FB2026_01 , released March 12, 2026
FB2026_01 , released March 12, 2026
Allele: Dmel\SmnT205I.Tag:FLAG
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General Information
Symbol
Dmel\SmnT205I.Tag:FLAG
Species
D. melanogaster
Name
FlyBase ID
FBal0277064
Feature type
allele
Associated gene
Dmel\Smn
Associated Insertion(s)
Carried in Construct
M{Smn.T205I.FLAG}
Also Known As
T205I
Key Links
Genomic Maps

Transgenic product class
missense_variant
(Praveen et al., 2012)
Mutagen
Nature of the Allele
Transgenic product class
missense_variant
(Praveen et al., 2012)
Mutagen
in vitro construct
(Praveen et al., 2012)
Progenitor genotype
Carried in construct
M{Smn.T205I.FLAG}
Cytology
Description

A ~3kb fragment containing the entire Smn coding region is tagged with Tag:FLAG. The threonine at amino acid 205 has been replaced with isoleucine.

(Praveen et al., 2012)
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:16,580,568..16,580,569 [-]
Reported amino acid change:

T205I

Comment:

Analagous mutation in human SMN1 implicated in spinal muscular atrophy, types II and 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., 2012)
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., 2012)
      SMN1:p.Thr274Ile
      (FlyBase curators, 2019-)
      Variants Synonym(s)
      SMN1:p.Thr242Ile
      Associated human disease model(s)
      External database links
      ClinVar: SMN1_9164
      Comments concerning this variant
      Phenotypic 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

      SmnT205I.Tag:FLAG partially rescues SmnX7

      (Gupta et al., 2021)

      SmnY203C.Tag:FLAG/SmnT205I.Tag:FLAG partially rescues SmnX7

      (Praveen et al., 2014)

      SmnT205I.Tag:FLAG partially rescues SmnX7

      (Praveen et al., 2014)

      SmnT205I.Tag:FLAG partially rescues SmnX7/Smnf01109

      (Praveen et al., 2012)
      Comments

      Expression of one copy of SmnT205I.T:Zzzz\FLAG partially rescues the larval lethality seen in homozygous SmnX7 mutants.

      Co-expression of one copy each of SmnY203C.T:Zzzz\FLAG and SmnT205I.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. No adults eclose but many animals reach the pupal stage.

      (Praveen et al., 2014)

      Expression of SmnT205I.T:Zzzz\FLAG fully rescues the larval lethality seen in Smnf01109/SmnX7 mutants. However lethality in these mutants occurs at the pupal stage, with only 25% of mutants eclosing as adults. Pupation and eclosion occurs a day later than in wild type controls. Expression of SmnT:Zzzz\FLAG also largely rescues the motility defects seen in Smnf01109/SmnX7 mutant larvae, whereas the burrowing defects are fully rescued.

      (Praveen et al., 2012)
      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
      SmnT205I.T:Zzzz\FLAG
      SmnT205I.Tag:FLAG
      Name Synonyms
      Secondary FlyBase IDs
        References (8)