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General Information
Symbol
Hsap\DNM1LA395D.UAS
Species
H. sapiens
Name
FlyBase ID
FBal0320376
Feature type
allele
Associated gene
Associated Insertion(s)
Carried in Construct
Allele class
Nature of the Allele
Allele class
Mutations Mapped to the Genome
 
Type
Location
Additional Notes
References
Associated Sequence Data
DNA sequence
Protein sequence
 
 
Progenitor genotype
Carried in construct
Cytology
Nature of the lesion
Statement
Reference

UASt regulatory sequences drive expression of Hsap\DNM1L carrying the A395D amino acid replacement identified in whole exome sequencing of an individual with a lethal encephalopathy due to defective mitochondrial and peroxisomal fission (OMIM:614388).

Allele components
Product class / Tool use(s)
Encoded product / tool
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 ( 0 )
Disease
Interaction
References
Comments on Models/Modifiers Based on Experimental Evidence ( 0 )
 
Phenotypic Data
Phenotypic Class
Phenotype Manifest In
Detailed Description
Statement
Reference

Expression of Hsap\DNM1LA395D.Scer\UAS under the control of either Scer\GAL4Act5C.PI or Scer\GAL4Mef2.PU causes lethality.

Expression of Hsap\DNM1LA395D.Scer\UAS under the control of Scer\GAL4Act5C.PI results in increased peroxisome size and decreased number of peroxisomes per cell in the salivary glands of third instar larvae compared to controls. Expression under Scer\GAL4Mef2.PU causes defects in mitochondria morphology in third instar larval muscles compared to wild-type.

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

The lethality of Drp11/Drp12 transheterozygotes is not rescued by expression of Hsap\DNM1LA395D.Scer\UAS under the control of Scer\GAL4da.PU in the mutant background.

Expression of Hsap\DNM1LA395D.Scer\UAS under the control of either Scer\GAL4Act5C.PI or Scer\GAL4Mef2.PU causes lethality when expressed in sensitised Drp11/+ background.

Expression of Hsap\DNM1LA395D.Scer\UAS under the control of Scer\GAL4Mef2.PU in sensitised Drp11/+ background causes mitochondria morphological defects (large blocks of interconnected mitochondria) as well as defects in their distribution, leading to decreased number of mitochondria per sarcomere or per muscle area in third instar larval muscles. Expression under the control of Scer\GAL4Toll-6-D42 also leads to mitochondria trafficking defects in the ventral nerve cord, axons and synaptic boutons in third instar larvae. The number of mitochondria per axon area or per bouton is significantly decreased compared to controls.

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 (3)
Reported As
Symbol Synonym
DNM1L(A395D)
Hsap\DNM1LA395D.Scer\UAS
Hsap\DNM1LA395D.UAS
Name Synonyms
Secondary FlyBase IDs
    References (2)