FB2024_03 , released June 25, 2024
Allele: Dmel\ptc559.1
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General Information
Symbol
Dmel\ptc559.1
Species
D. melanogaster
Name
FlyBase ID
FBal0138169
Feature type
allele
Associated gene
Associated Insertion(s)
Carried in Construct
Also Known As
ptc-GAL4, ptcGal4, patched-gal4, ptc.Gal4, PtcGal4, ptc559.1-Gal4, ptc::Gal4, P{GawB}559.1, 559.1, GAL4-ptc
Key Links
Nature of the Allele
Progenitor genotype
Associated Insertion(s)
Cytology
Description

The P{GawB} insertion is within the regulatory sequences of ptc.

Allele components
Component
Use(s)
Inserted element
Mutations Mapped to the Genome
Curation Data
Type
Location
Additional Notes
References
Variant Molecular Consequences
Associated Sequence Data
DNA sequence
Protein sequence
 
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
Modifiers Based on Experimental Evidence ( 1 )
Disease
Interaction
References
is ameliorated by smo1
Comments on Models/Modifiers Based on Experimental Evidence ( 0 )
 
Disease-implicated variant(s)
 
Phenotypic Data
Phenotypic Class
Phenotype Manifest In

head capsule & cuticle | ectopic (with ptc16)

head capsule & cuticle | ectopic (with ptc17)

head capsule & cuticle | ectopic (with ptc37)

head capsule & cuticle | ectopic (with ptc47)

Detailed Description
Statement
Reference

ptc559.1/Df(2R)Np3 transheterozygotes show lowly penetrant headcase defects, the affected individuals however show no loss of brain tissue, though the brain is located more to the interior.

ptc559.1/Df(2R)Np3 adults show progressively more severe locomotor defects with age and even lethality (in 15 and 30-day-old flies). The brains of individuals with severe locomotor defects contain lipid droplets slightly more frequently than wild-type and although the brain tissue does not show any lesions it is more fragile overall than controls.

Brains from ptc559.1/Df(2R)Np3 2-3 weeks old adults with severe locomotor defects show presence of lamellar inclusions and/or membranous material in neurons that are not present in either wild-type, young mutants or older mutant flies that do not display locomotor defects.

Cholesterol-rich diet ameliorates the locomotor defects observed in ptc559.1/Df(2R)Np3 in 5,9 and 14 days old adults.

ptc559.1/Df(2R)Np3 transheterozygotes show reduction in the density of synaptic terminals in the brain calyx of newly eclosed, 8 as well as 16-day-old flies compared to their wild-type counterparts.

Three weeks old ptc559.1/Df(2R)Np3 transheterozygotes displaying severe locomotor defects show overall decrease in the number of synaptic connections in the adult brain compared to wild-type controls, but this number is (similarly to wild-type) higher in individuals fed a cholesterol-rich diet.

ptc559.1/ptcS2 (as well as ptchdl/ptcS2) transheterozygous adults do not display any locomotor defects.

Most ptc alleles in trans to ptc559.1 do not cause head defects (ptc14 and ptcG12) or have relatively mild head defects. The most severe (ptc37 and ptc17) have mildly reduced eyes, slightly enlarged head vertex (ocellar triangle, fronto-orbital plate and frons) and low incidences of head cuticle outgrowths and ectopic or misplaced head bristles. The next most severely affected (ptc47, ptc16) are as above, apart from having a normal sized head vertex. Finally the most mildly affected have wild-type heads, apart from occasional missing or misplaced head bristles (ptcH84, ptctuf-1, ptc34, ptc15 and ptcS2). ptc13 falls into this category, but also has enlarged ocelli (not seen with other alleles). ptc9 also falls into this category, but along with ptc47 and ptc17 occasionally lacks one or both antennae.

No homozygotes show head capsule defects. 3% of ptchdl/ptc559.1 transheterozygotes show head capsule defects. 4% of ptcH84/ptc559.1 transheterozygotes show head capsule defects. 67% of Df(2R)Np3/ptc559.1 transheterozygotes show head capsule defects.

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

The locomotor defects and increased lethality as well as the decrease in density of synaptic terminals in adult brain calyx characteristic for aged ptc559.1/Df(2R)Np3 mutants can be partially suppressed by combination with smo1 in heterozygous state.

The addition of smo1 to ptcH84/ptc559.1 animals produces an enhancement of the head capsule defect phenotype. 35% of animals exhibit the phenotype, compared to 4%. The addition of baboQ302D.Scer\UAS (driven by Scer\GAL4ptc-559.1) suppresses the head phenotype seen in ptc559.1, Df(2R)Np3. None of these animals exhibit head capsule defects.

Xenogenetic Interactions
Statement
Reference
Complementation and Rescue Data
Images (0)
Mutant
Wild-type
Stocks (5)
Notes on Origin
Discoverer
External Crossreferences and Linkouts ( 0 )
Synonyms and Secondary IDs (4)
Reported As
Symbol Synonym
Name Synonyms
Secondary FlyBase IDs
    References (4)