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General Information
Symbol
Dmel\MarfR94Qlike.UAS
Species
D. melanogaster
Name
FlyBase ID
FBal0344037
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
point mutation
Nucleotide change:

G6367455A

Amino acid change:

R135Q | Marf-PB; R135Q | Marf-PC; R135Q | Marf-PD

Reported amino acid change:

R135Q

Comment:

Analogous R94Q mutation in human MFN2 implicated in Charcot-Marie-Tooth disease, type 2A2; mutation carried on in vitro construct; site of nucleotide substitution in fly gene inferred by FlyBase curator based on reported amino acid change.

Associated Sequence Data
DNA sequence
Protein sequence
 
 
Progenitor genotype
Carried in construct
Cytology
Nature of the lesion
Statement
Reference

UASt regulates expression of Marf bearing a R135Q mutation, equivalent to the pathogenic R94Q mutation in Hsap\MFN2 associated with Charcot-Marie-Tooth disease type 2A. The construct lacks the 5' and 3' Marf UTRs, and has only a kozak CAAA sequence added in front of the ATG.

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 )
Disease
Evidence
References
Modifiers Based on Experimental Evidence ( 1 )
Disease
Interaction
References
Comments on Models/Modifiers Based on Experimental Evidence ( 0 )
 
Phenotypic Data
Phenotypic Class
Phenotype Manifest In
Detailed Description
Statement
Reference

The expression of MarfR94Qlike.UAS under the control of Scer\GAL4elav.PU induces a significant decrease in adult climbing ability and induces bigger mitochondria in larval motor neuron cell bodies, as compared to controls.

Expression under the control of Scer\GAL4VGlut-OK371 also leads to larval motor neuron cell bodies showing bigger mitochondria, which fail to fuse although their cristae and matrix are electron dense and not distended, and showing multi-lamellar structures evocative of autophagy, that sometimes contact or contain mitochondria, as compared to controls. In adults, this expression induces a moderate decrease in the number of photoreceptor cells per ommatidia, as compared to controls.

External Data
Interactions
Show genetic interaction network for Enhancers & Suppressors
Phenotypic Class
Phenotype Manifest In
NOT Enhanced by
NOT suppressed by
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
MarfR94Qlike.UAS
Name Synonyms
Secondary FlyBase IDs
    References (2)