FB2024_03 , released June 25, 2024
Allele: Hsap\KMT2A::HsapAFF1UAS.cMa
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General Information
Symbol
Hsap\KMT2A::Hsap\AFF1UAS.cMa
Species
H. sapiens
Name
Saccharomyces cerevisiae UAS construct a of Muyrers-Chen
FlyBase ID
FBal0269993
Feature type
allele
Associated gene
Hsap\KMT2A::Hsap\AFF1
Associated Insertion(s)
Carried in Construct
P{UAS-KMT2A-AFF1}
Key Links
Transgenic product class
Mutagen
Nature of the Allele
Transgenic product class
Mutagen
in vitro construct
(Muyrers-Chen et al., 2004)
Progenitor genotype
Carried in construct
P{UAS-KMT2A-AFF1}
Cytology
Description

UAS regulatory sequences drive expression of a fusion protein in which the C-terminal portion of Hsap\KMT2A (including the PHD fingers and SET domain) has been replaced with amino acids 348-1211 of Hsap\AFF1.

(Muyrers-Chen et al., 2004)
Allele components
Component
Use(s)
Regulatory region(s)
UAS
Encoded product / tool
Hsap\KMT2A::Hsap\AFF1
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 ( 0 )
      Disease
      Evidence
      References
      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.
      (Muyrers-Chen et al., 2004)
      KMT2A/AFF1_fusion
      (FlyBase curators, 2019-)
      Variants Synonym(s)
      Associated human disease model(s)
      External database links
      COSMIC_fusion: KMT2A-AFF1
      Comments concerning this variant
      Phenotypic Data
      Phenotypic Class
      Phenotype Manifest In
      Detailed Description
      Statement
      Reference

      The pattern of BrdU incorporation is similar to wild type in the brains of larvae expressing Hsap\MLL::Hsap\AFF1Scer\UAS.cMa under the control of Scer\GAL4da.G32. Analysis of BrdU labelling indicates that the cells proceed through prophase and metaphase at a similar rate to wild type but show a delay in the later steps of mitosis. Chromatin structure appears normal in brain squashes of these larvae.

      (Muyrers-Chen et al., 2004)
      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

      Expression of Hsap\MLL::Hsap\AFF1Scer\UAS.cMa under the control of Scer\GAL4mat.αTub67C.T:Hsim\VP16 fails to rescue the cuticle pattern defects seen in trxB11 homozygous embryos.

      (Muyrers-Chen et al., 2004)
      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 (4)
      Reported As
      Symbol Synonym
      Hsap\KMT2A::Hsap\AFF1Scer\UAS.cMa
      Hsap\KMT2A::Hsap\AFF1UAS.cMa
      Hsap\MLL::Hsap\AFF1Scer\UAS.cMa
      Name Synonyms
      Saccharomyces cerevisiae UAS construct a of Muyrers-Chen
      Secondary FlyBase IDs
        References (2)