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Symbol
Name
ID

Pmp22
peripheral myelin protein 22
MGI:97631

Phenotype annotations related to muscle

Darker colors indicate more annotations

Human Phenotypes

Calf muscle hypertrophy

Calf muscle hypoplasia

Peroneal muscle atrophy

Distal lower limb muscle weakness

Peroneal muscle weakness

Hand muscle atrophy

Thenar muscle atrophy

Hand muscle weakness

Thenar muscle weakness

Limb muscle weakness

Foot dorsiflexor weakness

Joint contracture of the hand

Hypotonia

Difficulty walking

Cold-induced muscle cramps

Muscle weakness

Ankle weakness

Diaphragmatic weakness

Distal muscle weakness

Proximal muscle weakness

Skeletal muscle atrophy

Distal amyotrophy

Distal lower limb amyotrophy

Disease(s) Associated with PMP22

Charcot-Marie-Tooth disease type 1A

Charcot-Marie-Tooth disease type 1E

Charcot-Marie-Tooth disease type 3

hereditary neuropathy with liability to pressure palsies

Mouse Phenotypes		muscle degeneration	muscle weakness
Availability	Mouse Genotype	muscle degeneration	muscle weakness
	Pmp22^tm1Lnot/Pmp22^tm1Lnot
	Pmp22^Tr-J/Pmp22⁺

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)
Citing These Resources Funding Information Warranty Disclaimer, Privacy Notice, Licensing, & Copyright Send questions and comments to User Support.	last database update 04/16/2024 MGI 6.23