FlyBase Allele Report: Dmel\Marf[R364Wlike.UAS]

General Information

Symbol

Dmel\Marf^{R364Wlike.UAS}

Species

D. melanogaster

Name

FlyBase ID

FBal0344039

Feature type

allele

Associated gene

Dmel\Marf

Associated Insertion(s)

Carried in Construct

P{UAS-Marf.R364Wlike}

Key Links

Genomic Maps

JBrowse

Transgenic product class

missense_variant

(El Fissi et al., 2018)

Mutagen

in vitro construct

Nature of the Allele

Transgenic product class

missense_variant

(El Fissi et al., 2018)

Mutagen

in vitro construct

(El Fissi et al., 2018)

Progenitor genotype

Carried in construct

P{UAS-Marf.R364Wlike}

Cytology

Description

UASt regulates expression of Marf bearing a R404W mutation, equivalent to the R364W mutation in Hsap\MFN2 implicated in 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.

(El Fissi et al., 2018)

Allele components

Component

Use(s)

Regulatory region(s)

UASt

binary expression system - regulatory region

Encoded product / tool

Marf

Mutations Mapped to the Genome

Curation Data

Type

Location

Additional Notes

References

point_mutation

X:6,368,799..6,368,801 [+]

Nucleotide change:

CGC6368799TGG

Amino acid change:

R404W | Marf-PB; R404W | Marf-PC; R408W | Marf-PD

Reported amino acid change:

R404W

Comment:

Analogous R364W 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.

(El Fissi 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 type 2

CEA

(El Fissi et al., 2018)

Modifiers Based on Experimental Evidence ( 1 )

Disease

Interaction

References

model of Charcot-Marie-Tooth disease type 2

is exacerbated by Drp1^{K38A.UAS.Tag:HA}

(El Fissi et al., 2018)

is ameliorated by Drp1^UAS.Tag:HA

(El Fissi et al., 2018)

is ameliorated by Opa1^RNAi.CDS.UAS

(El Fissi et al., 2018)

Comments on Models/Modifiers Based on Experimental Evidence ( 0 )

Disease-implicated variant(s)

This allele represents a human variant implicated in disease.

(El Fissi et al., 2018)

MFN2:p.Arg364Trp

(FlyBase curators, 2019-)

Variants Synonym(s)

Associated human disease model(s)

External database links

ClinVar: MFN2_2278

Comments concerning this variant

Phenotypic Data

Phenotypic Class

abnormal locomotor behavior | adult stage, with Scer\GAL4^elav.PU

(El Fissi et al., 2018)

abnormal size | larval stage, with Scer\GAL4^elav.PU

(El Fissi et al., 2018)

abnormal size | larval stage, with Scer\GAL4^VGlut1-OK371

(El Fissi et al., 2018)

decreased cell number | adult stage, with Scer\GAL4^VGlut1-OK371

(El Fissi et al., 2018)

Phenotype Manifest In

Detailed Description

Statement

Reference

The expression of Marf^{R364Wlike.UAS} under the control of Scer\GAL4^elav.PU induces a significant effect in adult climbing ability induces bigger mitochondria in larval motor neuron cell bodies, as compared to controls.

Expression under the control of Scer\GAL4^VGlut-OK371 also leads to larval motor neuron bodies showing bigger mitochondria (i.e. significantly higher frequency of cell bodies with giant mitochondria and significantly larger average mitochondria size), which are still able to fuse and their cristae and matrix are still electron dense and not distended, and showing multi-lamellar structures evocative of autophagy, that sometimes contact or contain mitochondria, as compared to controls; their neuromuscular boutons exhibit loss of 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.

(El Fissi et al., 2018)

External Data

Linkouts

Interactions

Show genetic interaction network for Enhancers & Suppressors

Phenotypic Class

Enhanced by

Statement

Reference

Marf^{R364Wlike.UAS}, Scer\GAL4^VGlut1-OK371 has abnormal size | larval stage phenotype, enhanceable by Scer\GAL4^elav.PU/Drp1^{K38A.UAS.Tag:HA}

(El Fissi et al., 2018)

Suppressed by