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Symbol
Name
ID
Kmt2d
lysine (K)-specific methyltransferase 2D
MGI:2682319
Phenotype annotations related to hearing/vestibular/ear
Darker colors indicate more annotations
Human Phenotypes
Recurrent otitis media
Conductive hearing impairment
Low-set ears
Posteriorly rotated ears
Cupped ear
Macrotia
Protruding ear
Sensorineural hearing impairment
Hearing impairment
Disease(s) Associated with KMT2D
Kabuki syndrome

Mouse Phenotypes
abnormal ear shape
abnormal inner ear canal morphology
Availability Mouse Genotype
Kmt2dGt(RRT024)Byg/Kmt2d+
H2az2Tg(Wnt1-cre)11Rth/H2az2+
Kmt2dtm2.1Kaig/Kmt2d+  (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
04/23/2024
MGI 6.23
The Jackson Laboratory