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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
Abnormality of the eye
Cataract
Retinal detachment
Retinal dysplasia
Retinal thinning
Abnormal vitreous humor morphology
Asteroid hyalosis
Membranous vitreous appearance
Vitreoretinopathy
Proptosis
Myopia
Blindness
Glaucoma
Disease(s) Associated with COL2A1
Kniest dysplasia
multiple epiphyseal dysplasia with myopia and deafness
spondyloepimetaphyseal dysplasia, Strudwick type
spondyloepiphyseal dysplasia congenita
Stickler syndrome

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 retinal layers
Availability Mouse Genotype
Col2a1sedc/Col2a1sedc
Col2a1tm1.1Ksec/Col2a1tm1.1Ksec
Col2a1tm1Prc/Col2a1tm1Prc *
Col2a1tm1.1Ksec/Col2a1+
Col2a1tm1Prc/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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last database update
10/08/2019
MGI 6.14
The Jackson Laboratory