FB2026_01 , released March 12, 2026
FB2026_01 , released March 12, 2026
Allele: Dmel\tauP251L
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General Information
Symbol
Dmel\tauP251L
Species
D. melanogaster
Name
FlyBase ID
FBal0402336
Feature type
allele
Associated gene
Dmel\tau
Associated Insertion(s)
Carried in Construct
Key Links
Genomic Maps

Allele class
Mutagen
Nature of the Allele
Allele class
Mutagen
CRISPR/Cas9
(Bukhari et al., 2024)
gene targeting by homologous recombination
(Bukhari et al., 2024)
Progenitor genotype
Cytology
Description

Amino acid replacement: P251L.

(Bukhari et al., 2024)

The P251L change is equivalent to a P301L change in the orthologous human MAPT gene, a variant associated with frontotemporal dementia.

(Bukhari et al., 2024)
Mutations Mapped to the Genome
Curation Data
Type
Location
Additional Notes
References
point_mutation
3R:27,645,340..27,645,340 [-]
Nucleotide change:

C27645340T

Reported nucleotide change:

C?T

Amino acid change:

P251L | tau-PA; P251L | tau-PB; P251L | tau-PC; P251L | tau-PF; P607L | tau-PG; P251L | tau-PI; P251L | tau-PJ; P168L | tau-PK; P168L | tau-PL; P251L | tau-PM; P251L | tau-PN; P251L | tau-PO

Reported amino acid change:

P251L

Comment:

Analogous mutation in human MAPT implicated in frontotemporal dementia; mutation carried on in vitro construct.

(Bukhari et al., 2024)
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
      (Bukhari et al., 2024)
      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.
      (Bukhari et al., 2024)
      MAPT:p.Pro618Leu
      (FlyBase curators, 2019-)
      Variants Synonym(s)
      MAPT:p.Pro301Leu
      MAPT:p.Pro693Leu
      MAPT:p.Pro243Leu
      MAPT:p.Pro272Leu
      MAPT:p.Pro636Leu
      Associated human disease model(s)
      External database links
      ClinVar: MAPT_14245
      Comments concerning this variant
      Phenotypic 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 (3)
      Reported As
      Symbol Synonym
      Tau P251L KI
      (Bukhari et al., 2024)
      tau-P251L
      (Bukhari et al., 2024)
      tauP251L
      Name Synonyms
      Secondary FlyBase IDs
        References (2)