FlyBase Allele Report: Dmel\Cyfip[85.1]

General Information

Symbol

Dmel\Cyfip^85.1

Species

D. melanogaster

Name

FlyBase ID

FBal0152179

Feature type

allele

Associated gene

Dmel\Cyfip

Associated Insertion(s)

Carried in Construct

Also Known As

CYFIP^Δ85.1

Key Links

Allele class

Mutagen

P-element activity

Nature of the Allele

Allele class

Mutagen

P-element activity

(Schenck et al., 2003)

Progenitor genotype

Cyfip^EP3267

(Schenck et al., 2003)

Cytology

Description

Mutations Mapped to the Genome

Curation Data

Type

Location

Additional Notes

References

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 ( 1 )

Disease

Evidence

References

model of chromosome 15q11.2 deletion syndrome

CEA

(Kanellopoulos et al., 2020, Woo et al., 2019)

Modifiers Based on Experimental Evidence ( 1 )

Disease

Interaction

References

model of chromosome 15q11.2 deletion syndrome

is ameliorated by Pink1^B9

(Kanellopoulos et al., 2020)

is ameliorated by Idh3a³

(Kanellopoulos et al., 2020)

Comments on Models/Modifiers Based on Experimental Evidence ( 1 )

The disease model uses Sra-1^85.1/+ heterozygous flies.

(Woo et al., 2019)

Disease-implicated variant(s)

Phenotypic Data

Phenotypic Class

Phenotype Manifest In

axon

(Schenck et al., 2004)

bouton

(Schenck et al., 2003)

cone cell | pharate adult stage (with Cyfip^EP3267)

(Galy et al., 2011)

cone cell | pupal stage (with Cyfip^EP3267)

(Galy et al., 2011)

embryonic/larval neuromuscular junction

(Qurashi et al., 2007)

eye | adult stage, with Cyfip^RNAi.UAS.cGa, Scer\GAL4^lz-gal4

(Galy et al., 2011)

eye | adult stage | somatic clone

(Galy et al., 2011)

eye | pharate adult stage (with Cyfip^EP3267)

(Galy et al., 2011)

interommatidial bristle | pharate adult stage (with Cyfip^EP3267)

(Galy et al., 2011)

interommatidial bristle | pharate adult stage | somatic clone

(Galy et al., 2011)

larval intersegmental nerve

(Schenck et al., 2004, Schenck et al., 2003)

larval longitudinal connective

(Schenck et al., 2003)

lens | pharate adult stage (with Cyfip^EP3267)

(Galy et al., 2011)

lens | pharate adult stage | somatic clone

(Galy et al., 2011)

neuromuscular junction & synapse

(Schenck et al., 2004)

ommatidium | pharate adult stage (with Cyfip^EP3267)

(Galy et al., 2011)

ommatidium | pharate adult stage | somatic clone

(Galy et al., 2011)

photoreceptor | adult stage, with Cyfip^RNAi.UAS.cGa, Scer\GAL4^lz-gal4

(Galy et al., 2011)

photoreceptor | adult stage | somatic clone

(Galy et al., 2011)

photoreceptor | pupal stage (with Cyfip^EP3267)

(Galy et al., 2011)

presumptive embryonic/larval central nervous system | germline clone

(Schenck et al., 2003)

retina | pharate adult stage (with Cyfip^EP3267)

(Galy et al., 2011)

retina | pharate adult stage | somatic clone

(Galy et al., 2011)

rhabdomere | adult stage | somatic clone

(Galy et al., 2011)

rhabdomere | pharate adult stage (with Cyfip^EP3267)

(Galy et al., 2011)

rhabdomere | pupal stage (with Cyfip^EP3267)

(Galy et al., 2011)

symmetrical commissure

(Schenck et al., 2003)

synapse

(Schenck et al., 2003)

Detailed Description

Statement

Reference

Sra-1^EP3267/Sra-1^85.1 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-1^EP3267/Sra-1^85.1 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-1^EP3267/Sra-1^85.1 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-1^85.1 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.

(Galy et al., 2011)

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

(Qurashi et al., 2007)

Mutant embryos show axon defects, including ectopic crossing of the midline by axons and ectopic branching of the intersegmental nerve. Sra-1^85.1 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).

(Schenck et al., 2004)

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.

(Schenck et al., 2003)

External Data

Linkouts

Interactions

Show genetic interaction network for Enhancers & Suppressors

Phenotypic Class

Enhancer of

Statement

Reference

Cyfip^85.1 is an enhancer of abnormal neuroanatomy | embryonic stage phenotype of Scer\GAL4^eg.PU, fra^{ΔC.UAS.Tag:HA}

(Chaudhari et al., 2024)

Cyfip^85.1/Cyfip^85.1 is an enhancer of abnormal neuroanatomy | embryonic stage phenotype of fra⁶/fra⁴

(Chaudhari et al., 2024)

Suppressor of

Statement

Reference

Sra-1[+]/Cyfip^85.1 is a suppressor of abnormal neuroanatomy | dominant phenotype of Fmr1^unspecified

(Schenck et al., 2004)

Other

Statement

Reference

Cyfip^85.1, fra³/fra⁴ has abnormal neuroanatomy | embryonic stage phenotype

(Chaudhari et al., 2024)

Cyfip^85.1, fra³/fra⁴ has lethal - all die during embryonic stage phenotype

(Chaudhari et al., 2024)

Phenotype Manifest In

Enhancer of

Statement

Reference

Cyfip^85.1 is an enhancer of larval EW neuron | embryonic stage phenotype of Scer\GAL4^eg.PU, fra^{ΔC.UAS.Tag:HA}

(Chaudhari et al., 2024)

Cyfip^85.1 is an enhancer of commissure | embryonic stage phenotype of Scer\GAL4^eg.PU, fra^{ΔC.UAS.Tag:HA}

(Chaudhari et al., 2024)

Cyfip^85.1/Cyfip^85.1 is an enhancer of larval EW neuron | embryonic stage phenotype of fra⁶/fra⁴

(Chaudhari et al., 2024)

Cyfip^85.1/Cyfip^85.1 is an enhancer of commissure | embryonic stage phenotype of fra⁶/fra⁴

(Chaudhari et al., 2024)

Cyfip^85.1/Cyfip^85.1 is an enhancer of connective | embryonic stage phenotype of fra⁶/fra⁴

(Chaudhari et al., 2024)

Suppressor of

Statement

Reference

Sra-1[+]/Cyfip^85.1 is a suppressor of neuromuscular junction & synapse phenotype of Fmr1^unspecified

(Schenck et al., 2004)

Additional Comments

Genetic Interactions

Statement

Reference

The overgrown synapse phenotype seen at the neuromuscular junction of Fmr1^unspecified/+ larvae is suppressed by one copy of Sra-1^85.1.

(Schenck et al., 2004)

Xenogenetic Interactions

Statement

Reference

Complementation and Rescue Data

Rescued by

Cyfip^85.1 is rescued by Scer\GAL4^elav-C155/Cyfip^UAS.cSa

(Schenck et al., 2004)

Cyfip^85.1 is rescued by Scer\GAL4^elav-C155/Cyfip^UAS.cSa

(Schenck et al., 2003)

Comments

Expression of Sra-1^EP3267 under the control of Scer\GAL4^GMR.PF fully rescues the eye morphology defects seen in Sra-1^EP3267/Sra-1^85.1 mutant pharate adults. The lethality associated with Sra-1^EP3267/Sra-1^85.1 is not rescued.

Expression of Sra-1^EP3267 under the control of Scer\GAL4^lz-gal4 fully rescues the retinal fenestrated membrane integrity defects seen in Sra-1^EP3267/Sra-1^85.1 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.

(Galy et al., 2011)

Images (0)

Mutant

Wild-type

Stocks (0)

Notes on Origin

Discoverer

External Crossreferences and Linkouts ( 0 )

Synonyms and Secondary IDs (5)

Reported As

Symbol Synonym

CYFIP^85.1

(Galy et al., 2011, Schenck et al., 2003)

CYFIP^Δ85.1

(Galy et al., 2011, Qurashi et al., 2007, Schenck et al., 2004)

Cyfip^85.1

(Mariano et al., 2023, Kanellopoulos et al., 2020, Woo et al., 2019)

Sra-1^85.1

cyfip^Δ85.1

(Chaudhari et al., 2024, Chaudhari et al., 2021)

Name Synonyms

Secondary FlyBase IDs

References (9)

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