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General Information
Symbol
Dmel\TER94A229E.UAS
Species
D. melanogaster
Name
FlyBase ID
FBal0258035
Feature type
allele
Associated gene
Associated Insertion(s)
Carried in Construct
Also Known As
UAS-TER94A229E
Allele class
Nature of the Allele
Allele class
Mutations Mapped to the Genome
 
Type
Location
Additional Notes
References
point mutation
Comment:

GCC to GAA/G mutation. Analogous mutation in human VCP implicated in inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 1; mutation carried on in vitro construct; site of nucleotide substitution in fly gene inferred by FlyBase curator based on reported amino acid change.

Associated Sequence Data
DNA sequence
Protein sequence
 
 
Progenitor genotype
Carried in construct
Cytology
Nature of the lesion
Statement
Reference

UAS regulatory sequences drive expression of an A229E mutant of TER94.

Allele components
Product class / Tool use(s)
Encoded product / tool
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 )
Modifiers Based on Experimental Evidence ( 1 )
Comments on Models/Modifiers Based on Experimental Evidence ( 0 )
 
Phenotypic Data
Phenotypic Class
Phenotype Manifest In
Detailed Description
Statement
Reference

Expression of TER94A229E.Scer\UAS under the control of Scer\GAL4Hand.PU does not cause any obvious morphological defects in the adult heart although the diastolic diameter and fractional shortening is reduced in both 1 and 5 weeks old flies compared to age-matched controls. Expression under the Scer\GAL4how-24B disrupts both the cardioblasts organization and the intersegmental somatic muscle pattern and leads to abnormal twisting of the dorsal vessel in stage 16 embryos.

Expression of TER94A229E.Scer\UAS under the control of Scer\GAL4C57 disrupts lysosomal tubular network in third instar larval muscles.

Flies expressing TER94A229E.Scer\UAS under the control of Scer\GAL4hs.PU exhibit increased ATPase activity and a reduction in cellular ATP level compared to controls.

Embryos overexpressing TER94A229E.Scer\UAS driven by Scer\GAL4how-24B display disorganised muscle fibers.

Flies expressing TER94A229E.Scer\UAS under the control of Scer\GAL4Mhc.PW show impaired flight.

Myofibrils from flies expressing TER94A229E.Scer\UAS under the control of Scer\GAL4Mhc.PW show disrupted sarcomeres without repetitive A-bands.

Flies expressing TER94A229E.Scer\UAS under the control of Scer\GAL4Mhc.PW and Scer\GAL80ts.αTub84B are able to fly normally at the permissive temperature, while they loose their ability to fly when shifted to the restrictive temperature.

Expression of TER94A229E.Scer\UAS under the control of Scer\GAL4elav-C155 results in a mushroom body midline-crossing phenotype in mutant brains.

Flies expressing TER94A229E.Scer\UAS under the control of Scer\GAL4elav-C155 exhibit olfactory learning deficits.

Rhabdomeres are disorganised in the retinas of flies expressing TER94A229E.Scer\UAS under the control of Scer\GAL4GMR.PF.

Eyes of flies expressing TER94A229E.Scer\UAS under the control of Scer\GAL4GMR.PF display noticeable roughness.

Retinas from flies expressing TER94A229E.Scer\UAS under the control of Scer\GAL4ninaE.PT show a cell-autonomous progressive degeneration of outer R cells and rhabdomere disorganisation. Dietary restriction does not mitigate the photoreceptor cell phenotype, although constant darkness does.

Heterozygosity for TER94k15502 ameliorates the rough eye and photoreceptor cell phenotypes resulting from the overexpression of TER94A229E.Scer\UAS under the control of Scer\GAL4GMR.PF.

Co-expression of TER94Scer\UAS.cCa and TER94A229E.Scer\UAS under the control of Scer\GAL4GMR.PF results in rough eye and photoreceptor cell abnormalities.

External Data
Interactions
Show genetic interaction network for Enhancers & Suppressors
Phenotypic Class
Enhanced by
Suppressed by
NOT suppressed by
Suppressor of
Statement
Reference
Other
Phenotype Manifest In
Enhanced by
Suppressed by
Statement
Reference
NOT suppressed by
Suppressor of
Statement
Reference
Additional Comments
Genetic Interactions
Statement
Reference

Co-expression of Ufd1-likeKK108134 with TER94A229E.Scer\UAS under the control of Scer\GAL4GMR.PF results in lethality.

Expression of sip3GD3145 enhances the rough eye phenotype and underlying photoreceptor degeneration seen when TER94A229E.Scer\UAS is expressed under the control of Scer\GAL4GMR.PF.

Expression of Der-1GD818 enhances the rough eye phenotype and underlying photoreceptor degeneration seen when TER94A229E.Scer\UAS is expressed under the control of Scer\GAL4GMR.PF.

Expression of Ufd1-likeScer\UAS.cLa has no apparent effect on the rough eye phenotype and underlying photoreceptor degeneration seen when TER94A229E.Scer\UAS is expressed under the control of Scer\GAL4GMR.PF.

Expression of sip3Scer\UAS.cLa has no apparent effect on the rough eye phenotype and underlying photoreceptor degeneration seen when TER94A229E.Scer\UAS is expressed under the control of Scer\GAL4GMR.PF.

Expression of Der-1Scer\UAS.cLa completely suppresses the rough eye phenotype and underlying photoreceptor degeneration seen when TER94A229E.Scer\UAS is expressed under the control of Scer\GAL4GMR.PF.

Expression of Der-1Scer\UAS.cLa restores the reduction in cellular ATP level seen when TER94A229E.Scer\UAS is expressed under the control of Scer\GAL4hs.PU. The increase in ATPase activity is also rescued.

Expression of Der-1ΔSHP.Scer\UAS fails to suppress the rough eye phenotype and underlying photoreceptor degeneration seen when TER94A229E.Scer\UAS is expressed under the control of Scer\GAL4GMR.PF.

Expression of Der-2Scer\UAS.cLa fails to suppress the rough eye phenotype and underlying photoreceptor degeneration seen when TER94A229E.Scer\UAS is expressed under the control of Scer\GAL4GMR.PF.

Expression of Der-1CT.Scer\UAS.T:Avic\GFP fails to suppress the rough eye phenotype and underlying photoreceptor degeneration seen when TER94A229E.Scer\UAS is expressed under the control of Scer\GAL4GMR.PF.

Expression of Der-1Scer\UAS.T:Zzzz\FLAG suppresses the rough eye phenotype and underlying photoreceptor degeneration seen when TER94A229E.Scer\UAS is expressed under the control of Scer\GAL4GMR.PF.

Expression of Der-1Scer\UAS.T:Hsap\MYC.cLa suppresses the rough eye phenotype and underlying photoreceptor degeneration seen when TER94A229E.Scer\UAS is expressed under the control of Scer\GAL4GMR.PF.

Expression of Der-1Δα.Scer\UAS suppresses the rough eye phenotype and underlying photoreceptor degeneration seen when TER94A229E.Scer\UAS is expressed under the control of Scer\GAL4GMR.PF.

Expression of Der-1L204G.Scer\UAS suppresses the rough eye phenotype and underlying photoreceptor degeneration seen when TER94A229E.Scer\UAS is expressed under the control of Scer\GAL4GMR.PF.

Expression of TER94A229E.Scer\UAS completely suppresses the severe eye defects seen when Der-1Scer\UAS.cLa is expressed under the control of Scer\GAL4GMR.PF.

Co-expression of PlipGD4965 under the control of Scer\GAL4ninaE.PT significantly suppresses the TER94A229E.Scer\UAS photoreceptor cell phenotype.

Co-expression of PlipKK108325 under the control of Scer\GAL4ninaE.PT significantly suppresses the TER94A229E.Scer\UAS photoreceptor cell phenotype.

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 (3)
Reported As
Symbol Synonym
TER94A229E.Scer\UAS
TER94A229E.UAS
TER94A229E
Name Synonyms
Secondary FlyBase IDs
    References (8)