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General Information
Symbol
Dmel\Cyfip85.1
Species
D. melanogaster
Name
FlyBase ID
FBal0152179
Feature type
allele
Associated gene
Associated Insertion(s)
Carried in Construct
Also Known As
CYFIPΔ85.1
Allele class
Nature of the Allele
Allele class
Mutations Mapped to the Genome
 
Type
Location
Additional Notes
References
Associated Sequence Data
DNA sequence
Protein sequence
 
 
Progenitor genotype
Cytology
Nature of the lesion
Statement
Reference
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 )
Disease
Interaction
References
Comments on Models/Modifiers Based on Experimental Evidence ( 1 )
 

The disease model uses Sra-185.1/+ heterozygous flies.

Phenotypic Data
Phenotypic Class
Phenotype Manifest In

neuromuscular junction & synapse

Detailed Description
Statement
Reference

Sra-1EP3267/Sra-185.1 mutant pharate adults have rough eyes and display dark lenses in a speckled, random pattern indicating cone cell death. The ommatidia are occasionally misaligned or fused to their neighbours and some lack the typical smooth surface, instead showing crater-like intrusions indicative of lens material loss. Interommatidial bristles are often bent and appear soft and flat. Rhabdomeres appear bulky and never span the entire retina, either accumulating near the distal surface or underneath the retinal base (FM) in the lamina. The FM is mispositioned, leading to a markedly reduced retina depth. The rhabdomeres appear bulky and never span the entire retina. They either accumulate near the distal surface or underneath the retinal base (FM) in the lamina. The actin organisation of the FM is compromised and the polarised accumulation of dense cortical actin latices near the inner and outer lateral membrane of pigment cells is abolished.

Over 30% of Sra-1EP3267/Sra-185.1 pupal photoreceptors possess ectopic membrane protrusions projecting from the PR stalks, a phenomenon never observed in wild type, and gaps occur between the rhabdomeres and the cytoplasm. The rhabdomeres comprise a massive amount of membrane that occupies an area that is twice as large as in controls. However the space occupied by the actin rich rhabdomere terminal web (RTW) is not proportionally increased. Actin fingers that normally extend from the sub-rhabdomeric space into the RTW are absent in Sra-1EP3267/Sra-185.1 mutant cells. Microvillar structure and stacking appear normal. Photoreceptor adherens junctions are correctly specified but structurally compromised. Defects in cone cell shape and configuration are also seen.

Homozygous Sra-185.1 mutant eye clones lack pigmentation. The ommatidia are often misaligned or fused to their neighbours (on average 31 fusion events per eye) and some lack the typical smooth surface, instead showing crater-like intrusions indicative of lens material loss. Interommatidial bristles are often bent and appear soft and flat. Rhabdomeres appear bulky and never span the entire retina. They either accumulate near the distal surface or underneath the retinal base (FM) in the lamina. The FM is mispositioned, leading to a markedly reduced retina depth.

Heterozygous larvae show a significant reduction in synaptic length at the neuromuscular junction compared to wild type.

Mutant embryos show axon defects, including ectopic crossing of the midline by axons and ectopic branching of the intersegmental nerve. Sra-185.1 larvae have significantly shorter synapses at the neuromuscular junction compared to wild type. Heterozygous larvae have significantly shorter synapses at the neuromuscular junction (93.4 +/- 2.3 μm) compared to wild type (111.1 μm).

Mutant embryos exhibit abnormal longitudinal connectives. They are seen to cross the midline, sometimes several times, they are not well separated and show occasional breaks. Commissures are also thicker than in wild-type, and are not properly separated. Intersegmental nerves are also seen to stall and exhibit abnormal branching. Mutant synapses in third instar larvae also exhibit abnormalities. Mutant synapses display undergrowth (synaptic length is reduced to 67-70% of wild-type length), disturbed bouton structure, and supernumerary budding, mutants exhibit four or five times more buds than controls. When embryos are produced that lack both the maternal and zygotic Sra-1, the embryonic central nervous system is completely disrupted, embryonic lethality is also observed.

External Data
Interactions
Show genetic interaction network for Enhancers & Suppressors
Phenotypic Class
Suppressor of
Statement
Reference
Phenotype Manifest In
Suppressor of
Statement
Reference

Sra-1[+]/Cyfip85.1 is a suppressor of neuromuscular junction & synapse phenotype of Fmr1unspecified

Additional Comments
Genetic Interactions
Statement
Reference

The overgrown synapse phenotype seen at the neuromuscular junction of Fmr1unspecified/+ larvae is suppressed by one copy of Sra-185.1.

Xenogenetic Interactions
Statement
Reference
Complementation and Rescue Data
Comments

Expression of Sra-1EP3267 under the control of Scer\GAL4GMR.PF fully rescues the eye morphology defects seen in Sra-1EP3267/Sra-185.1 mutant pharate adults. The lethality associated with Sra-1EP3267/Sra-185.1 is not rescued.

Expression of Sra-1EP3267 under the control of Scer\GAL4lz-gal4 fully rescues the retinal fenestrated membrane integrity defects seen in Sra-1EP3267/Sra-185.1 mutant pharate adults. As result photoreceptors are kept in place and no longer fall into the lamina. The dark necrotic lenses seen in mutant flies are also absent. Some bulky rhabdomeres are still seen, but fewer than are seen in the mutant alone.

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)