FB2024_03 , released June 25, 2024
Allele: Mmus\DmdDp116.UAS
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General Information
Symbol
Mmus\DmdDp116.UAS
Species
M. musculus
Name
FlyBase ID
FBal0294072
Feature type
allele
Associated gene
Mmus\Dmd
Associated Insertion(s)
Carried in Construct
P{UAS-mDmd.Dp116}
Transgenic product class
inframe_deletion
(Taghli-Lamallem et al., 2014)
Mutagen
Nature of the Allele
Transgenic product class
inframe_deletion
(Taghli-Lamallem et al., 2014)
Mutagen
in vitro construct
(Taghli-Lamallem et al., 2014)
Progenitor genotype
Carried in construct
P{UAS-mDmd.Dp116}
Cytology
Description

UASt regulatory sequences drive expression of a deleted form of Mmus\Dmd which lacks the N-terminal domain and most of the rod domains (the actin-binding domains are deleted) and retains only two repeats (R23-R24) with intact cysteine-rich and C-terminal domains.

(Taghli-Lamallem et al., 2014)

UASt regulates expression of the short C-terminal isoform (Dp116) of Mmus\Dmd (containing the first exon from the human Dp116 isoform) as described in PMID:16569668. Dp116 contains two spectrins repeats, the ww domain (dystroglycan-binding domain) and a carboxy-terminal domain involved in binding to other DGC proteins like syntrophin and dystrobrevin.

(Taghli-Lamallem et al., 2008)
Allele components
Component
Use(s)
Regulatory region(s)
UASt
Encoded product / tool
Mmus\Dmd
Mutations Mapped to the Genome
Curation Data
Type
Location
Additional Notes
References
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 ( 0 )
      Disease
      Evidence
      References
      Modifiers Based on Experimental Evidence ( 0 )
      Disease
      Interaction
      References
      Comments on Models/Modifiers Based on Experimental Evidence ( 0 )
       
      Disease-implicated variant(s)
       
      Phenotypic Data
      Phenotypic Class
      Phenotype Manifest In
      Detailed Description
      Statement
      Reference

      Expressing Mmus\DmdDp116.UAS under the control of Scer\GAL4how-24B has no effect on cardiac function in adult flies.

      (Taghli-Lamallem et al., 2008)
      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

      Expression of Mmus\DmdDp116.Scer\UAS under the control of Scer\GAL4how-24B significantly decreases systolic diameter and significantly increases fractional shortening in both 1 and 5 week old Df(3R)Exel6184/Df(3R)Dl-X43 flies.

      Expression of Mmus\DmdDp116.Scer\UAS under the control of Scer\GAL4Hand.PA significantly decreases systolic diameter in 5 week old Df(3R)Exel6184/Df(3R)Dl-X43 flies and significantly increases fractional shortening in both 1 and 5 week old Df(3R)Exel6184/Df(3R)Dl-X43 flies.

      (Taghli-Lamallem et al., 2014)

      Expressing Mmus\DmdDp116.UAS under the control of Scer\GAL4how-24B rescues the increased systolic diameter and reduced fractional shortening of the heart wall in Df(3R)Dl-X43/Df(3R)Exel6184 adult flies.

      (Taghli-Lamallem et al., 2008)
      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
      Mmus\DmdDp116.Scer\UAS
      Mmus\DmdDp116.UAS
      Name Synonyms
      Secondary FlyBase IDs
        References (2)