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General Information
Symbol
Dmel\Vha100-11
Species
D. melanogaster
Name
FlyBase ID
FBal0194360
Feature type
allele
Associated gene
Associated Insertion(s)
Carried in Construct
Key Links
Nature of the Allele
Mutations Mapped to the Genome
 
Type
Location
Additional Notes
References
Nucleotide change:

G29135261A

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 7.

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 )
 
Disease-implicated variant(s)
 
Phenotypic Data
Phenotypic Class
Phenotype Manifest In

eye photoreceptor cell & synapse | somatic clone

synaptic vesicle & eye photoreceptor cell | somatic clone

Detailed Description
Statement
Reference

Vha100-11 homozygous whole-eye clones, induced in the third instar larva, lose on-off retinal transients in response to short light pulses in the adult.

Vha100-12 in combination with Vha100-12, Vha100-13, Vha100-14, Vha100-15 or Df(3R)3450 develop to late embryonic stages, but fail to hatch. The same phenotype is seen when these embryos are born to mothers with a Vha100-11 homozygous germ-line.

Flies in which the retina is homozygous for Vha100-11 (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.

When eye photoreceptor cells are selectively made homozygous for Vha100-11 (using Scer\FLP1ey.3.5.hs; Scer\FRT Vha100-11/Scer\FRT 'cell-lethal'), their projections into the brain appear normal. Despite some subtle defects in the lamina, the cartridges of the lamina also appear normally organised. However, mutant terminals show an approximately 2.5 fold (p<0.0001) increase in vesicle density compared to wild-type. In addition the number of capitate projections (dynamically active invaginations of the surrounding epithelial glia associated with vesicle endocytosis) is reduced (p<0.001) and some mutant terminals appear enlarged. The numbers of active zones and mitochondria per terminal are unaltered in mutant photoreceptor cells.

The frequency, but not the amplitude, of mini excitatory postsynaptic currents is significantly reduced (p<0.05) at the neuromuscular junctions of Vha100-11/Df(3R)3450 embryos. However, excitatory postsynaptic currents induced by stimulation of the motor nerve supplying muscle 6 in these embryos have significantly lower amplitudes and higher failure rate than in wild-type. As in wild-type, postsynaptic currents are induced in response to application of a hypertonic solution at the neuromuscular junction.

Assays of dye-uptake (FM1-43) into boutons at neuromuscular junctions indicate a significant reduction in vesicle cycling at unstimulated junctions of Vha100-11/Df(3R)3450 embryos compared to wild-type.

External Data
Interactions
Show genetic interaction network for Enhancers & Suppressors
Phenotypic Class
Suppressor of
Statement
Reference
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 Vha100-11.

Xenogenetic Interactions
Statement
Reference

Vha100-11/+ does not fully suppress the increased excitatory junction potential EJP amplitude seen in Hsap\HD128Q.FL.Scer\UAS, Scer\GAL4elav-C155 animals, and fails to suppress the increased release probability at 0.25 mM Ca[2+].

Vha100-11/+ does not suppress the reduced number of rhabdomeres per ommatidium phenotype seen in Hsap\HD128Q.FL.Scer\UAS, Scer\GAL4GMR.PF animals at 20 days.

Complementation and Rescue Data
Images (0)
Mutant
Wild-type
Stocks (1)
Notes on Origin
Discoverer
External Crossreferences and Linkouts ( 0 )
Synonyms and Secondary IDs (6)
Reported As
Name Synonyms
Secondary FlyBase IDs
    References (7)