FlyBase Allele Report: Zzzz\UGGAA[W.UAS]

General Information

Symbol

Zzzz\UGGAA^W.UAS

Species

a. artificial

Name

FlyBase ID

FBal0327167

Feature type

allele

Associated gene

Zzzz\UGGAA

Associated Insertion(s)

Carried in Construct

P{UAS-UGGAA.W}

Transgenic product class

short_tandem_repeat_expansion

(Ishiguro et al., 2017)

Mutagen

in vitro construct

Nature of the Allele

Transgenic product class

short_tandem_repeat_expansion

(Ishiguro et al., 2017)

Mutagen

in vitro construct

(Ishiguro et al., 2017)

Progenitor genotype

Carried in construct

P{UAS-UGGAA.W}

Cytology

Description

UAS regulatory sequences drive weak (line 2) expression of around 80-100 (0.4-0.5 kb) Zzzz\UGGAA (a repeat tract associated with human SCA31) repeats, followed by a bridging sequence (complex of UGGGAA, UGGAA, UAGAA) and then a (UAGAA)n, (UAAAA UAGAA)n stretch.

(Ishiguro et al., 2017)

Allele components

Component

Use(s)

Regulatory region(s)

UAS

binary expression system - regulatory region

Encoded product / tool

Zzzz\UGGAA

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 spinocerebellar ataxia type 31

CEA

(Ishiguro et al., 2017)

Modifiers Based on Experimental Evidence ( 1 )

Disease

Interaction

References

model of spinocerebellar ataxia type 31

is ameliorated by Hsap\TARDBP^UAS.cIb

(Ishiguro et al., 2017)

is ameliorated by Hsap\TARDBP^ΔN.UAS

(Ishiguro et al., 2017)

is exacerbated by TBPH^GD6943

(Ishiguro et al., 2017)

is ameliorated by Hsap\HNRNPA2B1^UAS.cKa

(Ishiguro et al., 2017)

is exacerbated by nonA^GD11253

(Ishiguro et al., 2017)

is exacerbated by mle^GD1488

(Ishiguro et al., 2017)

is NOT ameliorated by Hrb98DE^GD14939

(Ishiguro et al., 2017)

is ameliorated by Hsap\TARDBP^ΔC.UAS

(Ishiguro et al., 2017)

is NOT ameliorated by Hsap\TARDBP^RRM.UAS

(Ishiguro et al., 2017)

is ameliorated by Hsap\FUS^UAS.cIa

(Ishiguro et al., 2017)

is NOT ameliorated by caz^KK107486

(Ishiguro et al., 2017)

is exacerbated by DnaJ-1^UAS.cIa

(Ishiguro et al., 2017)

is NOT ameliorated by mahe^GD17235

(Ishiguro et al., 2017)

is NOT ameliorated by Hrb87F^KK108162

(Ishiguro et al., 2017)

ameliorates amyotrophic lateral sclerosis

modeled by Hsap\TARDBP^UAS.cIb

(Ishiguro et al., 2017)

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

Disease-implicated variant(s)

This allele represents a human variant implicated in disease.

(Ishiguro et al., 2017)

This construct encodes only the RNA repeat motif.

BEAN1:n.intron[80_100UGGAA]

(FlyBase curators, 2019-)

Variants Synonym(s)

Associated human disease model(s)

spinocerebellar ataxia 31

External database links

ClinVar: BEAN1_733

Comments concerning this variant

Phenotypic Data

Phenotypic Class

abnormal eye color, with Scer\GAL4^GMR.PS

(Ishiguro et al., 2017)

abnormal size | adult stage, with Scer\GAL4^GMR.PS

(Ishiguro et al., 2017)

short lived, with Scer\GAL4^elav-C155

(Ishiguro et al., 2017)

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

(Ishiguro et al., 2017)

Phenotype Manifest In

eye | adult stage, with Scer\GAL4^GMR.PS

(Ishiguro et al., 2017)

ommatidium | adult stage, with Scer\GAL4^GMR.PS

(Ishiguro et al., 2017)

Detailed Description

Statement

Reference

The expression of Zzzz\UGGAA^W.Scer\UAS under the control of Scer\GAL4^GMR.PS results in moderate adult eye defects, including reduced size, loss of pigmentation, defective morphology and ommatidial abnormalities, as compared to controls; the eye defects are dose-dependent, as they are more severe upon expression from two copies of Zzzz\UGGAA^W.Scer\UAS than from one copy. Expression under the control of Scer\GAL4^elav-C155 results in a decreased lifespan, as compared to controls.

(Ishiguro et al., 2017)

External Data

Linkouts

Interactions

Show genetic interaction network for Enhancers & Suppressors

Phenotypic Class

Enhanced by

Statement

Reference

Scer\GAL4^GMR.PS, Zzzz\UGGAA^W.UAS has visible | adult stage phenotype, enhanceable by TBPH^GD6943/Scer\GAL4^GMR.PS

(Ishiguro et al., 2017)

Scer\GAL4^GMR.PS, Zzzz\UGGAA^W.UAS has abnormal size | adult stage phenotype, enhanceable by mle^GD1488/Scer\GAL4^GMR.PS

(Ishiguro et al., 2017)

Scer\GAL4^GMR.PS, Zzzz\UGGAA^W.UAS has abnormal eye color phenotype, enhanceable by mle^GD1488/Scer\GAL4^GMR.PS

(Ishiguro et al., 2017)

Scer\GAL4^GMR.PS, Zzzz\UGGAA^W.UAS has visible | adult stage phenotype, enhanceable by nonA^GD11253/Scer\GAL4^GMR.PS

(Ishiguro et al., 2017)

Scer\GAL4^GMR.PS, Zzzz\UGGAA^W.UAS has abnormal size | adult stage phenotype, enhanceable by nonA^GD11253/Scer\GAL4^GMR.PS

(Ishiguro et al., 2017)

Scer\GAL4^GMR.PS, Zzzz\UGGAA^W.UAS has abnormal eye color phenotype, enhanceable by nonA^GD11253/Scer\GAL4^GMR.PS

(Ishiguro et al., 2017)

Scer\GAL4^GMR.PS, Zzzz\UGGAA^W.UAS has abnormal size | adult stage phenotype, enhanceable by TBPH^GD6943/Scer\GAL4^GMR.PS

(Ishiguro et al., 2017)

Scer\GAL4^GMR.PS, Zzzz\UGGAA^W.UAS has abnormal eye color phenotype, enhanceable by TBPH^GD6943/Scer\GAL4^GMR.PS

(Ishiguro et al., 2017)

Scer\GAL4^GMR.PS, Zzzz\UGGAA^W.UAS has visible | adult stage phenotype, enhanceable by DnaJ-1^UAS.cIa, Scer\GAL4^GMR.PS

(Ishiguro et al., 2017)

Scer\GAL4^GMR.PS, Zzzz\UGGAA^W.UAS has abnormal size | adult stage phenotype, enhanceable by DnaJ-1^UAS.cIa, Scer\GAL4^GMR.PS

(Ishiguro et al., 2017)

Scer\GAL4^GMR.PS, Zzzz\UGGAA^W.UAS has abnormal eye color phenotype, enhanceable by DnaJ-1^UAS.cIa, Scer\GAL4^GMR.PS

(Ishiguro et al., 2017)

Scer\GAL4^GMR.PS, Zzzz\UGGAA^W.UAS has visible | adult stage phenotype, enhanceable by mle^GD1488/Scer\GAL4^GMR.PS

(Ishiguro et al., 2017)

Suppressed by

Statement

Reference

Scer\GAL4^GMR.PS, Zzzz\UGGAA^W.UAS has visible | adult stage phenotype, suppressible | partially by Hsap\TARDBP^UAS.cIb, Scer\GAL4^GMR.PS

(Ishiguro et al., 2017)

Scer\GAL4^GMR.PS, Zzzz\UGGAA^W.UAS has abnormal size | adult stage phenotype, suppressible | partially by Hsap\TARDBP^UAS.cIb, Scer\GAL4^GMR.PS

(Ishiguro et al., 2017)

Scer\GAL4^GMR.PS, Zzzz\UGGAA^W.UAS has abnormal eye color phenotype, suppressible | partially by Hsap\TARDBP^UAS.cIb, Scer\GAL4^GMR.PS

(Ishiguro et al., 2017)

Scer\GAL4^GMR.PS, Zzzz\UGGAA^W.UAS has visible | adult stage phenotype, suppressible | partially by Hsap\TARDBP^ΔN.UAS, Scer\GAL4^GMR.PS

(Ishiguro et al., 2017)

Scer\GAL4^GMR.PS, Zzzz\UGGAA^W.UAS has abnormal size | adult stage phenotype, suppressible | partially by Hsap\TARDBP^ΔN.UAS, Scer\GAL4^GMR.PS

(Ishiguro et al., 2017)

Scer\GAL4^GMR.PS, Zzzz\UGGAA^W.UAS has abnormal eye color phenotype, suppressible | partially by Hsap\TARDBP^ΔN.UAS, Scer\GAL4^GMR.PS

(Ishiguro et al., 2017)

Scer\GAL4^GMR.PS, Zzzz\UGGAA^W.UAS has visible | adult stage phenotype, suppressible | partially by Hsap\TARDBP^ΔC.UAS, Scer\GAL4^GMR.PS

(Ishiguro et al., 2017)

Scer\GAL4^GMR.PS, Zzzz\UGGAA^W.UAS has abnormal size | adult stage phenotype, suppressible | partially by Hsap\TARDBP^ΔC.UAS, Scer\GAL4^GMR.PS

(Ishiguro et al., 2017)

Scer\GAL4^GMR.PS, Zzzz\UGGAA^W.UAS has abnormal eye color phenotype, suppressible | partially by Hsap\TARDBP^ΔC.UAS, Scer\GAL4^GMR.PS

(Ishiguro et al., 2017)

Scer\GAL4^GMR.PS, Zzzz\UGGAA^W.UAS has visible | adult stage phenotype, suppressible | partially by Hsap\FUS^UAS.cIa, Scer\GAL4^GMR.PS

(Ishiguro et al., 2017)

Scer\GAL4^GMR.PS, Zzzz\UGGAA^W.UAS has abnormal size | adult stage phenotype, suppressible | partially by Hsap\FUS^UAS.cIa, Scer\GAL4^GMR.PS

(Ishiguro et al., 2017)

Scer\GAL4^GMR.PS, Zzzz\UGGAA^W.UAS has abnormal eye color phenotype, suppressible | partially by Hsap\FUS^UAS.cIa, Scer\GAL4^GMR.PS

(Ishiguro et al., 2017)

Scer\GAL4^GMR.PS, Zzzz\UGGAA^W.UAS has visible | adult stage phenotype, suppressible | partially by Hsap\HNRNPA2B1^UAS.cKa, Scer\GAL4^GMR.PS

(Ishiguro et al., 2017)

Scer\GAL4^GMR.PS, Zzzz\UGGAA^W.UAS has abnormal size | adult stage phenotype, suppressible | partially by Hsap\HNRNPA2B1^UAS.cKa, Scer\GAL4^GMR.PS

(Ishiguro et al., 2017)

Scer\GAL4^GMR.PS, Zzzz\UGGAA^W.UAS has abnormal eye color phenotype, suppressible | partially by Hsap\HNRNPA2B1^UAS.cKa, Scer\GAL4^GMR.PS

(Ishiguro et al., 2017)

Scer\GAL4^GMR.PS, TBPH^GD6943, Zzzz\UGGAA^W.UAS has visible | adult stage phenotype, suppressible | partially by Hsap\FUS^UAS.cIa, Scer\GAL4^GMR.PS

(Ishiguro et al., 2017)

Scer\GAL4^GMR.PS, TBPH^GD6943, Zzzz\UGGAA^W.UAS has abnormal size | adult stage phenotype, suppressible | partially by Hsap\FUS^UAS.cIa, Scer\GAL4^GMR.PS

(Ishiguro et al., 2017)

Scer\GAL4^GMR.PS, TBPH^GD6943, Zzzz\UGGAA^W.UAS has visible | adult stage phenotype, suppressible | partially by Hsap\HNRNPA2B1^UAS.cKa, Scer\GAL4^GMR.PS

(Ishiguro et al., 2017)

Scer\GAL4^GMR.PS, TBPH^GD6943, Zzzz\UGGAA^W.UAS has abnormal size | adult stage phenotype, suppressible | partially by Hsap\HNRNPA2B1^UAS.cKa, Scer\GAL4^GMR.PS

(Ishiguro et al., 2017)

NOT suppressed by

Statement

Reference

Scer\GAL4^GMR.PS, Zzzz\UGGAA^W.UAS has abnormal eye color phenotype, non-suppressible by caz^KK107486/Scer\GAL4^GMR.PS

(Ishiguro et al., 2017)

Scer\GAL4^GMR.PS, Zzzz\UGGAA^W.UAS has visible | adult stage phenotype, non-suppressible by Hrb87F^KK108162, Scer\GAL4^GMR.PS

(Ishiguro et al., 2017)

Scer\GAL4^GMR.PS, Zzzz\UGGAA^W.UAS has abnormal size | adult stage phenotype, non-suppressible by Hrb87F^KK108162, Scer\GAL4^GMR.PS

(Ishiguro et al., 2017)

Scer\GAL4^GMR.PS, Zzzz\UGGAA^W.UAS has abnormal eye color phenotype, non-suppressible by Hrb87F^KK108162, Scer\GAL4^GMR.PS

(Ishiguro et al., 2017)

Scer\GAL4^GMR.PS, Zzzz\UGGAA^W.UAS has visible | adult stage phenotype, non-suppressible by Hrb98DE^GD14939, Scer\GAL4^GMR.PS

(Ishiguro et al., 2017)

Scer\GAL4^GMR.PS, Zzzz\UGGAA^W.UAS has abnormal size | adult stage phenotype, non-suppressible by Hrb98DE^GD14939, Scer\GAL4^GMR.PS

(Ishiguro et al., 2017)

Scer\GAL4^GMR.PS, Zzzz\UGGAA^W.UAS has abnormal eye color phenotype, non-suppressible by Hrb98DE^GD14939, Scer\GAL4^GMR.PS

(Ishiguro et al., 2017)

Scer\GAL4^GMR.PS, Zzzz\UGGAA^W.UAS has visible | adult stage phenotype, non-suppressible by Hsap\TARDBP^RRM.UAS, Scer\GAL4^GMR.PS

(Ishiguro et al., 2017)

Scer\GAL4^GMR.PS, Zzzz\UGGAA^W.UAS has abnormal size | adult stage phenotype, non-suppressible by Hsap\TARDBP^RRM.UAS, Scer\GAL4^GMR.PS

(Ishiguro et al., 2017)

Scer\GAL4^GMR.PS, Zzzz\UGGAA^W.UAS has abnormal eye color phenotype, non-suppressible by Hsap\TARDBP^RRM.UAS, Scer\GAL4^GMR.PS

(Ishiguro et al., 2017)

Scer\GAL4^GMR.PS, Zzzz\UGGAA^W.UAS has visible | adult stage phenotype, non-suppressible by Scer\GAL4^GMR.PS/mahe^GD17235

(Ishiguro et al., 2017)

Scer\GAL4^GMR.PS, Zzzz\UGGAA^W.UAS has abnormal size | adult stage phenotype, non-suppressible by Scer\GAL4^GMR.PS/mahe^GD17235

(Ishiguro et al., 2017)

Scer\GAL4^GMR.PS, Zzzz\UGGAA^W.UAS has abnormal eye color phenotype, non-suppressible by Scer\GAL4^GMR.PS/mahe^GD17235

(Ishiguro et al., 2017)

Scer\GAL4^GMR.PS, Zzzz\UGGAA^W.UAS has visible | adult stage phenotype, non-suppressible by caz^KK107486/Scer\GAL4^GMR.PS

(Ishiguro et al., 2017)

Scer\GAL4^GMR.PS, Zzzz\UGGAA^W.UAS has abnormal size | adult stage phenotype, non-suppressible by caz^KK107486/Scer\GAL4^GMR.PS

(Ishiguro et al., 2017)

Suppressor of

Statement

Reference

Zzzz\UGGAA^W.UAS, Scer\GAL4^GMR.PS is a suppressor | partially of visible | adult stage phenotype of Hsap\TARDBP^UAS.cIb, Scer\GAL4^GMR.PS

(Ishiguro et al., 2017)

Zzzz\UGGAA^W.UAS, Scer\GAL4^GMR.PS is a suppressor | partially of abnormal size | adult stage phenotype of Hsap\TARDBP^UAS.cIb, Scer\GAL4^GMR.PS

(Ishiguro et al., 2017)

Phenotype Manifest In

Enhanced by

Statement

Reference

Scer\GAL4^GMR.PS, Zzzz\UGGAA^W.UAS has eye | adult stage phenotype, enhanceable by TBPH^GD6943/Scer\GAL4^GMR.PS

(Ishiguro et al., 2017)

Scer\GAL4^GMR.PS, Zzzz\UGGAA^W.UAS has eye | adult stage phenotype, enhanceable by nonA^GD11253/Scer\GAL4^GMR.PS

(Ishiguro et al., 2017)

Scer\GAL4^GMR.PS, Zzzz\UGGAA^W.UAS has eye | adult stage phenotype, enhanceable by DnaJ-1^UAS.cIa, Scer\GAL4^GMR.PS

(Ishiguro et al., 2017)

Scer\GAL4^GMR.PS, Zzzz\UGGAA^W.UAS has eye | adult stage phenotype, enhanceable by mle^GD1488/Scer\GAL4^GMR.PS

(Ishiguro et al., 2017)

Suppressed by

Statement

Reference

Scer\GAL4^GMR.PS, Zzzz\UGGAA^W.UAS has eye | adult stage phenotype, suppressible | partially by Hsap\TARDBP^UAS.cIb, Scer\GAL4^GMR.PS

(Ishiguro et al., 2017)

Scer\GAL4^GMR.PS, Zzzz\UGGAA^W.UAS has eye | adult stage phenotype, suppressible | partially by Hsap\TARDBP^ΔN.UAS, Scer\GAL4^GMR.PS

(Ishiguro et al., 2017)

Scer\GAL4^GMR.PS, Zzzz\UGGAA^W.UAS has eye | adult stage phenotype, suppressible | partially by Hsap\TARDBP^ΔC.UAS, Scer\GAL4^GMR.PS

(Ishiguro et al., 2017)

Scer\GAL4^GMR.PS, Zzzz\UGGAA^W.UAS has eye | adult stage phenotype, suppressible | partially by Hsap\FUS^UAS.cIa, Scer\GAL4^GMR.PS

(Ishiguro et al., 2017)

Scer\GAL4^GMR.PS, Zzzz\UGGAA^W.UAS has eye | adult stage phenotype, suppressible | partially by Hsap\HNRNPA2B1^UAS.cKa, Scer\GAL4^GMR.PS

(Ishiguro et al., 2017)

Scer\GAL4^GMR.PS, TBPH^GD6943, Zzzz\UGGAA^W.UAS has eye | adult stage phenotype, suppressible by Hsap\FUS^UAS.cIa, Scer\GAL4^GMR.PS

(Ishiguro et al., 2017)

Scer\GAL4^GMR.PS, TBPH^GD6943, Zzzz\UGGAA^W.UAS has eye | adult stage phenotype, suppressible | partially by Hsap\HNRNPA2B1^UAS.cKa, Scer\GAL4^GMR.PS

(Ishiguro et al., 2017)

NOT suppressed by

Statement

Reference

Scer\GAL4^GMR.PS, Zzzz\UGGAA^W.UAS has eye | adult stage phenotype, non-suppressible by Scer\GAL4^GMR.PS/mahe^GD17235

(Ishiguro et al., 2017)

Scer\GAL4^GMR.PS, Zzzz\UGGAA^W.UAS has eye | adult stage phenotype, non-suppressible by caz^KK107486/Scer\GAL4^GMR.PS

(Ishiguro et al., 2017)

Scer\GAL4^GMR.PS, Zzzz\UGGAA^W.UAS has eye | adult stage phenotype, non-suppressible by Hrb87F^KK108162, Scer\GAL4^GMR.PS

(Ishiguro et al., 2017)

Scer\GAL4^GMR.PS, Zzzz\UGGAA^W.UAS has eye | adult stage phenotype, non-suppressible by Hrb98DE^GD14939, Scer\GAL4^GMR.PS

(Ishiguro et al., 2017)

Scer\GAL4^GMR.PS, Zzzz\UGGAA^W.UAS has eye | adult stage phenotype, non-suppressible by Hsap\TARDBP^RRM.UAS, Scer\GAL4^GMR.PS

(Ishiguro et al., 2017)

Suppressor of

Statement

Reference

Zzzz\UGGAA^W.UAS, Scer\GAL4^GMR.PS is a suppressor | partially of eye phenotype of Hsap\TARDBP^UAS.cIb, Scer\GAL4^GMR.PS

(Ishiguro et al., 2017)

Zzzz\UGGAA^W.UAS, Scer\GAL4^GMR.PS is a suppressor | partially of retina | adult stage phenotype of Hsap\TARDBP^UAS.cIb, Scer\GAL4^GMR.PS

(Ishiguro et al., 2017)

Additional Comments

Genetic Interactions

Statement

Reference

Xenogenetic Interactions

Statement

Reference

The severity of the eye defects resulting from the expression of Zzzz\UGGAA^W.Scer\UAS under the control of Scer\GAL4^GMR.PS (i.e. reduced size, loss of pigmentation, defective morphology and ommatidial abnormalities) is enhanced by the co-expression of TBPH^GD6943, DnaJ-1^Scer\UAS.cIa, mle^GD1488, or nonA^GD11253, is decreased by the co-expression of Hsap\TARDBP^Scer\UAS.cIb, Hsap\TARDBP^ΔN.Scer\UAS, Hsap\TARDBP^ΔC.Scer\UAS, Hsap\FUS^Scer\UAS.cIa or Hsap\HNRNPA2B1^Scer\UAS.cKa, but is apparently unaffected by the co-expression of mahe^GD17235, caz^KK107486, Hrb87F^KK108162, Hrb98DE^GD14939, or Hsap\TARDBP^RRM.Scer\UAS; the partial suppression of the eye phenotypes by the co-expression of Hsap\TARDBP^Scer\UAS.cIb is not furthered by the additional co-expression of caz^KK107486, Hrb87F^KK108162 or Hrb98DE^GD14939.

The severe eye defects resulting from the co-expression of Zzzz\UGGAA^W.Scer\UAS and TBPH^GD6943 under the control of Scer\GAL4^GMR.PS are partially suppressed by the additional co-expression of Hsap\FUS^Scer\UAS.cIa or Hsap\HNRNPA2B1^Scer\UAS.cKa, respectively.

The co-expression of Zzzz\UGGAA^W.Scer\UAS partially suppresses the retina thinning resulting from the expression of Hsap\TARDBP^Scer\UAS.cIb under the control of Scer\GAL4^GMR.PS.

(Ishiguro et al., 2017)

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

Zzzz\UGGAA^W.Scer\UAS

Zzzz\UGGAA^W.UAS

Name Synonyms

Secondary FlyBase IDs

References (2)

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