FlyBase Allele Report: Hsap\HTT[103Q.Ex1.UAS]

General Information

Symbol

Hsap\HTT^103Q.Ex1.UAS

Species

H. sapiens

Name

FlyBase ID

FBal0268848

Feature type

allele

Associated gene

Hsap\HTT

Associated Insertion(s)

Carried in Construct

P{UAS-Htt.103Q}

Key Links

Transgenic product class

inframe_deletion

(Tamura et al., 2011)

trinucleotide_repeat_expansion

(Tamura et al., 2011)

Mutagen

in vitro construct - regulatory fusion

Nature of the Allele

Transgenic product class

inframe_deletion

(Tamura et al., 2011)

trinucleotide_repeat_expansion

(Tamura et al., 2011)

Mutagen

in vitro construct - regulatory fusion

(Tamura et al., 2011)

Progenitor genotype

Carried in construct

P{UAS-Htt.103Q}

Cytology

Description

UAS regulatory sequences drive expression of Hsap\HTT exon 1 with a polyQ tract length of 103 residues.

(Tamura et al., 2011)

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

(Shiraishi et al., 2014, Tamura et al., 2011)

Modifiers Based on Experimental Evidence ( 1 )

Disease

Interaction

References

model of Huntington's disease

is ameliorated by Irbp^KK101447

(Tamura et al., 2011)

model of neurodegenerative disease

is ameliorated by TER94^GS10258

(Fujita et al., 2013)

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

Disease-implicated variant(s)

This allele represents a human variant implicated in disease.

(Tamura et al., 2011)

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 behavior, with Scer\GAL4^repo

(Tamura et al., 2009)

abnormal locomotor behavior, with Scer\GAL4^gcm.PU

(Tamura et al., 2009)

abnormal locomotor behavior | adult stage, with Scer\GAL4^repo

(Tamura et al., 2009)

abnormal neuroanatomy, with Scer\GAL4^GMR.long

(Tamura et al., 2011)

abnormal neuroanatomy | adult stage, with Scer\GAL4^repo

(Tamura et al., 2009)

partially lethal - majority die, with Scer\GAL4^gcm.PU

(Tamura et al., 2009)

short lived, with Scer\GAL4^gcm.PU

(Tamura et al., 2009)

short lived, with Scer\GAL4^RapGAP1-OK6

(Fujita et al., 2013, Tamura et al., 2011)

short lived, with Scer\GAL4^repo

(Tamura et al., 2009)

viable, with Scer\GAL4^RapGAP1-OK6

(Tamura et al., 2011)

viable, with Scer\GAL4^repo

(Tamura et al., 2009)

Phenotype Manifest In

adult CNS glial cell, with Scer\GAL4^repo

(Tamura et al., 2009)

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

(Tamura et al., 2011)

lamina, with Scer\GAL4^repo

(Tamura et al., 2009)

photoreceptor neuron | adult stage, with Scer\GAL4^repo

(Tamura et al., 2009)

retina, with Scer\GAL4^repo

(Tamura et al., 2009)

Detailed Description

Statement

Reference

Expression of Hsap\HTT^{103Q.Ex1.Scer\UAS} under the control of Scer\GAL4^RapGAP1-OK6 results in a shortened lifespan compared to controls in both males and females.

(Fujita et al., 2013)

Flies expressing Hsap\HTT^{103Q.Ex1.Scer\UAS} under the control of Scer\GAL4^RapGAP1-OK6 are viable but short lived compared to controls.

(Tamura et al., 2011)

Scer\GAL4^repo Hsap\HTT^{103Q.Ex1.Scer\UAS} flies are completely viable, though adults show lifespan shortening (all die by day 14) and abnormal motor activities (negative geotaxis assay) at day 7. Spontaneous activity is partially arrhythmic and decreases gradually during the test period.

The majority of Scer\GAL4^gcm.PU Hsap\HTT^{103Q.Ex1.Scer\UAS} animals do not eclose. Those that do eclose show lifespan shortening (all die by day 6) and they are unable to move within a few days.

Scer\GAL4^repo Hsap\HTT^{103Q.Ex1.Scer\UAS} adult brains show vacuolar changes in the retina and lamina. The number or signal intensity of glial cells is reduced, and photoreceptor cells show abnormal alignment and morphology in the retina.

Scer\GAL4^gcm.PU Hsap\HTT^{103Q.Ex1.Scer\UAS} adult brains do not show vacuolar changes and morphological change is not remarkable.

(Tamura et al., 2009)

External Data

Linkouts

Interactions

Show genetic interaction network for Enhancers & Suppressors

Phenotypic Class

Enhanced by

Statement

Reference

Hsap\HTT^103Q.Ex1.UAS, Scer\GAL4^RapGAP1-OK6 has short lived phenotype, enhanceable by Irbp[+]/Irbp^EX8

(Tamura et al., 2011)

Suppressed by

Statement

Reference

Hsap\HTT^103Q.Ex1.UAS, Scer\GAL4^RapGAP1-OK6 has short lived phenotype, suppressible by TER94^GS10258, Scer\GAL4^RapGAP1-OK6

(Fujita et al., 2013)

Hsap\HTT^103Q.Ex1.UAS, Scer\GAL4^GMR.long has abnormal neuroanatomy phenotype, suppressible | partially by Irbp^+t8.8

(Tamura et al., 2011)

Hsap\HTT^103Q.Ex1.UAS, Scer\GAL4^RapGAP1-OK6 has short lived phenotype, suppressible by Mmus\Xrcc6^UAS.cTa, Scer\GAL4^RapGAP1-OK6

(Tamura et al., 2011)

Other

Statement

Reference

Hsap\HTT^103Q.Ex1.UAS, Mmus\Xrcc6^UAS.cTa, Scer\GAL4^RapGAP1-OK6 has viable phenotype

(Tamura et al., 2011)

Hsap\HTT^103Q.Ex1.UAS, Irbp^EX8/Irbp^7B2, Scer\GAL4^RapGAP1-OK6 has abnormal locomotor behavior phenotype

(Tamura et al., 2011)

Phenotype Manifest In

Suppressed by

Statement

Reference

Hsap\HTT^103Q.Ex1.UAS, Scer\GAL4^GMR.long has eye photoreceptor cell phenotype, suppressible | partially by Irbp^+t8.8

(Tamura et al., 2011)

Additional Comments

Genetic Interactions

Statement

Reference

Xenogenetic Interactions

Statement

Reference

Co-expression of TER94^GS10258 partially rescues in males the shortened lifespan caused by expression of Hsap\HTT^{103Q.Ex1.Scer\UAS} under the control of Scer\GAL4^RapGAP1-OK6.

(Fujita et al., 2013)

Irbp^+t8.8 partially suppresses the photoreceptor degeneration seen in flies expressing Hsap\HTT^{103Q.Ex1.Scer\UAS} under the control of Scer\GAL4^GMR.long.

Heterozygosity for Irbp^EX8 enhances the shortened lifespan phenotype caused by expression of Hsap\HTT^{103Q.Ex1.Scer\UAS} under the control of Scer\GAL4^GMR.long. This enhancing effect is seen in females but not males.

Flies expressing Hsap\HTT^{103Q.Ex1.Scer\UAS} under the control of Scer\GAL4^Rapgap1-OK6 in a Irbp^7B2/Irbp^EX8 background show an enhanced age-dependent decline in climbing ability compared to control flies.

(Tamura et al., 2011)

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^{103Q.Ex1.Scer\UAS}

Hsap\HTT^103Q.Ex1.UAS

Name Synonyms

Secondary FlyBase IDs

References (6)

Report Sections

Open Close