FB2024_03 , released June 25, 2024
Allele: Dmel\Idh3a1
Open Close
General Information
Symbol
Dmel\Idh3a1
Species
D. melanogaster
Name
FlyBase ID
FBal0343642
Feature type
allele
Associated gene
Dmel\Idh3a
Associated Insertion(s)
Carried in Construct
Key Links
Genomic Maps

Allele class
Mutagen
Nature of the Allele
Allele class
Mutagen
ethyl methanesulfonate
(Ugur et al., 2017, Yamamoto et al., 2013-)
Progenitor genotype
Cytology
Description

A splice site mutation in the exon 5-6 junction.

(Ugur et al., 2017)

Splice donor mutation (A to T as position X:19 ,519,694, release 6 coordinates).

(Yamamoto et al., 2013-)
Mutations Mapped to the Genome
Curation Data
Type
Location
Additional Notes
References
point_mutation
X:19,519,833..19,519,833 [-]
Comment:

An unspecified mutation in the splice acceptor site. The splice site mutation has been arbitrarily mapped by a FlyBase curator to the first base of the splice acceptor site.

(Ugur et al., 2017)
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  neuromuscular junction disease
      CEA
      (Ugur et al., 2017)
      Modifiers Based on Experimental Evidence ( 0 )
      Disease
      Interaction
      References
      Comments on Models/Modifiers Based on Experimental Evidence ( 1 )
       

      Disease-related phenotypes are assessed in Idh3a1 eye clones.

      (Ugur et al., 2017)
      Disease-implicated variant(s)
       
      Phenotypic Data
      Phenotypic Class
      Phenotype Manifest In
      Detailed Description
      Statement
      Reference

      Idh3a1 hemizygous larvae exhibit decreased peristalsis and locomotion; muscles and boutons exhibit mitochondria with highly aberrant mitochondrial cristae. Neuromuscular junctions display fewer, heterogeneous synaptic vesicles, particularly next to T-bars; and exhibit aberrant synaptic transmission, namely increased frequency of miniature excitatory junction potentials, increased miniature excitatory junction current frequency and amplitude, decreased amplitude of evoked excitatory junction potentials, decreased quantal content and abnormal response to high-frequency stimulation (evoked excitatory junction potential amplitude).

      Idh3a1 eye-specific clones (ey-FLP) show defective retinal synaptic transmission, with decreased ERG amplitude and loss of on and off transients.

      (Ugur et al., 2017)
      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
      Complementation and Rescue Data
      Images (0)
      Mutant
      Wild-type
      Stocks (1)
      Notes on Origin
      Discoverer
      External Crossreferences and Linkouts ( 0 )
      Synonyms and Secondary IDs (4)
      Reported As
      Symbol Synonym
      Idh3a1
      (Ugur, 2018.10.23)
      Idh3aA
      (Ugur, 2018.10.23)
      idh3a1
      (Ugur et al., 2017)
      l(1)G0156A
      (Yamamoto et al., 2013-)
      Name Synonyms
      Secondary FlyBase IDs
      • FBal0341824
      • FBal0298903
      References (3)