FB2025_01 , released February 20, 2025
Allele: Hsap\CDH1A634V.UAS
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General Information
Symbol
Hsap\CDH1A634V.UAS
Species
H. sapiens
Name
FlyBase ID
FBal0279482
Feature type
allele
Associated gene
Hsap\CDH1
Associated Insertion(s)
Carried in Construct
P{UAS-hEcad.A634V}
Key Links
Transgenic product class
missense_variant
(Pereira et al., 2006)
Mutagen
Nature of the Allele
Transgenic product class
missense_variant
(Pereira et al., 2006)
Mutagen
in vitro construct
(Pereira et al., 2006)
Progenitor genotype
Carried in construct
P{UAS-hEcad.A634V}
Cytology
Description

UASt regulatory sequences drive expression of a mutated form of Hsap\CDH1 containing the amino acid replacement A634V.

(Pereira et al., 2006)
Allele components
Component
Use(s)
Regulatory region(s)
UASt
Encoded product / tool
Hsap\CDH1
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  stomach cancer
      CEA
      (Pereira et al., 2006)
      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.
      (Pereira et al., 2006)
      CDH1:p.Ala634Val
      (FlyBase curators, 2019-)
      Variants Synonym(s)
      CDH1:p.Ala118Val
      CDH1:p.Ala573Val
      Associated human disease model(s)
      External database links
      ClinVar: CDH1_12244
      Comments concerning this variant
      Phenotypic Data
      Phenotypic Class
      Phenotype Manifest In
      Detailed Description
      Statement
      Reference

      Cells expressing Hsap\CDH1A634V.Scer\UAS under the control of Scer\GAL4Bx-MS1096 in the pouch region of the wing disc invade neighbouring epithelial tissue. The cells appear to invade as a group.

      Cells expressing Hsap\CDH1A634V.Scer\UAS under the control of Scer\GAL4bi.PU do not remain as a compact domain, but separate into several groups of cells. The epithelium remains monolayered in these discs.

      Expression of Hsap\CDH1A634V.Scer\UAS under the control of Scer\GAL4bi.PU results in a severe reduction of the wing.

      (Pereira et al., 2006)
      External Data
      Interactions
      Show genetic interaction network for Enhancers & Suppressors
      Phenotypic Class
      Suppressed by
      Phenotype Manifest In
      Suppressed by
      Additional Comments
      Genetic Interactions
      Statement
      Reference
      Xenogenetic Interactions
      Statement
      Reference

      The wing defects caused by expression of Hsap\CDH1A634V.Scer\UAS under the control of Scer\GAL4bi.PU are partially suppressed by co-expression of armS10.Scer\UAS.T:Hsap\MYC.

      (Pereira et al., 2006)
      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\CDH1A634V.Scer\UAS
      Hsap\CDH1A634V.UAS
      hEcadA634V
      (Pereira et al., 2006)
      Name Synonyms
      Secondary FlyBase IDs
        References (2)