Symbol Name ID |
Pmp22
peripheral myelin protein 22 MGI:97631 |
Darker colors indicate more annotations |
Human Phenotypes | Tongue fasciculations |
Areflexia of lower limbs |
Decreased/absent ankle reflexes |
Hyporeflexia of lower limbs |
Hyporeflexia of upper limbs |
Increased CSF protein concentration |
Decreased number of peripheral myelinated nerve fibers |
Onion bulb formation |
Peripheral demyelination |
Segmental peripheral demyelination/remyelination |
Myelin outfoldings |
Myelin tomacula |
Demyelinating peripheral neuropathy |
Acute demyelinating polyneuropathy |
Hypertrophic nerve changes |
Axonal loss |
Tremor |
Vocal cord paralysis |
Cranial nerve paralysis |
Decreased motor nerve conduction velocity |
Decreased sensory nerve conduction velocity |
Decreased nerve conduction velocity |
Hyperactive deep tendon reflexes |
Areflexia |
Hyporeflexia |
Gait disturbance |
Broad-based gait |
Gait imbalance |
Inability to walk |
Steppage gait |
Postural instability |
Global developmental delay |
Motor delay |
Peripheral neuropathy |
Sensorimotor neuropathy |
Abnormality of pain sensation |
Spontaneous pain sensation |
Hypoesthesia |
Impaired tactile sensation |
Impaired temperature sensation |
Paresthesia |
Acroparesthesia |
Hand paresthesia |
Distal sensory impairment |
Impaired distal vibration sensation |
Impaired vibration sensation in the lower limbs |
Sensory ataxia |
Froment sign |
Disease(s) Associated with PMP22 | ||||||||||||||||||||||||||||||||||||||||||||||||
Charcot-Marie-Tooth disease type 1A | ||||||||||||||||||||||||||||||||||||||||||||||||
Charcot-Marie-Tooth disease type 1E | ||||||||||||||||||||||||||||||||||||||||||||||||
Charcot-Marie-Tooth disease type 3 | ||||||||||||||||||||||||||||||||||||||||||||||||
Guillain-Barre syndrome | ||||||||||||||||||||||||||||||||||||||||||||||||
hereditary neuropathy with liability to pressure palsies |
Mouse Phenotypes | seizures |
convulsive seizures |
increased Schwann cell proliferation |
abnormal submucous nerve plexus morphology |
abnormal Schwann cell morphology |
increased Schwann cell number |
abnormal neuron morphology |
abnormal axon morphology |
abnormal myelin sheath morphology |
decreased myelin sheath thickness |
abnormal dorsal root ganglion morphology |
axon degeneration |
abnormal Schwann cell physiology |
abnormal myelination |
demyelination |
dysmyelination |
abnormal action potential |
decreased nerve conduction velocity |
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Availability | Mouse Genotype | ||||||||||||||||||
Pmp22tm1Lnot/Pmp22tm1Lnot | |||||||||||||||||||
Pmp22tm1Ueli/Pmp22tm1Ueli | |||||||||||||||||||
Pmp22Tr-Ncnp/Pmp22Tr-Ncnp | |||||||||||||||||||
Pmp22Tr/Pmp22Tr | |||||||||||||||||||
Pmp22tm1Lnot/Pmp22+ | |||||||||||||||||||
Pmp22tm1Ueli/Pmp22+ | |||||||||||||||||||
Pmp22Tr-1H/Pmp22+ | |||||||||||||||||||
Pmp22Tr-2H/Pmp22+ | |||||||||||||||||||
Pmp22Tr-2J/Pmp22+ | |||||||||||||||||||
Pmp22Tr-3H/Pmp22+ | |||||||||||||||||||
Pmp22Tr-J/Pmp22+ | |||||||||||||||||||
Pmp22Tr-Ncnp/Pmp22+ | |||||||||||||||||||
Pmp22Tr/Pmp22+ | |||||||||||||||||||
Tg(Pmp22)247Ueli/0 | |||||||||||||||||||
Tg(Pmp22)My41Clh/0 | |||||||||||||||||||
Tg(PMP22-tTA)JY13Clh/0 Tg(tetO/CMV-Pmp22)JP18Clh/0 |
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Pmp22Tr-J/? | |||||||||||||||||||
Pmp22Tr/? |
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 09/03/2024 MGI 6.24 |
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