FB2026_01 , released March 12, 2026
FB2026_01 , released March 12, 2026
Allele: Dmel\SmnD20V.Tag:FLAG
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General Information
Symbol
Dmel\SmnD20V.Tag:FLAG
Species
D. melanogaster
Name
FlyBase ID
FBal0299576
Feature type
allele
Associated gene
Dmel\Smn
Associated Insertion(s)
Carried in Construct
M{Smn.D20V.FLAG}
Also Known As
D20V
Key Links
Genomic Maps

Transgenic product class
missense_variant
(Praveen et al., 2014)
Mutagen
Nature of the Allele
Transgenic product class
missense_variant
(Praveen et al., 2014)
Mutagen
in vitro construct
(Praveen et al., 2014)
Progenitor genotype
SmnTag:FLAG
(Praveen et al., 2014)
Carried in construct
M{Smn.D20V.FLAG}
Cytology
Description

A ~3kb fragment containing the entire Smn coding region is tagged with Tag:FLAG. The aspartic acid at amino acid 20 has been replaced with valine.

(Praveen et al., 2014)
Allele components
Component
Use(s)
Regulatory region(s)
Smn
Encoded product / tool
Smn
Tagged with
Tag:FLAG
Mutations Mapped to the Genome
Curation Data
Type
Location
Additional Notes
References
point_mutation
3L:16,581,124..16,581,124 [-]
Nucleotide change:

A16581124T

Amino acid change:

D20V | Smn-PA; D20V | Smn-PB

Reported amino acid change:

D20V

Comment:

Analogous mutation in human SMN1 implicated in spinal muscular atrophy, type III; mutation carried on in vitro construct; site of nucleotide substitution in fly gene inferred by FlyBase curator based on reported amino acid change.

(Praveen 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 )
      Modifiers Based on Experimental Evidence ( 0 )
      Disease
      Interaction
      References
      Comments on Models/Modifiers Based on Experimental Evidence ( 0 )
       
      Disease-implicated variant(s)
       
      This allele represents a human variant implicated in disease.
      (Praveen et al., 2014)
      SMN1:p.Asp44Val
      (FlyBase curators, 2019-)
      Variants Synonym(s)
      Associated human disease model(s)
      External database links
      ClinVar: SMN1_9172
      Comments concerning this variant
      Phenotypic Data
      Phenotypic Class
      Phenotype Manifest In
      Detailed Description
      Statement
      Reference
      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 rescues

      SmnD20V.Tag:FLAG partially rescues SmnX7

      (Praveen et al., 2014)

      SmnY203C.Tag:FLAG/SmnD20V.Tag:FLAG partially rescues SmnX7

      (Praveen et al., 2014)

      SmnD20V.Tag:FLAG/SmnG210V.Tag:FLAG partially rescues SmnX7

      (Praveen et al., 2014)
      Comments

      Expression of one copy of SmnD20V.T:Zzzz\FLAG partially rescues the larval lethality seen in homozygous SmnX7 mutants.

      Co-expression of one copy each of SmnG210V.T:Zzzz\FLAG and SmnD20V.T:Zzzz\FLAG partially rescues the larval lethality seen in homozygous SmnX7 mutants, but results in more severe phenotype than when SmnD20V.T:Zzzz\FLAG is expressed alone. A few adults eclose but most animals reach the pupal stage.

      Co-expression of one copy each of SmnY203C.T:Zzzz\FLAG and SmnD20V.T:Zzzz\FLAG partially rescues the larval lethality seen in homozygous SmnX7 mutants. The phenotype is intermediate between expressing one copy each of either transgene, indicating that SmnY203C.T:Zzzz\FLAG is having a dominant effect. A few adults eclose but most animals reach the pupal stage.

      (Praveen et al., 2014)
      Images (0)
      Mutant
      Wild-type
      Stocks (0)
      Notes on Origin
      Discoverer
      External Crossreferences and Linkouts ( 0 )
      Synonyms and Secondary IDs (2)
      Reported As
      Symbol Synonym
      SmnD20V.T:Zzzz\FLAG
      SmnD20V.Tag:FLAG
      Name Synonyms
      Secondary FlyBase IDs
        References (5)