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Symbol
Name
ID
Slc12a2
solute carrier family 12, member 2
MGI:101924
Phenotype annotations related to hearing/vestibular/ear
Darker colors indicate more annotations
Human Phenotypes
Profound sensorineural hearing impairment
Disease(s) Associated with SLC12A2
autosomal dominant nonsyndromic deafness 78

Mouse Phenotypes
abnormal ear morphology
abnormal inner ear morphology
abnormal cochlea morphology
abnormal Boettcher cell morphology
abnormal Reissner membrane morphology
collapsed Reissner membrane
absent cochlear hair cells
decreased cochlear inner hair cell number
decreased cochlear outer hair cell number
abnormal cochlear inner hair cell morphology
abnormal scala media morphology
abnormal organ of Corti morphology
abnormal organ of Corti supporting cell morphology
absent organ of Corti supporting cells
abnormal patterning of the organ of Corti
absent tunnel of Corti
abnormal type II spiral ligament fibrocytes
abnormal type IV spiral ligament fibrocytes
abnormal stria vascularis morphology
abnormal strial marginal cell morphology
abnormal tectorial membrane morphology
absent scala media
abnormal interdental cell morphology
abnormal semicircular canal morphology
abnormal crista ampullaris morphology
abnormal inner ear vestibule morphology
utricular degeneration
vestibular saccular degeneration
abnormal membranous labyrinth morphology
abnormal sulcus ampullaris morphology
abnormal ear physiology
abnormal hearing physiology
abnormal auditory brainstem response
increased or absent threshold for auditory brainstem response
impaired hearing
deafness
Availability Mouse Genotype
Slc12a2K842*/Slc12a2K842*
Slc12a2mpc246H/Slc12a2mpc246H
Slc12a2sy-ns/Slc12a2sy-ns
Slc12a2tm1Bhk/Slc12a2tm1Bhk
Slc12a2tm1Dlp/Slc12a2tm1Dlp
Slc12a2tm1Ges/Slc12a2tm1Ges
Slc12a2tm2Bhk/Slc12a2tm2Bhk
Slc12a2tm1.1Jheb/Slc12a2tm1.1Jheb
Foxg1tm1(cre)Skm/Foxg1+  (conditional)
Slc12a2tm1.1Jheb/Slc12a2tm1.1Jheb
Tbx1tm6(cre)Bld/Tbx1+
Tg(Pax2-cre)1Akg/0  (conditional)

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