FB2025_04 , released October 2, 2025
Allele: Dmel\Sap-r2.2
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General Information
Symbol
Dmel\Sap-r2.2
Species
D. melanogaster
Name
FlyBase ID
FBal0327346
Feature type
allele
Associated gene
Dmel\Sap-r
Associated Insertion(s)
Carried in Construct
Key Links
Allele class

amorphic allele - molecular evidence

Mutagen
Nature of the Allele
Allele class

amorphic allele - molecular evidence

(Sellin et al., 2017)
Mutagen
FLPase
(Sellin et al., 2017)
Progenitor genotype
PBac{RB}Sap-re01294
(Sellin et al., 2017)
P{XP}Sap-rd00389
(Sellin et al., 2017)
Cytology
Description

Scer\FLP1-mediated recombination between the progenitor insertions P{XP}Sap-rd00389 and PBac{RB}Sap-re01294 results in deletion of the first 3 exons of Sap-r, including the start codon and putative alternative start codon.

(Sellin et al., 2017)
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  combined saposin deficiency
      CEC
      (Sellin et al., 2017)
      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

      Sap-r2.2 homozygotes and Sap-r2.2/Df(3R)Exel8194 transheterozygotes are partially lethal during larval and pupal stages and surviving adults exhibit significant and progressive locomotion defects in negative geotaxis assays, as compared to controls.

      Sap-r2.2 homozygotes and Sap-r2.2/Df(3R)Exel8194 transheterozygotes exhibit progressive lysosomes/autophagosomes/endosomes defects: the homozygotes display increases in the number and size of lysosomes/autophagosomes/endosomes in both larval (brain, trachea and fat body) and adult tissues (brain, heart and posterior midgut), as compared to controls, and non degraded mitochondria are frequently detected inside their larval fat body autophagosomes; the transheterozygotes also display increases in the number and size of lysosomes/autophagosomes/endosomes in the adult brain, as compared to controls.

      Sap-r2.2 homozygous and Sap-r2.2/Df(3R)Exel8194 transheterozygous adults exhibit progressive brain defects: both the homozygotes and transheterozygotes exhibit significant and progressive increase in cell death in the optic lobe, as compared to controls; the transheterozygotes exhibit swollen and spongy-looking neuronal somata and tissue holes at day 6 post eclosion, and additional lesions on the neuropil and retina regions at day 30 post eclosion, as compared to controls.

      (Sellin et al., 2017)
      External Data
      Interactions
      Show genetic interaction network for Enhancers & Suppressors
      Phenotypic Class
      Phenotype Manifest In
      Additional Comments
      Genetic Interactions
      Statement
      Reference
      Xenogenetic Interactions
      Statement
      Reference
      Complementation and Rescue Data
      Partially rescued by

      Sap-r2.2 is partially rescued by Sap-rUAS.cSa/Scer\GAL4Act.PU

      (Sellin et al., 2017)
      Comments

      The increase in lysosomes observed in the larval fat body of Sap-r2.2 homozygotes is cell autonomously suppressed by the clonal expression of Sap-rScer\UAS.cSa under the control of Scer\GAL4Act.PU.

      (Sellin et al., 2017)
      Images (0)
      Mutant
      Wild-type
      Stocks (0)
      Notes on Origin
      Discoverer
      External Crossreferences and Linkouts ( 0 )
      Synonyms and Secondary IDs (1)
      Reported As
      Symbol Synonym
      Sap-r2.2
      (Sellin et al., 2017)
      Name Synonyms
      Secondary FlyBase IDs
        References (1)