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Name
ID

Pmp22
peripheral myelin protein 22
MGI:97631

Phenotype annotations related to nervous system

Darker colors indicate more annotations

Human Phenotypes

Tongue fasciculations

Areflexia of lower limbs

Hyporeflexia of lower limbs

Hyporeflexia of upper limbs

Increased CSF protein concentration

Difficulty walking

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

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

Availability

Mouse Genotype

Pmp22^tm1Lnot/Pmp22^tm1Lnot

Pmp22^tm1Ueli/Pmp22^tm1Ueli

Pmp22^Tr-Ncnp/Pmp22^Tr-Ncnp

Pmp22^Tr/Pmp22^Tr

Pmp22^tm1Lnot/Pmp22⁺

Pmp22^tm1Ueli/Pmp22⁺

Pmp22^Tr-1H/Pmp22⁺

Pmp22^Tr-2H/Pmp22⁺

Pmp22^Tr-2J/Pmp22⁺

Pmp22^Tr-3H/Pmp22⁺

Pmp22^Tr-J/Pmp22⁺

Pmp22^Tr-Ncnp/Pmp22⁺

Pmp22^Tr/Pmp22⁺

Tg(Pmp22)247Ueli/0

Tg(Pmp22)My41Clh/0

Tg(PMP22-tTA)JY13Clh/0
Tg(tetO/CMV-Pmp22)JP18Clh/0

Pmp22^Tr-J/?

Pmp22^Tr/?

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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