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Symbol
Name
ID

Col2a1
collagen, type II, alpha 1
MGI:88452

Phenotype annotations related to vision/eye

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

Human Phenotypes

Astigmatism

Cataract

Presenile cataracts

Ectopia lentis

Lattice retinal degeneration

Retinal detachment

Retinal hole

Retinal thinning

Abnormal vitreous humor morphology

Asteroid hyalosis

Membranous vitreous appearance

Vitreoretinopathy

Uveitis

Hypertelorism

Proptosis

Abnormally large globe

Increased axial length of the globe

Strabismus

Myopia

High myopia

Visual impairment

Reduced visual acuity

Blindness

Visual loss

Glaucoma

Disease(s) Associated with COL2A1

achondrogenesis type II

Kniest dysplasia

multiple epiphyseal dysplasia with myopia and deafness

myopia

spondyloepimetaphyseal dysplasia, Strudwick type

spondyloepiphyseal dysplasia congenita

spondyloperipheral dysplasia

Stickler syndrome

Stickler syndrome 1

Mouse Phenotypes		vision/eye phenotype	abnormal anterior eye segment morphology	abnormal ciliary process morphology	abnormal lens morphology	abnormal eye development	abnormal optic vesicle formation	cyclopia	enophthalmos	abnormal posterior eye segment morphology	disorganized retina layers
Availability	Mouse Genotype	vision/eye phenotype	abnormal anterior eye segment morphology	abnormal ciliary process morphology	abnormal lens morphology	abnormal eye development	abnormal optic vesicle formation	cyclopia	enophthalmos	abnormal posterior eye segment morphology	disorganized retina layers
	Col2a1^sedc/Col2a1^sedc
	Col2a1^tm1.1Ksec/Col2a1^tm1.1Ksec
	Col2a1^tm1Prc/Col2a1^tm1Prc	*
	Col2a1^tm1.1Ksec/Col2a1⁺
	Col2a1^tm1Prc/Col2a1⁺	*

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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