FB2025_01 , released February 20, 2025
Allele: Dmel\Snap29B6-21
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General Information
Symbol
Dmel\Snap29B6-21
Species
D. melanogaster
Name
FlyBase ID
FBal0297457
Feature type
allele
Associated gene
Dmel\Snap29
Associated Insertion(s)
Carried in Construct
Key Links
Genomic Maps

Allele class

amorphic allele - genetic evidence

Mutagen
Nature of the Allele
Allele class

amorphic allele - genetic evidence

(Morelli et al., 2014)
Mutagen
ethyl methanesulfonate
(Vaccari, 2014.8.4, Vaccari et al., 2009)
Progenitor genotype
Cytology
Description

Nonsense mutation which is predicted to truncate the protein between the two SNARE domains.

(Morelli et al., 2014)

Nucleotide substitution: C?T.

(Morelli et al., 2014)

Amino acid replacement: Q169term.

(Morelli et al., 2014)
Mutations Mapped to the Genome
Curation Data
Type
Location
Additional Notes
References
point_mutation
2R:23,844,073..23,844,073 [-]
Nucleotide change:

C23844073T

Reported nucleotide change:

C?T

Amino acid change:

Q169term | Snap29-PA

Reported amino acid change:

Q169term

(Morelli et al., 2014)
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  CEDNIK syndrome
      CEA
      (Morelli et al., 2014)
      Modifiers Based on Experimental Evidence ( 1 )
      Comments on Models/Modifiers Based on Experimental Evidence ( 0 )
       
      Disease-implicated variant(s)
       
      Phenotypic Data
      Phenotypic Class
      Phenotype Manifest In
      Detailed Description
      Statement
      Reference

      Third larval instar mosaic eye-antennal discs show defects in epithelial morphology. Ultrastructurally the cells show a striking intracellular accumulation of double-membrane vesicular organelles, which mostly appear (by marker analysis) to be autophagosomes. They contain a wide array of intact cellular structures, such as mitochondria, endoplasmic reticulum, lysosomes or vesicles, indicating that degradation does not occur in these structures. Rarely, amphisomes are seen, and in this case, their contents show signs of degeneration. The mutant cells also show a prominent apical extracellular accumulation of large vesicles which are bound by a single membrane. These can also contain undigested cellular structures, and they are often found juxtaposed to the apical membrane or in a state of fusion with it, suggesting that they might represent exocytosed autophagic structures. The mutant cells show a disorganisation of the Golgi cisternae compared to wild type: the cisternae are highly perforated, their number is decrease and their size is highly variable.

      (Morelli et al., 2014)
      External Data
      Interactions
      Show genetic interaction network for Enhancers & Suppressors
      Phenotypic Class
      Suppressed by
      Statement
      Reference

      Snap29B6-21 has lethal | somatic clone phenotype, suppressible by Socs36EUASp.cCa/Scer\GAL4ey.PU

      (Morelli et al., 2014)
      Other
      Phenotype Manifest In
      Additional Comments
      Genetic Interactions
      Statement
      Reference

      Expression of Socs36EScer\UAS.P\T.cCa under the control of Scer\GAL4ey.PU rescues the lethality of animals carrying Scer\GAL4ey.PU mutant eye discs. The rescued adults have very reduced eyes.

      (Morelli et al., 2014)
      Xenogenetic Interactions
      Statement
      Reference
      Complementation and Rescue Data
      Rescued by

      Snap29B6-21 is rescued by Snap29UAS.CFP/Scer\GAL4Tub.PU

      (Morelli et al., 2014)

      Snap29B6-21 is rescued by Snap29UAS.CFP/Scer\GAL4ey.PU

      (Morelli et al., 2014)
      Partially rescued by

      Snap29B6-21 is partially rescued by Snap29AAA.UAS/Scer\GAL4ey.PU

      (Morelli et al., 2014)
      Comments

      Expression of Snap29Scer\UAS.T:Avic\GFP-CFP under the control of Scer\GAL4tub.PU fully rescues Snap2936-21 homozygotes to adulthood.

      Expression of Snap29Scer\UAS.T:Avic\GFP-CFP under the control of Scer\GAL4ey.PU rescues the lethality of Snap2936-21 homozygotes and leads to adults with morphologically normal eyes.

      Expression of Snap29Scer\UAS.T:Avic\GFP-CFP under the control of Scer\GAL4ey.PU rescues the lethality of Snap2936-21 homozygotes and leads to escaper adults with eye defects.

      (Morelli et al., 2014)
      Images (0)
      Mutant
      Wild-type
      Stocks (1)
      Notes on Origin
      Discoverer
      External Crossreferences and Linkouts ( 0 )
      Synonyms and Secondary IDs (6)
      Reported As
      Symbol Synonym
      B6
      (Vaccari et al., 2009)
      MENE (2R)-E B6-21
      (Morelli et al., 2014)
      MENE(2R)-EB6
      (Vaccari, 2014.8.4)
      Snap2936-21
      Snap29B6-21
      (Chang et al., 2024, Cunningham et al., 2020, Morelli et al., 2016, Vaccari, 2014.8.4)
      Snap29B6
      (Morelli et al., 2014)
      Name Synonyms
      Secondary FlyBase IDs
        References (6)