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Gene: Mfn2 MGI:2442230

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Gene Summary

Name:
mitofusin 2
Synonyms:
Fzo,  hypertension related protein 1,  D630023P19Rik

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IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

Phenotype System Allele Zyg Sex Life Stage P Value
decreased lean body mass Mfn2tm1b(EUCOMM)Wtsi HET Early adult 7.17×10-05
preweaning lethality, complete penetrance Mfn2tm1b(EUCOMM)Wtsi HOM   Early adult 1.79×10-06
abnormal gait Mfn2tm1b(EUCOMM)Wtsi HET Early adult 1.96×10-05

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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Electrocardiogram (ECG)

Waveform Image

28 Images

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Human diseases caused by Mfn2 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

The table below shows human diseases associated to Mfn2 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Multiple Symmetric Lipomatosis
Gait disturbance ORPHA:2398
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A
Steppage gait OMIM:609260
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2
Inability to walk by childhood/adolescence, Steppage gait ORPHA:99947
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B
Difficulty walking OMIM:617087
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy
Steppage gait OMIM:601152
Lipomatosis, Multiple Symmetric, With Or Without Axonal Peripheral Neuropathy
OMIM:151800

The table below shows human diseases predicted to be associated to Mfn2 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Hyperlysinemia Due To Defect In Lysine Transport Into Mitochondria
Mitochondrial lysine transport defect OMIM:238710
Psychogenic Movement Disorders
Gait disturbance ORPHA:71519
Benign Hereditary Chorea
Gait disturbance ORPHA:1429
Barth Syndrome
Abnormal mitochondrial morphology ORPHA:111
Tricarboxylic Acid Cycle, Defect Of
Decreased activity of the pyruvate dehydrogenase complex OMIM:275370
Combined Oxidative Phosphorylation Deficiency 46
Decreased activity of mitochondrial complex I, Decreased activity of mitochondrial complex IV OMIM:618952
Combined Oxidative Phosphorylation Deficiency 38
Decreased activity of mitochondrial ATP synthase complex, Decreased activity of mitochondrial com... OMIM:618378
Mosaic Variegated Aneuploidy Syndrome 4
Abnormality of chromosome stability OMIM:620153
Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance
Increased mitochondrial number ORPHA:457050
Mitochondrial Complex Iv Deficiency, Nuclear Type 19
Increased mitochondrial number, Decreased activity of mitochondrial complex IV OMIM:619063
Fraxf Syndrome
Folate-dependent fragile site at Xq28 ORPHA:100974
Dna2-Related Mitochondrial Dna Deletion Syndrome
Decreased mitochondrial number ORPHA:352470
Hsd10 Mitochondrial Disease
Abnormal mitochondrial morphology OMIM:300438
Charcot-Marie-Tooth Disease, Axonal, Mitochondrial Form, 1
Decreased activity of mitochondrial complex I, Mitochondrial hypertrophy, Decreased activity of m... OMIM:500013
Mitochondrial Phosphate Carrier Deficiency
Abnormal mitochondrial shape OMIM:610773
Spastic Paraplegia Type 7
Abnormal mitochondrial morphology ORPHA:99013
Combined Oxidative Phosphorylation Deficiency 18
Decreased activity of mitochondrial complex I, Increased mitochondrial number OMIM:615578
Frontotemporal Dementia With Motor Neuron Disease
Abnormal mitochondrial morphology ORPHA:275872
Muscular Dystrophy, Congenital, Megaconial Type
Mitochondrial hypertrophy OMIM:602541
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Decreased mitochondrial number ORPHA:352447
Scleroderma, Familial Progressive
Chromosome breakage, Abnormality of chromosome stability OMIM:181750
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome
Mitochondrial hypertrophy OMIM:619518
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome
Mitochondrial swelling ORPHA:397744
Barth Syndrome
Abnormal mitochondrial morphology OMIM:302060
Mitochondrial Complex I Deficiency, Nuclear Type 29
Decreased activity of mitochondrial complex I, Mitochondrial swelling OMIM:618250
Multiple Symmetric Lipomatosis
Gait disturbance ORPHA:2398
Dystonia-Aphonia Syndrome
Abnormal mitochondrial shape ORPHA:412217
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Abnormal mitochondrial shape ORPHA:485421
Combined Oxidative Phosphorylation Deficiency 19
Mitochondrial swelling OMIM:615595
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency
Increased mitochondrial number ORPHA:263297
Optic Atrophy-Ataxia-Peripheral Neuropathy-Global Developmental Delay Syndrome
Abnormal mitochondrial shape ORPHA:543470
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Decreased activity of mitochondrial complex I, Decreased activity of mitochondrial complex IV, Ab... ORPHA:17
Fumarase Deficiency
Mitochondrial swelling, Decreased fumarate hydratase activity OMIM:606812
Oxoglutaric Aciduria
Abnormality of Krebs cycle metabolism ORPHA:31
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A
Steppage gait OMIM:609260
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2
Inability to walk by childhood/adolescence, Steppage gait ORPHA:99947
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B
Difficulty walking OMIM:617087
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy
Steppage gait OMIM:601152
Lipomatosis, Multiple Symmetric, With Or Without Axonal Peripheral Neuropathy
OMIM:151800

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Mfn2

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Mfn2.

No publications found that use IMPC mice or data for Mfn2.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Mfn2tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Mfn2tm1b(EUCOMM)Wtsi Reporter-tagged deletion allele (with selection cassette) Mice

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