FlyBase Allele Report: Hsap\HTT[NT.128Q.UAS]

General Information

Symbol

Hsap\HTT^NT.128Q.UAS

Species

H. sapiens

Name

FlyBase ID

FBal0197899

Feature type

allele

Associated gene

Hsap\HTT

Associated Insertion(s)

Carried in Construct

P{UAS-HTT.NT.128Q}

Also Known As

NT-HTT128Q

Key Links

Transgenic product class

inframe_deletion

(Al-Ramahi et al., 2006)

trinucleotide_repeat_expansion

(Al-Ramahi et al., 2006)

Mutagen

in vitro construct

Nature of the Allele

Transgenic product class

inframe_deletion

(Al-Ramahi et al., 2006)

trinucleotide_repeat_expansion

(Al-Ramahi et al., 2006)

Mutagen

in vitro construct

(Al-Ramahi et al., 2006)

Progenitor genotype

Carried in construct

P{UAS-HTT.NT.128Q}

Cytology

Description

UAS regulatory sequences drive expression of amino acids 1-276 of Hsap\HTT which contains an expanded 128Q repeat.

(Al-Ramahi et al., 2006)

Allele components

Component

Use(s)

Regulatory region(s)

UAS

binary expression system - 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

(Yao et al., 2015, Lu et al., 2014, Lu et al., 2013, Miller et al., 2012, Zhang et al., 2012, Al-Ramahi et al., 2007, Al-Ramahi et al., 2006)

Modifiers Based on Experimental Evidence ( 1 )

Disease

Interaction

References

model of Huntington's disease

is ameliorated by S-Lap1^GD11904

(Lu et al., 2013)

is exacerbated by CG15445^KK104296

(Lu et al., 2013)

is ameliorated by Pvf1^d06222

(Lu et al., 2013)

is exacerbated by Pvf1^KG01713

(Lu et al., 2013)

is exacerbated by Sec61β⁰⁷²¹⁴

(Lu et al., 2013)

is ameliorated by Hsap\NUB1^UAS.cLa

(Lu et al., 2013)

is exacerbated by Sec61γ^VDRC.cUa

(Lu et al., 2013)

is ameliorated by Hsap\STUB1^UAS.cAa

(Al-Ramahi et al., 2006)

is ameliorated by Dgkε^GD1964

(Zhang et al., 2012)

is exacerbated by GAPcenA^f01044

(Yao et al., 2015)

is ameliorated by DopEcR^MI02790

(Yao et al., 2015)

is ameliorated by DopEcR^KK111211

(Yao et al., 2015)

is exacerbated by GAPcenA^KK101516

(Yao et al., 2015)

is ameliorated by tefu^atm-6

(Lu et al., 2014)

is ameliorated by Raf^GD9831

(Miller et al., 2012)

is ameliorated by Dsor1^GD9123

(Miller et al., 2012)

is ameliorated by Dsor1^S-1221

(Miller et al., 2012)

is ameliorated by Ras64B^GD1517

(Miller et al., 2012)

is ameliorated by dod^GD9274

(Miller et al., 2012)

is ameliorated by polo⁰¹⁶⁷³

(Miller et al., 2012)

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

Disease-implicated variant(s)

This allele represents a human variant implicated in disease.

(Al-Ramahi et al., 2006)

HTT:p.Gln18[128]

(FlyBase curators, 2019-)

Variants Synonym(s)

HTT:p.Gln18[128Gln]

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, with Scer\GAL4^elav-C155

(Lu et al., 2013, Zhang et al., 2012)

abnormal locomotor behavior | adult stage | progressive, with Scer\GAL4^nrv2.PU

(Al-Ramahi et al., 2007)

increased cell death, with Scer\GAL4^GMR.PF

(Lu et al., 2013)

Phenotype Manifest In

eye, with Scer\GAL4^GMR.PF

(Lu et al., 2013)

photoreceptor neuron | adult stage | progressive, with Scer\GAL4^GMR.PU

(Al-Ramahi et al., 2007)

retina, with Scer\GAL4^GMR.PF

(Lu et al., 2013, Al-Ramahi et al., 2006)

retina | adult stage | progressive, with Scer\GAL4^GMR.PU

(Al-Ramahi et al., 2007)

Detailed Description

Statement

Reference

Expression of Hsap\HTT^{NT.128Q.Scer\UAS} under the control of Scer\GAL4^elav-C155 induces rapid and steep age-progressive decline of locomotor abilities of adult flies.

(Yao et al., 2015)

Expression of Hsap\HTT^{NT.128Q.Scer\UAS} in the nervous system (under the control of Scer\GAL4^elav-C155) induces a reproducible and quantifiable motor performance impairment as measured by the percentage of Hsap\HTT^{NT.128Q.Scer\UAS} flies able to ascend the walls of a glass cylinder, compared to controls.

Expression of Hsap\HTT^{NT.128Q.Scer\UAS} in the developing eye, under the control of Scer\GAL4^GMR.PF, results in cell loss and retinal shrinking.

(Lu et al., 2013)

Expression of Hsap\HTT^{NT.128Q.Scer\UAS} in the nervous system, under the control of Scer\GAL4^elav-C155 leads to progressive motor performance deficits compared to wild-type animals.

(Zhang et al., 2012)

Expression of Hsap\HTT^{NT.128Q.Scer\UAS} under the control of Scer\GAL4^GMR.PU results in age-progressive retina degeneration with severely disorganized or missing photoreceptors.

(Al-Ramahi et al., 2007)

Expression of Hsap\HD^{NT.128Q.Scer\UAS} under the control of Scer\GAL4^GMR.PF causes progressive retinal degeneration with severe vacuolisation.

(Al-Ramahi et al., 2006)

External Data

Linkouts

Interactions

Show genetic interaction network for Enhancers & Suppressors

Phenotypic Class

Enhanced by

Statement

Reference

Hsap\HTT^NT.128Q.UAS, Scer\GAL4^elav-C155 has abnormal locomotor behavior | adult stage | progressive phenotype, enhanceable by GAPcenA^KK101516, Scer\GAL4^elav-C155

(Yao et al., 2015)

Hsap\HTT^NT.128Q.UAS, Scer\GAL4^elav-C155 has abnormal locomotor behavior | adult stage | progressive phenotype, enhanceable by GAPcenA^f01044, Scer\GAL4^elav-C155

(Yao et al., 2015)

Hsap\HTT^NT.128Q.UAS, Scer\GAL4^elav-C155 has abnormal locomotor behavior phenotype, enhanceable by CG15445^KK104296, Scer\GAL4^elav-C155

(Lu et al., 2013)

Hsap\HTT^NT.128Q.UAS, Scer\GAL4^elav-C155 has abnormal locomotor behavior phenotype, enhanceable by Pvf1^KG01713, Scer\GAL4^elav-C155

(Lu et al., 2013)

Hsap\HTT^NT.128Q.UAS, Scer\GAL4^elav-C155 has abnormal locomotor behavior phenotype, enhanceable by Sec61β⁰⁷²¹⁴, Scer\GAL4^elav-C155

(Lu et al., 2013)

Hsap\HTT^NT.128Q.UAS, Scer\GAL4^elav-C155 has abnormal locomotor behavior phenotype, enhanceable by Sec61γ^VDRC.cUa, Scer\GAL4^elav-C155

(Lu et al., 2013)

Suppressed by

Statement

Reference

Hsap\HTT^NT.128Q.UAS, Scer\GAL4^elav-C155 has abnormal locomotor behavior | adult stage | progressive phenotype, suppressible by DopEcR^MI02790, Scer\GAL4^elav-C155

(Yao et al., 2015)

Hsap\HTT^NT.128Q.UAS, Scer\GAL4^elav-C155 has abnormal locomotor behavior | adult stage | progressive phenotype, suppressible | partially by DopEcR^KK111211, Scer\GAL4^elav-C155

(Yao et al., 2015)

Hsap\HTT^NT.128Q.UAS, Scer\GAL4^GMR.PF has increased cell death phenotype, suppressible by Scer\GAL4^elav-C155/Hsap\NUB1^UAS.cLa

(Lu et al., 2013)

Hsap\HTT^NT.128Q.UAS, Scer\GAL4^elav-C155 has abnormal locomotor behavior phenotype, suppressible by Hsap\NUB1^UAS.cLa, Scer\GAL4^elav-C155

(Lu et al., 2013)

Hsap\HTT^NT.128Q.UAS, Scer\GAL4^elav-C155 has abnormal locomotor behavior phenotype, suppressible by S-Lap1^GD11904, Scer\GAL4^elav-C155

(Lu et al., 2013)

Hsap\HTT^NT.128Q.UAS, Scer\GAL4^elav-C155 has abnormal locomotor behavior phenotype, suppressible by Pvf1^d06222, Scer\GAL4^elav-C155

(Lu et al., 2013)

Hsap\HTT^NT.128Q.UAS, Scer\GAL4^elav-C155 has abnormal locomotor behavior phenotype, suppressible by Dgkε^GD1964, Scer\GAL4^elav-C155

(Zhang et al., 2012)

NOT suppressed by

Statement

Reference

Hsap\HTT^NT.128Q.UAS, Scer\GAL4^nrv2.PU has abnormal locomotor behavior | adult stage | progressive phenotype, non-suppressible by Atx2^X1/Atx2[+]

(Al-Ramahi et al., 2007)

Phenotype Manifest In

Enhanced by

Statement

Reference

Hsap\HTT^NT.128Q.UAS, Scer\GAL4^GMR.PF has retina phenotype, enhanceable by CG15445^KK104296, Scer\GAL4^GMR.PF

(Lu et al., 2013)

Hsap\HTT^NT.128Q.UAS, Scer\GAL4^GMR.PF has eye phenotype, enhanceable by CG15445^KK104296, Scer\GAL4^GMR.PF

(Lu et al., 2013)

Suppressed by

Statement

Reference

Hsap\HTT^NT.128Q.UAS, Scer\GAL4^GMR.PF has retina phenotype, suppressible by Hsap\NUB1^UAS.cLa, Scer\GAL4^GMR.PF

(Lu et al., 2013)

Hsap\HTT^NT.128Q.UAS, Scer\GAL4^GMR.PF has eye phenotype, suppressible by Hsap\NUB1^UAS.cLa, Scer\GAL4^GMR.PF

(Lu et al., 2013)

Hsap\HTT^NT.128Q.UAS, Scer\GAL4^GMR.PF has retina phenotype, suppressible by Hsap\STUB1^UAS.cAa, Scer\GAL4^GMR.PF

(Al-Ramahi et al., 2006)

NOT suppressed by

Statement

Reference

Hsap\HTT^NT.128Q.UAS, Scer\GAL4^GMR.PU has retina | adult stage | progressive phenotype, non-suppressible by Atx2^X1/Atx2[+]

(Al-Ramahi et al., 2007)

Hsap\HTT^NT.128Q.UAS has photoreceptor neuron | adult stage | progressive phenotype, non-suppressible by Atx2^X1/Atx2[+]

(Al-Ramahi et al., 2007)

Additional Comments

Genetic Interactions

Statement

Reference

Xenogenetic Interactions

Statement

Reference

The accelerated age-progressive decline of locomotor ability of adult flies expressing Hsap\HTT^{NT.128Q.Scer\UAS} under the control of Scer\GAL4^elav-C155 is strongly improved by co-expression of either DopEcR^MI02790 or DopEcR^KK111211 and further worsened by co-expression of either GAPcenA^KK101516 or GAPcenA^f01044.

(Yao et al., 2015)

Co-expression of Hsap\NUB1^Scer\UAS.cLa in the nervous system, under the control of Scer\GAL4^elav-C155 suppresses the motor performance impairments seen upon expression of Hsap\HTT^{NT.128Q.Scer\UAS}.

Expression of Hsap\NUB1^Scer\UAS.cLa in the fly retina, under the control of Scer\GAL4^GMR.PF, suppresses the cell loss and retinal shrinkage caused by Hsap\HTT^{NT.128Q.Scer\UAS} expression.

Co-expression of CG15445^KK104296 with Hsap\HTT^{NT.128Q.Scer\UAS} in the nervous system, under the control of Scer\GAL4^elav-C155 enhances the motor performance defects found upon expression of Hsap\HTT^{NT.128Q.Scer\UAS} alone.

Expression of CG15445^KK104296 under the control of Scer\GAL4^GMR.PF exacerbates the retinal phenotype seen upon Hsap\HTT^{NT.128Q.Scer\UAS} expression.

Co-expression of S-Lap1^GD11904 with Hsap\HTT^{NT.128Q.Scer\UAS} in the nervous system, under the control of Scer\GAL4^elav-C155 enhances the motor performance defects found upon expression of Hsap\HTT^{NT.128Q.Scer\UAS} alone.

Co-expression of Pvf1^d06222 with Hsap\HTT^{NT.128Q.Scer\UAS} in the nervous system, under the control of Scer\GAL4^elav-C155 suppresses the motor performance defects found upon expression of Hsap\HTT^{NT.128Q.Scer\UAS} alone.

Co-expression of Pvf1^KG01713 with Hsap\HTT^{NT.128Q.Scer\UAS} in the nervous system, under the control of Scer\GAL4^elav-C155 enhances the motor performance defects found upon expression of Hsap\HTT^{NT.128Q.Scer\UAS} alone.

Co-expression of Sec61β⁰⁷²¹⁴ with Hsap\HTT^{NT.128Q.Scer\UAS} in the nervous system, under the control of Scer\GAL4^elav-C155 enhances the motor performance defects found upon expression of Hsap\HTT^{NT.128Q.Scer\UAS} alone.

Co-expression of Sec61γ^VDRC.cUa with Hsap\HTT^{NT.128Q.Scer\UAS} in the nervous system, under the control of Scer\GAL4^elav-C155 enhances the motor performance defects found upon expression of Hsap\HTT^{NT.128Q.Scer\UAS} alone.

(Lu et al., 2013)

Decreasing the level of Dgkε through expression of Dgkε^GD1964 under the control of Scer\GAL4^elav-C155 significantly ameliorates the toxic effects of Hsap\HTT^{NT.128Q.Scer\UAS} expression.

(Zhang et al., 2012)

Neither the age-progressive retina degeneration nor the decline of climbing abilities characteristic for adult flies expressing Hsap\HTT^{NT.128Q.Scer\UAS} under the control of the Scer\GAL4^GMR.PU or the Scer\GAL4^nrv2.PU driver, respectively, can be suppressed by combination with Atx2^X1 in a heterozygous state.

(Al-Ramahi et al., 2007)

Co-expression of Hsap\STUB1^Scer\UAS.cAa suppresses the retina defects caused by expression of Hsap\HD^{NT.128Q.Scer\UAS} under the control of Scer\GAL4^GMR.PF.

(Al-Ramahi et al., 2006)

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 (3)

Reported As

Symbol Synonym

Hsap\HD^{NT.128Q.Scer\UAS}

Hsap\HTT^{NT.128Q.Scer\UAS}

Hsap\HTT^NT.128Q.UAS

Name Synonyms

Secondary FlyBase IDs

References (8)

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