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Symbol
Name
ID
Col2a1
collagen, type II, alpha 1
MGI:88452
Phenotype annotations related to hearing/vestibular/ear
Darker colors indicate more annotations
Human Phenotypes
Chronic otitis media
Recurrent otitis media
Conductive hearing impairment
Low-set ears
Sensorineural hearing impairment
Hearing impairment
Disease(s) Associated with COL2A1
Kniest dysplasia
multiple epiphyseal dysplasia with myopia and deafness
spondyloepimetaphyseal dysplasia, Strudwick type
spondyloepiphyseal dysplasia congenita
spondyloperipheral dysplasia
Stickler syndrome
Stickler syndrome 1
Torrance type platyspondylic dysplasia

Mouse Phenotypes
impaired hearing
Availability Mouse Genotype
Col2a1sedc/Col2a1sedc

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
05/07/2024
MGI 6.23
The Jackson Laboratory