|
Symbol Name ID |
Mfn2
mitofusin 2 MGI:2442230 |
| Darker colors indicate more annotations |
| Human Phenotypes | Anosmia |
Areflexia of lower limbs |
Absent patellar reflexes |
Absent Achilles reflex |
Abnormality of visual evoked potentials |
Spasticity |
Difficulty walking |
Frequent falls |
Basal ganglia calcification |
Cerebellar gliosis |
Decreased number of peripheral myelinated nerve fibers |
Decreased number of large peripheral myelinated nerve fibers |
Onion bulb formation |
Axonal degeneration/regeneration |
Peripheral axonal atrophy |
Peripheral axonal neuropathy |
Sensory axonal neuropathy |
Hydrocephalus |
Cerebellar atrophy |
Abnormal spinal cord morphology |
Ataxia |
Dysmetria |
Gait ataxia |
Poor fine motor coordination |
Myoclonus |
Tremor |
Intention tremor |
Postural tremor |
Hand tremor |
Vocal cord paralysis |
Vocal cord paresis |
Babinski sign |
Decreased motor nerve conduction velocity |
Decreased sensory nerve conduction velocity |
High pitched voice |
Delayed speech and language development |
Restless legs |
Mental deterioration |
Hyperreflexia |
Areflexia |
Hyporeflexia |
Inability to walk by childhood/adolescence |
Steppage gait |
Global developmental delay |
Delayed gross motor development |
Peripheral neuropathy |
Distal sensory impairment of all modalities |
Somatic sensory dysfunction |
Impaired pain sensation |
Impaired temperature sensation |
Paresthesia |
Distal sensory impairment |
Impaired vibratory sensation |
Positive Romberg sign |
| 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 neuron mitochondrial morphology |
increased neuron apoptosis |
abnormal substantia nigra pars compacta morphology |
abnormal cerebellum morphology |
Purkinje cell degeneration |
abnormal Purkinje cell dendrite morphology |
small cerebellum |
abnormal innervation |
abnormal motor neuron morphology |
abnormal axon morphology |
abnormal neuron physiology |
abnormal axonal transport |
|
| Availability | Mouse Genotype | ||||||||||||
| Mfn2tm1.1Balo/Mfn2tm1.1Balo | |||||||||||||
| Mfn2tm2Dcc/Mfn2tm2Dcc | |||||||||||||
| Tg(Mnx1-Mfn2*T105M,-EGFP)1Dcc/Tg(Mnx1-Mfn2*T105M,-EGFP)1Dcc | |||||||||||||
| Mfn2tm1.1Arte/Mfn2tm1.1Arte Slc6a3tm1(cre)Lrsn/Slc6a3+ (conditional) |
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| En1tm2(cre)Wrst/En1+ Mfn2tm1Dcc/Mfn2tm3Dcc (conditional) |
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| Mfn2tm1Dcc/Mfn2tm3Dcc H2az2Tg(Wnt1-cre)11Rth/H2az2+ (conditional) |
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| Meox2tm1(cre)Sor/Meox2+ Mfn2tm1Dcc/Mfn2tm3Dcc (conditional) |
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| Mfn2tm1Dcc/Mfn2tm3Dcc Tg(Pcp2-cre)2Mpin/0 (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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