceptor cells.

(Wang et al., 2009)

Flies expressing Hsap\HD^GMR.Q120 show age-dependent degeneration of photoreceptors.

(Venkatachalam et al., 2008)

Flies expressing Hsap\HD^GMR.Q120 show a marked reduction in the number of intact photoreceptors 2 days after eclosion.

(Rusten et al., 2007)

Expression of Hsap\HTT^GMR.Q120 results in loss of rhabdomeres 4 days after eclosion.

(Berger et al., 2006)

Hsap\HD^GMR.Q120 expression results in photoreceptor cell degeneration.

(Boeddrich et al., 2006)

Expression of Hsap\HD^GMR.Q120 in the developing and adult eye, under the control of Scer\GAL4^GMR.long severely disrupts photoreceptor neurons and ommatidial structure.

(Hoshino et al., 2006)

Hsap\HTT^GMR.Q120 flies show age-dependent degeneration of rhabdomeres and photoreceptor cells compared to controls.

(Bae et al., 2005)

Flies show progressive loss of rhabdomeres. This phenotype can be partially rescued by rearing the animals on food containing Li[+] or AR-A014418.

(Berger et al., 2005)

10 day old flies expressing Hsap\HD^GMR.Q120 show severe retinal degeneration.

(Warrick et al., 2005)

The number of visible rhabdomeres in each ommatidium decreases over time in flies expressing mutant Hsap\HD^GMR.Q120, while there is no reduction in the number of visible rhabdomeres in wild-type flies.

(Ravikumar et al., 2004)

Hsap\HD^GMR.Q120 leads to neurodegeneration in the eye.

(Kanuka et al., 2003)

Retinas expressing Hsap\HD^GMR.Q120 still maintain the arrangement of the facets or ommatidia, indicated by the presence of hexagonal borders containing the darkly stained cirular forms of the photoreceptor rhabdomeres. However, after 1,2, or 5 weeks of age, the arrangement of ommatidia deteriorates.

(Kazemi-Esfarjani and Benzer, 2002)

Flies expressing Hsap\HTT^GMR.Q120 have normal eyes at one day after eclosion, but show severe degeneration of the retina by 10 days of age.

(Chan et al., 2000)

Ommatidial morphology is normal at eclosion but at loss of rhabdomeres is apparent in ommatidia by 2 days after eclosion, and severe by 10 days after eclosion. By 10 days massive cell degeneration is evident in th ommatidia, with nuclear and cytoplasmic condensation, chromatin clumping and increased affinity for osmium. Subcellular organelles appear intact. Nuclear inclusions include distinct 40nm spherical particles, reminiscent of those induced by copia element.

(Jackson et al., 1998)

External Data

Linkouts

Interactions

Show genetic interaction network for Enhancers & Suppressors

Phenotypic Class

Enhanced by

Statement

Reference

Hsap\HTT^GMR.Q120 has abnormal neuroanatomy | progressive phenotype, enhanceable by Scer\GAL4^elav-C155/Psa^NIG.1009R

(Menzies et al., 2010)

Hsap\HTT^GMR.Q120 has abnormal neuroanatomy phenotype, enhanceable by Scer\GAL4^elav-C155/Hsap\SNCA^UAS.cFa

(Winslow et al., 2010)

Hsap\HTT^GMR.Q120 has abnormal neuroanatomy phenotype, enhanceable by Prosβ6¹

(Kanuka et al., 2003)

Suppressed by

Statement

Reference

Hsap\HTT^GMR.Q120 has abnormal neuroanatomy phenotype, suppressible by Scer\GAL4^elav-C155/isoQC^KK108983

(Jimenez-Sanchez et al., 2015)

Hsap\HTT^GMR.Q120 has abnormal neuroanatomy phenotype, suppressible by Scer\GAL4^elav-C155/QC^GD6767

(Jimenez-Sanchez et al., 2015)

Hsap\HTT^GMR.Q120 has abnormal neuroanatomy phenotype, suppressible by Scer\GAL4^elav-C155/QC^KK109667

(Jimenez-Sanchez et al., 2015)

Hsap\HTT^GMR.Q120 has abnormal neuroanatomy phenotype, suppressible by Scer\GAL4^GMR.long/Mmus\Xrcc6^UAS.cTa

(Tamura et al., 2011)

Hsap\HTT^GMR.Q120 has abnormal neuroanatomy | progressive phenotype, suppressible by Psa^GMR.Ex.PK

(Menzies et al., 2010)

Hsap\HTT^GMR.Q120 has increased cell death phenotype, suppressible by Atg1^{ninaE.Tag:MYC}

(Wang et al., 2009)

Hsap\HTT^GMR.Q120 has abnormal neuroanatomy | adult stage | progressive phenotype, suppressible by p53^5A-1-4/p53^5A-1-4

(Bae et al., 2005)

Hsap\HTT^GMR.Q120 has abnormal neuroanatomy | progressive phenotype, suppressible by Scer\GAL4^elav-C155/Hsap\HSPA1L^UAS.cWa

(Chan et al., 2000)

Hsap\HTT^GMR.Q120 has abnormal neuroanatomy | progressive phenotype, suppressible by Scer\GAL4^elav-C155/DnaJ-1^UAS.Tag:FLAG

(Chan et al., 2000)

NOT suppressed by

Statement

Reference

Hsap\HTT^GMR.Q120 has abnormal neuroanatomy | progressive phenotype, non-suppressible by Scer\GAL4^elav-C155/DnaJ-H^UAS.Tag:FLAG

(Chan et al., 2000)

Phenotype Manifest In

Enhanced by

Statement

Reference

Hsap\HTT^GMR.Q120, Scer\GAL4^GMR.PF has rhabdomere | progressive phenotype, enhanceable by CalpA^KK104532/Atg8a^KG07569, Scer\GAL4^GMR.PF

(Menzies et al., 2015)

Hsap\HTT^GMR.Q120 has rhabdomere of eye photoreceptor cell phenotype, enhanceable by Scer\GAL4^elav-C155/Psa^NIG.1009R

(Menzies et al., 2010)

Hsap\HTT^GMR.Q120 has rhabdomere of eye photoreceptor cell phenotype, enhanceable by Scer\GAL4^elav-C155/Hsap\SNCA^UAS.cFa

(Winslow et al., 2010)

Hsap\HTT^GMR.Q120 has eye | progressive phenotype, enhanceable by Rpn11^RNAi.UAS/Scer\GAL4^GMR.PF

(Tonoki et al., 2009)

Hsap\HTT^GMR.Q120 has rhabdomere | progressive phenotype, enhanceable by Rpn11^RNAi.UAS/Scer\GAL4^GMR.PF

(Tonoki et al., 2009)

Hsap\HTT^GMR.Q120 has eye photoreceptor cell phenotype, enhanceable by Trpml¹

(Venkatachalam et al., 2008)

Hsap\HTT^GMR.Q120 has eye photoreceptor cell phenotype, enhanceable by Vps28[+]/Vps28^D2

(Rusten et al., 2007)

Hsap\HTT^GMR.Q120 has eye photoreceptor cell phenotype, enhanceable by Vps25[+]/Vps25^A3

(Rusten et al., 2007)

Hsap\HTT^GMR.Q120 has eye photoreceptor cell phenotype, enhanceable by shrb^G5/shrb[+]

(Rusten et al., 2007)

Hsap\HTT^GMR.Q120 has rhabdomere | conditional phenotype, enhanceable by pan[+]/pan²

(Berger et al., 2005)

Hsap\HTT^GMR.Q120 has eye phenotype, enhanceable by Prosβ6¹

(Kanuka et al., 2003)

Suppressed by

Statement

Reference

Hsap\HTT^GMR.Q120 has rhabdomere phenotype, suppressible by Scer\GAL4^elav-C155/isoQC^KK108983

(Jimenez-Sanchez et al., 2015)

Hsap\HTT^GMR.Q120 has rhabdomere phenotype, suppressible by Scer\GAL4^elav-C155/QC^GD6767

(Jimenez-Sanchez et al., 2015)

Hsap\HTT^GMR.Q120 has rhabdomere phenotype, suppressible by Scer\GAL4^elav-C155/QC^KK109667

(Jimenez-Sanchez et al., 2015)

Hsap\HTT^GMR.Q120, Scer\GAL4^GMR.PF has rhabdomere | progressive phenotype, suppressible by CalpA^KK104532, Scer\GAL4^GMR.PF

(Menzies et al., 2015)

Hsap\HTT^GMR.Q120 has eye phenotype, suppressible by Hsap\HSPA1A^UAS.cTa/Scer\GAL4^54C

(Takeuchi et al., 2015)

Hsap\HTT^GMR.Q120 has rhabdomere phenotype, suppressible by Hsap\HSPA1A^UAS.cTa/Scer\GAL4^54C

(Takeuchi et al., 2015)

Hsap\HTT^GMR.Q120 has eye phenotype, suppressible by Hsap\HSPA1A^UAS.cTa/Scer\GAL4^Mef2.PU

(Takeuchi et al., 2015)

Hsap\HTT^GMR.Q120 has rhabdomere phenotype, suppressible by Hsap\HSPA1A^UAS.cTa/Scer\GAL4^Mef2.PU

(Takeuchi et al., 2015)

Hsap\HTT^GMR.Q120 has eye phenotype, suppressible by Hsap\HSPA1A^UAS.cTa/Scer\GAL4^Lsp2.PH

(Takeuchi et al., 2015)

Hsap\HTT^GMR.Q120 has eye phenotype, suppressible by DnaJ-1^UAS.cTa/Scer\GAL4^GMR.PU

(Takeuchi et al., 2015)

Hsap\HTT^GMR.Q120 has eye phenotype, suppressible by Scer\GAL4^54C/DnaJ-1^UAS.cTa

(Takeuchi et al., 2015)

Hsap\HTT^GMR.Q120 has rhabdomere phenotype, suppressible by Scer\GAL4^54C/DnaJ-1^UAS.cTa

(Takeuchi et al., 2015)

Hsap\HTT^GMR.Q120 has eye phenotype, suppressible by Scer\GAL4^rdhB.PW/DnaJ-1^UAS.cTa

(Takeuchi et al., 2015)

Hsap\HTT^GMR.Q120 has eye phenotype, suppressible by Scer\GAL4^Mef2.PU/DnaJ-1^UAS.cTa

(Takeuchi et al., 2015)

Hsap\HTT^GMR.Q120 has eye phenotype, suppressible by Scer\GAL4^Mhc.PU/DnaJ-1^UAS.cTa

(Takeuchi et al., 2015)

Hsap\HTT^GMR.Q120 has eye phenotype, suppressible by Scer\GAL4^Lsp2.PH/DnaJ-1^UAS.cTa

(Takeuchi et al., 2015)

Hsap\HTT^GMR.Q120 has rhabdomere phenotype, suppressible by Scer\GAL4^Lsp2.PH/DnaJ-1^UAS.cTa

(Takeuchi et al., 2015)

Hsap\HTT^GMR.Q120 has eye phenotype, suppressible by Scer\GAL4^r4/DnaJ-1^UAS.cTa

(Takeuchi et al., 2015)

DnaJ-1^UAS.cKb, Hsap\HTT^GMR.Q120, Scer\GAL4^GMR.PF has eye phenotype, suppressible by Hsp110^UAS.cKa, Scer\GAL4^GMR.PF

(Kuo et al., 2013)

DnaJ-1^UAS.cKb, Hsap\HTT^GMR.Q120, Scer\GAL4^GMR.PF has rhabdomere phenotype, suppressible by Hsp110^UAS.cKa, Scer\GAL4^GMR.PF

(Kuo et al., 2013)

Hsap\HTT^GMR.Q120 has eye phenotype, suppressible by DnaJ-1^UAS.cKb/Scer\GAL4^GMR.PF

(Kuo et al., 2013)

Hsap\HTT^GMR.Q120 has rhabdomere phenotype, suppressible by DnaJ-1^UAS.cKb/Scer\GAL4^GMR.PF

(Kuo et al., 2013)

Hsap\HTT^GMR.Q120 has eye phenotype, suppressible by Hsap\HSPA4L^UAS.cKa/Scer\GAL4^GMR.PF/Hsap\DNAJB1^UAS.cKa

(Kuo et al., 2013)

Hsap\HTT^GMR.Q120 has rhabdomere phenotype, suppressible by Hsap\HSPA4L^UAS.cKa/Scer\GAL4^GMR.PF/Hsap\DNAJB1^UAS.cKa

(Kuo et al., 2013)

Hsap\HTT^GMR.Q120 has eye photoreceptor cell phenotype, suppressible by Scer\GAL4^GMR.long/Mmus\Xrcc6^UAS.cTa

(Tamura et al., 2011)

Hsap\HTT^GMR.Q120 has rhabdomere of eye photoreceptor cell phenotype, suppressible by Psa^GMR.Ex.PK

(Menzies et al., 2010)

Hsap\HTT^GMR.Q120 has rhabdomere | progressive phenotype, suppressible by Rpn11^UAS.cTa/Scer\GAL4^GMR.PF

(Tonoki et al., 2009)

Hsap\HTT^GMR.Q120 has eye | progressive phenotype, suppressible by Rpn11^UAS.cTa/Scer\GAL4^GMR.PF

(Tonoki et al., 2009)

Hsap\HTT^GMR.Q120 has rhabdomere phenotype, suppressible by Atg1^{ninaE.Tag:MYC}

(Wang et al., 2009)

Hsap\HTT^GMR.Q120 has photoreceptor neuron phenotype, suppressible by Atg1^{ninaE.Tag:MYC}

(Wang et al., 2009)

Hsap\HTT^GMR.Q120 has rhabdomere of eye photoreceptor cell phenotype, suppressible by Scer\GAL4^GMR.PF/Rab5^UAS.EGFP

(Ravikumar et al., 2008)

Hsap\HTT^GMR.Q120 has rhabdomere | adult stage phenotype, suppressible by Zzzz\Poly-Ala^{A37.UAS.EGFP,Tag:NLS(SV40-largeT)}/Scer\GAL4^elav-C155

(Berger et al., 2006)

Hsap\HTT^GMR.Q120, Scer\GAL4^GMR.long has eye phenotype, suppressible by Hsap\YAP1^ΔC61.UAS, Scer\GAL4^GMR.long

(Hoshino et al., 2006)

Hsap\HTT^GMR.Q120, Scer\GAL4^GMR.long has eye photoreceptor cell phenotype, suppressible by Hsap\YAP1^ΔC61.UAS, Scer\GAL4^GMR.long

(Hoshino et al., 2006)

Hsap\HTT^GMR.Q120, Scer\GAL4^GMR.long has ommatidium phenotype, suppressible by Hsap\YAP1^ΔC61.UAS, Scer\GAL4^GMR.long

(Hoshino et al., 2006)

Hsap\HTT^GMR.Q120 has rhabdomere of eye photoreceptor cell | progressive phenotype, suppressible by p53^5A-1-4/p53^5A-1-4

(Bae et al., 2005)

Hsap\HTT^GMR.Q120 has eye photoreceptor cell | progressive phenotype, suppressible by p53^5A-1-4/p53^5A-1-4

(Bae et al., 2005)

Hsap\HTT^GMR.Q120 has rhabdomere | conditional phenotype, suppressible by Scer\GAL4^sev.EP/pan^UAS.cWa

(Berger et al., 2005)

Hsap\HTT^GMR.Q120 has retina phenotype, suppressible by Scer\GAL4^elav-C155/Hsap\ATXN3^{fl.Q27.UAS.Tag:MYC}

(Warrick et al., 2005)

Hsap\HTT^GMR.Q120 has retina | progressive phenotype, suppressible by Scer\GAL4^elav-C155/Hsap\HSPA1L^UAS.cWa

(Chan et al., 2000)

Hsap\HTT^GMR.Q120 has retina | progressive phenotype, suppressible by Scer\GAL4^elav-C155/DnaJ-1^UAS.Tag:FLAG

(Chan et al., 2000)

NOT suppressed by

Statement

Reference

Hsap\HTT^GMR.Q120 has rhabdomere phenotype, non-suppressible by Scer\GAL4^Lsp2.PH/Hsap\HSPA1A^dS.UAS

(Takeuchi et al., 2015)

Hsap\HTT^GMR.Q120 has eye phenotype, non-suppressible by Scer\GAL4^Mef2.PU/Hsap\HSPA1A^dS.UAS

(Takeuchi et al., 2015)

Hsap\HTT^GMR.Q120 has rhabdomere phenotype, non-suppressible by Scer\GAL4^Mef2.PU/Hsap\HSPA1A^dS.UAS

(Takeuchi et al., 2015)

Hsap\HTT^GMR.Q120 has eye phenotype, non-suppressible by Scer\GAL4^Lsp2.PH/Hsap\HSPA1A^dS.UAS

(Takeuchi et al., 2015)

Hsap\HTT^GMR.Q120 has eye phenotype, non-suppressible by Scer\GAL4^rdhB.PW/DnaJ-1^UAS.cTa/Ykt6^RNAi.UAS.cUa

(Takeuchi et al., 2015)

Hsap\HTT^GMR.Q120 has rhabdomere phenotype, non-suppressible by Scer\GAL4^rdhB.PW/DnaJ-1^UAS.cTa/Ykt6^RNAi.UAS.cUa

(Takeuchi et al., 2015)

Hsap\HTT^GMR.Q120 has eye phenotype, non-suppressible by Scer\GAL4^Lsp2.PH/DnaJ-1^UAS.cTa/Ykt6^RNAi.UAS.cUa

(Takeuchi et al., 2015)

Hsap\HTT^GMR.Q120 has rhabdomere phenotype, non-suppressible by Scer\GAL4^Lsp2.PH/DnaJ-1^UAS.cTa/Ykt6^RNAi.UAS.cUa

(Takeuchi et al., 2015)

Hsap\HTT^GMR.Q120 has rhabdomere phenotype, non-suppressible by Hsap\HSPH1^UAS.cKa/Scer\GAL4^GMR.PF

(Kuo et al., 2013)

Hsap\HTT^GMR.Q120 has eye phenotype, non-suppressible by Hsap\HSPA4L^UAS.cKa/Scer\GAL4^GMR.PF

(Kuo et al., 2013)

Hsap\HTT^GMR.Q120 has rhabdomere phenotype, non-suppressible by Hsap\HSPA4L^UAS.cKa/Scer\GAL4^GMR.PF

(Kuo et al., 2013)

Hsap\HTT^GMR.Q120 has eye phenotype, non-suppressible by Hsp110^UAS.cKa/Scer\GAL4^GMR.PF

(Kuo et al., 2013)

Hsap\HTT^GMR.Q120 has rhabdomere phenotype, non-suppressible by Hsp110^UAS.cKa/Scer\GAL4^GMR.PF

(Kuo et al., 2013)

Hsap\HTT^GMR.Q120 has eye phenotype, non-suppressible by Scer\GAL4^GMR.PF/Hsap\DNAJB1^UAS.cKa

(Kuo et al., 2013)

Hsap\HTT^GMR.Q120 has rhabdomere phenotype, non-suppressible by Scer\GAL4^GMR.PF/Hsap\DNAJB1^UAS.cKa

(Kuo et al., 2013)

Hsap\HTT^GMR.Q120 has eye phenotype, non-suppressible by Hsap\HSPH1^UAS.cKa/Scer\GAL4^GMR.PF

(Kuo et al., 2013)

Hsap\HTT^GMR.Q120 has rhabdomere | adult stage phenotype, non-suppressible by Scer\GAL4^elav-C155/Zzzz\Poly-Ala^{A7.UAS.EGFP,Tag:NLS(SV40-largeT)}

(Berger et al., 2006)

Hsap\HTT^GMR.Q120 has eye photoreceptor cell phenotype, non-suppressible by Scer\GAL4^elav-C155/Hsap\VCP^UAS.cBa

(Boeddrich et al., 2006)

Hsap\HTT^GMR.Q120 has retina | progressive phenotype, non-suppressible by Scer\GAL4^elav-C155/DnaJ-H^UAS.Tag:FLAG

(Chan et al., 2000)

Hsap\HTT^GMR.Q120 has phenotype, non-suppressible by BacA\p35^GMR.PH

(Jackson et al., 1998)

Additional Comments

Genetic Interactions

Statement

Reference

Xenogenetic Interactions

Statement

Reference

Co-expression of Scer\GAL4^GMR.PF>CalpA^KK104532 partially suppresses the toxicity of Hsap\HTT^GMR.Q120 in the eye.

Co-expression of CalpA^KK104532 in an Atg8a^KG07569 mutant genetic background exacerbates the toxicity of Hsap\HTT^GMR.Q120 expression in the eye.

(Menzies et al., 2015)

Expression of Hsap\HSPA1A^Scer\UAS.cTa in the pigment cells under the control of Scer\GAL4^54C partially suppresses the eye degeneration seen in flies expressing Hsap\HTT^GMR.Q120. There is a significant increase in the number of rhabdomeres per ommatidium compared to Hsap\HTT^GMR.Q120 alone.

Expression of Hsap\HSPA1A^Scer\UAS.cTa in either muscle (under the control of Scer\GAL4^Mef2.PU) or fat body (using Scer\GAL4^Lsp2.PH) partially suppresses the photoreceptor degeneration and reduction in the number of rhabdomeres per ommatidium seen in Hsap\HTT^GMR.Q120 mutant flies.

Expression of Hsap\HSPA1A^dS.Scer\UAS in either muscle (under the control of Scer\GAL4^Mef2.PU) or fat body (using Scer\GAL4^Lsp2.PH) does not suppress the photoreceptor degeneration and reduction in the number of rhabdomeres per ommatidium seen in Hsap\HTT^GMR.Q120 mutant flies.

Expression of Ykt6^{dsRNA.Scer\UAS.cUa} under the control of Scer\GAL4^rdhB.PW does not suppress the eye degeneration seen in flies expressing Hsap\HTT^GMR.Q120.

Expression of DnaJ-1^Scer\UAS.cTa in photoreceptors under the control of Scer\GAL4^GMR.PU suppresses the eye degeneration seen in flies expressing Hsap\HTT^GMR.Q120.

Expression of DnaJ-1^Scer\UAS.cTa in the pigment cells under the control of Scer\GAL4^54C partially suppresses the eye degeneration seen in flies expressing Hsap\HTT^GMR.Q120. There is a significant increase in the number of rhabdomeres per ommatidium compared to Hsap\HTT^GMR.Q120 alone. Expression under the control of another pigment cell driver, Scer\GAL4^rdhB.PW, also suppresses the degeneration, and this suppression can be canceled out by co-expressing Ykt6^{dsRNA.Scer\UAS.cUa}.

Expression of DnaJ-1^Scer\UAS.cTa in either muscle (under the control of Scer\GAL4^Mef2.PU or Scer\GAL4^Mhc.PU) or fat body (using Scer\GAL4^Lsp2.PH or Scer\GAL4^r4) partially suppresses the photoreceptor degeneration seen in Hsap\HTT^GMR.Q120 mutant flies. When DnaJ-1^Scer\UAS.cTa and Ykt6^{dsRNA.Scer\UAS.cUa} are co-expressed under the control of Scer\GAL4^Lsp2.PH no suppression of the Hsap\HTT^GMR.Q120 phenotype is seen.

(Takeuchi et al., 2015)

Expression of DnaJ-1^Scer\UAS.cKb under the control of Scer\GAL4^GMR.PF slows the neural eye degeneration caused by expression of Hsap\HTT^GMR.Q120. Some degeneration is observed at 10 days, and complete photoreceptor neuron loss is observed at 15 days.

Expression of Hsc70Cb^Scer\UAS.cKa under the control of Scer\GAL4^GMR.PF has no effect on neural eye degeneration caused by expression of Hsap\HTT^GMR.Q120.

Hsc70Cb^Scer\UAS.cKa suppresses the neural eye degeneration caused by seen when Hsap\HTT^GMR.Q120 and DnaJ-1^Scer\UAS.cKb are expressed under the control of Scer\GAL4^GMR.PF. Essentially normal morphology is seen in the retinas of these flies at 10 days, although some degeneration is seen at 15 days.

Expression of Hsap\DNAJB1^Scer\UAS.cKa under the control of Scer\GAL4^GMR.PF does not suppress the photoreceptor loss phenotype seen upon expression of Hsap\HTT^GMR.Q120. Complete loss of rhabdomeres and severe degeneration of photoreceptor cell is detected in the retinae of 7 day old flies.

Expression of Hsap\HSPA4L^Scer\UAS.cKa under the control of Scer\GAL4^GMR.PF does not suppress the photoreceptor loss phenotype seen upon expression of Hsap\HTT^GMR.Q120. Complete loss of rhabdomeres and severe degeneration of photoreceptor cell is detected in 7 day old flies.

Co-expression of Hsap\DNAJB1^Scer\UAS.cKa and Hsap\HSPA4L^Scer\UAS.cKa under the control of Scer\GAL4^GMR.PF partially suppresses the photoreceptor loss phenotype seen upon expression of Hsap\HTT^GMR.Q120. Many normal photoreceptor cells are seen in the retinae of 7 day old flies.

(Kuo et al., 2013)

Expression of Mmus\Xrcc6^Scer\UAS.cTa under the control of Scer\GAL4^GMR.long partially suppresses the photoreceptor degeneration seen in newly eclosed Hsap\HTT^GMR.Q120 flies.

(Tamura et al., 2011)

Overexpression of Psa^GMR.Ex.PK in flies also expressing Hsap\HTT^GMR.Q120 increases the number of visible photoreceptors.

Co-expression of Scer\GAL4^elav-C155>Psa^NIG.1009R enhances the toxicity of Hsap\HTT^GMR.Q120.

(Menzies et al., 2010)

Co-expression of Rpn11^Scer\UAS.cTa (under the control of Scer\GAL4^GMR.PF) suppresses the age-related rhabdomeric loss seen in flies expressing Hsap\HTT^GMR.Q120.

Co-expression of Rpn11^{dsRNA.Scer\UAS} (under the control of Scer\GAL4^GMR.PF) enhances the age-related rhabdomeric loss seen in flies expressing Hsap\HTT^GMR.Q120.

Polyglutamine aggregation is significantly enhanced when Rpn11^{dsRNA.Scer\UAS} is expressed under the control of Scer\GAL4^GMR.PF in Hsap\HTT^GMR.Q120 flies.

(Tonoki et al., 2009)

Overexpression of Tsc1^Scer\UAS.cGa or gig^Scer\UAS.cTa under the control of Scer\GAL4^GMR.PU largely suppresses neural degeneration caused by expression of Hsap\HTT^GMR.Q120.

Direct induction of autophagy through expression of Atg1^{ninaE.T:Hsap\MYC} suppresses photoreceptor cell death in Hsap\HTT^GMR.Q120 flies.

(Wang et al., 2009)

trpml¹ enhances the rate of age-dependent degeneration of photoreceptors that is caused by expression of Hsap\HD^GMR.Q120.

(Venkatachalam et al., 2008)

The loss of photoreceptors that is seen in flies expressing Hsap\HD^GMR.Q120 is enhanced if the flies also carry one copy of Vps28^D2, Vps25^A3 or shrb^G5.

(Rusten et al., 2007)

Expression of Zzzz\Poly-Ala^{A37.Scer\UAS.T:Avic\GFP-EGFP,T:SV40\nls2} under the control of Scer\GAL4^elav-C155 suppresses the loss of rhabdomeres seen when Hsap\HTT^GMR.Q120 is expressed. An increase in visible rhabdomeres is seen at 1, 2 and 4 days post-eclosion.

Expression of Zzzz\Poly-Ala^{A7.Scer\UAS.T:Avic\GFP-EGFP,T:SV40\nls2} under the control of Scer\GAL4^elav-C155 is unable to suppress the rhabdomere loss seen in flies expressing Hsap\HTT^GMR.Q120.

(Berger et al., 2006)

Co-expression of Hsap\VCP^Scer\UAS.cBa, under the control of Scer\GAL4^elav-C155, with Hsap\HD^GMR.Q120 has no effect on the Hsap\HD^GMR.Q120 eye degeneration phenotype.

(Boeddrich et al., 2006)

Expression of Hsap\YAP1^{ΔC61.Scer\UAS} in the developing and adult eye, under the control of Scer\GAL4^GMR.long suppresses disruption of photoreceptor neurons and ommatidial structure in Hsap\HD^GMR.Q120/Scer\GAL4^GMR.long flies.

(Hoshino et al., 2006)

p53^5A-1-4/p53^5A-1-4 significantly partially suppresses age-dependent degeneration of rhabdomeres and photoreceptor cells in Hsap\HTT^GMR.Q120 flies.

(Bae et al., 2005)

Heterozygosity for either arm¹ or arm⁴ partially abolishes the protective effect of Li[+] with respect to photoreceptor loss in Hsap\HTT^GMR.Q120 flies.

Expression of pan^Scer\UAS.cWa under the control of Scer\GAL4^sev.EP partially suppresses the loss of rhabdomeres seen in Hsap\HTT^GMR.Q120 flies.

Heterozygosity for pan² enhances the loss of rhabdomeres seen in Hsap\HTT^GMR.Q120 flies.

(Berger et al., 2005)

Co-expression of Hsap\MJD^{fl.Q27.Scer\UAS.T:Hsap\MYC} under the control of Scer\GAL4^elav-C155 suppresses the retinal degeneration seen in 10 day old flies expressing Hsap\HD^GMR.Q120.

(Warrick et al., 2005)

The presence of one or two copies of Mlf^Scer\UAS.cKa (with the Scer\GAL4^GMR.PF driver) suppresses the deterioration of eye structure found in flies expressing Hsap\HD^GMR.Q120.

(Kazemi-Esfarjani and Benzer, 2002)

Expression of Hsap\HSPA1L^Scer\UAS.cWa under the control of Scer\GAL4^elav-C155 restores eye structure in 10 day old flies expressing Hsap\HTT^GMR.Q120, such that photoreceptor neurons appear normal.

Expression of DnaJ-1^{Scer\UAS.T:Zzzz\FLAG} under the control of Scer\GAL4^elav-C155 only slightly suppresses the retinal degeneration seen in 10 day old flies expressing Hsap\HTT^GMR.Q120.

Expression of DnaJ-H^{Scer\UAS.T:Zzzz\FLAG} does not suppress the retinal degeneration seen in 10 day old flies expressing Hsap\HTT^GMR.Q120.

(Chan et al., 2000)

Complementation and Rescue Data

Comments

Images (0)

Mutant

Wild-type

Stocks (2)

Bloomington

8533

y¹ w¹¹¹⁸; P{GMR-HTT.Q120}2.4

8534

w¹¹¹⁸; wg^Sp-1/CyO; P{GMR-HTT.Q120}4.62/TM6B, Tb¹

Notes on Origin

Discoverer

Comments

Several lines containing Hsap\HD^GMR.Q120 show somatic and germline instability.

(Jackson et al., 1998)

External Crossreferences and Linkouts ( 0 )

Synonyms and Secondary IDs (2)

Reported As

Symbol Synonym

Hsap\HD^GMR.Q120

Hsap\HTT^GMR.Q120

Name Synonyms

Secondary FlyBase IDs

References (29)

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