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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	Torticollis	Limb-girdle muscular dystrophy	Muscle weakness	Myotonia	Central core regions in muscle fibers	Muscular dystrophy	Myopathy
Disease(s) Associated with COL6A3	Torticollis	Limb-girdle muscular dystrophy	Muscle weakness	Myotonia	Central core regions in muscle fibers	Muscular dystrophy	Myopathy
dystonia 27
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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