Symbol Name ID |
Slc12a2
solute carrier family 12, member 2 MGI:101924 |
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 |
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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) |
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Slc12a2tm1.1Jheb/Slc12a2tm1.1Jheb Tbx1tm6(cre)Bld/Tbx1+ Tg(Pax2-cre)1Akg/0 (conditional) |
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 |
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