FB2025_01 , released February 20, 2025
Allele: Dmel\TBPHG2
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General Information
Symbol
Dmel\TBPHG2
Species
D. melanogaster
Name
FlyBase ID
FBal0277269
Feature type
allele
Associated gene
Dmel\TBPH
Associated Insertion(s)
Carried in Construct
Key Links
Genomic Maps

Allele class

amorphic allele - molecular evidence

Mutagen
Nature of the Allele
Allele class

amorphic allele - molecular evidence

(Hazelett et al., 2012)
Mutagen
P-element activity
(Hazelett et al., 2012)
Progenitor genotype
P{SUPor-P}TBPHKG08578
(Hazelett et al., 2012)
Cytology
Description

Imprecise excision of the progenitor insertion resulting in a deletion (coordinates 2R:19749305..19751447 , release 5 genome) that removes the promoter region, 5'UTR and most of the first intron of TBPH.

(Hazelett et al., 2012)
Mutations Mapped to the Genome
Curation Data
Type
Location
Additional Notes
References
deletion
2R:23,861,782..23,863,924 [-]
Comment:

2143 bp deletion resulting from the imprecise excision of P{SUPor-P}TBPHKG08578.

(Hazelett et al., 2012)
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 )
      Modifiers Based on Experimental Evidence ( 1 )
      Disease
      Interaction
      References
      model of  amyotrophic lateral sclerosis type 10
      is ameliorated by cacUAS.EGFP
      (Chang et al., 2014)
      model of  amyotrophic lateral sclerosis
      is ameliorated by cacUAS.EGFP
      (Lembke et al., 2017)
      model of  frontotemporal dementia
      is ameliorated by cacUAS.EGFP
      (Lembke et al., 2017)
      Comments on Models/Modifiers Based on Experimental Evidence ( 0 )
       
      Disease-implicated variant(s)
       
      Phenotypic Data
      Phenotypic Class
      Phenotype Manifest In
      Detailed Description
      Statement
      Reference

      TBPHG2 mutants are adult lethal.

      TBPHG2 third instar larvae show a severe decrease in locomotor ability in crawling assays, associated with severely slower and less frequent peristaltic waves, as compared to controls.

      TBPHG2 homozygotes show significant decreases in the amplitude and frequency of spontaneous miniature endplate potentials, shows a significant increase in quantal content, but shows no significant difference in the amplitude of excitatory junctional potentials, during neurotransmission across the larval neuromuscular junction, as compared to controls; these defects are associated with a significant decrease in motor bursts and a significantly increased delay between A7 and A2 motor bursts, as compared to controls.

      (Lembke et al., 2017)

      TBPHG2/TBPHG2 third instar larvae have significantly reduced crawling behavior compared to controls; these mutants do not have any significant anatomical defects at the neuromuscular junction.

      (Chang et al., 2014)

      Homozygous larvae show severely reduced crawling behaviour compared to wild type.

      (Hazelett et al., 2012)
      External Data
      Interactions
      Show genetic interaction network for Enhancers & Suppressors
      Phenotypic Class
      Suppressed by
      NOT suppressed by
      Statement
      Reference

      TBPHG2 has lethal phenotype, non-suppressible by Scer\GAL4GMR15A04/cacUAS.EGFP

      (Lembke et al., 2017)

      TBPHG2 has abnormal neurophysiology | larval stage phenotype, non-suppressible by Scer\GAL4GMR75C05/cacUAS.EGFP

      (Lembke et al., 2017)

      TBPHG2 has abnormal neurophysiology | larval stage phenotype, non-suppressible by GluRIIASP16/GluRIIASP16

      (Lembke et al., 2017)

      TBPHG2 has abnormal locomotor behavior | third instar larval stage phenotype, non-suppressible by Scer\GAL4GMR82E12/cacUAS.EGFP

      (Lembke et al., 2017)

      TBPHG2 has abnormal locomotor behavior | third instar larval stage phenotype, non-suppressible by Scer\GAL4GMR15A04/cacUAS.EGFP

      (Lembke et al., 2017)

      TBPHG2 has lethal phenotype, non-suppressible by cacUAS.EGFP/Scer\GAL4Toll-6-D42

      (Lembke et al., 2017)

      TBPHG2 has lethal phenotype, non-suppressible by Scer\GAL4RapGAP1-OK6/cacUAS.EGFP

      (Lembke et al., 2017)

      TBPHG2 has lethal phenotype, non-suppressible by Scer\GAL4GMR75C05/cacUAS.EGFP

      (Lembke et al., 2017)

      TBPHG2 has lethal phenotype, non-suppressible by Scer\GAL4GMR12A09/cacUAS.EGFP

      (Lembke et al., 2017)

      TBPHG2 has lethal phenotype, non-suppressible by Scer\GAL4GMR82E12/cacUAS.EGFP

      (Lembke et al., 2017)

      TBPHG2 has lethal - all die before end of P-stage phenotype, non-suppressible by Scer\GAL4Appl.G1a/cacUAS.EGFP

      (Chang et al., 2014)

      TBPHG2 has lethal - all die before end of P-stage phenotype, non-suppressible by cacUAS.EGFP/Scer\GAL4Toll-6-D42

      (Chang et al., 2014)

      TBPHG2 has abnormal locomotor behavior | third instar larval stage phenotype, non-suppressible by Scer\GAL4ChAT.PU/cacUAS.EGFP

      (Chang et al., 2014)
      Suppressor of
      Statement
      Reference

      TBPHG2/TBPHG2 is a suppressor of abnormal neurophysiology | larval stage phenotype of GluRIIASP16

      (Lembke et al., 2017)
      Phenotype Manifest In
      Suppressed by
      NOT suppressed by
      Statement
      Reference

      TBPHG2 has neuromuscular junction | larval stage phenotype, non-suppressible by Scer\GAL4GMR75C05/cacUAS.EGFP

      (Lembke et al., 2017)
      Suppressor of
      Statement
      Reference

      TBPHG2/TBPHG2 is a suppressor of neuromuscular junction | larval stage phenotype of GluRIIASP16

      (Lembke et al., 2017)
      Additional Comments
      Genetic Interactions
      Statement
      Reference

      The decreased locomotor capacity of TBPHG2 third instar larvae in crawling assays is partially suppressed by the expression of cacScer\UAS.T:Avic\GFP-EGFP under the control of Scer\GAL4Toll-6-D42, Scer\GAL4RapGAP1-OK6, Scer\GAL4GMR75C05 or Scer\GAL4GMR12A09, but not of Scer\GAL4GMR82E12 or Scer\GAL4GMR15A04; the associated slower and less frequent peristaltic waves are also partially suppressed by the expression of cacScer\UAS.T:Avic\GFP-EGFP under the control of either Scer\GAL4RapGAP1-OK6 or Scer\GAL4GMR75C05. The adult lethality of TBPHG2 mutants is not rescued by any of these cacScer\UAS.T:Avic\GFP-EGFP expression conditions.

      The decreased frequency, but not the decreased amplitude, of spontaneous miniature endplate potentials in the neurotransmission across the TBPHG2 larval neuromuscular junction is partially suppressed by the expression of cacScer\UAS.T:Avic\GFP-EGFP under the control of Scer\GAL4RapGAP1-OK6, but not of Scer\GAL4GMR75C05.

      The increased quantal content in the neurotransmission across the larval neuromuscular junctions of either TBPHG2 or GluRIIASP16 is suppressed in the double mutants.

      (Lembke et al., 2017)

      Expression of cacScer\UAS.T:Avic\GFP-EGFP driven by Scer\GAL4Appl.G1a or Scer\GAL4Toll-6-D42 (but not Scer\GAL4ChAT.PU) significantly suppresses locomotor defects (but not pupal lethality) in TBPHG2/TBPHG2 third instar larvae.

      (Chang et al., 2014)
      Xenogenetic Interactions
      Statement
      Reference
      Complementation and Rescue Data
      Fails to complement

      TBPHΔ142

      (Hazelett et al., 2012)

      TBPHΔ23

      (Hazelett et al., 2012)
      Partially rescued by

      TBPHG2 is partially rescued by Scer\GAL4TBPH.PH/TBPHUAS.cHa

      (Lembke et al., 2017)

      TBPHG2 is partially rescued by Scer\GAL4TBPH.PH/TBPHUAS.cHa

      (Chang et al., 2014)

      TBPHG2 is partially rescued by Scer\GAL4Toll-6-D42/TBPHUAS.cHa

      (Hazelett et al., 2012)

      TBPHG2 is partially rescued by Scer\GAL4TBPH.PH/TBPHUAS.cHa

      (Hazelett et al., 2012)
      Not rescued by

      TBPHG2 is not rescued by Scer\GAL4GMR75C05/TBPHUAS.cHa

      (Lembke et al., 2017)
      Comments

      The decreased locomotor capacity in crawling assays, as well as the associated slower and less frequent peristaltic waves, observed in TBPHG2 third instar larvae is partially rescued by the expression of TBPHScer\UAS.cHa under the control of Scer\GAL4TBPH.PH, but not of Scer\GAL4GMR75C05.

      The decreased amplitude, but not the decreased frequency, of spontaneous miniature endplate potentials in the neurotransmission across the TBPHG2 larval neuromuscular junction is also partially rescued by the expression of TBPHScer\UAS.cHa under the control of Scer\GAL4TBPH.PH. The decrease in motor bursts and the increased delay between A7 and A2 motor bursts observed in these mutant larvae are also rescued by the expression of TBPHScer\UAS.cHa under the control of Scer\GAL4TBPH.PH.

      (Lembke et al., 2017)

      Expression of TBPHScer\UAS.cHa driven by Scer\GAL4TBPH.PH significantly partially rescues locomotor defects in TBPHG2/TBPHG2 third instar larvae.

      (Chang et al., 2014)

      Expression of TBPHScer\UAS.cHa under the control of Scer\GAL4D42 partially rescues the locomotor defects of TBPHG2 larvae.

      Expression of TBPHScer\UAS.cHa under the control of either Scer\GAL4D42 or Scer\GAL4TBPH.PH partially rescues the lethality of TBPHG2 animals.

      (Hazelett et al., 2012)
      Images (0)
      Mutant
      Wild-type
      Stocks (0)
      Notes on Origin
      Discoverer
      External Crossreferences and Linkouts ( 0 )
      Synonyms and Secondary IDs (4)
      Reported As
      Symbol Synonym
      G2
      (Hazelett et al., 2012)
      TBPHG2
      (Ikeda et al., 2024)
      TBPHPxG2
      (Hazelett et al., 2012)
      tbphΔ
      (Lembke et al., 2017)
      Name Synonyms
      Secondary FlyBase IDs
        References (4)