FlyBase Allele Report: Hsap\PINK1[ΔC.UAS]

General Information

Symbol

Hsap\PINK1^ΔC.UAS

Species

H. sapiens

Name

FlyBase ID

FBal0239193

Feature type

allele

Associated gene

Hsap\PINK1

Associated Insertion(s)

Carried in Construct

P{UAS-Hsap\PINK1.ΔC}

Key Links

Transgenic product class

inframe_deletion

(Yang et al., 2006)

Mutagen

in vitro construct

Nature of the Allele

Transgenic product class

inframe_deletion

(Yang et al., 2006)

Mutagen

in vitro construct

(Yang et al., 2006)

Progenitor genotype

Carried in construct

P{UAS-Hsap\PINK1.ΔC}

Cytology

Description

UASt regulatory sequences drive expression of Hsap\PINK1 coding residues 1-509, mimicking a disease-linked C-terminal truncated form of Hsap\PINK1.

(Yang et al., 2006)

Allele components

Component

Use(s)

Regulatory region(s)

UASt

binary expression system - regulatory region

Encoded product / tool

Hsap\PINK1

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)

This allele represents a human variant implicated in disease.

(Yang et al., 2006)

Construct carries a C-terminal deletion that approximates the C-terminal frameshift and premature stop of known variant PINK1:p.Asp525fs .

PINK1:p.Ser510_Leu581del

(FlyBase curators, 2019-)

Variants Synonym(s)

Associated human disease model(s)

Parkinson disease 6, early-onset

External database links

ClinVar: PINK1_2409

Comments concerning this variant

Phenotypic Data

Phenotypic Class

Phenotype Manifest In

Detailed Description

Statement

Reference

Expression of Hsap\PINK1^ΔC.Scer\UAS, under the control of Scer\GAL4^ple.PF has no effect on TH+ neuron number.

(Yang et al., 2006)

External Data

Linkouts

Interactions

Show genetic interaction network for Enhancers & Suppressors

Phenotypic Class

Phenotype Manifest In

Suppressor of

Statement

Reference

Hsap\PINK1^ΔC.UAS, Scer\GAL4^Mhc.PW is a suppressor of wing phenotype of Pink1^RNAi.UAS.cYa, Scer\GAL4^Mhc.PW

(Yang et al., 2006)

Hsap\PINK1^ΔC.UAS, Scer\GAL4^Mhc.PW is a suppressor of indirect flight muscle cell phenotype of Pink1^RNAi.UAS.cYa, Scer\GAL4^Mhc.PW

(Yang et al., 2006)

Hsap\PINK1^ΔC.UAS, Scer\GAL4^Mhc.PW is a suppressor of muscle cell of leg depressor muscle phenotype of Pink1^RNAi.UAS.cYa, Scer\GAL4^Mhc.PW

(Yang et al., 2006)

NOT Suppressor of

Statement

Reference

Hsap\PINK1^ΔC.UAS, Scer\GAL4^da.G32 is a non-suppressor of mitochondrion phenotype of Pink1^RNAi.UAS.cYa, Scer\GAL4^da.G32

(Yang et al., 2006)

Hsap\PINK1^ΔC.UAS, Scer\GAL4^Mhc.PW is a non-suppressor of mitochondrion phenotype of Pink1^RNAi.UAS.cYa, Scer\GAL4^Mhc.PW

(Yang et al., 2006)

Hsap\PINK1^ΔC.UAS, Scer\GAL4^ple.PF is a non-suppressor of dopaminergic neuron phenotype of Pink1^RNAi.UAS.cYa, Scer\GAL4^ple.PF

(Yang et al., 2006)

Scer\GAL4^ple.PF/Hsap\PINK1^ΔC.UAS is a non-suppressor of dopaminergic neuron phenotype of Pink1^RNAi.UAS.cYa

(Yang et al., 2006)

Additional Comments

Genetic Interactions

Statement

Reference

Xenogenetic Interactions

Statement

Reference

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\PINK1^ΔC.Scer\UAS

Hsap\PINK1^ΔC.UAS

Name Synonyms

Secondary FlyBase IDs

References (2)

Report Sections

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