FlyBase Allele Report: Hsap\ATXN8OS[CTG9.UAS]

General Information

Symbol

Hsap\ATXN8OS^CTG9.UAS

Species

H. sapiens

Name

FlyBase ID

FBal0156377

Feature type

allele

Associated gene

Hsap\ATXN8OS

Associated Insertion(s)

Carried in Construct

P{UAS-SCA8.CTG9}

Key Links

Transgenic product class

Mutagen

in vitro construct

Nature of the Allele

Transgenic product class

Mutagen

in vitro construct

(Mutsuddi et al., 2004)

Progenitor genotype

Carried in construct

P{UAS-SCA8.CTG9}

Cytology

Description

UAS regulatory sequences drive expression of exons D, C3, C2 and A of a Hsap\ATXN8OS cDNA. This construct contains a wild-type, unexpanded configuration of CTG repeats which has the configuration CTA₉CTG₉.

(Mutsuddi et al., 2004)

Allele components

Component

Use(s)

Regulatory region(s)

UAS

binary expression system - regulatory region

Encoded product / tool

Hsap\ATXN8OS

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

(Mutsuddi et al., 2004)

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 neuroanatomy, with Scer\GAL4^GMR.PF

(Mutsuddi et al., 2004)

visible, with Scer\GAL4^GMR.PF

(Mutsuddi et al., 2004)

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

(Tripathi et al., 2016)

Phenotype Manifest In

eye, with Scer\GAL4^GMR.PU

(Tripathi et al., 2016)

eye photoreceptor cell & neuron, with Scer\GAL4^GMR.PF

(Mutsuddi et al., 2004)

interommatidial bristle, with Scer\GAL4^GMR.PF

(Mutsuddi et al., 2004)

ommatidium, with Scer\GAL4^GMR.PF

(Mutsuddi et al., 2004)

pigment cell, with Scer\GAL4^GMR.PF

(Mutsuddi et al., 2004)

retina, with Scer\GAL4^GMR.PF

(Mutsuddi et al., 2004)

Detailed Description

Statement

Reference

Expression of Hsap\ATXN8OS^{CTG9.Scer\UAS} under the control of Scer\GAL4^GMR.PU results in a rather mild disorganization of the ommatidial array in adult eyes.

(Tripathi et al., 2016)

Expression of Hsap\SCA8^{CTG9.Scer\UAS} under the control of Scer\GAL4^GMR.PF results in disorganisation of the ommatidia and mechanosensory bristles of the eye, with the central portion of the eye being most severely affected. The penetrance of the phenotype is variable. The retina of 1- to 2-day old flies expressing Hsap\SCA8^{CTG9.Scer\UAS} under the control of Scer\GAL4^GMR.PF shows mild disorganisation with a loss of photoreceptor neurons and pigment cells. This retinal degeneration becomes progressively more severe as the flies age, with photoreceptor neurons becoming rod shaped and fragmented, resulting in vacuole formation. The recruitment and differentiation of photoreceptor neurons in larval eye discs expressing Hsap\SCA8^{CTG9.Scer\UAS} under the control of Scer\GAL4^GMR.PF appears to be normal, with degeneration of the photoreceptors appearing to begin during the pupal stages.

(Mutsuddi et al., 2004)

External Data

Linkouts

Interactions

Show genetic interaction network for Enhancers & Suppressors

Phenotypic Class

NOT suppressed by

Statement

Reference

Hsap\ATXN8OS^CTG9.UAS, Scer\GAL4^GMR.PU has visible | adult stage phenotype, non-suppressible by spoon^UAS.Tag:HA, Scer\GAL4^GMR.PU

(Tripathi et al., 2016)

Phenotype Manifest In

Enhanced by

Statement

Reference

Hsap\ATXN8OS^CTG9.UAS, Scer\GAL4^GMR.PF has ommatidium phenotype, enhanceable by spen^AH393

(Mutsuddi et al., 2004)

Hsap\ATXN8OS^CTG9.UAS, Scer\GAL4^GMR.PF has ommatidium phenotype, enhanceable by mbl^E16

(Mutsuddi et al., 2004)

NOT suppressed by

Statement

Reference

Hsap\ATXN8OS^CTG9.UAS, Scer\GAL4^GMR.PU has eye phenotype, non-suppressible by spoon^UAS.Tag:HA, Scer\GAL4^GMR.PU

(Tripathi et al., 2016)

Additional Comments

Genetic Interactions

Statement

Reference

Xenogenetic Interactions

Statement

Reference

The moderate disorganization of the ommatidial lattice in the eye characteristic for adult flies expressing Hsap\ATXN8OS^{CTG9.Scer\UAS} under the control of Scer\GAL4^GMR.PU is not suppressed by co-expression of spoon^UAS.Tag:HA.

(Tripathi et al., 2016)

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\ATXN8OS^{CTG9.Scer\UAS}

Hsap\ATXN8OS^CTG9.UAS

Hsap\SCA8^{CTG9.Scer\UAS}

Name Synonyms

Secondary FlyBase IDs

References (2)

Report Sections

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