Gene Summary

Name:
mitofusin 1
Synonyms:
D3Ertd265e,  HR2,  6330416C07Rik,  2310002F04Rik

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

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
preweaning lethality, complete penetrance Mfn1em1(IMPC)Hmgu HOM   Early adult 7.56×10-08

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.

Phenotype associated images not available

Human diseases caused by Mfn1 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.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Mfn1 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
Barth Syndrome
Abnormal mitochondrial morphology ORPHA:111
Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance
Increased mitochondrial number, Short stature ORPHA:457050
Combined Oxidative Phosphorylation Deficiency 38
Decreased activity of mitochondrial complex IV, Abnormal mitochondrial morphology OMIM:618378
Mitochondrial Complex Iv Deficiency, Nuclear Type 19
Decreased activity of mitochondrial complex IV, Increased mitochondrial number OMIM:619063
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Abnormal mitochondrial morphology OMIM:618528
Barth Syndrome
Growth delay, Abnormal mitochondrial morphology OMIM:302060
Hsd10 Mitochondrial Disease
Abnormal mitochondrial morphology OMIM:300438
Tricarboxylic Acid Cycle, Defect Of
Decreased activity of the pyruvate dehydrogenase complex OMIM:275370
Dna2-Related Mitochondrial Dna Deletion Syndrome
Decreased mitochondrial number ORPHA:352470
Frontotemporal Dementia With Motor Neuron Disease
Abnormal mitochondrial morphology ORPHA:275872
Charcot-Marie-Tooth Disease, Axonal, Mitochondrial Form, 1
Decreased activity of mitochondrial complex IV, Mitochondrial hypertrophy, Decreased activity of ... OMIM:500013
Spastic Paraplegia Type 7
Abnormal mitochondrial morphology ORPHA:99013
Mitochondrial Phosphate Carrier Deficiency
Abnormal mitochondrial shape OMIM:610773
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Abnormality of the mitochondrion ORPHA:91130
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Delayed menarche, Abnormality of the mitochondrion ORPHA:330050
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Decreased mitochondrial number ORPHA:352447
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome
Mitochondrial hypertrophy, Short stature OMIM:619518
Cowden syndrome 3
Abnormality of mitochondrial metabolism OMIM:615106
Multiple Mitochondrial Dysfunctions Syndrome 3
Intrauterine growth retardation, Abnormality of mitochondrial metabolism OMIM:615330
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Abnormal mitochondrial shape, Growth delay ORPHA:485421
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome
Mitochondrial swelling ORPHA:397744
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome
Abnormality of mitochondrial metabolism, Short stature ORPHA:1192
Dystonia-Aphonia Syndrome
Abnormal mitochondrial shape ORPHA:412217
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Abnormal mitochondrial shape, Growth delay, Decreased activity of mitochondrial complex IV, Decre... ORPHA:17
Oxoglutaric Aciduria
Short stature, Abnormality of Krebs cycle metabolism ORPHA:31
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
Reticular Dysgenesis
Abnormality of mitochondrial metabolism ORPHA:33355
Peroxisome Biogenesis Disorder 2A (Zellweger)
Intrauterine growth retardation, Abnormality of the mitochondrion OMIM:214110
Mitochondrial Neurogastrointestinal Encephalomyopathy
Abnormality of the mitochondrion ORPHA:298
Neurodegeneration Due To 3-Hydroxyisobutyryl-Coa Hydrolase Deficiency
Abnormality of mitochondrial metabolism ORPHA:88639
Sialuria
Abnormality of the mitochondrion ORPHA:3166
Hsd10 Disease, Infantile Type
Abnormality of mitochondrial metabolism ORPHA:391428
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2
Abnormality of mitochondrial metabolism, Intrauterine growth retardation, Umbilical hernia OMIM:614052
Manganese Poisoning
Abnormality of mitochondrial metabolism ORPHA:306682
Autosomal Dominant Progressive External Ophthalmoplegia
Abnormality of the mitochondrion ORPHA:254892
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Abnormality of mitochondrial metabolism OMIM:203700
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome
Abnormality of mitochondrial metabolism ORPHA:314404
Mitochondrial Dna-Associated Leigh Syndrome
Abnormality of Krebs cycle metabolism ORPHA:255210

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 Mfn1

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 Mfn1.

No publications found that use IMPC mice or data for Mfn1.

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MGI Allele Allele Type Produced
Mfn1em1(IMPC)Hmgu Exon Deletion Mice

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