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Symbol Name ID |
Ryr1
ryanodine receptor 1, skeletal muscle MGI:99659 |
| Darker colors indicate more annotations |
| Human Phenotypes | Cardiomyocyte mitochondrial proliferation |
Right ventricular dilatation |
Right ventricular hypertrophy |
Mitral valve prolapse |
Pulmonary arterial medial hypertrophy |
Pulmonary aterial intimal fibrosis |
Arterial intimal fibrosis |
Abnormal cardiovascular system physiology |
Elevated right atrial pressure |
Right ventricular failure |
Abnormally loud pulmonic component of the second heart sound |
Heart murmur |
Tricuspid regurgitation |
Hypertension |
Elevated pulmonary artery pressure |
Pulmonary arterial hypertension |
Pulmonary arterial hypertension with lack of acute response to NO challenge |
Increased pulmonary vascular resistance |
Elevated jugular venous pressure |
Palpitations |
Atrial flutter |
Supraventricular tachycardia |
Ventricular tachycardia |
Premature ventricular contraction |
First degree atrioventricular block |
Right bundle branch block |
Angina pectoris |
High-output congestive heart failure |
Syncope |
Pulmonary artery vasoconstriction |
Telangiectasia |
| Disease(s) Associated with RYR1 | |||||||||||||||||||||||||||||||
| congenital myopathy 1A | |||||||||||||||||||||||||||||||
| malignant hyperthermia | |||||||||||||||||||||||||||||||
| primary pulmonary hypertension |
| Mouse Phenotypes | abnormal coronary artery morphology |
delayed heart development |
ostium primum atrial septal defect |
ostium secundum atrial septal defect |
abnormal interventricular groove morphology |
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| Availability | Mouse Genotype | |||||
| Ryr1tm1.1Dhm/Ryr1tm1.1Dhm | ||||||
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 |
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