|
Symbol Name ID |
Kmt2d
lysine (K)-specific methyltransferase 2D MGI:2682319 |
| * | Aspects of the system are reported to show a normal phenotype. |
| Darker colors indicate more annotations |
| Human Phenotypes | Atrial septal defect |
Abnormal cardiac septum morphology |
Ventricular septal defect |
Atrioventricular canal defect |
Coarctation of aorta |
Pulmonic stenosis |
| Disease(s) Associated with KMT2D | ||||||
| Kabuki syndrome |
| Mouse Phenotypes | cardiovascular system phenotype |
thin myocardium compact layer |
persistent truncus arteriosus |
abnormal heart tube morphology |
abnormal interventricular septum morphology |
pericardial edema |
abnormal fetal cardiomyocyte physiology |
decreased fetal cardiomyocyte proliferation |
abnormal heart echocardiography feature |
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| Availability | Mouse Genotype | |||||||||
| Kmt2dtm1.1Kaig/Kmt2dtm1.1Kaig Mesp1tm2(cre)Ysa/Mesp1+ (conditional) |
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| Kmt2dtm1.1Kaig/Kmt2dtm1.1Kaig Tg(Mef2c-cre)2Blk/0 (conditional) |
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| Kmt2dtm1.1Kaig/Kmt2dtm1.1Kaig Tg(Tnnt2-cre)5Blh/0 (conditional) |
* | |||||||||
| Kmt2dtm1.1Kaig/Kmt2d+ Tmem163Tg(ACTB-cre)2Mrt/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 04/30/2024 MGI 6.23 |
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