FlyBase Allele Report: Hsap\LRRK2[RG.UAS]

General Information

Symbol

Hsap\LRRK2^RG.UAS

Species

H. sapiens

Name

FlyBase ID

FBal0323547

Feature type

allele

Associated gene

Hsap\LRRK2

Associated Insertion(s)

Carried in Construct

P{UAS-hLRRK2.RG}

Key Links

Transgenic product class

missense_variant

(Imai et al., 2015)

Mutagen

in vitro construct

Nature of the Allele

Transgenic product class

missense_variant

(Imai et al., 2015)

Mutagen

in vitro construct

(Imai et al., 2015)

Progenitor genotype

Carried in construct

P{UAS-hLRRK2.RG}

Cytology

Description

UASt regulatory sequences drive expression of Hsap\LRRK2 carrying a ROC domain pathogenic mutation.

(Imai et al., 2015)

Allele components

Component

Use(s)

Regulatory region(s)

UASt

binary expression system - regulatory region

Encoded product / tool

Hsap\LRRK2

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 Parkinson's disease 8

CEA

(Imai et al., 2015)

Modifiers Based on Experimental Evidence ( 1 )

Disease

Interaction

References

model of Parkinson's disease 8

is exacerbated by neur^{ΔRING.UAS.EGFP}

(Imai 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.

(Imai et al., 2015)

LRRK2:p.Arg1441Gly

(FlyBase curators, 2019-)

Variants Synonym(s)

Associated human disease model(s)

Parkinson disease 8

External database links

ClinVar: LRRK2_1936

Comments concerning this variant

Phenotypic Data

Phenotypic Class

abnormal flight, with Scer\GAL4^ple.PU

(Imai et al., 2015)

abnormal neuroanatomy | adult stage, with Scer\GAL4^ple.PU

(Imai et al., 2015)

decreased cell number | adult stage, with Scer\GAL4^ple.PU

(Imai et al., 2015)

Phenotype Manifest In

dopaminergic PPM1 neuron | adult stage, with Scer\GAL4^ple.PU

(Imai et al., 2015)

dopaminergic PPM2 neuron | adult stage, with Scer\GAL4^ple.PU

(Imai et al., 2015)

Detailed Description

Statement

Reference

Expression of Hsap\LRRK2^RG.Scer\UAS under the control of Scer\GAL4^ple.PU (together with tub-Gal80[ts] to limit the time of expression to adulthood) results in a loss of dopaminergic neurons from the PPM1/2 cluster in the adult brain and severe age-dependent decline in flight activity.

(Imai et al., 2015)

External Data

Linkouts

Interactions

Show genetic interaction network for Enhancers & Suppressors

Phenotypic Class

Suppressed by

Statement

Reference

Hsap\LRRK2^RG.UAS, Scer\GAL4^ple.PU has abnormal neuroanatomy | adult stage phenotype, suppressible | partially by HERC2^VDRC.cUa, Scer\GAL4^ple.PU

(Imai et al., 2015)

Hsap\LRRK2^RG.UAS, Scer\GAL4^ple.PU has abnormal flight phenotype, suppressible | partially by HERC2^VDRC.cUa, Scer\GAL4^ple.PU

(Imai et al., 2015)

Hsap\LRRK2^RG.UAS, Scer\GAL4^ple.PU has decreased cell number | adult stage phenotype, suppressible | partially by Delta^GD2642, Scer\GAL4^ple.PU

(Imai et al., 2015)

Hsap\LRRK2^RG.UAS, Scer\GAL4^ple.PU has abnormal neuroanatomy | adult stage phenotype, suppressible | partially by Delta^GD2642, Scer\GAL4^ple.PU

(Imai et al., 2015)

Hsap\LRRK2^RG.UAS, Scer\GAL4^ple.PU has abnormal flight phenotype, suppressible | partially by Delta^GD2642, Scer\GAL4^ple.PU

(Imai et al., 2015)

Hsap\LRRK2^RG.UAS, Scer\GAL4^ple.PU has decreased cell number | adult stage phenotype, suppressible | partially by Neurl4^GD11930, Scer\GAL4^ple.PU

(Imai et al., 2015)

Hsap\LRRK2^RG.UAS, Scer\GAL4^ple.PU has abnormal neuroanatomy | adult stage phenotype, suppressible | partially by Neurl4^GD11930, Scer\GAL4^ple.PU

(Imai et al., 2015)

Hsap\LRRK2^RG.UAS, Scer\GAL4^ple.PU has abnormal flight phenotype, suppressible | partially by Neurl4^GD11930, Scer\GAL4^ple.PU

(Imai et al., 2015)

Hsap\LRRK2^RG.UAS, Scer\GAL4^ple.PU has decreased cell number | adult stage phenotype, suppressible | partially by HERC2^VDRC.cUa, Scer\GAL4^ple.PU

(Imai et al., 2015)

Enhancer of

Statement

Reference

Hsap\LRRK2^RG.UAS/Scer\GAL4^dpp.PU is an enhancer of visible | adult stage phenotype of neur^{ΔRING.UAS.EGFP}

(Imai et al., 2015)

Other

Statement

Reference

Delta^UAS.cUa, Hsap\LRRK2^RG.UAS, Scer\GAL4^dpp.PU has visible | adult stage phenotype

(Imai et al., 2015)

Phenotype Manifest In

Suppressed by

Statement

Reference

Hsap\LRRK2^RG.UAS, Scer\GAL4^ple.PU has dopaminergic PPM1 neuron | adult stage phenotype, suppressible | partially by Neurl4^GD11930, Scer\GAL4^ple.PU

(Imai et al., 2015)

Hsap\LRRK2^RG.UAS, Scer\GAL4^ple.PU has dopaminergic PPM2 neuron | adult stage phenotype, suppressible | partially by Neurl4^GD11930, Scer\GAL4^ple.PU

(Imai et al., 2015)

Hsap\LRRK2^RG.UAS, Scer\GAL4^ple.PU has dopaminergic PPM1 neuron | adult stage phenotype, suppressible | partially by HERC2^VDRC.cUa, Scer\GAL4^ple.PU

(Imai et al., 2015)

Hsap\LRRK2^RG.UAS, Scer\GAL4^ple.PU has dopaminergic PPM2 neuron | adult stage phenotype, suppressible | partially by HERC2^VDRC.cUa, Scer\GAL4^ple.PU

(Imai et al., 2015)

Hsap\LRRK2^RG.UAS, Scer\GAL4^ple.PU has dopaminergic PPM1 neuron | adult stage phenotype, suppressible | partially by Delta^GD2642, Scer\GAL4^ple.PU

(Imai et al., 2015)

Hsap\LRRK2^RG.UAS, Scer\GAL4^ple.PU has dopaminergic PPM2 neuron | adult stage phenotype, suppressible | partially by Delta^GD2642, Scer\GAL4^ple.PU

(Imai et al., 2015)

Enhancer of

Statement

Reference

Hsap\LRRK2^RG.UAS/Scer\GAL4^dpp.PU is an enhancer of wing margin phenotype of neur^{ΔRING.UAS.EGFP}

(Imai et al., 2015)

Other

Statement

Reference

Delta^UAS.cUa, Hsap\LRRK2^RG.UAS, Scer\GAL4^dpp.PU has wing margin phenotype

(Imai et al., 2015)

Additional Comments

Genetic Interactions

Statement

Reference

Xenogenetic Interactions

Statement

Reference

The loss of dopaminergic neurons from the PPM1/2 cluster in the adult brain and severe age-dependent decline in flight activity characteristic for flies expressing Hsap\LRRK2^RG.Scer\UAS under the control of Scer\GAL4^ple.PU (together with tub-Gal80[ts] to limit the time of expression to adulthood) is significantly suppressed by co-expression of any of the following: Neurl4^GD11930, HERC2^VDRC.cUa or Dl^GD2642.

Flies expressing Dl^Scer\UAS.cUa under the control of Scer\GAL4^dpp.PU and kept at 18[o]C do not display any overt wing phenotype but show notching phenotype upon co-expression of Hsap\LRRK2^RG.Scer\UAS.

The wing notching phenotype characteristic for adults expressing neur^{ΔRING.Scer\UAS.T:Avic\GFP-EGFP} under the control of Scer\GAL4^dpp.PU is exacerbated by co-expression of any of Hsap\LRRK2^RG.Scer\UAS.

(Imai et al., 2015)

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\LRRK2^RG.Scer\UAS

Hsap\LRRK2^RG.UAS

hLRRK2^RG

(Imai et al., 2015)

Name Synonyms

Secondary FlyBase IDs

References (2)

Report Sections

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