FlyBase Allele Report: Dmel\Marf[R94Qlike.UAS]

General Information

Symbol

Dmel\Marf^R94Qlike.UAS

Species

D. melanogaster

Name

FlyBase ID

FBal0344037

Feature type

allele

Associated gene

Dmel\Marf

Associated Insertion(s)

Carried in Construct

P{UAS-Marf.R94Qlike}

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.R94Qlike}

Cytology

Description

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.

(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:6,367,455..6,367,455 [+]

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.

(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 NOT exacerbated by Drp1^{K38A.UAS.Tag:HA}

(El Fissi et al., 2018)

is NOT ameliorated by Drp1^UAS.Tag:HA

(El Fissi et al., 2018)

is NOT 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.Arg94Gln

(FlyBase curators, 2019-)

Variants Synonym(s)

Associated human disease model(s)

External database links

ClinVar: MFN2_2268

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^R94Qlike.UAS under the control of Scer\GAL4^elav.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\GAL4^VGlut-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.

(El Fissi et al., 2018)

External Data

Linkouts

Interactions

Show genetic interaction network for Enhancers & Suppressors

Phenotypic Class

NOT Enhanced by

Statement

Reference

Marf^R94Qlike.UAS, Scer\GAL4^elav.PU has abnormal locomotor behavior | adult stage phenotype, non-enhanceable by Drp1^UAS.Tag:HA, Scer\GAL4^elav.PU

(El Fissi et al., 2018)

Marf^R94Qlike.UAS, Scer\GAL4^VGlut1-OK371 has abnormal size | larval stage phenotype, non-enhanceable by Scer\GAL4^elav.PU/Drp1^UAS.Tag:HA