FB2024_03 , released June 25, 2024
Allele: Hsap\SMAD4100T.UAS
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General Information
Symbol
Hsap\SMAD4100T.UAS
Species
H. sapiens
Name
FlyBase ID
FBal0197455
Feature type
allele
Associated gene
Associated Insertion(s)
Carried in Construct
Key Links
Transgenic product class
Nature of the Allele
Transgenic product class
Progenitor genotype
Carried in construct
Cytology
Description

UASt regulatory sequences drive expression of a mutant Hsap\SMAD4 cDNA carrying a missense mutation (amino acid replacement R100T) in the MH1 domain. The cDNA was originally isolated in from a pancreas tumor.

Allele components
Component
Use(s)
Encoded product / tool
Mutations Mapped to the Genome
Curation Data
Type
Location
Additional Notes
References
Variant Molecular Consequences
Associated Sequence Data
DNA sequence
Protein sequence
 
Expression Data
Reporter Expression
Additional Information
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Marker for
Reflects expression of
Reporter construct used in assay
Human Disease Associations
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Disease
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Disease-implicated variant(s)
 
Phenotypic Data
Phenotypic Class
Phenotype Manifest In
Detailed Description
Statement
Reference

Expression of Hsap\MADH4100T.Scer\UAS strongly throughout the wing blade (e.g. under the control of Scer\GAL4Bx-MS1096, Scer\GAL4C-765 or Scer\GAL4T80) leads to ectopic mechanosensory bristles on the blade. These appear to be largely derived from the transformation of normally 'bristle-less' campaniform sensilla. The most frequent transformation observed is that of Twin Sensillum One into a mechanosensory bristle.

A mechanosensory bristle is sometimes observed on the ventral surface of the L3 wing vein in Hsap\MADH4100T.Scer\UAS/Scer\GAL4Bx-MS1096 mutant wings. The second most frequent transformation in Hsap\MADH4100T.Scer\UAS/Scer\GAL4Bx-MS1096 mutant wings is that of a thin mechanosensory bristle replacing either the proximal, middle, or distal sensillum, at roughly equal frequencies. The most posterior ectopic bristle is rare on a Hsap\MADH4100T.Scer\UAS/Scer\GAL4Bx-MS1096 mutant wing, and is located on the ventral surface of L5. Thus, five out of the six ectopic bristles on Hsap\MADH4100T.Scer\UAS/Scer\GAL4Bx-MS1096 wings are derived from the transformation of sensilla.

Hsap\MADH4100T.Scer\UAS/Scer\GAL4Bx-MS1096 mutants show dosage-dependent effects, with multiple copies of Hsap\MADH4100T.Scer\UAS exhibiting more severe phenotypes than those flies with a single copy. Single copy mutant wings exhibit a normal wing margin and around two sensilla-to-bristle transformations. Two-copy mutants exhibit a normal margin, sensilla-to-bristle transformation, and vein defects. Three-copy mutant wings exhibit a reduced size, a normal margin, sensilla-to-bristle transformation, and vein defects.

Expression of Hsap\MADH4100T.Scer\UAS under the control of Scer\GAL4en-e16E results in the transformation of patches of cells within the first denticle row into naked cuticle on one or more segments of most embryos.

External Data
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Phenotype Manifest In
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Mutant
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Synonyms and Secondary IDs (3)
Reported As
Symbol Synonym
Hsap\MADH4100T.Scer\UAS
Hsap\SMAD4100T.Scer\UAS
Hsap\SMAD4100T.UAS
Name Synonyms
Secondary FlyBase IDs
    References (1)