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Symbol
Name
ID

Col6a1
collagen, type VI, alpha 1
MGI:88459

Phenotype annotations related to muscle

*	Aspects of the system are reported to show a normal phenotype.
	Darker colors indicate more annotations

Human Phenotypes

Facial palsy

Congenital muscular torticollis

Torticollis

Camptodactyly of finger

Ankle flexion contracture

Limb-girdle muscle weakness

Elbow flexion contracture

Flexion contracture

Neonatal hypotonia

Distal muscle weakness

Proximal muscle weakness

Respiratory insufficiency due to muscle weakness

Reduced muscle collagen VI

Type 1 muscle fiber predominance

Increased variability in muscle fiber diameter

Muscle fiber necrosis

Skeletal muscle atrophy

Generalized amyotrophy

Muscular dystrophy

Myopathy

Disease(s) Associated with COL6A1

Bethlem myopathy

Ullrich congenital muscular dystrophy

Mouse Phenotypes

muscle phenotype

skeletal muscle necrosis

abnormal muscle morphology

abnormal muscle development

abnormal skeletal muscle fiber morphology

increased variability of skeletal muscle fiber size

centrally nucleated skeletal muscle fibers

decreased skeletal muscle fiber number

abnormal skeletal muscle morphology

abnormal diaphragm morphology

abnormal intercostal muscle morphology

decreased skeletal muscle size

decreased skeletal muscle mass

skeletal muscle endomysial fibrosis

impaired skeletal muscle contractility

muscle weakness

myopathy

Availability

Mouse Genotype

Col6a1^tm1Gmb/Col6a1^tm1Gmb

*

Col6a1^tm1Sngi/Col6a1^tm1Sngi

Col6a1^tm1Gmb/Col6a1⁺

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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