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General Information
Symbol
Dmel\Vha100-14
Species
D. melanogaster
Name
FlyBase ID
FBal0194363
Feature type
allele
Associated gene
Associated Insertion(s)
Carried in Construct
Also Known As
v1004
Nature of the Allele
Mutations Mapped to the Genome
 
Type
Location
Additional Notes
References
point mutation
Nucleotide change:
G29137351A
Comment:
G to A mutation in the splice acceptor site.
Associated Sequence Data
DNA sequence
Protein sequence
 
 
Progenitor genotype
Cytology
Nature of the lesion
Statement
Reference
Nucleotide substitution: G?A.
Mutation of the splice acceptor site at the start of exon 10.
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 )
 
Phenotypic Data
Phenotypic Class
Phenotype Manifest In
Detailed Description
Statement
Reference
Vha100-14 mutant photoreceptor clones display defects in neurotransmission, as shown by loss of "on" transients in electroretinogram (ERG) recordings.
The electroretinogram of mutant photoreceptors lacks the on transient. Mutant photoreceptor neurons show a reduction in acidification (measured using Lysotracker fluorescence) at 40% of pupal development compared to wild-type cells. Acidification before neuronal differentiation is normal in the mutants. Mutant photoreceptor terminals contain aberrant multivesicular structures and double-membrane autophagosomal vacuoles. Animals expressing Vha100-1R755A.Scer\UAS under the control of Scer\GAL4unspecified in a Vha100-14 background show loss of photoreceptors and have a reduced eye phenotype. The electroretinogram depolarisation is indistinguishable from wild type in 1 week old mutant photoreceptors. However, a weak reduction in depolarisation becomes apparent after 3 weeks and progressively worsens by 5 weeks. This progressive reduction in depolarisation is seen under both 12 hour light: 12 hour dark and constant darkness conditions. The 5 week old mutant photoreceptors show a loss of most discernible rhabdomere structure.
Flies in which the retina is homozygous for Vha100-14 (made using the 'ey-flp' system described in FBrf0125463) consistently fail to walk toward light in a phototaxis assay. Electro-retinograms from these animals display normal depolarization in response to light stimuli, but exhibit a complete loss of 'on' and 'off' transients, indicative of a failure to evoke a postsynaptic response.
External Data
Interactions
Show genetic interaction network for Enhancers & Suppressors
Phenotypic Class
Phenotype Manifest In
Additional Comments
Genetic Interactions
Statement
Reference
The rough eye phenotype of Syx1AScer\UAS.cBa; Scer\GAL4GMR.PF flies raised at 18oC is largely suppressed when the eye is made homozygous for Vha100-14.
Xenogenetic Interactions
Statement
Reference
Complementation and Rescue Data
Partially rescued by
Comments
Expression of Vha100-1N509Q.Scer\UAS under the control of Scer\GAL4GMR.PF fully rescues the neurotransmission defects seen when photoreceptors are mutant for Vha100-14. Expression of Vha100-1N509Q.Scer\UAS under the control of Scer\GAL4elav-C155 fully rescues the lethality seen in Vha100-14/Df(3R)3450 mutants.
The on transient of the electroretinogram is significantly rescued in Vha100-14 mutant photoreceptors in which Vha100-1R755A.Scer\UAS is expressed under the control of Scer\GAL4unspecified, although this is accompanied by a pronounced decrease in electroretinogram depolarisation. The acidification defects seen in Vha100-14 mutant photoreceptors after neuronal differentiation are not rescued by expression of Vha100-1R755A.Scer\UAS in the photoreceptors under the control of Scer\GAL4unspecified.
Images (0)
Mutant
Wild-type
Stocks (0)
Notes on Origin
Discoverer
External Crossreferences and Linkouts ( 0 )
Synonyms and Secondary IDs (4)
Reported As
Name Synonyms
Secondary FlyBase IDs
    References (6)