FB2026_02 , released June 18, 2026
Allele: Dmel\Dhc64CK129I
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General Information
Symbol
Dmel\Dhc64CK129I
Species
D. melanogaster
Name
FlyBase ID
FBal0404602
Feature type
allele
Associated gene
Dmel\Dhc64C
Associated Insertion(s)
Carried in Construct
Key Links
Genomic Maps

Allele class
Mutagen
Nature of the Allele
Allele class
Mutagen
CRISPR/Cas9
(Salvador-Garcia et al., 2024)
gene targeting by homologous recombination
(Salvador-Garcia et al., 2024)
Progenitor genotype
Cytology
Description

Amino acid replacement: K129I.

(Salvador-Garcia et al., 2024)

The K129I amino acid replacement in Dhc64C is equivalent to a K129I change in the orthologous human DYNC1H1 gene, a variant associated with malformations in cortical development and intellectual disability.

(Salvador-Garcia et al., 2024)
Mutations Mapped to the Genome
Curation Data
Type
Location
Additional Notes
References
MNV
3L:4,824,019..4,824,020 [-]
Nucleotide change:

AG4824020TC

Reported nucleotide change:

AG?TC

Amino acid change:

K129I | Dhc64C-PA; K129I | Dhc64C-PC; K129I | Dhc64C-PD; K129I | Dhc64C-PE; K129I | Dhc64C-PF; K129I | Dhc64C-PG; K129I | Dhc64C-PH; K129I | Dhc64C-PI

Reported amino acid change:

K129I

Comment:

Analogous mutation in human DYNC1H1 implicated in DYNC1H1-related neurodevelopmental and neuromuscular disorders.

(Salvador-Garcia et al., 2024)
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  nervous system disease
      CEA
      (Salvador-Garcia et al., 2024)
      Modifiers Based on Experimental Evidence ( 0 )
      Disease
      Interaction
      References
      Comments on Models/Modifiers Based on Experimental Evidence ( 0 )
       
      Disease-implicated variant(s)
       
      This allele represents a human variant implicated in disease.
      (Salvador-Garcia et al., 2024)
      DYNC1H1:p.Lys129Ile
      (FlyBase curators, 2019-)
      Variants Synonym(s)
      Associated human disease model(s)
      External database links
      ClinVar: 2664467
      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 (2)
      Reported As
      Symbol Synonym
      Dhc64CK129I
      K129I
      (Salvador-Garcia et al., 2024)
      Name Synonyms
      Secondary FlyBase IDs
        References (2)