FB2025_01 , released February 20, 2025
Allele: Hsap\TARDBPQ331K.UAS.cSa
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General Information
Symbol
Hsap\TARDBPQ331K.UAS.cSa
Species
H. sapiens
Name
Saccharomyces cerevisiae UAS construct a of Sreedharan
FlyBase ID
FBal0316422
Feature type
allele
Associated gene
Hsap\TARDBP
Associated Insertion(s)
Carried in Construct
P{UAS-TDP-43.Q331K.S}
PBac{UAS-TDP-43.Q331K.S}
Key Links
Transgenic product class
missense_variant
(Sreedharan et al., 2015)
Mutagen
Nature of the Allele
Transgenic product class
missense_variant
(Sreedharan et al., 2015)
Mutagen
in vitro construct
(Sreedharan et al., 2015)
Progenitor genotype
Carried in construct
P{UAS-TDP-43.Q331K.S}
PBac{UAS-TDP-43.Q331K.S}
Cytology
Description

UAS regulatory sequences drive expression of full length Hsap\TARDBP in which the glutamine at residue 331 has been replaced by lysine.

(Sreedharan et al., 2015)
Allele components
Component
Use(s)
Regulatory region(s)
UAS
Encoded product / tool
Hsap\TARDBP
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  amyotrophic lateral sclerosis
      CEA
      (Sreedharan et al., 2015)
      Modifiers Based on Experimental Evidence ( 1 )
      Disease
      Interaction
      References
      model of  amyotrophic lateral sclerosis
      is ameliorated by htk39
      (Sreedharan et al., 2015)
      is ameliorated by xmas45
      (Sreedharan et al., 2015)
      is ameliorated by sggJ11
      (Sreedharan et al., 2015)
      is ameliorated by htk71
      (Sreedharan et al., 2015)
      is ameliorated by xmasf04114
      (Sreedharan et al., 2015)
      is ameliorated by htk47
      (Sreedharan et al., 2015)
      Comments on Models/Modifiers Based on Experimental Evidence ( 0 )
       
      Disease-implicated variant(s)
       
      This allele represents a human variant implicated in disease.
      (Sreedharan et al., 2015)
      TARDBP:p.Gln331Lys
      (FlyBase curators, 2019-)
      Variants Synonym(s)
      Associated human disease model(s)
      External database links
      ClinVar: TARDBP_5229
      Comments concerning this variant
      Phenotypic Data
      Phenotypic Class
      Phenotype Manifest In
      Detailed Description
      Statement
      Reference

      Leg motor neuron clones that express TBPHScer\UAS.cDa under the control of Scer\GAL4VGlut-OK371 exhibit severe motor axon and NMJ degeneration. By 7 days post-eclosion degeneration is seen in over 50% of motor neurons. Axons develop transverse striations and progressively lose structural integrity, and NMJs exhibit reduced active zone density. No apoptosis is seen in the motor neuron cell bodies. Sensory neurons are less severely affected.

      (Sreedharan et al., 2015)
      External Data
      Interactions
      Show genetic interaction network for Enhancers & Suppressors
      Phenotypic Class
      Suppressed by
      NOT suppressed by
      NOT Suppressor of
      Phenotype Manifest In
      Suppressed by
      Statement
      Reference

      Hsap\TARDBPQ331K.UAS.cSa, Scer\GAL4VGlut1-OK371 has leg | somatic clone phenotype, suppressible | partially by sggJ11

      (Sreedharan et al., 2015)

      Hsap\TARDBPQ331K.UAS.cSa, Scer\GAL4VGlut1-OK371 has motor neuron | somatic clone phenotype, suppressible | partially by sggJ11

      (Sreedharan et al., 2015)

      Hsap\TARDBPQ331K.UAS.cSa, Scer\GAL4VGlut1-OK371 has leg | somatic clone phenotype, suppressible | partially by htk71

      (Sreedharan et al., 2015)

      Hsap\TARDBPQ331K.UAS.cSa, Scer\GAL4VGlut1-OK371 has motor neuron | somatic clone phenotype, suppressible | partially by htk71

      (Sreedharan et al., 2015)

      Hsap\TARDBPQ331K.UAS.cSa, Scer\GAL4VGlut1-OK371 has leg | somatic clone phenotype, suppressible by htk39

      (Sreedharan et al., 2015)

      Hsap\TARDBPQ331K.UAS.cSa, Scer\GAL4VGlut1-OK371 has motor neuron | somatic clone phenotype, suppressible by htk39

      (Sreedharan et al., 2015)

      Hsap\TARDBPQ331K.UAS.cSa, Scer\GAL4VGlut1-OK371 has leg | somatic clone phenotype, suppressible by htk47

      (Sreedharan et al., 2015)

      Hsap\TARDBPQ331K.UAS.cSa, Scer\GAL4VGlut1-OK371 has motor neuron | somatic clone phenotype, suppressible by htk47

      (Sreedharan et al., 2015)

      Hsap\TARDBPQ331K.UAS.cSa, Scer\GAL4VGlut1-OK371 has leg | somatic clone phenotype, suppressible by xmas45

      (Sreedharan et al., 2015)

      Hsap\TARDBPQ331K.UAS.cSa, Scer\GAL4VGlut1-OK371 has motor neuron | somatic clone phenotype, suppressible by xmas45

      (Sreedharan et al., 2015)

      Hsap\TARDBPQ331K.UAS.cSa, Scer\GAL4VGlut1-OK371 has leg | somatic clone phenotype, suppressible by xmasf04114

      (Sreedharan et al., 2015)

      Hsap\TARDBPQ331K.UAS.cSa, Scer\GAL4VGlut1-OK371 has motor neuron | somatic clone phenotype, suppressible by xmasf04114

      (Sreedharan et al., 2015)

      Hsap\TARDBPQ331K.UAS.cSa, Scer\GAL4VGlut1-OK371 has leg | somatic clone phenotype, suppressible by sbr12

      (Sreedharan et al., 2015)

      Hsap\TARDBPQ331K.UAS.cSa, Scer\GAL4VGlut1-OK371 has motor neuron | somatic clone phenotype, suppressible by sbr12

      (Sreedharan et al., 2015)
      NOT suppressed by
      Statement
      Reference

      Hsap\TARDBPQ331K.UAS.cSa, Scer\GAL4VGlut1-OK371 has leg | somatic clone phenotype, non-suppressible by sggJ11/sggUAS.cBa, Scer\GAL4VGlut1-OK371

      (Sreedharan et al., 2015)

      Hsap\TARDBPQ331K.UAS.cSa, Scer\GAL4VGlut1-OK371 has motor neuron | somatic clone phenotype, non-suppressible by sggJ11/sggUAS.cBa, Scer\GAL4VGlut1-OK371

      (Sreedharan et al., 2015)

      Hsap\TARDBPQ331K.UAS.cSa, Scer\GAL4VGlut1-OK371 has leg | somatic clone phenotype, non-suppressible by Rbf14

      (Sreedharan et al., 2015)

      Hsap\TARDBPQ331K.UAS.cSa, Scer\GAL4VGlut1-OK371 has motor neuron | somatic clone phenotype, non-suppressible by Rbf14

      (Sreedharan et al., 2015)

      Hsap\TARDBPQ331K.UAS.cSa, Scer\GAL4VGlut1-OK371 has leg | somatic clone phenotype, non-suppressible by RbfCAS-21

      (Sreedharan et al., 2015)

      Hsap\TARDBPQ331K.UAS.cSa, Scer\GAL4VGlut1-OK371 has motor neuron | somatic clone phenotype, non-suppressible by RbfCAS-21

      (Sreedharan et al., 2015)

      Hsap\TARDBPQ331K.UAS.cSa, Scer\GAL4VGlut1-OK371 has leg | somatic clone phenotype, non-suppressible by Dp(1;3)DC325/xmas45

      (Sreedharan et al., 2015)

      Hsap\TARDBPQ331K.UAS.cSa, Scer\GAL4VGlut1-OK371 has motor neuron | somatic clone phenotype, non-suppressible by Dp(1;3)DC325/xmas45

      (Sreedharan et al., 2015)

      Hsap\TARDBPQ331K.UAS.cSa, Scer\GAL4VGlut1-OK371 has leg | somatic clone phenotype, non-suppressible by sggJ11/Dp(1;3)DC048

      (Sreedharan et al., 2015)

      Hsap\TARDBPQ331K.UAS.cSa, Scer\GAL4VGlut1-OK371 has motor neuron | somatic clone phenotype, non-suppressible by sggJ11/Dp(1;3)DC048

      (Sreedharan et al., 2015)

      Hsap\TARDBPQ331K.UAS.cSa, Scer\GAL4VGlut1-OK371 has leg | somatic clone phenotype, non-suppressible by Hsap\TARDBPQ331K.UAS.cSa, Scer\GAL4VGlut1-OK371

      (Sreedharan et al., 2015)

      Hsap\TARDBPQ331K.UAS.cSa, Scer\GAL4VGlut1-OK371 has motor neuron | somatic clone phenotype, non-suppressible by Hsap\TARDBPQ331K.UAS.cSa, Scer\GAL4VGlut1-OK371

      (Sreedharan et al., 2015)

      Hsap\TARDBPQ331K.UAS.cSa, Scer\GAL4VGlut1-OK371 has leg | somatic clone phenotype, non-suppressible by Sarm896

      (Sreedharan et al., 2015)

      Hsap\TARDBPQ331K.UAS.cSa, Scer\GAL4VGlut1-OK371 has motor neuron | somatic clone phenotype, non-suppressible by Sarm896

      (Sreedharan et al., 2015)
      NOT Suppressor of
      Additional Comments
      Genetic Interactions
      Statement
      Reference
      Xenogenetic Interactions
      Statement
      Reference

      sggJ11 suppresses the degeneration seen in leg motor neuron clones expressing Hsap\TARDBPQ331K.Scer\UAS.cSa under the control of Scer\GAL4VGlut-OK371. This suppression is reversed upon expression of sggScer\UAS.cBa or in the presence of Dp(1;3)DC048.

      Expression of Mmus\wldS.Scer\UAS.cNa does not suppress the degeneration seen in leg motor neuron clones expressing Hsap\TARDBPQ331K.Scer\UAS.cSa under the control of Scer\GAL4VGlut-OK371.

      Ect4896 does not suppress the degeneration seen in leg motor neuron clones expressing Hsap\TARDBPQ331K.Scer\UAS.cSa under the control of Scer\GAL4VGlut-OK371.

      sggJ11 partially suppresses the degeneration seen in leg motor neuron clones expressing Hsap\TARDBPQ331K.Scer\UAS.cSa under the control of Scer\GAL4VGlut-OK371. This suppression is reversed upon expression of sggScer\UAS.cBa or in the presence of Dp(1;3)DC048.

      htk71 partially suppresses the degeneration seen in leg motor neuron clones expressing Hsap\TARDBPQ331K.Scer\UAS.cSa under the control of Scer\GAL4VGlut-OK371. This suppression is reversed in the presence of Dp(1;3)DC353.

      htk39 suppresses the degeneration seen in leg motor neuron clones expressing Hsap\TARDBPQ331K.Scer\UAS.cSa under the control of Scer\GAL4VGlut-OK371.

      htk47 suppresses the degeneration seen in leg motor neuron clones expressing Hsap\TARDBPQ331K.Scer\UAS.cSa under the control of Scer\GAL4VGlut-OK371.

      Rbf14 does not suppress the degeneration seen in leg motor neuron clones expressing Hsap\TARDBPQ331K.Scer\UAS.cSa under the control of Scer\GAL4VGlut-OK371.

      RbfCAS-21 does not suppress the degeneration seen in leg motor neuron clones expressing Hsap\TARDBPQ331K.Scer\UAS.cSa under the control of Scer\GAL4VGlut-OK371.

      xmas-245 suppresses the degeneration seen in leg motor neuron clones expressing Hsap\TARDBPQ331K.Scer\UAS.cSa under the control of Scer\GAL4VGlut-OK371. This suppression is reversed in the presence of Dp(1;3)DC325.

      xmas-2f04114 suppresses the degeneration seen in leg motor neuron clones expressing Hsap\TARDBPQ331K.Scer\UAS.cSa under the control of Scer\GAL4VGlut-OK371.

      sbr12 does not suppress the degeneration seen in leg motor neuron clones expressing Hsap\TARDBPQ331K.Scer\UAS.cSa under the control of Scer\GAL4VGlut-OK371.

      (Sreedharan et al., 2015)
      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\TARDBPQ331K.Scer\UAS.cSa
      Hsap\TARDBPQ331K.UAS.cSa
      Name Synonyms
      Saccharomyces cerevisiae UAS construct a of Sreedharan
      Secondary FlyBase IDs
        References (2)