Symbol Name ID |
Col2a1
collagen, type II, alpha 1 MGI:88452 |
Darker colors indicate more annotations |
Human Phenotypes | Abnormality of the nervous system |
Cervical myelopathy |
Spinal cord compression |
Hemiplegia/hemiparesis |
Intellectual disability |
Gait disturbance |
Antalgic gait |
Waddling gait |
Motor delay |
Delayed gross motor development |
Disease(s) Associated with COL2A1 | ||||||||||
Kniest dysplasia | ||||||||||
multiple epiphyseal dysplasia with myopia and deafness | ||||||||||
myopia | ||||||||||
spondyloepimetaphyseal dysplasia, Strudwick type | ||||||||||
spondyloepiphyseal dysplasia congenita | ||||||||||
spondyloepiphyseal dysplasia Stanescu type | ||||||||||
Stickler syndrome | ||||||||||
Stickler syndrome 1 | ||||||||||
Torrance type platyspondylic dysplasia |
Mouse Phenotypes | seizures |
abnormal neural tube morphology |
abnormal brain development |
abnormal forebrain development |
holoprosencephaly |
abnormal forebrain morphology |
abnormal diencephalon morphology |
abnormal cranial ganglia morphology |
|
Availability | Mouse Genotype | ||||||||
Col2a1sedc/Col2a1sedc | |||||||||
Col2a1tm1.1Ksec/Col2a1tm1.1Ksec | |||||||||
Col2a1tm1.1Ksec/Col2a1+ |
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO) |
||
Citing These Resources Funding Information Warranty Disclaimer, Privacy Notice, Licensing, & Copyright Send questions and comments to User Support. |
last database update 08/02/2024 MGI 6.24 |
|
|