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Symbol
Name
ID

Col6a3
collagen, type VI, alpha 3
MGI:88461

Phenotype annotations related to skeleton

Darker colors indicate more annotations

Human Phenotypes

Camptodactyly of finger

Increased laxity of fingers

Ankle flexion contracture

Hip dislocation

Increased laxity of ankles

Elbow flexion contracture

Flexion contracture

Joint hypermobility

Distal joint hypermobility

Wrist hypermobility

Kyphosis

Scoliosis

Spinal rigidity

Disease(s) Associated with COL6A3

Bethlem myopathy

Ullrich congenital muscular dystrophy

Mouse Phenotypes		abnormal tendon morphology	abnormal tendon cell morphology	abnormal tendon collagen fibril morphology
Availability	Mouse Genotype	abnormal tendon morphology	abnormal tendon cell morphology	abnormal tendon collagen fibril morphology
	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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