FB2024_03 , released June 25, 2024
Allele: Hsap\SPTBN2AM.UASp.Tag:MYC
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General Information
Symbol
Hsap\SPTBN2AM.UASp.Tag:MYC
Species
H. sapiens
Name
FlyBase ID
FBal0265235
Feature type
allele
Associated gene
Hsap\SPTBN2
Associated Insertion(s)
Carried in Construct
P{UASp-SPTBN2.AM.MYC}
Key Links
Transgenic product class
inframe_deletion
(Lorenzo et al., 2010)
Mutagen
Nature of the Allele
Transgenic product class
inframe_deletion
(Lorenzo et al., 2010)
Mutagen
in vitro construct
(Lorenzo et al., 2010)
Progenitor genotype
Carried in construct
P{UASp-SPTBN2.AM.MYC}
Cytology
Description

UASp regulatory sequences drive expression of a mutant form of Hsap\SPTBN2 containing an in-frame 39bp deletion from E532 to M544 tagged with Tag:MYC.

(Lorenzo et al., 2010)
Allele components
Component
Use(s)
Regulatory region(s)
UASp
Encoded product / tool
Hsap\SPTBN2
Tagged with
Tag:MYC
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  spinocerebellar ataxia type 5
      CEA
      (Lorenzo et al., 2010)
      Modifiers Based on Experimental Evidence ( 1 )
      Disease
      Interaction
      References
      model of  spinocerebellar ataxia type 5
      is exacerbated by DCTN1-p150Gl-1
      (Lorenzo et al., 2010)
      is exacerbated by Dhc64C6-10
      (Lorenzo et al., 2010)
      Comments on Models/Modifiers Based on Experimental Evidence ( 0 )
       
      Disease-implicated variant(s)
       
      This allele represents a human variant implicated in disease.
      (Lorenzo et al., 2010)
      SPTBN2:p.Glu532_Met544del
      (FlyBase curators, 2019-)
      Variants Synonym(s)
      Associated human disease model(s)
      External database links
      ClinVar: SPTBN2_5273
      Comments concerning this variant
      Phenotypic Data
      Phenotypic Class
      Phenotype Manifest In
      Detailed Description
      Statement
      Reference

      Expression of one copy of Hsap\SPTBN2AM.Scer\UAS.P\T.T:Hsap\MYC under the control of Scer\GAL4GMR.PF results in a severe rough eye phenotype characterised by disorganised ommatidia and loss of mechanosensory bristles. 10 day old flies show a severe disruption of the retinal organisation, with thinning of the retina and loss of retinal neurons. The extent of the neurodegeneration in the eye becomes more severe as flies age. By day 30 the eyes show dramatic changes in pigmentation and abundant necrotic tissue.

      Expression of one copy of Hsap\SPTBN2AM.Scer\UAS.P\T.T:Hsap\MYC under the control of Scer\GAL4elav.PU results in a reduced bouton number per muscle area in neuromuscular junctions on ventral longitudinal muscles 6/7 of larval abdominal segments 2 and 3. Approximately 31% of third instar larvae carrying two copies of the transgene exhibit a "tail-flip" crawling phenotype due to paralysis of the posterior segments of the body. No crawling defects are observed in larvae when only one copy of the transgene is present. Vesicle movement in segmental axons does not appear to be disrupted when one copy of the transgene is expressed.

      (Lorenzo et al., 2010)
      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

      Third instar larvae expressing one copy of Hsap\SPTBN2AM.Scer\UAS.P\T.T:Hsap\MYC under the control of Scer\GAL4elav.PU in a heterozygous Dhc64C6-10 mutant background exhibit a "tail flip" phenotype due to posterior paralysis as well as axonal vesicle accumulation. These phenotypes are not detected in either mutant alone.

      One copy of Dhc64C6-10 enhances the synapse size phenotype seen in the neuromuscular junction when Hsap\SPTBN2AM.Scer\UAS.P\T.T:Hsap\MYC is expressed under the control of Scer\GAL4elav.PU.

      The rough eye phenotype that is observed when Hsap\SPTBN2AM.Scer\UAS.P\T.T:Hsap\MYC is expressed under the control of Scer\GAL4GMR.PF is enhanced in a Dhc64C6-10/+ background. Severe eye phenotypes are seen involving disruptions of the ommatidial hexagonal packaging and loss of interommatidial bristles.

      44% of third instar larvae expressing one copy of Hsap\SPTBN2AM.Scer\UAS.P\T.T:Hsap\MYC under the control of Scer\GAL4elav.PU in a heterozygous Gl1 mutant background exhibit a "tail flip" phenotype due to posterior paralysis. 18% of larvae exhibit paralysis in the absence of the Scer\GAL4elav.PU driver.

      Expression of one copy of Hsap\SPTBN2AM.Scer\UAS.P\T.T:Hsap\MYC under the control of Scer\GAL4GMR.PF in a Gl1/+ mutant background enhances the rough eye and ommatidial disorganisation phenotypes seen in either mutant alone. Eyes from double mutant flies are reduced in size and show a dramatic roughness of the eye surface.

      (Lorenzo et al., 2010)
      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 (2)
      Reported As
      Symbol Synonym
      Hsap\SPTBN2AM.Scer\UAS.P\T.T:Hsap\MYC
      Hsap\SPTBN2AM.UASp.Tag:MYC
      Name Synonyms
      Secondary FlyBase IDs
        References (2)