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General Information
Symbol
Dmel\Pph13hazy
Species
D. melanogaster
Name
FlyBase ID
FBal0218119
Feature type
allele
Associated gene
Associated Insertion(s)
Carried in Construct
Key Links
Allele class
Nature of the Allele
Allele class
Mutations Mapped to the Genome
 
Type
Location
Additional Notes
References
Nucleotide change:

G578283A

Amino acid change:

W57term | Pph13-PA

Reported amino acid change:

W58term

Comment:

G to A nucleotide change at the second or third position of the Trp codon leads to a nonsense mutation (exact site of mutation unspecified). Site of nucleotide substitution in mutant inferred by FlyBase based on reported amino acid change. Site of amino acid change reported in context of surrounding amino acids. TEARVQVWFQ changes to TEARVQV@FQ in mutant.

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

Amino acid replacement: W58term.

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
Detailed Description
Statement
Reference

Pph13hazy mutant adults exhibit normal phototactic behavior on the day of eclosion and at 5 days old, but exhibit a failure in phototaxis at 10 days of age, as compared to wild type.

The photoreceptors in Pph13hazy mutants differentiate normally. Larval Rh6 photoreceptors do not undergo apoptosis during pupation and are maintained into the adult, leading to a bigger eyelet that consists of about 12 photoreceptors.

The process of rhabdomere initiation has begun in mutant photoreceptor cells at 60 hours after puparium formation (APF), as in wild-type photoreceptors. However, the mutant photoreceptors show clear disorganisation of the initial stages of rhabdomere elaboration. At 72 hours APF, continuing defects in rhabdomere morphogenesis are seen. At 96 hours APF discernible rhabdomere structures are present, but they are smaller than normal and misshapen.

The rhabdomeres of the ocelli in mutant flies show little difference from those in wild-type controls.

Mutant adults lack the deep pseudopupil. The mutants have an abnormal electroretinogram; they respond reproducibly to long durations of high intensity light and the characteristic on- and off-transients seen in wild-type flies are absent. By 10 days after eclosion, the flies appear to lose all responses to light.

All photoreceptor cells and rhabdomeres are present in the eyes of mutant adults. However, the rhabdomeres are severely malformed, usually being significantly smaller in size than normal. The microvilli within each rhabdomere are often misaligned. The rhabdomeres do not consistently extend the entire thickness of the retina. Ultrastructural analysis of the mutant rhabdomeres does not reveal any clear signs of degeneration; the rhabdomere terminal web is formed in the mutant flies and no large concentration of vesicles or multivesicular bodies are seen.

At 60 hours after pupariation (APF), no discernible ultrastructural defects are seen in mutant photoreceptor cells. However, at 72 hours APF, the microvilli of mutant photoreceptor cells are misaligned and loosely packed and at 96 hours APF, there is a severe lack of growth and elongation of the mutant rhabdomere microvilli.

External Data
Interactions
Show genetic interaction network for Enhancers & Suppressors
Phenotypic Class
Phenotype Manifest In
Enhanced by
Statement
Reference
Other
Additional Comments
Genetic Interactions
Statement
Reference

Newly eclosed ocuvi ; Pph13hazy double mutant adults show a complete loss of rhabdomere formation; in the majority of ommatidia there are no detectable rhabdomeres, while in a few ommatidia only rudimentary structures containing some juxtaposed membrane are seen distally.

The process of rhabdomere initiation has begun in photoreceptor cells at 60 hours after puparium formation (APF) in ocuvi ; Pph13hazy double mutants, as in wild-type photoreceptors. However, the mutant photoreceptors show clear disorganisation of the initial stages of rhabdomere elaboration. At 72 hours APF the defects in rhabdomere morphogenesis in the double mutant are more severe than in either single mutant; the apical rhabdomeric membrane lacks any definable shape and organisation in the double mutant. By 96 hours APF no rhabdomere is recognisable in the double mutants. Instead, there is a region of apical membrane that extends out into the inter-rhabdomeral space in distal portions of the retina, but this membrane lacks any organised structure. This membrane structure is visible along the entire length of the photoreceptor cell. No photoreceptor cell structures can be discerned beyond approximately 20μm from the surface of the retina, compared with 100μm for a wild-type photoreceptor cell.

ocuvi ; Pph13hazy double mutants lack rhabdomeres in the ocelli photoreceptor cells.

Xenogenetic Interactions
Statement
Reference
Complementation and Rescue Data
Comments

Expression of Pph13Scer\UAS.cMa under the control of Scer\GAL4chp.4.5 rescues the increase in photoreceptor number seen in Pph13hazy mutant larva.

Images (0)
Mutant
Wild-type
Stocks (0)
Notes on Origin
Discoverer

Selected as: A mutation that lacks the deep pseudopupil in adult eyes.

External Crossreferences and Linkouts ( 0 )
Synonyms and Secondary IDs (4)
References (9)