FlyBase Allele Report: Hsap\LRRK2[R1441C.UAS.Tag:FLAG]

General Information

Symbol

Hsap\LRRK2^{R1441C.UAS.Tag:FLAG}

Species

H. sapiens

Name

FlyBase ID

FBal0284314

Feature type

allele

Associated gene

Hsap\LRRK2

Associated Insertion(s)

Carried in Construct

P{UAS-LRRK2.R1441C.FLAG}

Also Known As

R1441C

Key Links

Transgenic product class

missense_variant

(Lin et al., 2010)

Mutagen

in vitro construct

Nature of the Allele

Transgenic product class

missense_variant

(Lin et al., 2010)

Mutagen

in vitro construct

(Lin et al., 2010)

Progenitor genotype

Carried in construct

P{UAS-LRRK2.R1441C.FLAG}

Cytology

Description

UASt regulatory sequences drive expression of Hsap\LRRK2 carrying amino acid substitution R1441C tagged with Tag:FLAG at the N-terminus.

(Lin et al., 2010)

Allele components

Component

Use(s)

Regulatory region(s)

UASt

binary expression system - regulatory region

Encoded product / tool

Hsap\LRRK2

Tagged with

Tag:FLAG

epitope tag

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

CEA

(Godena et al., 2014)

Modifiers Based on Experimental Evidence ( 1 )

Disease

Interaction

References

model of Parkinson's disease

is ameliorated by HDAC6^KK100215

(Godena et al., 2014)

is ameliorated by Sirt2^GD11528

(Godena et al., 2014)

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

Disease-implicated variant(s)

This allele represents a human variant implicated in disease.

(Lin et al., 2010)

LRRK2:p.Arg1441Cys

(FlyBase curators, 2019-)

Variants Synonym(s)

Associated human disease model(s)

Parkinson disease 8

External database links

ClinVar: LRRK2_1938

Comments concerning this variant

Phenotypic Data

Phenotypic Class

abnormal flight, with Scer\GAL4^Toll-6-D42

(Godena et al., 2014)

abnormal locomotor behavior | adult stage, with Scer\GAL4^Toll-6-D42

(Godena et al., 2014)

abnormal neuroanatomy | third instar larval stage, with Scer\GAL4^109(2)80

(Lin et al., 2010)

Phenotype Manifest In

dendrite | third instar larval stage, with Scer\GAL4^109(2)80

(Lin et al., 2010)

dendritic arborizing neuron | third instar larval stage, with Scer\GAL4^109(2)80

(Lin et al., 2010)

embryonic/larval motor neuron | larval stage, with Scer\GAL4^Toll-6-D42

(Godena et al., 2014)

Detailed Description

Statement

Reference

Axonal transport of mitochondria is disrupted in larval motor neurons expressing Hsap\LRRK2^{R1441C.Scer\UAS.T:Zzzz\FLAG} under the control of Scer\GAL4^D42.

Climbing and flight ability are reduced compared to controls in flies expressing Hsap\LRRK2^{R1441C.Scer\UAS.T:Zzzz\FLAG} under the control of Scer\GAL4^D42.

(Godena et al., 2014)

Flies expressing Hsap\LRRK2^{R1441C.Scer\UAS.T:Zzzz\FLAG} under the control of Scer\GAL4^ple.PG do not show a progressive reduction in electroretinogram amplitude (there is no significant difference in the amplitude seen in 3 and 28 day old flies).

(Hindle et al., 2013)

Expression of Hsap\LRRK2^{R1441C.Scer\UAS.T:Zzzz\FLAG} in dendritic arborization (DA) neurons using Scer\GAL4^109(2)80 engenders dendrite arborization defects as shown by the quantification of numbers of dendritic ends in the dorsal field of A6 segments in third instar larvae.

(Lin et al., 2010)

External Data

Linkouts

Interactions

Show genetic interaction network for Enhancers & Suppressors

Phenotypic Class

Suppressed by

Statement

Reference

Hsap\LRRK2^{R1441C.UAS.Tag:FLAG}, Scer\GAL4^GMR.PU, grim^GMR.PU has visible phenotype, suppressible by Akt^{T342D.S505D.GMR}, Scer\GAL4^GMR.PU

(Chuang et al., 2014)

Hsap\LRRK2^{R1441C.UAS.Tag:FLAG}, Scer\GAL4^Toll-6-D42 has abnormal locomotor behavior | adult stage phenotype, suppressible by HDAC6^KK100215, Scer\GAL4^Toll-6-D42

(Godena et al., 2014)

Hsap\LRRK2^{R1441C.UAS.Tag:FLAG}, Scer\GAL4^Toll-6-D42 has abnormal locomotor behavior | adult stage phenotype, suppressible by Sirt2^GD11528, Scer\GAL4^Toll-6-D42

(Godena et al., 2014)

NOT Suppressor of

Statement

Reference

Hsap\LRRK2^{R1441C.UAS.Tag:FLAG}/Scer\GAL4^GMR.PU is a non-suppressor of visible phenotype of grim^GMR.PU

(Chuang et al., 2014)

Phenotype Manifest In

Suppressed by

Statement

Reference

Hsap\LRRK2^{R1441C.UAS.Tag:FLAG}, Scer\GAL4^GMR.PU, grim^GMR.PU has eye phenotype, suppressible by Akt^{T342D.S505D.GMR}, Scer\GAL4^GMR.PU

(Chuang et al., 2014)

Hsap\LRRK2^{R1441C.UAS.Tag:FLAG}, Scer\GAL4^GMR.PU, grim^GMR.PU has ommatidium phenotype, suppressible by Akt^{T342D.S505D.GMR}, Scer\GAL4^GMR.PU

(Chuang et al., 2014)

Hsap\LRRK2^{R1441C.UAS.Tag:FLAG}, Scer\GAL4^Toll-6-D42 has embryonic/larval motor neuron | larval stage phenotype, suppressible by HDAC6^KK100215, Scer\GAL4^Toll-6-D42

(Godena et al., 2014)

Hsap\LRRK2^{R1441C.UAS.Tag:FLAG}, Scer\GAL4^Toll-6-D42 has embryonic/larval motor neuron | larval stage phenotype, suppressible by Sirt2^GD11528, Scer\GAL4^Toll-6-D42

(Godena et al., 2014)

NOT Suppressor of

Statement

Reference

Hsap\LRRK2^{R1441C.UAS.Tag:FLAG}/Scer\GAL4^GMR.PU is a non-suppressor of eye phenotype of grim^GMR.PU

(Chuang et al., 2014)

Hsap\LRRK2^{R1441C.UAS.Tag:FLAG}/Scer\GAL4^GMR.PU is a non-suppressor of ommatidium phenotype of grim^GMR.PU

(Chuang et al., 2014)

Additional Comments

Genetic Interactions

Statement

Reference

Expression of Hsap\LRRK2^{R1441C.Scer\UAS.T:Zzzz\FLAG} under the control of Scer\GAL4^GMR.PU does not significantly suppress the eye phenotypes seen upon expression of grim^GMR.PU.

(Chuang et al., 2014)

Xenogenetic Interactions

Statement

Reference

Co-expression of either HDAC6^KK100215 or Sirt2^GD11528 suppresses the defects in axonal transport of mitochondria seen in larval motor neurons expressing Hsap\LRRK2^{R1441C.Scer\UAS.T:Zzzz\FLAG} under the control of Scer\GAL4^D42.

Co-expression of either HDAC6^KK100215 or Sirt2^GD11528 significantly rescues the defects in flight ability seen in flies expressing Hsap\LRRK2^{R1441C.Scer\UAS.T:Zzzz\FLAG} under the control of Scer\GAL4^D42.

(Godena et al., 2014)

Complementation and Rescue Data

Comments

Images (0)

Mutant

Wild-type

Stocks (1)

Bloomington

602458

w^*; P{UAS-LRRK2.R1441C.FLAG}3

Notes on Origin

Discoverer

External Crossreferences and Linkouts ( 0 )

Synonyms and Secondary IDs (2)

Reported As

Symbol Synonym

Hsap\LRRK2^{R1441C.Scer\UAS.T:Zzzz\FLAG}

Hsap\LRRK2^{R1441C.UAS.Tag:FLAG}

Name Synonyms

Secondary FlyBase IDs

References (7)

Report Sections

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