FlyBase Allele Report: Dmel\Pph13[hazy]

General Information

Symbol

Dmel\Pph13^hazy

Species

D. melanogaster

Name

FlyBase ID

FBal0218119

Feature type

allele

Associated gene

Dmel\Pph13

Associated Insertion(s)

Carried in Construct

Key Links

Genomic Maps

JBrowse

Allele class

Mutagen

ethyl methanesulfonate

Nature of the Allele

Allele class

Mutagen

ethyl methanesulfonate

(Zelhof et al., 2003)

Progenitor genotype

Cytology

Description

Amino acid replacement: W58term.

(Zelhof et al., 2003)

Mutations Mapped to the Genome

Curation Data

Type

Location

Additional Notes

References

point_mutation

2L:578,283..578,283 [+]

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.

(Zelhof et al., 2003)

Variant Molecular Consequences

Associated Sequence Data

DDBJ / EMBL / GenBank

DNA sequence

Protein sequence

UniProtKB/Swiss-Prot

UniProtKB/TrEMBL

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

abnormal neurophysiology

(Zelhof et al., 2003)

abnormal phototaxis | adult stage | progressive

(Bernardo-Garcia et al., 2017)

viable

(Zelhof et al., 2003)

visible

(Zelhof et al., 2003)

Phenotype Manifest In

retina

(Zelhof et al., 2003)

Rh6 photoreceptor of Bolwig organ | ectopic

(Mishra et al., 2013)

rhabdomere

(Zelhof et al., 2003)

rhabdomere of eye photoreceptor cell

(Mishra et al., 2010)

subrhabdomeral cisterna

(Zelhof et al., 2003)

Detailed Description

Statement

Reference

Pph13^hazy 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.

(Bernardo-Garcia et al., 2017)

The photoreceptors in Pph13^hazy 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.

(Mishra et al., 2013)

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.

(Mishra et al., 2010)

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.

(Zelhof et al., 2003)

External Data

Linkouts

Interactions

Show genetic interaction network for Enhancers & Suppressors

Phenotypic Class

Phenotype Manifest In

Enhanced by

Statement

Reference

Pph13^hazy has rhabdomere of eye photoreceptor cell phenotype, enhanceable by oc^uvi

(Mishra et al., 2010)

Enhancer of

Statement

Reference

Pph13^hazy is an enhancer of rhabdomere of eye photoreceptor cell phenotype of oc^uvi

(Mishra et al., 2010)

Other

Statement

Reference

Pph13^hazy, oc^uvi has eye photoreceptor cell phenotype

(Mishra et al., 2010)

Pph13^hazy, oc^uvi has ocellus rhabdomere phenotype

(Mishra et al., 2010)

Additional Comments

Genetic Interactions

Statement

Reference

Newly eclosed oc^uvi ; Pph13^hazy 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 oc^uvi ; Pph13^hazy 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.

oc^uvi ; Pph13^hazy double mutants lack rhabdomeres in the ocelli photoreceptor cells.

(Mishra et al., 2010)

Xenogenetic Interactions

Statement

Reference

Complementation and Rescue Data

Rescued by

Pph13^hazy is rescued by Scer\GAL4^chp.4.5/Pph13^UAS.cMa

(Mishra et al., 2013)

Pph13^hazy is rescued by Pph13^hs.PZ

(Zelhof et al., 2003)

Comments

Expression of Pph13^Scer\UAS.cMa under the control of Scer\GAL4^chp.4.5 rescues the increase in photoreceptor number seen in Pph13^hazy mutant larva.

(Mishra et al., 2013)

Images (0)

Mutant

Wild-type

Stocks (0)

Notes on Origin

Discoverer

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

(Zelhof et al., 2003)

External Crossreferences and Linkouts ( 0 )

Synonyms and Secondary IDs (4)

Reported As

Symbol Synonym

Pph13^hazy

(Zelhof et al., 2020, Mishra et al., 2016, Mishra et al., 2013, Mishra et al., 2010, Zelhof et al., 2003)

Pph13^hzy

(Mahato et al., 2014)

hazy^hazy

(Bernardo-Garcia et al., 2017)

pph13^hazy

(Jukam et al., 2013, Jukam et al., 2013)

Name Synonyms

Secondary FlyBase IDs

References (10)

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