FB2025_01 , released February 20, 2025
Allele: Hsap\SMN1UAS.cMa
Open Close
General Information
Symbol
Hsap\SMN1UAS.cMa
Species
H. sapiens
Name
Saccharomyces cerevisiae UAS construct a of Miguel-Aliaga
FlyBase ID
FBal0120807
Feature type
allele
Associated gene
Hsap\SMN1
Associated Insertion(s)
Carried in Construct
P{UAS-Hsap\SMN1.M}
Key Links
Transgenic product class
wild_type
(Miguel-Aliaga et al., 2000)
Mutagen
Nature of the Allele
Transgenic product class
wild_type
(Miguel-Aliaga et al., 2000)
Mutagen
in vitro construct
(Miguel-Aliaga et al., 2000)
Progenitor genotype
Carried in construct
P{UAS-Hsap\SMN1.M}
Cytology
Description

UASt regulatory sequences drive expression of the Hsap\SMN1 coding sequence.

(Miguel-Aliaga et al., 2000)
Allele components
Component
Use(s)
Regulatory region(s)
UASt
Encoded product / tool
Hsap\SMN1
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  childhood spinal muscular atrophy
      CEA
      (Farrugia et al., 2022)
      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

      Flies expressing Hsap\SMN1Scer\UAS.cMa under the control of Scer\GAL4Mef2.PR are viable at 25[o]C, but lethal at 29[o]C. Viable flies exhibit an age-dependent reduction in climbing ability compared to controls.

      Pupae expressing Hsap\SMN1Scer\UAS.cMa under the control of either Scer\GAL4how-24B or Scer\GAL4da.PU have increased axial ratios.

      (Borg and Cauchi, 2013)

      Overexpression of Hsap\SMN1Scer\UAS.cMa under the control of Scer\GAL4how-24B results in pupal lethality; pupae develop until a relatively late stage, but fail to eclose. A variety of morphogenetic and differentiation defects can be seen; wings and legs are abnormally positioned towards the anterior end of the pupa and morphogenetic defects are seen in the head, legs and wings. A necrotic ring terminates posterior development. In some lines, a few flies escape lethality. The tarsi of the second and third pair of legs are abnormal in these escapers.

      (Miguel-Aliaga et al., 2000)
      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
      Comments
      Images (0)
      Mutant
      Wild-type
      Stocks (0)
      Notes on Origin
      Discoverer
      External Crossreferences and Linkouts ( 0 )
      Synonyms and Secondary IDs (3)
      Reported As
      Symbol Synonym
      Hsap\SMN1Scer\UAS.cMa
      Hsap\SMN1UAS.cMa
      Name Synonyms
      Saccharomyces cerevisiae UAS construct a of Miguel-Aliaga
      (Miguel-Aliaga et al., 2000)
      Secondary FlyBase IDs
        References (3)