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Symbol
Name
ID

Col12a1
collagen, type XII, alpha 1
MGI:88448

Phenotype annotations related to limbs/digits/tail

Darker colors indicate more annotations

Human Phenotypes	Camptodactyly of finger	Increased laxity of fingers	Ankle flexion contracture	Talipes equinovarus	Hip dislocation	Increased laxity of ankles	Limb-girdle muscle weakness	Elbow flexion contracture
Disease(s) Associated with COL12A1	Camptodactyly of finger	Increased laxity of fingers	Ankle flexion contracture	Talipes equinovarus	Hip dislocation	Increased laxity of ankles	Limb-girdle muscle weakness	Elbow flexion contracture
Bethlem myopathy
Ullrich congenital muscular dystrophy

Mouse Phenotypes		abnormal femur morphology	decreased diameter of femur	short femur	abnormal quadriceps morphology
Availability	Mouse Genotype
	Col12a1^tm1Debi/Col12a1^tm1Debi

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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