FB2026_01 , released March 12, 2026
FB2026_01 , released March 12, 2026
Allele: Dmel\sloE366G
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General Information
Symbol
Dmel\sloE366G
Species
D. melanogaster
Name
FlyBase ID
FBal0368322
Feature type
allele
Associated gene
Dmel\slo
Associated Insertion(s)
TI{TI}sloE366G
Carried in Construct
Key Links
Genomic Maps

Allele class
Mutagen
Nature of the Allele
Allele class
Mutagen
ends-out gene targeting
(Kratschmer et al., 2021)
cre recombinase
(Kratschmer et al., 2021)
Progenitor genotype
Associated Insertion(s)
TI{TI}sloE366G
Cytology
Description

A E366G amino acid substitution has been introduced into the endogenous slo locus. This change is equivalent to a D434G change in the orthologous human KCNMA1 gene, a variant associated with type-3 paroxysmal non-kinesigenic dyskinesia (PNKD). In addition, a 76bp sequence (that includes a single loxP site) has been inserted into the intron upstream of slo exon 10.

(Kratschmer et al., 2021)
Allele components
Component
Use(s)
Also carries
loxP
Mutations Mapped to the Genome
Curation Data
Type
Location
Additional Notes
References
point_mutation
3R:24,687,264..24,687,264 [+]
Nucleotide change:

A24687264G

Amino acid change:

E383G | slo-PA; E366G | slo-PB; E366G | slo-PC; E383G | slo-PD; E383G | slo-PE; E383G | slo-PF; E383G | slo-PH; E383G | slo-PI; E383G | slo-PJ; E383G | slo-PK; E383G | slo-PL; E383G | slo-PM; E383G | slo-PN; E383G | slo-PO; E383G | slo-PP; E383G | slo-PQ; E366G | slo-PR; E366G | slo-PS; E366G | slo-PT; E383G | slo-PU; E366G | slo-PV; E366G | slo-PW; E366G | slo-PX

Reported amino acid change:

E366G

Comment:

Analogous D434G mutation in human KCNMA1 implicated in paroxysmal nonkinesigenic dyskinesia.

(Kratschmer 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 )
      Modifiers Based on Experimental Evidence ( 1 )
      Disease
      Interaction
      References
      model of  paroxysmal nonkinesigenic dyskinesia 3
      is ameliorated by dyscs168
      (Lowe et al., 2024, Kratschmer 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.
      (Kratschmer et al., 2021)
      KCNMA1:p.Asp434Gly
      (FlyBase curators, 2019-)
      Variants Synonym(s)
      KCNMA1:p.Asp254Gly
      KCNMA1:p.Asp380Gly
      Associated human disease model(s)
      External database links
      ClinVar: 9427
      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
      Comments
      Images (0)
      Mutant
      Wild-type
      Stocks (0)
      Notes on Origin
      Discoverer
      External Crossreferences and Linkouts ( 0 )
      Synonyms and Secondary IDs (1)
      Reported As
      Symbol Synonym
      sloE366G
      (Lowe et al., 2024, Kratschmer et al., 2021)
      Name Synonyms
      Secondary FlyBase IDs
        References (3)