FB2024_03 , released June 25, 2024
Allele: Hsap\MAPTR406W.S2A.UAS.0N4R
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General Information
Symbol
Hsap\MAPTR406W.S2A.UAS.0N4R
Species
H. sapiens
Name
FlyBase ID
FBal0156382
Feature type
allele
Associated gene
Hsap\MAPT
Associated Insertion(s)
Carried in Construct
P{UAS-htau.0N4R.R406W.S2A}
Key Links
Transgenic product class
missense_variant
(Nishimura et al., 2004)
polypeptide_post_translational_processing_variant
(Nishimura et al., 2004)
Mutagen
Nature of the Allele
Transgenic product class
missense_variant
(Nishimura et al., 2004)
polypeptide_post_translational_processing_variant
(Nishimura et al., 2004)
Mutagen
in vitro construct
(Nishimura et al., 2004)
Progenitor genotype
Carried in construct
P{UAS-htau.0N4R.R406W.S2A}
Cytology
Description

UASt regulatory sequences drive expression of a mutated form of Hsap\MAPT that carries both the R406W mutation associated with a familial form of FTDP-17 plus mutations (S262A and S356A) in two PAR-1 phosphorylation sites.

(Nishimura et al., 2004)
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
      DOES NOT model  neurodegenerative disease
      CEA
      (Nishimura et al., 2004)
      DOES NOT model  tauopathy
      CEA
      (Nishimura et al., 2004)
      model of  tauopathy
      CEA with Hsap\MAPTR406W.S2A.UAS.0N4R
      (Lee et al., 2012)
      CEA
      (Sun 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.
      (Nishimura et al., 2004)
      Phenotypic Data
      Phenotypic Class
      Phenotype Manifest In
      Detailed Description
      Statement
      Reference

      Expression of Hsap\MAPTR406W.S2A.Scer\UAS.0N4R under the control of Scer\GAL4GMR.PU results in a rough eye phenotype, but this is milder than the phenotype seen in flies expressing Hsap\MAPTR406W.Scer\UAS.

      Expression under the control of Scer\GAL4elav.PU reduces lifespan, but less severely then in Hsap\MAPTR406W.Scer\UAS mutants. Far fewer vacuoles are also seen. Feeding flies ZnCl[[2]] exacerbates the lifespan and brain vacuolisation phenotypes.

      (Huang et al., 2014)

      Expression of Hsap\MAPTS2A.Scer\UAS under the control of Scer\GAL4elav.PU is not toxic on mushroom body (MB) development. Animals expressing Hsap\MAPTS2A.Scer\UAS show normal MB morphology.

      Animals expressing Hsap\MAPTS2A.Scer\UAS under the control of Scer\GAL4elav.PU display similar associative olfactory learning performance to that of controls.

      (Kosmidis et al., 2010)

      Flies expressing Hsap\MAPTS2A.Scer\UAS in neurons under the control of Scer\GAL4elav.PU do not show mushroom body aberrations.

      (Papanikolopoulou et al., 2010)

      Expression of Hsap\MAPTS2A.Scer\UAS under the control of Scer\GAL4GMR.PF results in a rough eye phenotype and mild photoreceptor loss.

      (Wang et al., 2007)

      Expression of Hsap\MAPTR406W.S2A.Scer\UAS.0N4R under the control of Scer\GAL4hs.2sev has little effect on eye morphology or photoreceptor number.

      (Nishimura et al., 2004)
      External Data
      Interactions
      Show genetic interaction network for Enhancers & Suppressors
      Phenotypic Class
      Phenotype Manifest In
      NOT Enhanced by
      NOT Enhancer of
      NOT Suppressor of
      Additional Comments
      Genetic Interactions
      Statement
      Reference
      Xenogenetic Interactions
      Statement
      Reference

      The eyes of flies co-expressing Scer\GAL4GMR.PU>Hsap\MAPTS2A.Scer\UAS and Hsap\SOD1Scer\UAS.cWa or Hsap\SOD1A4V.Scer\UAS are indistinguishable from the flies expressing Hsap\MAPTS2A.Scer\UAS alone, and they are mostly normal. Lifespan or climbing ability of Hsap\MAPTS2A.Scer\UAS-expressing flies is also not affected by co-expression of Hsap\SOD1Scer\UAS.cWa or Hsap\SOD1A4V.Scer\UAS.

      (Huang et al., 2015)

      Expression of lkb1Scer\UAS.cWa does not enhance the photoreceptor loss phenotype seen when Hsap\MAPTS2A.Scer\UAS is expressed under the control of Scer\GAL4GMR.PF.

      (Wang et al., 2007)

      Co-expression of Hsap\MAPTR406W.S2A.Scer\UAS.0N4R in flies expressing par-1Scer\UAS.cSa under the control of Scer\GAL4hs.2sev results in a mild rough eye phenotype similar to that seen in flies expressing par-1Scer\UAS.cSa under the control of Scer\GAL4hs.2sev alone.

      (Nishimura 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 (3)
      Reported As
      Symbol Synonym
      Hsap\MAPTR406W.S2A.Scer\UAS.0N4R
      Hsap\MAPTR406W.S2A.UAS.0N4R
      Hsap\MAPTS2A.Scer\UAS
      Name Synonyms
      Secondary FlyBase IDs
        References (10)