FlyBase Allele Report: Hsap\HTT[M8V.H82A.Q127.ex1p.UAS]

General Information

Symbol

Hsap\HTT^{M8V.H82A.Q127.ex1p.UAS}

Species

H. sapiens

Name

FlyBase ID

FBal0294744

Feature type

allele

Associated gene

Hsap\HTT

Associated Insertion(s)

Carried in Construct

P{UAS-Httex1p-Q127.M8V.H82A}

Key Links

Transgenic product class

inframe_deletion

(Xiao et al., 2013)

missense_variant

(Xiao et al., 2013)

Mutagen

in vitro construct

Nature of the Allele

Transgenic product class

inframe_deletion

(Xiao et al., 2013)

missense_variant

(Xiao et al., 2013)

Mutagen

in vitro construct

(Xiao et al., 2013)

Progenitor genotype

Carried in construct

P{UAS-Httex1p-Q127.M8V.H82A}

Cytology

Description

UAS regulatory sequences drive expression of Hsap\HTT exon 1 containing the amino acid replacements M8V and H82A (mutation of two potential copper coordinating residues) and containing a 127 residue polyQ tract.

(Xiao et al., 2013)

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 ( 0 )

Disease

Evidence

References

Modifiers Based on Experimental Evidence ( 0 )

Disease

Interaction

References

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

Disease-implicated variant(s)

Phenotypic Data

Phenotypic Class

abnormal eye color | heat sensitive, with Scer\GAL4^GMR.PU

(Xiao et al., 2013)

abnormal locomotor behavior | adult stage | heat sensitive, with Scer\GAL4^elav.PU

(Xiao et al., 2013)

short lived | heat sensitive, with Scer\GAL4^elav.PU

(Xiao et al., 2013)

viable, with Scer\GAL4^elav.PU

(Xiao et al., 2013)

Phenotype Manifest In

Detailed Description

Statement

Reference

Flies expressing Hsap\HTT^{M8V.H82A.Q127.ex1p.Scer\UAS} under the control of Scer\GAL4^elav.PU at 25[o]C typically show no or little defects in eclosion rates, mobility or lifespan compared to controls. When raised at 29[o]C, a reduction in lifespan and some defects in mobility are seen.

Flies expressing Hsap\HTT^{M8V.H82A.Q127.ex1p.Scer\UAS} under the control of Scer\GAL4^GMR.PU at 29[o]C show mild loss of eye pigmentation.

(Xiao et al., 2013)

External Data

Linkouts

Interactions

Show genetic interaction network for Enhancers & Suppressors

Phenotypic Class

NOT Enhanced by

Statement

Reference

Hsap\HTT^{M8V.H82A.Q127.ex1p.UAS}, Scer\GAL4^elav.PU has short lived | heat sensitive phenotype, non-enhanceable by Ctr1B^NIG.7459R, Scer\GAL4^elav.PU

(Xiao et al., 2013)

Hsap\HTT^{M8V.H82A.Q127.ex1p.UAS}, Scer\GAL4^elav.PU has abnormal locomotor behavior | adult stage | heat sensitive phenotype, non-enhanceable by Ctr1B^NIG.7459R, Scer\GAL4^elav.PU

(Xiao et al., 2013)

Hsap\HTT^{M8V.H82A.Q127.ex1p.UAS}, Scer\GAL4^elav.PU has short lived | heat sensitive phenotype, non-enhanceable by ATP7^EY07895, Scer\GAL4^elav.PU

(Xiao et al., 2013)

Hsap\HTT^{M8V.H82A.Q127.ex1p.UAS}, Scer\GAL4^elav.PU has short lived | heat sensitive phenotype, non-enhanceable by ATP7^GD3322, Scer\GAL4^elav.PU

(Xiao et al., 2013)

Hsap\HTT^{M8V.H82A.Q127.ex1p.UAS}, Scer\GAL4^elav.PU has abnormal locomotor behavior | adult stage | heat sensitive phenotype, non-enhanceable by ATP7^GD3322, Scer\GAL4^elav.PU

(Xiao et al., 2013)

Hsap\HTT^{M8V.H82A.Q127.ex1p.UAS}, Scer\GAL4^GMR.PU has abnormal eye color | heat sensitive phenotype, non-enhanceable by Ctr1B^NIG.7459R, Scer\GAL4^GMR.PU

(Xiao et al., 2013)

Hsap\HTT^{M8V.H82A.Q127.ex1p.UAS}, Scer\GAL4^GMR.PU has abnormal eye color | heat sensitive phenotype, non-enhanceable by ATP7^EY07895, Scer\GAL4^GMR.PU

(Xiao et al., 2013)

Hsap\HTT^{M8V.H82A.Q127.ex1p.UAS}, Scer\GAL4^GMR.PU has abnormal eye color | heat sensitive phenotype, non-enhanceable by ATP7^GD3322, Scer\GAL4^GMR.PU

(Xiao et al., 2013)

NOT suppressed by

Statement

Reference

Hsap\HTT^{M8V.H82A.Q127.ex1p.UAS}, Scer\GAL4^elav.PU has short lived | heat sensitive phenotype, non-suppressible by Ctr1B^NIG.7459R, Scer\GAL4^elav.PU

(Xiao et al., 2013)

Hsap\HTT^{M8V.H82A.Q127.ex1p.UAS}, Scer\GAL4^elav.PU has short lived | heat sensitive phenotype, non-suppressible by ATP7^EY07895, Scer\GAL4^elav.PU

(Xiao et al., 2013)

Hsap\HTT^{M8V.H82A.Q127.ex1p.UAS}, Scer\GAL4^elav.PU has short lived | heat sensitive phenotype, non-suppressible by ATP7^GD3322, Scer\GAL4^elav.PU

(Xiao et al., 2013)

Hsap\HTT^{M8V.H82A.Q127.ex1p.UAS}, Scer\GAL4^elav.PU has abnormal locomotor behavior | adult stage | heat sensitive phenotype, non-suppressible by Ctr1B^NIG.7459R, Scer\GAL4^elav.PU

(Xiao et al., 2013)

Hsap\HTT^{M8V.H82A.Q127.ex1p.UAS}, Scer\GAL4^elav.PU has abnormal locomotor behavior | adult stage | heat sensitive phenotype, non-suppressible by ATP7^GD3322, Scer\GAL4^elav.PU

(Xiao et al., 2013)

Hsap\HTT^{M8V.H82A.Q127.ex1p.UAS}, Scer\GAL4^GMR.PU has abnormal eye color | heat sensitive phenotype, non-suppressible by Ctr1B^NIG.7459R, Scer\GAL4^GMR.PU

(Xiao et al., 2013)

Hsap\HTT^{M8V.H82A.Q127.ex1p.UAS}, Scer\GAL4^GMR.PU has abnormal eye color | heat sensitive phenotype, non-suppressible by ATP7^EY07895, Scer\GAL4^GMR.PU

(Xiao et al., 2013)

Hsap\HTT^{M8V.H82A.Q127.ex1p.UAS}, Scer\GAL4^GMR.PU has abnormal eye color | heat sensitive phenotype, non-suppressible by ATP7^GD3322, Scer\GAL4^GMR.PU

(Xiao et al., 2013)

Phenotype Manifest In

Additional Comments

Genetic Interactions

Statement

Reference

Xenogenetic Interactions

Statement

Reference

Co-expression of either Ctr1B^NIG.7459R, ATP7^EY07895 or ATP7^GD3322 has no effect on the reduction in lifespan seen in flies expressing Hsap\HTT^{M8V.H82A.Q127.ex1p.Scer\UAS} under the control of Scer\GAL4^elav.PU at 29[o]C.

Co-expression of either Ctr1B^NIG.7459R or ATP7^GD3322 has no effect on the mobility defects seen in flies expressing Hsap\HTT^{M8V.H82A.Q127.ex1p.Scer\UAS} under the control of Scer\GAL4^elav.PU at 29[o]C.

Co-expression of either Ctr1B^NIG.7459R, ATP7^EY07895 or ATP7^GD3322 has no effect on the loss of eye pigmentation seen in flies expressing Hsap\HTT^{M8V.H82A.Q127.ex1p.Scer\UAS} under the control of Scer\GAL4^GMR.PU at 29[o]C.

(Xiao et al., 2013)

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^{M8V.H82A.Q127.ex1p.Scer\UAS}

Hsap\HTT^{M8V.H82A.Q127.ex1p.UAS}

Name Synonyms

Secondary FlyBase IDs

References (1)

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