FB2024_03 , released June 25, 2024
Allele: Dmel\MhcT178I.UAS
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General Information
Symbol
Dmel\MhcT178I.UAS
Species
D. melanogaster
Name
FlyBase ID
FBal0348137
Feature type
allele
Associated gene
Dmel\Mhc
Associated Insertion(s)
Carried in Construct
P{UAS-Mhc.T178I}
Key Links
Genomic Maps

Transgenic product class
missense_variant
(Das et al., 2019)
Mutagen
Nature of the Allele
Transgenic product class
missense_variant
(Das et al., 2019)
Mutagen
in vitro construct
(Das et al., 2019)
Progenitor genotype
Carried in construct
P{UAS-Mhc.T178I}
Cytology
Description

UASt regulatory sequences drive expression of the Mhc RH59876 cDNA, that has been mutated to carry the T178I amino acid replacement. This mutation is equivalent to the T178I mutation in Hsap\MYH3 that is implicated in Freeman-Sheldon syndrome.

(Das et al., 2019)
Allele components
Component
Use(s)
Regulatory region(s)
UASt
Encoded product / tool
Mhc
Mutations Mapped to the Genome
Curation Data
Type
Location
Additional Notes
References
point_mutation
2L:16,770,641..16,770,641 [+]
Nucleotide change:

C16770641T

Reported nucleotide change:

ACC>ATC

Amino acid change:

T178I | Mhc-PA; T178I | Mhc-PB; T178I | Mhc-PC; T178I | Mhc-PD; T178I | Mhc-PE; T178I | Mhc-PF; T178I | Mhc-PG; T178I | Mhc-PH; T178I | Mhc-PI; T178I | Mhc-PK; T178I | Mhc-PL; T178I | Mhc-PM; T178I | Mhc-PN; T178I | Mhc-PO; T178I | Mhc-PP; T178I | Mhc-PQ; T178I | Mhc-PR; T178I | Mhc-PS; T178I | Mhc-PT; T178I | Mhc-PU; T178I | Mhc-PV

Reported amino acid change:

T178I

Comment:

Analogous T178I mutation in human MYH3 implicated in arthrogryposis, distal, type 2A; mutation carried on in vitro construct.

(Das et al., 2019)
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  distal arthrogryposis type 2A
      CEA with Mhc1
      (Das et al., 2019)
      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.
      (Das et al., 2019)
      MYH3:p.Thr178Ile
      (FlyBase curators, 2019-)
      Variants Synonym(s)
      Associated human disease model(s)
      External database links
      ClinVar: MYH3_14140
      Comments concerning this variant
      Phenotypic Data
      Phenotypic Class
      Phenotype Manifest In
      Detailed Description
      Statement
      Reference

      Dorsal longitudinal muscles of Mhc1/+ individuals expressing MhcT178I.UAS under the control of Scer\GAL4Mef2.PR show progressive defects: severe fiber branching and splitting defects, smaller sarcomeres (shortening of the inter-Z disc distance and narrower Z discs) and fragmented Z discs (Kettin), compared to controls. The pupal stage of these individuals takes longer than in controls. Adults show a mild reduction in climbing ability, as compared to controls.

      (Das et al., 2019)
      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
      MhcT178I.UAS
      Name Synonyms
      Secondary FlyBase IDs
        References (2)