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Symbol
Name
ID
Col1a2
collagen, type I, alpha 2
MGI:88468
Phenotype annotations related to nervous system
Darker colors indicate more annotations
Human Phenotypes
Cerebral hemorrhage
Dysphagia
Morphological central nervous system abnormality
Brain stem compression
Hydrocephalus
Noncommunicating hydrocephalus
Ventriculomegaly
Syringomyelia
Ataxia
Tetraparesis
Trigeminal neuralgia
Cranial nerve paralysis
Anxiety
Gait disturbance
Loss of ambulation
Headache
Delayed gross motor development
Somatic sensory dysfunction
Paresthesia
Disease(s) Associated with COL1A2
Ehlers-Danlos syndrome arthrochalasia type 2
osteogenesis imperfecta

Mouse Phenotypes
abnormal optic disk morphology
Availability Mouse Genotype
Col1a2tm1b(EUCOMM)Wtsi/Col1a2tm1b(EUCOMM)Wtsi

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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Funding Information
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last database update
09/03/2024
MGI 6.24
The Jackson Laboratory