FB2024_03 , released June 25, 2024
Allele: Dmel\Sdc48
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General Information
Symbol
Dmel\Sdc48
Species
D. melanogaster
Name
FlyBase ID
FBal0159765
Feature type
allele
Associated gene
Associated Insertion(s)
Carried in Construct
Key Links
Allele class
Nature of the Allele
Allele class
Progenitor genotype
Caused by aberration
Cytology
Description

Imprecise excision resulting in a deletion which removes the first two exons of Sdc, including the promoter and 5' untranslated region, the translation start codon and the signal sequence.

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 ( 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

Sdc10608/Df(2R)48 larvae (carrying SaraUbi.PJ to provide Sara function) show a significant reduction in bouton number at the neuromuscular junction compared to wild type. Mean active zone area and number of active zones per bouton are normal.

Lar5.5/+ enhances the reduction in bouton number at the neuromuscular junction which is seen in SdcKG06163/Df(2R)48 larvae (carrying SaraUbi.PJ to provide Sara function).

Around 8% of Sdc48 mutants (in which Sara has been rescued by expression of the SaraUbi.PJ transgene) show an ISNb bypass phenotype.

Half of Df(2R)48/Sdc10608 larvae (in which Sara function has been rescued by SaraUbi.PJ) show photoreceptor projection and lamina-plexus defects. At the pupal level, these mutants show crossover of R7 axons between medullary cartridges and defective axon pathfinding to the medulla, with a low penetrance of R7/R8 terminal disruption. Electrophysiological analysis shows that as adults, these mutants have grossly abnormal ERGs, with defective photoreceptor polarization and complete absence of on- and off-transients.

Df(2R)48/Sdc10608 mutants (in which Sara function has been rescued by SaraUbi.PJ) have no rough eye phenotype and show no defects in the specification of photoreceptors, glia or lamina neurons.

Df(2R)48 embryos (in which Sara function has been rescued by SaraUbi.PJ) show a high frequency of axons crossing the midline in the central nervous system.

External Data
Interactions
Show genetic interaction network for Enhancers & Suppressors
Phenotypic Class
Phenotype Manifest In
Enhanced by
Statement
Reference
Suppressed by
NOT suppressed by
Enhancer of
Statement
Reference

Sdc48/Sdc10608 is an enhancer of anterior fascicle & axon | ectopic phenotype of Lar5.5/Lar13.2

Sdc48 is an enhancer of anterior fascicle & axon | ectopic phenotype of Larbypass

Suppressor of
Statement
Reference

Sdc48/Sdc[+] is a suppressor of wing sensillum phenotype of Hsepid12

Additional Comments
Genetic Interactions
Statement
Reference

A heterozygous Sdc48 background does not result in a decreased number of chemosensory bristles in a Hsepid12 homozygous mutants.

Sdc48 (in which Sara has been rescued by expression of the SaraUbi.PJ transgene) increases the penetrance of the Larbypass ISNb bypass phenotype by more than 2-fold. Sdc48/Sdc10608; Lar13.2/Lar5.5 (in which Sara has been rescued by expression of the SaraUbi.PJ transgene) mutants display an increased penetrance of the bypass phenotype (43% vs. 28%) relative to the corresponding Lar13.2/Lar5.5 transheterozygote.

Expression of dlpScer\UAS.T:Ivir\HA1, under the control of Scer\GAL4elav-C155, rescues the medulla patterning defects of Sdc10608/Df(2R)48 mutants (in which Sara function has been rescued by SaraUbi.PJ). However, this expression fails to rescue the ERG defects.

Expression of dlpScer\UAS.cBa under the control of Scer\GAL4sli.PS fails to rescue the axon midline crossing phenotype seen in Df(2R)48 embryos in which Sara function has been rescued by SaraUbi.PJ. Expression of dlpScer\UAS.cBa under the control of Scer\GAL4elav.PLu significantly rescues the axon midline crossing phenotype seen in Df(2R)48 embryos in which Sara function has been rescued by SaraUbi.PJ.

Xenogenetic Interactions
Statement
Reference
Complementation and Rescue Data
Partially rescued by
Not rescued by
Comments

Expression of SdcScer\UAS.cJa under the control of Scer\GAL4elav.PU almost completely rescues the reduction in bouton number at the neuromuscular junction which is seen in Sdc10608/Df(2R)48 larvae (carrying SaraUbi.PJ to provide Sara function).

Expression of SdcScer\UAS.cSa, under the control of Scer\GAL4elav-C155, rescues the medulla cartridge crossover and R7/R8 termini disruption pupal phenotypes of Df(2R)48/Sdc10608 mutants (in which Sara function has been rescued by SaraUbi.PJ). However, this expression fails to rescue photoreceptor projection defects to the larval lamina or ERG abnormalities in adults.

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Mutant
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Stocks (0)
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External Crossreferences and Linkouts ( 0 )
Synonyms and Secondary IDs (2)
Reported As
Symbol Synonym
Name Synonyms
Secondary FlyBase IDs
    References (9)