|
Symbol Name ID |
Mfn2
mitofusin 2 MGI:2442230 |
| Darker colors indicate more annotations |
| Human Phenotypes | Macroglossia |
Paresis of extensor muscles of the big toe |
Distal lower limb muscle weakness |
Hand muscle weakness |
Triceps weakness |
Upper limb amyotrophy |
Limb muscle weakness |
Foot dorsiflexor weakness |
Quadriceps muscle weakness |
Flexion contracture |
Hypertonia |
Spasticity |
Hypotonia |
Generalized hypotonia |
EMG: chronic denervation signs |
Difficulty climbing stairs |
Difficulty running |
Difficulty walking |
Frequent falls |
Muscle spasm |
Muscle weakness |
Distal muscle weakness |
Progressive muscle weakness |
Proximal muscle weakness |
Respiratory insufficiency due to muscle weakness |
Increased variability in muscle fiber diameter |
Skeletal muscle atrophy |
Distal amyotrophy |
Distal lower limb amyotrophy |
Lower limb amyotrophy |
| Disease(s) Associated with MFN2 | ||||||||||||||||||||||||||||||
| Charcot-Marie-Tooth disease type 2A2A | ||||||||||||||||||||||||||||||
| Charcot-Marie-Tooth disease type 2A2B | ||||||||||||||||||||||||||||||
| Charcot-Marie-Tooth disease type 6 | ||||||||||||||||||||||||||||||
| multiple symmetric lipomatosis |
| Mouse Phenotypes | abnormal myocardial fiber morphology |
decreased ventricle muscle contractility |
decreased skeletal muscle size |
muscle weakness |
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| Availability | Mouse Genotype | ||||
| Tg(Mnx1-Mfn2*T105M,-EGFP)1Dcc/Tg(Mnx1-Mfn2*T105M,-EGFP)1Dcc | |||||
| Mfn2tm1.1Mzhe/Mfn2tm1.1Mzhe Myl2tm1(cre)Krc/Myl2+ (conditional) |
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Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO) |
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last database update 04/23/2024 MGI 6.23 |
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