FB2025_01 , released February 20, 2025
Allele: Dmel\Ogdh1A343V.UAS.Tag:FLAG
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General Information
Symbol
Dmel\Ogdh1A343V.UAS.Tag:FLAG
Species
D. melanogaster
Name
FlyBase ID
FBal0370923
Feature type
allele
Associated gene
Dmel\Ogdh1
Associated Insertion(s)
Carried in Construct
PBac{UAS-Ogdh1.A343V.Flag}
Key Links
Genomic Maps

Transgenic product class
missense_variant
(Yap et al., 2021)
Mutagen
Nature of the Allele
Transgenic product class
missense_variant
(Yap et al., 2021)
Mutagen
in vitro construct
(Yap et al., 2021)
Progenitor genotype
Carried in construct
PBac{UAS-Ogdh1.A343V.Flag}
Cytology
Description

UASt regulatory sequences drive expression of a Ogdh cDNA, mutated to carry a A343V amino acid replacement, and tagged with Tag:FLAG. The mutation is equivalent to a A327V change in the orthologous human OGDHL gene, a variant identified in an individual with bi-allelic variants in the OGDHL gene and with a range of neurological and neurodevelopmental phenotypes.

(Yap et al., 2021)
Allele components
Component
Use(s)
Regulatory region(s)
UASt
Encoded product / tool
Ogdh1
Tagged with
Tag:FLAG
Mutations Mapped to the Genome
Curation Data
Type
Location
Additional Notes
References
point_mutation
3L:16,962,880..16,962,880 [+]
Nucleotide change:

C16962880T

Amino acid change:

A334V | Ogdh1-PA; A334V | Ogdh1-PB; A334V | Ogdh1-PC; A343V | Ogdh1-PF; A334V | Ogdh1-PG; A343V | Ogdh1-PH; A334V | Ogdh1-PI; A334V | Ogdh1-PJ; A336V | Ogdh1-PK

Reported amino acid change:

A343V

Comment:

Analogous A327V mutation in human OGDHL implicated in neurodegenerative disease, OGDHL-related; mutation carried on in vitro construct; site of nucleotide substitution in fly gene inferred by FlyBase curator based on reported amino acid change.

(Yap et al., 2021)
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  Yoon-Bellen neurodevelopmental syndrome
      CEC
      (Yap et al., 2021)
      Modifiers Based on Experimental Evidence ( 1 )
      Disease
      Interaction
      References
      ameliorates  Yoon-Bellen neurodevelopmental syndrome
      modeled by Ogdh1gRNA.pCFD3
      (Yap et al., 2021)
      Comments on Models/Modifiers Based on Experimental Evidence ( 0 )
       
      Disease-implicated variant(s)
       
      This allele represents a human variant implicated in disease.
      (Yap et al., 2021)
      OGDHL:p.Ala327Val
      (FlyBase curators, 2019-)
      Variants Synonym(s)
      many
      Associated human disease model(s)
      External database links
      Comments concerning this variant
      Phenotypic Data
      Phenotypic Class
      Phenotype Manifest In
      Detailed Description
      Statement
      Reference
      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 (0)
      Notes on Origin
      Discoverer
      External Crossreferences and Linkouts ( 0 )
      Synonyms and Secondary IDs (2)
      Reported As
      Symbol Synonym
      Ogdh1A343V.UAS.Tag:FLAG
      OgdhA343V.UAS.Tag:FLAG
      Name Synonyms
      Secondary FlyBase IDs
        References (2)