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Symbol
Name
ID
Mfn2
mitofusin 2
MGI:2442230
Phenotype annotations related to nervous system
Darker colors indicate more annotations
Human Phenotypes
Areflexia of lower limbs
Absent patellar reflexes
Absent Achilles reflex
Frequent falls
Sensory axonal neuropathy
Hydrocephalus
Abnormal spinal cord morphology
Poor fine motor coordination
Postural tremor
Hand tremor
Vocal cord paralysis
Babinski sign
Restless legs
Inability to walk by childhood/adolescence
Steppage gait
Somatic sensory dysfunction
Impaired pain sensation
Impaired temperature sensation
Paresthesia
Distal sensory impairment
Impaired vibratory sensation
Disease(s) Associated with MFN2
Charcot-Marie-Tooth disease type 2A2A

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)
En1tm2(cre)Wrst/En1+
Mfn2tm1Dcc/Mfn2tm3Dcc  (conditional)
Mfn2tm1Dcc/Mfn2tm3Dcc
H2az2Tg(Wnt1-cre)11Rth/H2az2+  (conditional)
Meox2tm1(cre)Sor/Meox2+
Mfn2tm1Dcc/Mfn2tm3Dcc  (conditional)
Mfn2tm1Dcc/Mfn2tm3Dcc
Tg(Pcp2-cre)2Mpin/0  (conditional)

Contributing Projects:
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
07/02/2024
MGI 6.13
The Jackson Laboratory