FlyBase Allele Report: Dmel\Lrrk[R1069G.UAS]

General Information

Symbol

Dmel\Lrrk^R1069G.UAS

Species

D. melanogaster

Name

FlyBase ID

FBal0249348

Feature type

allele

Associated gene

Dmel\Lrrk

Associated Insertion(s)

Carried in Construct

P{UAS-Lrrk.R1069G}

Key Links

Genomic Maps

JBrowse

Transgenic product class

missense_variant

(Gehrke et al., 2010)

Mutagen

in vitro construct

Nature of the Allele

Transgenic product class

missense_variant

(Gehrke et al., 2010)

Mutagen

in vitro construct

(Gehrke et al., 2010)

Progenitor genotype

Carried in construct

P{UAS-Lrrk.R1069G}

Cytology

Description

UAS regulatory sequences drive expression of Lrrk carrying an R1069G amino acid substitution.

(Gehrke et al., 2010)

Allele components

Component

Use(s)

Regulatory region(s)

UAS

binary expression system - regulatory region

Encoded product / tool

Lrrk

Mutations Mapped to the Genome

Curation Data

Type

Location

Additional Notes

References

point_mutation

3R:20,639,575..20,639,575 [+]

Comment:

The R1069G mutation was reported relative to Lrrk-PB; analogous mutation in human LRRK2 implicated in Parkinson;disease 8; mutation carried on in vitro construct; site of nucleotide substitution in fly gene and specific disease association inferred by FlyBase curator.

(Imai et al., 2008)

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.

(Gehrke et al., 2010)

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

Phenotype Manifest In

Detailed Description

Statement

Reference

External Data

Linkouts

Interactions

Show genetic interaction network for Enhancers & Suppressors

Phenotypic Class

Enhancer of

Statement

Reference

Scer\GAL4^nSyb.PP/Lrrk^R1069G.UAS is an enhancer of abnormal locomotor behavior | adult stage phenotype of Hsap\SNCA^QUAS.cOa, Ncra\QF^QF2.nSyb

(Sarkar et al., 2021)

Scer\GAL4^nSyb.PP/Lrrk^R1069G.UAS is an enhancer of decreased cell number | adult stage phenotype of Hsap\SNCA^QUAS.cOa, Ncra\QF^QF2.nSyb

(Sarkar et al., 2021)

Lrrk^R1069G.UAS, Scer\GAL4^GMR.PF is an enhancer of visible phenotype of Scer\GAL4^GMR.PF, foxo^UAS.cKb

(Kanao et al., 2010)

Phenotype Manifest In

Enhancer of

Statement

Reference

Scer\GAL4^nSyb.PP/Lrrk^R1069G.UAS is an enhancer of outer medulla | adult stage phenotype of Hsap\SNCA^QUAS.cOa, Ncra\QF^QF2.nSyb

(Sarkar et al., 2021)

Scer\GAL4^nSyb.PP/Lrrk^R1069G.UAS is an enhancer of medulla intrinsic columnar neuron | adult stage | decreased number phenotype of Hsap\SNCA^QUAS.cOa, Ncra\QF^QF2.nSyb

(Sarkar et al., 2021)

Scer\GAL4^nSyb.PP/Lrrk^R1069G.UAS is an enhancer of dopaminergic medulla neuron | adult stage | decreased number phenotype of Hsap\SNCA^QUAS.cOa, Ncra\QF^QF2.nSyb

(Sarkar et al., 2021)

Lrrk^R1069G.UAS, Scer\GAL4^GMR.PF is an enhancer of eye phenotype of Scer\GAL4^GMR.PF, foxo^UAS.cKb

(Kanao et al., 2010)

Additional Comments

Genetic Interactions

Statement

Reference

The severity of the eye defects caused by expression of foxo^Scer\UAS.cKb under the control of Scer\GAL4^GMR.PF are enhanced by co-expression of Lrrk^{R1069G.Scer\UAS}.

(Kanao et al., 2010)

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

Lrrk^{R1069G.Scer\UAS}

Lrrk^R1069G.UAS

Name Synonyms

Secondary FlyBase IDs

References (4)

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