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General Information
Symbol
Dmel\TER94R152H.UAS
Species
D. melanogaster
Name
FlyBase ID
FBal0258033
Feature type
allele
Associated gene
Associated Insertion(s)
Carried in Construct
Also Known As
UAS-TER94R152H
Key Links
Allele class
Nature of the Allele
Allele class
Mutations Mapped to the Genome
 
Type
Location
Additional Notes
References
Nucleotide change:

G9990994A

Reported nucleotide change:

G?A

Amino acid change:

R152H | TER94-PA; R110H | TER94-PD; R177H | TER94-PE; R177H | TER94-PC

Reported amino acid change:

R152H

Comment:

R152H mutation reported relative to TER94-PA. Analogous mutation in human VCP implicated in IBMPFD1 and ALS14; mutation carried on in vitro construct; specific disease association inferred by FlyBase curator.

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 R152H 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 )
 
Disease-implicated variant(s)
 
This allele represents a human variant implicated in disease.
VCP:p.Arg155His
Variants Synonym(s)
VCP:p.Arg110His
External database links
Comments concerning this variant
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 TER94R152H.Scer\UAS under the control of Scer\GAL4C57 disrupts lysosomal tubular network in third instar larval muscles.

Embryos overexpressing TER94R152H.Scer\UAS driven by Scer\GAL4how-24B display disorganised muscle fibers.

Flies expressing TER94R152H.Scer\UAS under the control of Scer\GAL4Mhc.PW show impaired flight.

Expression of TER94R152H.Scer\UAS under the control of Scer\GAL4elav-C155 results in a mushroom body midline-crossing phenotype in mutant brains.

Flies expressing TER94R152H.Scer\UAS under the control of Scer\GAL4elav-C155 do not exhibit any detectable deficit in olfactory learning.

Rhabdomeres are disorganised in the retinas of flies expressing TER94R152H.Scer\UAS under the control of Scer\GAL4GMR.PF, although the eyes appear normal externally.

Retinas from flies expressing TER94R152H.Scer\UAS under the control of Scer\GAL4ninaE.PT show a cell-autonomous progressive degeneration of outer R cells and rhabdomere disorganisation. Dietary restriction ameliorates the photoreceptor cell phenotype. Constant darkness also mitigates photoreceptor degradation.

Heterozygosity for TER94k15502 ameliorates the rough eye and photoreceptor cell phenotypes resulting from the overexpression of TER94R152H.Scer\UAS under the control of Scer\GAL4GMR.PF.

Co-expression of TER94Scer\UAS.cCa and TER94R152H.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
Suppressed by
Statement
Reference
Phenotype Manifest In
Suppressed by
Additional Comments
Genetic Interactions
Statement
Reference

Expression of Der-1Scer\UAS.cLa completely suppresses the rough eye phenotype and underlying photoreceptor degeneration seen when TER94R152H.Scer\UAS is expressed under the control of Scer\GAL4GMR.PF.

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
TER94R152H.Scer\UAS
TER94R152H.UAS
TER94R152H
Name Synonyms
Secondary FlyBase IDs
    References (7)