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Symbol
Name
ID
Col11a2
collagen, type XI, alpha 2
MGI:88447
Phenotype annotations related to hearing/vestibular/ear
Darker colors indicate more annotations
Human Phenotypes
Mixed hearing impairment
Sensorineural hearing impairment
Disease(s) Associated with COL11A2
autosomal dominant nonsyndromic deafness 13
autosomal recessive nonsyndromic deafness 53
otospondylomegaepiphyseal dysplasia, autosomal dominant
otospondylomegaepiphyseal dysplasia, autosomal recessive

Mouse Phenotypes
abnormal tectorial membrane morphology
enlarged tectorial membrane
increased or absent threshold for auditory brainstem response
impaired hearing
nonsyndromic hearing loss
sensorineural hearing loss
Availability Mouse Genotype
Col11a2tm1Mne/Col11a2tm1Mne

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
04/16/2024
MGI 6.23
The Jackson Laboratory