Gene Summary
IMPC Data Collections
- Body Weight Measurements
- No Embryo Imaging Data
- Viability Data
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 | ||
abnormal gait | Mfn2tm1b(EUCOMM)Wtsi | HET | Early adult | 1.96×10-05 | ||
preweaning lethality, complete penetrance | Mfn2tm1b(EUCOMM)Wtsi | HOM | Early adult | 1.79×10-06 |
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 Recessive, Type 2A2B | Difficulty walking | OMIM:617087 | |
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 | |
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy | Steppage gait | OMIM:601152 |
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 IV, Decreased activity of mitochondrial complex I | OMIM:618952 | |
Combined Oxidative Phosphorylation Deficiency 38 | Decreased activity of mitochondrial ATP synthase complex, Decreased activity of mitochondrial com... | OMIM:618378 | |
Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance | Increased mitochondrial number | ORPHA:457050 | |
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 | |
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 III, Decreased activity of mitochondrial complex IV, ... | OMIM:500013 | |
Mitochondrial Phosphate Carrier Deficiency | Abnormal mitochondrial shape | OMIM:610773 | |
Spastic Paraplegia Type 7 | Abnormal mitochondrial morphology | ORPHA:99013 | |
Frontotemporal Dementia With Motor Neuron Disease | Abnormal mitochondrial morphology | ORPHA:275872 | |
Combined Oxidative Phosphorylation Deficiency 18 | Decreased activity of mitochondrial complex I, Increased mitochondrial number | OMIM:615578 | |
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome | Abnormality of the mitochondrion | ORPHA:91130 | |
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect | Abnormality of the mitochondrion | ORPHA:330050 | |
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome | Decreased mitochondrial number | ORPHA:352447 | |
Barth Syndrome | Abnormal mitochondrial morphology | OMIM:302060 | |
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome | Mitochondrial hypertrophy | OMIM:619518 | |
Mitochondrial Complex I Deficiency, Nuclear Type 29 | Decreased activity of mitochondrial complex I, Mitochondrial swelling | OMIM:618250 | |
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome | Mitochondrial swelling | ORPHA:397744 | |
Multiple Symmetric Lipomatosis | Gait disturbance | ORPHA:2398 | |
Dystonia-Aphonia Syndrome | Abnormal mitochondrial shape | ORPHA:412217 | |
Combined Oxidative Phosphorylation Deficiency 19 | Mitochondrial swelling | OMIM:615595 | |
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect | Abnormal mitochondrial shape | ORPHA:485421 | |
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency | Increased mitochondrial number | ORPHA:263297 | |
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria | Decreased activity of mitochondrial complex III, Decreased activity of mitochondrial complex IV, ... | ORPHA:17 | |
Optic Atrophy-Ataxia-Peripheral Neuropathy-Global Developmental Delay Syndrome | Abnormal mitochondrial shape | ORPHA:543470 | |
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B | Difficulty walking | OMIM:617087 | |
Mitochondrial Neurogastrointestinal Encephalomyopathy | Abnormality of the mitochondrion | ORPHA:298 | |
Peroxisome Biogenesis Disorder 2A (Zellweger) | Abnormality of the mitochondrion, Intrauterine growth retardation | OMIM:214110 | |
Sialuria | Abnormality of the mitochondrion | ORPHA:3166 | |
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 | |
Autosomal Dominant Progressive External Ophthalmoplegia | Abnormality of the mitochondrion | ORPHA:254892 | |
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy | Steppage gait | OMIM:601152 |
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.
This service may be affected by the Covid-19 pandemic. See how
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 |
Get highlights of the most important data releases, news and events, delivered straight to your email inbox
Subscribe to newsletter