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Symbol Name ID |
Bud23
BUD23, rRNA methyltransferase and ribosome maturation factor MGI:1913388 |
| Darker colors indicate more annotations |
| Human Phenotypes | Retinal arteriolar tortuosity |
Atrial septal defect |
Ventricular septal defect |
Bicuspid aortic valve |
Mitral valve prolapse |
Myxomatous mitral valve degeneration |
Peripheral pulmonary artery stenosis |
Coronary artery stenosis |
Renal artery stenosis |
Stroke |
Supravalvular aortic stenosis |
Mitral regurgitation |
Pulmonic stenosis |
Hypertension |
Portal hypertension |
| Disease(s) Associated with BUD23 | |||||||||||||||
| Williams-Beuren syndrome |
| Mouse Phenotypes | decreased myocardial fiber mitochondrial DNA content |
increased heart weight |
enlarged heart |
dilated heart left ventricle |
thin ventricular wall |
dilated heart ventricle |
cardiac fibrosis |
dilated cardiomyopathy |
decreased cardiac muscle contractility |
shortened QRS complex duration |
shortened QT interval |
congestive heart failure |
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| Availability | Mouse Genotype | ||||||||||||
| Bud23em2Asil/Bud23em2Asil Tg(Ckmm-cre)5Khn/0 (conditional) |
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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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