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Symbol
Name
ID

Col2a1
collagen, type II, alpha 1
MGI:88452

Phenotype annotations related to nervous system

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	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
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	seizures	abnormal neural tube morphology	abnormal brain development	abnormal forebrain development	holoprosencephaly	abnormal forebrain morphology	abnormal diencephalon morphology	abnormal cranial ganglia morphology
	Col2a1^sedc/Col2a1^sedc
	Col2a1^tm1.1Ksec/Col2a1^tm1.1Ksec
	Col2a1^tm1.1Ksec/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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