FlyBase Allele Report: Hsap\ATXN7[102Q.T.UAS.Tag:NLS(SV40-largeT)]

General Information

Symbol

Hsap\ATXN7^{102Q.T.UAS.Tag:NLS(SV40-largeT)}

Species

H. sapiens

Name

FlyBase ID

FBal0290348

Feature type

allele

Associated gene

Hsap\ATXN7

Associated Insertion(s)

Carried in Construct

P{UAS-SCA7.T-102Q}

Key Links

Transgenic product class

inframe_deletion

(Latouche et al., 2007)

trinucleotide_repeat_expansion

(Latouche et al., 2007)

Mutagen

in vitro construct

Nature of the Allele

Transgenic product class

inframe_deletion

(Latouche et al., 2007)

trinucleotide_repeat_expansion

(Latouche et al., 2007)

Mutagen

in vitro construct

(Latouche et al., 2007)

Progenitor genotype

Carried in construct

P{UAS-SCA7.T-102Q}

Cytology

Description

UAS regulatory sequences drive expression of a truncated version (amino acids 1-232) of a Hsap\ATXN7 cDNA, which contains an expanded number of 102 glutamines in the glutamine repeat. The protein is tagged with a nuclear localization signal (Tag:NLS(SV40-largeT)).

(Latouche et al., 2007)

Allele components

Component

Use(s)

Regulatory region(s)

UAS

binary expression system - regulatory region

Encoded product / tool

Hsap\ATXN7

Tagged with

Tag:NLS(SV40-largeT)

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 autosomal dominant cerebellar ataxia

CEA

(Latouche et al., 2007)

model of spinocerebellar ataxia type 7

CEA

(Vinatier et al., 2015)

Modifiers Based on Experimental Evidence ( 1 )

Disease

Interaction

References

model of autosomal dominant cerebellar ataxia

is exacerbated by nej^EP950

(Latouche et al., 2007)

is ameliorated by Taf10^KG07031

(Latouche et al., 2007)

is ameliorated by Diap1^EY00710

(Latouche et al., 2007)

is exacerbated by Diap1^j5C8

(Latouche et al., 2007)

is ameliorated by Nipped-A^NC116

(Latouche et al., 2007)

is ameliorated by ced-6^KG03411a

(Latouche et al., 2007)

is ameliorated by Hsc70-3^UAS.cEa

(Latouche et al., 2007)

is exacerbated by mub^EP3623

(Latouche et al., 2007)

is ameliorated by Uba1^UY3010

(Latouche et al., 2007)

is ameliorated by Rpn11^BG01694

(Latouche et al., 2007)

is exacerbated by HDAC1^EP3672

(Latouche et al., 2007)

is ameliorated by Atx2⁰⁶⁴⁹⁰

(Latouche et al., 2007)

is ameliorated by Diap1^UY1156

(Latouche et al., 2007)

model of spinocerebellar ataxia type 7

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

(Vinatier et al., 2015)

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

Disease-implicated variant(s)

This allele represents a human variant implicated in disease.

(Latouche et al., 2007)

ATXN7:p.Gln30[102]

(FlyBase curators, 2019-)

Variants Synonym(s)

ATXN7:p.Gln30[102Gln]

ATXN7, (CAG)n REPEAT EXPANSION

Associated human disease model(s)

spinocerebellar ataxia 7

External database links

ClinVar: ATXN7_562100

Comments concerning this variant

Phenotypic Data

Phenotypic Class

Phenotype Manifest In

eye | progressive, with Scer\GAL4^GMR.PU

(Vinatier et al., 2015)

Detailed Description

Statement

Reference

The expression of Hsap\ATXN7^{10Q.T.UAS.Tag:NLS(SV40-largeT)} under the control of Scer\GAL4^GMR.PU leads to a very mild toxicity in the eye, as judged by a very mild but progressive loss of eye pigmentation.

(Vinatier et al., 2015)

Flies expressing Hsap\ATXN7^{102Q.T.Scer\UAS.T:SV40\nls-largeT} under the control of Scer\GAL4^{elav.Switch.PO} only during the adult stage (RU486 used to control the stage of expression) are short lived compared to control flies. Climbing ability of flies 16 days after induction of expression is significantly reduced compared to controls. 18 day old flies expressing Hsap\ATXN7^{102Q.T.Scer\UAS.T:SV40\nls-largeT} under the control of Scer\GAL4^{elav.Switch.PO} in the presence of RU486 results in a small number of TUNEL-positive cells in the brain, most notably in the optic lobe (TUNEL-positive cells are not seen in the control flies). Mutant neurons contain neuronal intranuclear inclusions, which are fibrillar in structure. The nuclear membrane, mitochondria and chromatin appear normal. Flies expressing Hsap\ATXN7^{102Q.T.Scer\UAS.T:SV40\nls-largeT} under the control of Scer\GAL4^elav-C155 or Scer\GAL4^how-24B are also short lived compared to control flies.