FB2026_02 , released June 18, 2026
Allele: Hsap\MAPTtau.1N4R-K369I
Open Close
General Information
Symbol
Hsap\MAPTtau.1N4R-K369I
Species
H. sapiens
Name
FlyBase ID
FBal0375788
Feature type
allele
Associated gene
Hsap\MAPT
Associated Insertion(s)
TI{TI}tauhTau.1N4R-K369I
Carried in Construct
Key Links
Allele class
Mutagen
Nature of the Allele
Allele class
Mutagen
CRISPR/Cas9
(Law et al., 2022)
gene targeting by homologous recombination
(Law et al., 2022)
Progenitor genotype
Associated Insertion(s)
TI{TI}tauhTau.1N4R-K369I
Cytology
Description

A cDNA encoding the Hsap\MAPT 1N4R isoform, mutated to carry the K369I amino acid replacement (a variant identified in patients with Pick's disease), has been knocked in to the endogenous tau locus (the human coding sequence replaces the endogenous Drosophila coding sequence).

(Law et al., 2022)
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  Pick's disease
      CEA
      (Law 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)
       
      This allele represents a human variant implicated in disease.
      (Law et al., 2022)
      MAPT:p.Lys686Ile
      (FlyBase curators, 2019-)
      Variants Synonym(s)
      MAPT:p.Lys369Ile
      many
      MAPT:p.Lys761Ile
      MAPT:p.Lys280Ile
      MAPT:p.Lys309Ile
      MAPT:p.Lys338Ile
      MAPT:p.Lys704Ile
      Associated human disease model(s)
      External database links
      ClinVar: 14260
      Comments concerning this variant
      Phenotypic Data
      Phenotypic Class
      Phenotype Manifest In
      Detailed Description
      Statement
      Reference
      External Data
      Interactions
      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\MAPTtau.1N4R-K369I
      hTauK369I
      (Law et al., 2022)
      hTauKI
      (Law et al., 2022)
      Name Synonyms
      Secondary FlyBase IDs
        References (3)