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 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 |
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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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