Symbol
Name
ID

Vcp
valosin containing protein
MGI:99919

Phenotype annotations related to muscle

Darker colors indicate more annotations

Human Phenotypes

Facial palsy

Distal lower limb muscle weakness

Hand muscle atrophy

Weakness of the intrinsic hand muscles

Scapular winging

Shoulder girdle muscle weakness

Proximal muscle weakness in upper limbs

Limb muscle weakness

Foot dorsiflexor weakness

Lower limb muscle weakness

Proximal muscle weakness in lower limbs

Quadriceps muscle weakness

Pelvic girdle amyotrophy

Shoulder girdle muscle atrophy

Pelvic girdle muscle weakness

Distal upper limb muscle weakness

Spasticity

Lower limb spasticity

EMG abnormality

EMG: chronic denervation signs

Difficulty climbing stairs

Difficulty running

Difficulty walking

Frequent falls

Muscle spasm

Muscle weakness

Distal muscle weakness

Progressive proximal muscle weakness

Proximal muscle weakness

Pelvic girdle muscle atrophy

Abnormal muscle fiber morphology

Type 1 muscle fiber predominance

Increased variability in muscle fiber diameter

Ragged-red muscle fibers

Rimmed vacuoles

Skeletal muscle atrophy

Distal amyotrophy

Generalized amyotrophy

Myopathy

Inflammatory myopathy

Disease(s) Associated with VCP

Charcot-Marie-Tooth disease type 2Y

frontotemporal dementia and/or amyotrophic lateral sclerosis 6

inclusion body myopathy with early-onset Paget disease of bone with or without frontotemporal dementia 1

inclusion body myositis

Mouse Phenotypes

skeletal muscle fiber necrosis

abnormal sarcomere morphology

abnormal skeletal muscle fiber morphology

increased variability of skeletal muscle fiber size

centrally nucleated skeletal muscle fibers

abnormal skeletal muscle morphology

decreased skeletal muscle mass

skeletal muscle endomysial fibrosis

muscle weakness

progressive muscle weakness

myopathy

Availability

Mouse Genotype

Vcp^tm1Itl/Vcp^tm1Itl

Vcp^tm1Itl/Vcp⁺

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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