FlyBase Allele Report: Dmel\FIG4[KK102943]

General Information

Symbol

Dmel\FIG4^KK102943

Species

D. melanogaster

Name

FlyBase ID

FBal0232111

Feature type

allele

Associated gene

Dmel\FIG4

Associated Insertion(s)

Carried in Construct

P{KK102943}

Also Known As

UAS-dFIG4-IR_605-714, UAS-dFIG4-IR_1878-2207

Key Links

Genomic Maps

JBrowse

Transgenic product class

RNAi_reagent

(Keleman et al., 2009.8.5)

Mutagen

in vitro construct

Nature of the Allele

Transgenic product class

RNAi_reagent

(Keleman et al., 2009.8.5)

Mutagen

in vitro construct

(Keleman et al., 2009.8.5)

Progenitor genotype

Carried in construct

P{KK102943}

Cytology

Description

UASt regulatory sequences drive expression of an inverted repeat.

(Keleman et al., 2009.8.5)

Allele components

Component

Use(s)

Regulatory region(s)

UASt

binary expression system - regulatory region

Encoded product / tool

dsRNA-KK102943

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 Charcot-Marie-Tooth disease

CEA

(Kyotani et al., 2016)

model of neurodegenerative disease

CEA

(Muraoka et al., 2021, Kushimura et al., 2018, Muraoka et al., 2018)

model of Charcot-Marie-Tooth disease type 4J

CEC

(Shimada et al., 2020)

Modifiers Based on Experimental Evidence ( 1 )

Disease

Interaction

References

model of neurodegenerative disease

is ameliorated by HDAC1⁰⁴⁵⁵⁶

(Muraoka et al., 2021)

is ameliorated by HDAC1³⁰³

(Muraoka et al., 2021)

is ameliorated by HDAC1^def24

(Muraoka et al., 2021)

is ameliorated by hpRNA:CR18854^RNAi.UAS.cUa

(Muraoka et al., 2018)

is exacerbated by Cyp4e3^GD1042

(Muraoka et al., 2018)

is ameliorated by CG13117^GLC01761

(Muraoka et al., 2018)

is ameliorated by hpRNA:CR18854^VSH33053

(Muraoka et al., 2018)

is ameliorated by CG13123^JF02423

(Muraoka et al., 2018)

is exacerbated by CG4036^GD11195

(Muraoka et al., 2018)

is exacerbated by CG4537^RNAi.UAS.cUa

(Muraoka et al., 2018)

is ameliorated by lncRNA:Hsrω^RNAi.Sym.UAS

(Muraoka et al., 2018)

is ameliorated by nAChRα6^RNAi.UAS.cUa

(Muraoka et al., 2018)

is ameliorated by ppk18^RNAi.UAS.cUa

(Muraoka et al., 2018)

is ameliorated by nAChRα6^RNAi.UAS.cUa

(Muraoka et al., 2018)

is ameliorated by hpo^KC202

(Kushimura et al., 2018)

is ameliorated by hpo^KS240

(Kushimura et al., 2018)

model of Charcot-Marie-Tooth disease type 4J

is ameliorated by asRNA:CR43467^HMJ22886

(Shimada et al., 2020)

is ameliorated by asRNA:CR43467^GD604

(Shimada et al., 2020)

Comments on Models/Modifiers Based on Experimental Evidence ( 1 )

FlyBase curator comment: "Charcot-Marie-Tooth disease type 4J" is associated with human FIG4.

(Shimada et al., 2020)

Disease-implicated variant(s)

Phenotypic Data

Phenotypic Class

Phenotype Manifest In

cone cell | P-stage, with Scer\GAL4^GMR.PU

(Kyotani et al., 2016)

embryonic/larval fat body | third instar larval stage, with Scer\GAL4^fat

(Kyotani et al., 2016)

embryonic/larval fat body | third instar larval stage, with Scer\GAL4^Lsp2.PH

(Shimada et al., 2020)

embryonic/larval neuromuscular junction | third instar larval stage, with Scer\GAL4^elav.PLu

(Kyotani et al., 2016)

embryonic/larval neuromuscular junction | third instar larval stage, with Scer\GAL4^nSyb.PU

(Shimada et al., 2020)

eye, with Scer\GAL4^GMR.PU

(Shimada et al., 2020, Kyotani et al., 2016)

eye disc | third instar larval stage, with Scer\GAL4^GMR.PU

(Kyotani et al., 2016)

eye photoreceptor cell | third instar larval stage, with Scer\GAL4^GMR.PU

(Kyotani et al., 2016)

lysosome | third instar larval stage, with Scer\GAL4^fat

(Kyotani et al., 2016)

lysosome | third instar larval stage, with Scer\GAL4^Lsp2.PH

(Shimada et al., 2020)

NMJ bouton | third instar larval stage, with Scer\GAL4^nSyb.PU

(Shimada et al., 2020)

ommatidium | P-stage, with Scer\GAL4^GMR.PU

(Kyotani et al., 2016)

secondary pigment cell | P-stage, with Scer\GAL4^GMR.PU

(Kyotani et al., 2016)

tertiary pigment cell | P-stage, with Scer\GAL4^GMR.PU

(Kyotani et al., 2016)

Detailed Description

Statement

Reference

The expression of FIG4^KK102943 under the control of Scer\GAL4^GMR.PU induces a rough eye phenotype.

Expression under control of Scer\GAL4^nSyb.PU leads to significantly shorter third instar larval muscle 4 neuromuscular junctions, with significantly fewer boutons, as compared to controls.

Expression under the control of Scer\GAL4^Lsp2.PH leads to significantly enlarged vacuoles/lysosomes (Lysotracker) in the third instar larval fat body, as compared to controls.

(Shimada et al., 2020)

Flies with expression of FIG4^KK102943 driven by Scer\GAL4^elav.PLu have significantly shorter life spans and show locomotion defects (reduced climbing ability at 3 days old, more prominent reductions at 14 days old) compared to control flies, and total synaptic branch length of motor neurons at the neuromuscular junction is significantly decreased in third instar larvae.

Flies with expression of FIG4^KK102943 driven by Scer\GAL4^GMR.PU have a rough eye phenotype, with fusion of ommatidia and a lack of bristles; all 8 photoreceptor cells appear to differentiate normally, though there are severe photoreceptor axonal targeting aberrations in eye imaginal discs and in pupal retinae there is frequent loss of a cone cell in many ommatidia, along with extra secondary or tertiary pigment-like cells surrounding the cone cells.

Third instar larvae with expression of FIG4^KK102943 driven by Scer\GAL4^fat have enlarged lysosomes in fat body compared to controls.

(Kyotani et al., 2016)

External Data

Linkouts

Interactions

Show genetic interaction network for Enhancers & Suppressors

Phenotypic Class

Suppressed by

Statement

Reference

FIG4^KK102943, Scer\GAL4^GMR.PU has visible | adult stage phenotype, suppressible | partially by +/Df(2R)X1

(Shimada et al., 2020)