FlyBase Allele Report: Hsap\TARDBP[ΔC.UAS]

General Information

Symbol

Hsap\TARDBP^ΔC.UAS

Species

H. sapiens

Name

FlyBase ID

FBal0327170

Feature type

allele

Associated gene

Hsap\TARDBP

Associated Insertion(s)

Carried in Construct

P{UAS-hTARDBP.ΔC}

Key Links

Transgenic product class

inframe_deletion

(Ishiguro et al., 2017)

Mutagen

in vitro construct

Nature of the Allele

Transgenic product class

inframe_deletion

(Ishiguro et al., 2017)

Mutagen

in vitro construct

(Ishiguro et al., 2017)

Progenitor genotype

Carried in construct

P{UAS-hTARDBP.ΔC}

Cytology

Description

UAS regulatory sequences drive expression of Hsap\TARDBP with deletion of the N-terminus (amino acids 276-414).

(Ishiguro et al., 2017)

Allele components

Component

Use(s)

Regulatory region(s)

UAS

binary expression system - regulatory region

Encoded product / tool

Hsap\TARDBP

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

DOES NOT model amyotrophic lateral sclerosis

CEA

(Ishiguro et al., 2017)

Modifiers Based on Experimental Evidence ( 1 )

Disease

Interaction

References

ameliorates spinocerebellar ataxia 31

modeled by Zzzz\UGGAA^W.UAS

(Ishiguro et al., 2017)

modeled by Zzzz\UGGAA^S.UAS

(Ishiguro et al., 2017)

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

Disease-implicated variant(s)

Phenotypic Data

Phenotypic Class

Phenotype Manifest In

Detailed Description

Statement

Reference

The expression of Hsap\TARDBP^ΔC.Scer\UAS under the control of Scer\GAL4^GMR.PS leads to no obvious eye phenotype, as compared to controls.

(Ishiguro et al., 2017)

External Data

Linkouts

Interactions

Show genetic interaction network for Enhancers & Suppressors

Phenotypic Class

Suppressor of

Statement

Reference

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

(Ishiguro et al., 2017)

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

(Ishiguro et al., 2017)

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

(Ishiguro et al., 2017)

Phenotype Manifest In

Suppressor of

Statement

Reference

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

(Ishiguro et al., 2017)

Additional Comments

Genetic Interactions

Statement

Reference

Xenogenetic Interactions

Statement

Reference

The co-expression of Hsap\TARDBP^ΔC.Scer\UAS leads to a decrease in the severity of the eye defects resulting from the expression of either Zzzz\UGGAA^W.Scer\UAS or Zzzz\UGGAA^S.Scer\UAS, under the control of Scer\GAL4^GMR.PS (i.e. reduced size, loss of pigmentation, defective morphology and ommatidial abnormalities).

(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

Hsap\TARDBP^ΔC.Scer\UAS

Hsap\TARDBP^ΔC.UAS

Name Synonyms

Secondary FlyBase IDs

References (1)

Report Sections

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