FB2024_03 , released June 25, 2024
Allele: Dmel\Hsp67BcR126N.UASp.Venus
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General Information
Symbol
Dmel\Hsp67BcR126N.UASp.Venus
Species
D. melanogaster
Name
FlyBase ID
FBal0343936
Feature type
allele
Associated gene
Dmel\Hsp67Bc
Associated Insertion(s)
Carried in Construct
P{UASp-Hsp67Bc.R126N.Venus}
Key Links
Genomic Maps

Transgenic product class
missense_variant
(Jabłońska et al., 2018)
Mutagen
Nature of the Allele
Transgenic product class
missense_variant
(Jabłońska et al., 2018)
Mutagen
in vitro construct
(Jabłońska et al., 2018)
Progenitor genotype
Carried in construct
P{UASp-Hsp67Bc.R126N.Venus}
Cytology
Description

UASp regulatory sequences drive expression of Hsp67Bc cDNA with a R126N mutation (R126 is a potential pathogenic hot-spot residue corresponding to K141 in Hsap\HSPB8); tagged with Venus.

(Jabłońska et al., 2018)
Allele components
Component
Use(s)
Regulatory region(s)
UASp
Encoded product / tool
Hsp67Bc
Tagged with
Venus
Mutations Mapped to the Genome
Curation Data
Type
Location
Additional Notes
References
point_mutation
3L:9,371,941..9,371,942 [-]
Nucleotide change:

CG9371942AA

Reported nucleotide change:

CGC>AAC

Amino acid change:

R126N | Hsp67Bc-PA

Reported amino acid change:

R126N

Comment:

Analogous K141N mutation in human HSPB8 implicated in neuronopathy; mutation carried on in vitro construct.

(Jabłońska et al., 2018)
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  Charcot-Marie-Tooth disease axonal type 2L
      CEA
      (Jabłońska et al., 2018)
      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.
      (Jabłońska et al., 2018)
      HSPB8:p.Lys141Asn
      (FlyBase curators, 2019-)
      Variants Synonym(s)
      Associated human disease model(s)
      External database links
      ClinVar: HSPB8_2617ClinVar: HSPB8_2619
      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
      Hsp67BcR126N.UASp.Venus
      Name Synonyms
      Secondary FlyBase IDs
        References (2)