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Symbol
Name
ID
Enpp1
ectonucleotide pyrophosphatase/phosphodiesterase 1
MGI:97370
Phenotype annotations related to hearing/vestibular/ear
Darker colors indicate more annotations
Human Phenotypes
Stapes ankylosis
Conductive hearing impairment
Mixed hearing impairment
Calcification of the auricular cartilage
Sensorineural hearing impairment
Hearing impairment
Disease(s) Associated with ENPP1
arterial calcification of infancy

Mouse Phenotypes
abnormal stapedial artery morphology
increased middle ear goblet cell number
abnormal round window morphology
incudomalleolar fusion
abnormal outer ear cartilage morphology
abnormal middle ear morphology
abnormal auditory tube morphology
middle ear effusion
abnormal tympanic membrane morphology
tympanic membrane retraction
middle ear polyps
increased or absent threshold for auditory brainstem response
impaired hearing
conductive hearing loss
increased susceptibility to otitis media
Availability Mouse Genotype
Enpp1asj/Enpp1asj
Enpp1ttw-Ham/Enpp1ttw-Ham

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