FB2024_03 , released June 25, 2024
Allele: Hsap\MAPTAP421.UAS
Open Close
General Information
Symbol
Hsap\MAPTAP421.UAS
Species
H. sapiens
Name
FlyBase ID
FBal0362605
Feature type
allele
Associated gene
Hsap\MAPT
Associated Insertion(s)
Carried in Construct
P{UAS-hMAPT.AP421}
Key Links
Transgenic product class
inframe_deletion
(Chi et al., 2020)
missense_variant
(Chi et al., 2020)
polypeptide_post_translational_processing_variant
(Chi et al., 2020)
Mutagen
Nature of the Allele
Transgenic product class
inframe_deletion
(Chi et al., 2020)
missense_variant
(Chi et al., 2020)
polypeptide_post_translational_processing_variant
(Chi et al., 2020)
Mutagen
in vitro construct
(Chi et al., 2020)
Progenitor genotype
Carried in construct
P{UAS-hMAPT.AP421}
Cytology
Description

UASt regulates expression of residues 1-421 of the 2N4R form of Hsap\MAPT, mimicking the full-length form truncated at the Asp421 site, and in which 14 Ser/Thr sites (Thr111, Thr153, Ser175, Thr181, Ser199, Ser202, Thr205, Thr212, Thr217, Thr231, Ser235, Ser396, Ser404 and Ser422) are changed to alanines mimicking non-phosphorylation. Phosphorylation status affects pathogenicity in human patients and the truncated form is associated with Alzheimer's Disease.

(Chi et al., 2020)
Allele components
Component
Use(s)
Regulatory region(s)
UASt
Encoded product / tool
Hsap\MAPT
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  tauopathy
      CEA
      (Chi et al., 2020)
      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.
      (Chi et al., 2020)
      Phenotypic Data
      Phenotypic Class
      Phenotype Manifest In
      Detailed Description
      Statement
      Reference

      Expressing Hsap\MAPTAP421.UAS under the control of Scer\GAL4GMR.PF leads to a rough eye phenotype on the posterior part of the eye, with disruption of the photoreceptor organization. Expression under the control of Scer\GAL4Gad1.3.098 leads to decreased locomotion (decreased walking distance, speed and increased wobbling).

      (Chi et al., 2020)
      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 (1)
      Reported As
      Symbol Synonym
      Hsap\MAPTAP421.UAS
      Name Synonyms
      Secondary FlyBase IDs
        References (2)