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Symbol
Name
ID
Kmt2d
lysine (K)-specific methyltransferase 2D
MGI:2682319
Phenotype annotations related to cardiovascular system
*Aspects of the system are reported to show a normal phenotype.
Darker colors indicate more annotations
Human Phenotypes
Pulmonic stenosis
Abnormality of cardiovascular system morphology
Atrial septal defect
Abnormal cardiac septum morphology
Ventricular septal defect
Atrioventricular canal defect
Coarctation of aorta
Disease(s) Associated with KMT2D
Kabuki syndrome

Mouse Phenotypes
cardiovascular system phenotype
thin myocardium compact layer
persistent truncus arteriosis
abnormal fetal cardiomyocyte morphology
abnormal heart tube morphology
abnormal interventricular septum morphology
pericardial edema
decreased fetal cardiomyocyte proliferation
abnormal heart echocardiography feature
Availability Mouse Genotype
Kmt2dtm1.1Kaig/Kmt2dtm1.1Kaig
Mesp1tm2(cre)Ysa/Mesp1+  (conditional)
Kmt2dtm1.1Kaig/Kmt2dtm1.1Kaig
Tg(Mef2c-cre)2Blk/0  (conditional)
Kmt2dtm1.1Kaig/Kmt2dtm1.1Kaig
Tg(Tnnt2-cre)5Blh/0  (conditional)
*
Kmt2dtm1.1Kaig/Kmt2d+
Tmem163Tg(ACTB-cre)2Mrt/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
10/08/2019
MGI 6.14
The Jackson Laboratory