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Symbol
Name
ID

Col6a3
collagen, type VI, alpha 3
MGI:88461

Phenotype annotations related to muscle

Darker colors indicate more annotations

Human Phenotypes

Facial palsy

Congenital muscular torticollis

Torticollis

Camptodactyly of finger

Ankle flexion contracture

Limb-girdle muscular dystrophy

Limb-girdle muscle weakness

Elbow flexion contracture

Flexion contracture

Neonatal hypotonia

Muscle weakness

Distal muscle weakness

Proximal muscle weakness

Respiratory insufficiency due to muscle weakness

Myotonia

Reduced muscle collagen VI

Type 1 muscle fiber predominance

Increased variability in muscle fiber diameter

Central core regions in muscle fibers

Muscle fiber necrosis

Skeletal muscle atrophy

Generalized amyotrophy

Muscular dystrophy

Myopathy

Disease(s) Associated with COL6A3

Bethlem myopathy

dystonia 27

muscular dystrophy

Ullrich congenital muscular dystrophy

Mouse Phenotypes

increased collagen deposition in the muscles

abnormal muscle fiber morphology

dilated sarcoplasmic reticulum

increased variability of skeletal muscle fiber size

centrally nucleated skeletal muscle fibers

decreased skeletal muscle weight

skeletal muscle interstitial fibrosis

abnormal tendon morphology

abnormal tendon cell morphology

abnormal tendon collagen fibril morphology

abnormal muscle physiology

impaired skeletal muscle contractility

abnormal skeletal muscle regeneration

myopathy

Availability

Mouse Genotype

Col6a3^tm1Chu/Col6a3^tm1Chu

Col6a3^tm2.1Chu/Col6a3^tm2.1Chu

Col6a3^tm2.1Chu/Col6a3⁺

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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