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Gene: Myh7 MGI:2155600

Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:

myosin, heavy polypeptide 7, cardiac muscle, beta

Synonyms:

Myhc-b, MYH-beta/slow, B-MHC, Myhcb, betaMHC, MyHC-I, beta-MHC

Order Alleles

IMPC Data Collections

No Body Weight Data
No Embryo Imaging Data
No Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Phenotype associated images not available

Human diseases caused by Myh7 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

Human diseases associated with Myh7 (11 diseases)
Human diseases predicted to be associated with Myh7 (294 diseases)

The table below shows human diseases associated to Myh7 by orthology or direct annotation.

Disease	Matching phenotypes	Source
Cardiomyopathy, Familial Hypertrophic, 1	Asymmetric septal hypertrophy, Arrhythmia, Congestive heart failure	OMIM:192600
Myopathy, Myosin Storage, Autosomal Recessive	Right axis deviation, Dilated cardiomyopathy, Elevated jugular venous pressure, Right bundle bran...	OMIM:255160
Ebstein Malformation Of The Tricuspid Valve	Sudden cardiac death, Arrhythmia, Cerebral ischemia, Right bundle branch block, Atrial fibrillati...	ORPHA:1880
Cardiomyopathy, Dilated, 1S	Tricuspid regurgitation, Mitral regurgitation, Sudden cardiac death, Ventricular arrhythmia, Dila...	OMIM:613426
Classic Multiminicore Myopathy	Right ventricular failure, Congestive heart failure	ORPHA:324604
Myh7-Related Late-Onset Scapuloperoneal Muscular Dystrophy	Left anterior fascicular block, Abnormal left ventricular function, Arrhythmia, Heart murmur, Hyp...	ORPHA:437572
Familial Isolated Dilated Cardiomyopathy	Dilated cardiomyopathy	ORPHA:154
Myopathy, Distal, 1	Dilated cardiomyopathy	OMIM:160500
Myopathy, Myosin Storage, Autosomal Dominant	Hypertrophic cardiomyopathy	OMIM:608358
Laing Early-Onset Distal Myopathy	Dilated cardiomyopathy	ORPHA:59135
Scapuloperoneal Myopathy, Myh7-Related		OMIM:181430

The table below shows human diseases predicted to be associated to Myh7 by phenotypic similarity.

Disease	Matching phenotypes	Source
Cardiomyopathy, Dilated, 1Hh	Dilated cardiomyopathy, Increased left ventricular end-diastolic volume, Congestive heart failure	OMIM:613881
Cardiomyopathy, Dilated, 1Ee	Dilated cardiomyopathy, Increased left ventricular end-diastolic volume, Congestive heart failure	OMIM:613252
Cardiomyopathy, Dilated, 1Dd	Sudden cardiac death, Dilated cardiomyopathy, Congestive heart failure, Left ventricular systolic...	OMIM:613172
Cardiomyopathy, Dilated, 1P	Reduced systolic function, Dilated cardiomyopathy, Ventricular arrhythmia, Congestive heart failure	OMIM:609909
Cardiomyopathy, Dilated, 1M	Impaired myocardial contractility, Dilated cardiomyopathy, Increased left ventricular end-diastol...	OMIM:607482
Cardiomyopathy, Dilated, 1Z	Sudden cardiac death, Dilated cardiomyopathy, Congestive heart failure	OMIM:611879
Cardiomyopathy, Dilated, 1Ff	Dilated cardiomyopathy, Increased left ventricular end-diastolic volume, Congestive heart failure	OMIM:613286
Cardiomyopathy, Dilated, 1L	Reduced systolic function, Sudden cardiac death, Increased left ventricular end-diastolic volume,...	OMIM:606685
Cardiomyopathy, Dilated, 1K	Dilated cardiomyopathy, Gallop rhythm, Congestive heart failure	OMIM:605582
Cardiomyopathy, Dilated, 1J	Abnormal left ventricular function, Dilated cardiomyopathy, Congestive heart failure, Sudden card...	OMIM:605362
Cardiac Lipidosis, Familial	Cardiomyopathy, Congestive heart failure	OMIM:212080
Cardiomyopathy, Dilated, 1B	Impaired myocardial contractility, Dilated cardiomyopathy, Ventricular arrhythmia, Congestive hea...	OMIM:600884
Cardiomyopathy, Dilated, 2A	Dilated cardiomyopathy, Increased left ventricular end-diastolic volume, Congestive heart failure	OMIM:611880
Sensorineural Deafness With Dilated Cardiomyopathy	Dilated cardiomyopathy, Congestive heart failure, Abnormal cardiac ventricular function	ORPHA:217622
Left Ventricular Noncompaction 10	Increased left ventricular end-diastolic volume, Syncope, Dilated cardiomyopathy, Pulmonary arter...	OMIM:615396
Cardiomyopathy, Dilated, 1O	Impaired myocardial contractility, Dilated cardiomyopathy, Ventricular tachycardia, Congestive he...	OMIM:608569
Long Qt Syndrome 13	Torsade de pointes, Permanent atrial fibrillation, Palpitations, Pulmonary embolism, Syncope, Pro...	OMIM:613485
Cardiomyopathy, Dilated, 1Bb	Left bundle branch block, Dilated cardiomyopathy, Increased left ventricular end-diastolic volume...	OMIM:612877
Left Ventricular Noncompaction 8	Mitral regurgitation, Arrhythmia, Dilated cardiomyopathy, Left ventricular systolic dysfunction, ...	OMIM:615373
Cardiomyopathy, Dilated, 1I	Dilated cardiomyopathy, Congestive heart failure, Reduced systolic function	OMIM:604765
Cardiomyopathy, Dilated, 1U	Left bundle branch block, Increased left ventricular end-diastolic volume, Syncope, Dilated cardi...	OMIM:613694
Cardiomyopathy, Dilated, 2B	Atrial fibrillation, Dilated cardiomyopathy, Congestive heart failure	OMIM:614672
Carvajal Syndrome	Dilated cardiomyopathy, Congestive heart failure	ORPHA:65282
Cardiomyopathy, Familial Hypertrophic, 1	Asymmetric septal hypertrophy, Arrhythmia, Congestive heart failure	OMIM:192600
Cardiomyopathy, Familial Hypertrophic, 15	Apical hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy, Left ventricular outflow tract o...	OMIM:613255
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5	Prolonged QRS complex, Premature ventricular contraction, Right ventricular cardiomyopathy, Presy...	OMIM:604400
Familial Progressive Cardiac Conduction Defect	Bundle branch block, Arrhythmia, Syncope, Heart block, Congestive heart failure	ORPHA:871
Cardiomyopathy, Dilated, 1Gg	Dilated cardiomyopathy, Cardiogenic shock, Congestive heart failure	OMIM:613642
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction	Left bundle branch block, Sudden cardiac death, Ventricular arrhythmia, Increased left ventricula...	OMIM:601493
Cardiomyopathy, Dilated, 1G	Premature atrial contractions, Dilated cardiomyopathy, Ventricular tachycardia, Atrial fibrillati...	OMIM:604145
Cardiomyopathy, Dilated, 1V	Left bundle branch block, Increased left ventricular end-diastolic volume, Syncope, Dilated cardi...	OMIM:613697
Cardiomyopathy, Dilated, 1Nn	Mitral regurgitation, Abnormal ST segment, Ventricular arrhythmia, Increased left ventricular end...	OMIM:615916
Incessant Infant Ventricular Tachycardia	Bundle branch block, Wolff-Parkinson-White syndrome, Supraventricular tachycardia, Prolonged QRS ...	ORPHA:45453
Cardiomyopathy, Dilated, 1Kk	Mitral regurgitation, Increased left ventricular end-diastolic volume, Dilated cardiomyopathy, At...	OMIM:615248
Mitochondrial Complex I Deficiency, Nuclear Type 30	Neonatal death, Congestive heart failure	OMIM:301021
Cardiomyopathy, Familial Hypertrophic, 14	Left ventricular outflow tract obstruction, Ventricular tachycardia, Right bundle branch block, H...	OMIM:613251
Cardiomyopathy, Dilated, 2F	Increased left ventricular end-diastolic volume, Dilated cardiomyopathy, Ventricular fibrillation...	OMIM:619747
Cardiomyopathy, Dilated, 1R	Restrictive cardiomyopathy, Ventricular arrhythmia, Increased left ventricular end-diastolic volu...	OMIM:613424
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8	Premature ventricular contraction, Right ventricular cardiomyopathy, Sudden cardiac death, Ventri...	OMIM:607450
Hydrops Fetalis, Nonimmune	Congestive heart failure	OMIM:236750
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy	Left anterior fascicular block, Atrial arrhythmia, Premature ventricular contraction, Tachycardia...	OMIM:616117
Butyrylcholinesterase Deficiency	Myocardial infarction, Congestive heart failure	ORPHA:132
Atransferrinemia	Congestive heart failure	OMIM:209300
Arterial Calcification, Generalized, Of Infancy, 2	Myocardial infarction, Hypertension, Congestive heart failure	OMIM:614473
Cardiomyopathy, Familial Hypertrophic, 8	Restrictive cardiomyopathy, Sudden cardiac death, Palpitations, T-wave inversion, Ventricular fib...	OMIM:608751
Cardiomyopathy, Familial Hypertrophic, 6	Wolff-Parkinson-White syndrome, Prolonged QRS complex, Left bundle branch block, Atrioventricular...	OMIM:600858
Left Ventricular Noncompaction 1	Left ventricular noncompaction cardiomyopathy, Mitral regurgitation, Sudden cardiac death, Palpit...	OMIM:604169
Cardiomyopathy, Dilated, 1A	Sudden cardiac death, Ventricular arrhythmia, Third degree atrioventricular block, Dilated cardio...	OMIM:115200
Congenital Left Ventricular Aneurysm	Abnormal ST segment, Abnormal T-wave, Arrhythmia, Congestive heart failure	ORPHA:1055
Familial Dilated Cardiomyopathy	Left bundle branch block, Mitral regurgitation, Palpitations, Elevated pulmonary artery pressure,...	ORPHA:217607
Combined Oxidative Phosphorylation Deficiency 17	Hypertrophic cardiomyopathy, Congestive heart failure	OMIM:615440
Congenital Tricuspid Stenosis	Tricuspid regurgitation, Tricuspid stenosis, Hypotension, Heart murmur, Pulmonary arterial hypert...	ORPHA:95459
Sudden Cardiac Failure, Infantile	Sudden cardiac death, Myocarditis, Bradycardia, Hypertrophic cardiomyopathy, Congestive heart fai...	OMIM:617222
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome	Pulmonary embolism, Arrhythmia, Hypertension, Hypertrophic cardiomyopathy, Congestive heart failure	ORPHA:1345
Combined Oxidative Phosphorylation Deficiency 23	Arrhythmia, Cardiomyopathy, Congestive heart failure	OMIM:616198
Cardiomyopathy, Familial Hypertrophic, 11	Angina pectoris, Left anterior fascicular block, Left bundle branch block, Palpitations, Syncope,...	OMIM:612098
Atrial Standstill	Ventricular escape rhythm, Abnormal P wave, Atrial standstill, Palpitations, Mobitz I atrioventri...	ORPHA:1344
Atrial Septal Defect, Sinus Venosus Type	Supraventricular arrhythmia, Supraventricular tachycardia, Premature atrial contractions, Atrial ...	ORPHA:99105
Cardiomyopathy, Dilated, 1D	Sudden cardiac death, Increased left ventricular end-diastolic volume, Dilated cardiomyopathy, At...	OMIM:601494
Cardiomyopathy, Dilated, 1Y	Left ventricular noncompaction cardiomyopathy, Mitral regurgitation, Increased left ventricular e...	OMIM:611878
Cardiomyopathy, Familial Hypertrophic, 26	Left anterior fascicular block, Permanent atrial fibrillation, Left bundle branch block, Mitral r...	OMIM:617047
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation	Supraventricular tachycardia, Abnormal left ventricular function, Sudden cardiac death, Ventricul...	ORPHA:300751
Stuve-Wiedemann Syndrome 2	Pulmonary arterial hypertension, Stillbirth, Neonatal death, Congestive heart failure	OMIM:619751
Mitochondrial Complex I Deficiency, Nuclear Type 11	Hypertrophic cardiomyopathy, Congestive heart failure	OMIM:618234
Combined Oxidative Phosphorylation Deficiency 22	Pulmonary arterial hypertension, Congestive heart failure	OMIM:616045
Familial Cutaneous Collagenoma	Angina pectoris, Cardiomyopathy, Congestive heart failure	ORPHA:53296
Morbid Obesity And Spermatogenic Failure	Myocardial infarction, Hypertension, Congestive heart failure	OMIM:615703
Cardiomyopathy, Familial Hypertrophic 27	Cardiac arrest, Tricuspid regurgitation, Concentric hypertrophic cardiomyopathy, Mitral regurgita...	OMIM:618052
Endocardial Fibroelastosis	Restrictive cardiomyopathy, Congestive heart failure	ORPHA:2022
Sandhoff Disease	Congestive heart failure	ORPHA:796
Naxos Disease	Sudden cardiac death, Paroxysmal ventricular tachycardia, Arrhythmia, Cardiomyopathy, Congestive ...	ORPHA:34217
Non-Involuting Congenital Hemangioma	Telangiectasia of the skin, Congestive heart failure	ORPHA:141179
Maternally-Inherited Diabetes And Deafness	Hypertension, Hypertrophic cardiomyopathy, Arrhythmia, Congestive heart failure	ORPHA:225
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma	Dilated cardiomyopathy, Ventricular tachycardia, Congestive heart failure	OMIM:605676
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes	Wolff-Parkinson-White syndrome, Abnormal left ventricular function, Arrhythmia, Hypertension, Con...	OMIM:540000
Combined Oxidative Phosphorylation Deficiency 28	Congestive heart failure	OMIM:616794
Attrv122I Amyloidosis	Angina pectoris, Atrial arrhythmia, Aortic valve stenosis, Restrictive cardiomyopathy, Arrhythmia...	ORPHA:85451
Hemochromatosis, Type 2A	Dilated cardiomyopathy, Arrhythmia, Cardiomyopathy, Congestive heart failure	OMIM:602390
Cardiogenic Shock	Abnormal left ventricular function, Low pulse pressure, Increased pulmonary capillary wedge press...	ORPHA:97292
Desminopathy	Supraventricular arrhythmia, Concentric hypertrophic cardiomyopathy, Sudden cardiac death, Atriov...	ORPHA:98909
Rapidly Involuting Congenital Hemangioma	Telangiectasia of the skin, Congestive heart failure	ORPHA:141184
Collagenoma, Familial Cutaneous	Tricuspid regurgitation, Right ventricular cardiomyopathy, Vasculitis, Atrial fibrillation, Cardi...	OMIM:115250
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers	Dilated cardiomyopathy, Congestive heart failure	ORPHA:206546
Loeffler Endocarditis	Aortic valve stenosis, Restrictive cardiomyopathy, Mitral regurgitation, Palpitations, Arrhythmia...	ORPHA:75566
Familial Dyskinesia And Facial Myokymia	Dilated cardiomyopathy, Congestive heart failure	ORPHA:324588
Aorto-Ventricular Tunnel	Congestive heart failure, Heart murmur	ORPHA:3400
Coronary Arterial Fistula	Angina pectoris, Abnormal left ventricular function, Aortic valve stenosis, Systolic heart murmur...	ORPHA:2041
3-Methylglutaconic Aciduria, Type V	Sudden cardiac death, Noncompaction cardiomyopathy, Dilated cardiomyopathy, Prolonged QT interval...	OMIM:610198
Intellectual Developmental Disorder, X-Linked, Syndromic 32	Congestive heart failure	OMIM:300886
Myopathy, Myosin Storage, Autosomal Recessive	Right axis deviation, Dilated cardiomyopathy, Elevated jugular venous pressure, Right bundle bran...	OMIM:255160
Peripartum Cardiomyopathy	Left bundle branch block, Abnormal T-wave, Mitral regurgitation, Right ventricular failure, Tachy...	ORPHA:563
Hemochromatosis, Type 2B	Cardiomyopathy, Congestive heart failure	OMIM:613313
Congenital Muscular Dystrophy Due To Lmna Mutation	Arrhythmia, Congestive heart failure	ORPHA:157973
Idiopathic Pulmonary Arterial Hypertension	Tricuspid regurgitation, Palpitations, Elevated pulmonary artery pressure, Heart murmur, Syncope,...	ORPHA:275766
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome	Hypertrophic cardiomyopathy, Low-output congestive heart failure	ORPHA:91130
Tako-Tsubo Cardiomyopathy	Angina pectoris, ST segment depression, Mitral regurgitation, Palpitations, Decreased QRS voltage...	ORPHA:66529
Cednik Syndrome	Congestive heart failure	ORPHA:66631
Myopathy, Congenital, With Structured Cores And Z-Line Abnormalities	Congestive heart failure	OMIM:618654
Cardiac Valvular Dysplasia, X-Linked	Mitral regurgitation, Aortic regurgitation, Tricuspid regurgitation, Congestive heart failure	OMIM:314400
Fixed Subaortic Stenosis	Angina pectoris, Pulmonary venous hypertension, Left ventricular outflow tract obstruction, Systo...	ORPHA:3092
Mitochondrial Complex Iv Deficiency, Nuclear Type 4	Bradycardia, Congestive heart failure	OMIM:619048
Thiamine-Responsive Megaloblastic Anemia Syndrome	Cardiac arrest, Paroxysmal atrial tachycardia, Congestive heart failure	ORPHA:49827
Isolated Right Ventricular Hypoplasia	Tricuspid regurgitation, Systolic heart murmur, Right ventricular failure, Right-to-left shunt, A...	ORPHA:439
Pheochromocytoma--Islet Cell Tumor Syndrome	Positive regitine blocking test, Cerebral hemorrhage, Tachycardia, Episodic hypertension, Congest...	OMIM:171420
Atrial Septal Defect, Ostium Secundum Type	Supraventricular arrhythmia, Bundle branch block, Supraventricular tachycardia, Abnormal left ven...	ORPHA:99103
Congenital Pulmonary Lymphangiectasia	Pulmonic stenosis, Pulmonary arterial hypertension, Tricuspid regurgitation, Congestive heart fai...	ORPHA:2414
Wild Type Abeta2M Amyloidosis	Gastrointestinal hemorrhage, Arrhythmia, Congestive heart failure	ORPHA:85446
Atrial Septal Defect, Ostium Primum Type	Congestive heart failure, Abnormal P wave, Fixed splitting of the second heart sound, Tricuspid r...	ORPHA:99106
Congenital Gerbode Defect	Elevated right atrial pressure, Tricuspid regurgitation, Left-to-right shunt, Systolic heart murm...	ORPHA:99095
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss	Hypertension, Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Congestive heart failure	ORPHA:1349
Atrioventricular Septal Defect 3	Midsystolic murmur, First degree atrioventricular block, Hypertension, Pulmonary arterial hyperte...	OMIM:600309
Wild Type Attr Amyloidosis	Orthostatic hypotension due to autonomic dysfunction, Arrhythmia, Myocardial infarction, Abnormal...	ORPHA:330001
Hutchinson-Gilford Progeria Syndrome	Angina pectoris, Myocardial infarction, Congestive heart failure	OMIM:176670
Cardiomyopathy, Familial Hypertrophic, 4	Left bundle branch block, Congestive heart failure, Sudden cardiac death, Syncope, Ventricular fi...	OMIM:115197
Naxos Disease	Prolonged QRS complex, Premature ventricular contraction, Right ventricular cardiomyopathy, Sudde...	OMIM:601214
Drug-Induced Autoimmune Hemolytic Anemia	Tachycardia, Congestive heart failure	ORPHA:90037
Cirrhotic Cardiomyopathy	Third heart sound, Left ventricular diastolic dysfunction, Elevated pulmonary artery pressure, Ar...	ORPHA:57777
Familial Atrial Myxoma	Tricuspid regurgitation, Congestive heart failure, Heart murmur	ORPHA:615
Complete Atrioventricular Septal Defect	Pulmonary venous hypertension, Abnormal P wave, Left-to-right shunt, Systolic heart murmur, Third...	ORPHA:1329
Non-Functioning Paraganglioma	Hypertension associated with pheochromocytoma, Positive regitine blocking test, Cerebral hemorrha...	ORPHA:94080
Acquired Aneurysmal Subarachnoid Hemorrhage	ST segment depression, Cerebral hemorrhage, Cerebral ischemia, Syncope, Prolonged QTc interval, M...	ORPHA:90065
Babesiosis	Myocardial infarction, Congestive heart failure	ORPHA:108
Pseudoxanthoma Elasticum	Angina pectoris, Intermittent claudication, Mitral stenosis, Restrictive cardiomyopathy, Weak pul...	OMIM:264800
Dyskinesia With Orofacial Involvement, Autosomal Dominant	Dilated cardiomyopathy, Congestive heart failure	OMIM:606703
Ebstein Malformation Of The Tricuspid Valve	Sudden cardiac death, Arrhythmia, Cerebral ischemia, Right bundle branch block, Atrial fibrillati...	ORPHA:1880
Hb Bart'S Hydrops Fetalis	Pericarditis, Congestive heart failure	ORPHA:163596
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type	Hypertrophic cardiomyopathy, Congestive heart failure	ORPHA:70472
Cardiomyopathy, Dilated, 1S	Tricuspid regurgitation, Mitral regurgitation, Sudden cardiac death, Ventricular arrhythmia, Dila...	OMIM:613426
Polymyositis	Arrhythmia, Vasculitis, Myocardial infarction, Abnormal atrioventricular conduction, Dilated card...	ORPHA:732
Maternal Uniparental Disomy Of Chromosome X	Congestive heart failure	ORPHA:261519
Infantile Sialic Acid Storage Disease	Congestive heart failure	OMIM:269920
Autoimmune Hemolytic Anemia	Arrhythmia, Congestive heart failure	ORPHA:98375
Glycogen Storage Disease Of Heart, Lethal Congenital	Hypotension, Shortened PR interval, Bradycardia, Cardiomyopathy, Congestive heart failure	OMIM:261740
Immune-Mediated Necrotizing Myopathy	Palpitations, Raynaud phenomenon, Myocarditis, Congestive heart failure	ORPHA:206569
Dk1-Cdg	Dilated cardiomyopathy, Arrhythmia, Congestive heart failure	ORPHA:91131
Pancreatic insufficiency, combined exocrine	Congestive heart failure	OMIM:260450
Refsum Disease, Classic	Arrhythmia, Cardiomyopathy, Congestive heart failure	OMIM:266500
Graves Disease, Susceptibility To, 1	Congestive heart failure	OMIM:275000
Congenitally Uncorrected Transposition Of The Great Arteries	Cardiac shunt, Left ventricular outflow tract obstruction, Tachycardia, Abnormal QRS complex, Hea...	ORPHA:860
Combined Oxidative Phosphorylation Defect Type 23	Wolff-Parkinson-White syndrome, Hypertrophic cardiomyopathy, Severely reduced left ventricular ej...	ORPHA:444013
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome	Congestive heart failure	ORPHA:3077
Klippel-Trénaunay Syndrome	Gastrointestinal hemorrhage, Pulmonary embolism, Internal hemorrhage, Congestive heart failure	ORPHA:90308
Muscular Dystrophy, Duchenne Type	Arrhythmia, Dilated cardiomyopathy, Abnormal EKG, Cardiomyopathy, Congestive heart failure	OMIM:310200
Hemochromatosis, Type 1	Telangiectasia, Arrhythmia, Cardiomyopathy, Congestive heart failure	OMIM:235200
Carnitine Deficiency, Systemic Primary	Hypertrophic cardiomyopathy, Congestive heart failure	OMIM:212140
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy	Hypertrophic cardiomyopathy, Arrhythmia, Congestive heart failure	ORPHA:1194
American Trypanosomiasis	Arrhythmia, Cardiomyopathy, Myocarditis, Congestive heart failure	ORPHA:3386
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome	Aortic valve stenosis, Tricuspid regurgitation, Mitral regurgitation, Atrial flutter, Congestive ...	ORPHA:324410
Mulibrey Nanism	Congestive heart failure	OMIM:253250
Fabry Disease	Angina pectoris, Arrhythmia, Myocardial infarction, Hypertension, Transient ischemic attack, Cong...	OMIM:301500
Hereditary Hemorrhagic Telangiectasia	Telangiectasia of the skin, Mucosal telangiectasiae, Cerebral hemorrhage, Retinal telangiectasia,...	ORPHA:774
Barth Syndrome	Tricuspid regurgitation, Arrhythmia, Increased left ventricular end-diastolic volume, Dilated car...	OMIM:302060
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia	Cardiomyopathy, Congestive heart failure	ORPHA:52430
Polyhydramnios-Megalencephaly-Symptomatic Epilepsy Syndrome	Congestive heart failure	ORPHA:500533
Spinal Arteriovenous Metameric Syndrome	Congestive heart failure	ORPHA:53721
Classic Multiminicore Myopathy	Right ventricular failure, Congestive heart failure	ORPHA:324604
Pheochromocytoma	Positive regitine blocking test, Cerebral hemorrhage, Tachycardia, Episodic hypertension, Congest...	OMIM:171300
Aarskog-Scott Syndrome	Congestive heart failure	ORPHA:915
Primary Lipodystrophy	Angina pectoris, Hypertension, Cardiomyopathy, Congestive heart failure	ORPHA:90970
Mitochondrial Complex I Deficiency, Nuclear Type 20	Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Congestive heart failure	OMIM:611126
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans	Pulmonary arterial hypertension, Congestive heart failure	OMIM:616482
Autoimmune Hemolytic Anemia, Warm Type	Tachycardia, Congestive heart failure	ORPHA:90033
Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome	Congestive heart failure	ORPHA:137608
Kallmann Syndrome-Heart Disease Syndrome	Mitral regurgitation, Pulmonary insufficiency, Heart murmur, Aortic regurgitation, Dilated cardio...	ORPHA:2326
Osteogenesis Imperfecta, Type Ii	Pulmonary insufficiency, Congestive heart failure	OMIM:166210
Aneurysm Of Sinus Of Valsalva	Aortic regurgitation, Congestive heart failure, Heart murmur	ORPHA:1054
Pediatric-Onset Graves Disease	Sinus tachycardia, Palpitations, Hypertension, Atrial fibrillation, Congestive heart failure	ORPHA:525731
Acyl-Coa Dehydrogenase 9 Deficiency	Cerebellar hemorrhage, Sudden cardiac death, Dilated cardiomyopathy, Hypertrophic cardiomyopathy,...	ORPHA:99901
Sporadic Pheochromocytoma/Secreting Paraganglioma	Hypertension associated with pheochromocytoma, Positive regitine blocking test, Cerebral hemorrha...	ORPHA:276621
Aortic Arch Interruption	Intermittent claudication, Blood pressure substantially higher in arms than legs, Tricuspid regur...	ORPHA:2299
Eosinophilic Granulomatosis With Polyangiitis	Recurrent intrapulmonary hemorrhage, Myocarditis, Vasculitis, Myocardial infarction, Hypertension...	ORPHA:183
Arterial Calcification, Generalized, Of Infancy, 1	Myocardial infarction, Dilated cardiomyopathy, Hypertension, Congestive heart failure	OMIM:208000
Friedreich Ataxia	Hypertrophic cardiomyopathy, Abnormal EKG, Congestive heart failure	OMIM:229300
Craniofaciofrontodigital Syndrome	Persistent fetal circulation, Aortic valve stenosis, Mitral regurgitation, Arrhythmia, Gastrointe...	ORPHA:363705
Microscopic Polyangiitis	Arrhythmia, Vasculitis, Gastrointestinal hemorrhage, Pericarditis, Epistaxis, Congestive heart fa...	ORPHA:727
Diffuse Cutaneous Systemic Sclerosis	Telangiectasia of the skin, Pulmonary arterial hypertension, Congestive heart failure, Hypertensi...	ORPHA:220393
Pparg-Related Familial Partial Lipodystrophy	Hypertension, Hypertrophic cardiomyopathy, Congestive heart failure	ORPHA:79083
Symptomatic Form Of Hemochromatosis Type 1	Arrhythmia, Portal hypertension, Cardiomyopathy, Congestive heart failure, Elevated jugular venou...	ORPHA:465508
Acquired Idiopathic Sideroblastic Anemia	Congestive heart failure	ORPHA:75564
Chronic Thromboembolic Pulmonary Hypertension	Cardiac shunt, Abnormal left ventricular function, Abnormal T-wave, Right ventricular failure, Pa...	ORPHA:70591
Leigh Syndrome With Cardiomyopathy	Pulmonic stenosis, Mitral regurgitation, Dilated cardiomyopathy, Cardiac conduction abnormality, ...	ORPHA:70474
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency	Dilated cardiomyopathy, Portal hypertension, Congestive heart failure	ORPHA:367
Mitochondrial Trifunctional Protein Deficiency	Tricuspid regurgitation, Mitral regurgitation, Arrhythmia, Cardiomyopathy, Congestive heart failure	ORPHA:746
Familial Partial Lipodystrophy, Dunnigan Type	Hypertrophic cardiomyopathy, Congestive heart failure	ORPHA:2348
Colchicine Poisoning	Hypovolemia, Arrhythmia, Cardiogenic shock, Hypotension, Myocarditis, Congestive heart failure	ORPHA:31824
Congenitally Corrected Transposition Of The Great Arteries	Mobitz I atrioventricular block, Heart murmur, Sick sinus syndrome, Right ventricular cardiomyopa...	ORPHA:216694
Mitochondrial Trifunctional Protein Deficiency	Dilated cardiomyopathy, Arrhythmia, Congestive heart failure	OMIM:609015
Hyperkalemic Periodic Paralysis	Arrhythmia, Congestive heart failure	ORPHA:682
Schimke Immuno-Osseous Dysplasia	Cerebral ischemia, Ischemic stroke, Hypertension, Transient ischemic attack, Pulmonary arterial h...	ORPHA:1830
Congenital Generalized Lipodystrophy	Hypertrophic cardiomyopathy, Congestive heart failure	ORPHA:528
Simple Cryoglobulinemia	Raynaud phenomenon, Vasculitis, Myocardial infarction, Gastrointestinal hemorrhage, Pericarditis,...	ORPHA:91139
Gm1-Gangliosidosis, Type I	Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Congestive heart failure	OMIM:230500
Tetrasomy 5P	Pulmonary arterial hypertension, Congestive heart failure, Heart murmur	ORPHA:3309
Histiocytoid Cardiomyopathy	Wolff-Parkinson-White syndrome, Supraventricular tachycardia, Tachycardia, Junctional ectopic tac...	ORPHA:137675
Spinal Muscular Atrophy With Congenital Bone Fractures 1	Cardiomyopathy, Congestive heart failure	OMIM:616866
Ethylene Glycol Poisoning	Tachycardia, Hypotension, Shock, Hypertension, Atrial fibrillation, Prolonged QT interval, Conges...	ORPHA:31826
Werner Syndrome	Telangiectasia of the skin, Hypertension, Myocardial infarction, Congestive heart failure	ORPHA:902
Multiple Acyl-Coa Dehydrogenase Deficiency	Arrhythmia, Cardiomyopathy, Congestive heart failure	ORPHA:26791
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment	Tricuspid regurgitation, Premature ventricular contraction, Mitral regurgitation, First degree at...	OMIM:620066
Capillary Malformation-Arteriovenous Malformation	High-output congestive heart failure, Cerebral ischemia, Telangiectasia, Epistaxis, Congestive he...	ORPHA:137667
Hereditary Pheochromocytoma-Paraganglioma	Hypertension associated with pheochromocytoma, Positive regitine blocking test, Cerebral hemorrha...	ORPHA:29072
Gm1 Gangliosidosis	Cardiomyopathy, Congestive heart failure	ORPHA:354
Martsolf Syndrome 1	Cardiac arrest, Cardiomyopathy, Congestive heart failure	OMIM:212720
Scorpion Envenomation	Bundle branch block, Premature ventricular contraction, ST segment depression, Tachycardia, Arrhy...	ORPHA:466677
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy	Supraventricular arrhythmia, Ventricular arrhythmia, Abnormal atrioventricular conduction, Hypert...	ORPHA:280365
Mucopolysaccharidosis-Plus Syndrome	Hypertrophic cardiomyopathy, Congestive heart failure	OMIM:617303
Waldenström Macroglobulinemia	Retinal hemorrhage, Vasculitis, Gastrointestinal hemorrhage, Epistaxis, Congestive heart failure	ORPHA:33226
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy	Cardiomyopathy, Congestive heart failure	OMIM:619259
Alstrom Syndrome	Hypertension, Dilated cardiomyopathy, Congestive heart failure	OMIM:203800
Arterial Tortuosity Syndrome	Telangiectasia of the skin, Myocarditis, Myocardial infarction, Dilated cardiomyopathy, Hypertens...	ORPHA:3342
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Dilated cardiomyopathy, Cardiomyopathy, Congestive heart failure, Hematochezia	OMIM:615895
Multiple Benign Circumferential Skin Creases On Limbs	Congestive heart failure	ORPHA:2505
Carney Complex, Type 1	Congestive heart failure	OMIM:160980
Aorta Coarctation	Hypertension, Pulmonary arterial hypertension, Congestive heart failure	ORPHA:1457
Cardiac Diverticulum	Angina pectoris, Mitral stenosis, Aortic valve stenosis, Premature ventricular contraction, Tricu...	ORPHA:1686
Chromosome 18Q Deletion Syndrome	Aortic valve stenosis, Congestive heart failure	OMIM:601808
Laubry-Pezzi Syndrome	Right ventricular outlet tract obstruction, Palpitations, Elevated pulmonary artery pressure, Aor...	ORPHA:99094
Monosomy 18Q	Mitral regurgitation, Aortic valve stenosis, Congestive heart failure, Left-to-right shunt	ORPHA:1600
Avian Influenza	Congestive heart failure	ORPHA:454836
African Iron Overload	Congestive heart failure	ORPHA:139507
Fabry Disease	Angina pectoris, Telangiectasia of the skin, Bundle branch block, Mucosal telangiectasiae, Mitral...	ORPHA:324
Hereditary Amyloidosis With Primary Renal Involvement	Gastrointestinal hemorrhage, Hypertension, Congestive heart failure	ORPHA:85450
Amoebiasis Due To Entamoeba Histolytica	Constrictive pericarditis, Congestive heart failure	ORPHA:67
Cutis Laxa, Autosomal Recessive, Type Iid	Hypertrophic cardiomyopathy, Right bundle branch block, Congestive heart failure	OMIM:617403
Mitochondrial Complex Iv Deficiency, Nuclear Type 22	Congestive heart failure	OMIM:619355
3-Methylglutaconic Aciduria, Type Viib	Congestive heart failure	OMIM:616271
Lmna-Related Cardiocutaneous Progeria Syndrome	Aortic valve stenosis, Mitral regurgitation, Intracranial hemorrhage, Hypertension, Congestive he...	ORPHA:363618
Mucopolysaccharidosis, Type Ii	Congestive heart failure	OMIM:309900
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Tricuspid regurgitation, Hypertrophic cardiomyopathy, Mitral regurgitation, Tachycardia, Pulmonar...	ORPHA:505248
Absence Of The Pulmonary Artery	Systolic heart murmur, Tachycardia, Reduced left ventricular ejection fraction, Abnormal EKG, Atr...	ORPHA:980
Cutis Laxa, Autosomal Dominant 1	Mitral regurgitation, Aortic regurgitation, Congestive heart failure	OMIM:123700
Leigh Syndrome	Hypertrophic cardiomyopathy, Congestive heart failure	ORPHA:506
Vici Syndrome	Dilated cardiomyopathy, Cardiomyopathy, Congestive heart failure	OMIM:242840
Congenital Disorder Of Glycosylation, Type Iie	Congestive heart failure	OMIM:608779
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency	Arterial rupture, Congestive heart failure	ORPHA:1900
Autosomal Dominant Hypocalcemia	Arrhythmia, Hypotension, Congestive heart failure	ORPHA:428
Incontinentia Pigmenti	Telangiectasia of the skin, Retinal hemorrhage, Cerebral ischemia, Pulmonary arterial hypertensio...	ORPHA:464
Mucopolysaccharidosis Type 1	Hypertrophic cardiomyopathy, Congestive heart failure	ORPHA:579
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	Noncompaction cardiomyopathy, Tricuspid regurgitation, Congestive heart failure	ORPHA:508542
Aceruloplasminemia	Congestive heart failure	ORPHA:48818
Telangiectasia, Hereditary Hemorrhagic, Type 4	High-output congestive heart failure, Cerebral hemorrhage, Right-to-left shunt, Subarachnoid hemo...	OMIM:610655
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta	Left-to-right shunt, Left ventricular outflow tract obstruction, Heart murmur, Pulmonary arterial...	ORPHA:99050
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset	Left ventricular outflow tract obstruction, Heart murmur, Shortened PR interval, Low-output conge...	ORPHA:308552
Mucolipidosis Ii Alpha/Beta	Mitral regurgitation, Heart murmur, Aortic regurgitation, Hypertrophic cardiomyopathy, Congestive...	OMIM:252500
Geleophysic Dysplasia 1	Tricuspid stenosis, Mitral stenosis, Aortic valve stenosis, Congestive heart failure	OMIM:231050
Malignant Hyperthermia Of Anesthesia	Premature ventricular contraction, Supraventricular tachycardia, High-output congestive heart fai...	ORPHA:423
Seckel Syndrome 10	Hypertension, Congestive heart failure	OMIM:617253
Friedreich Ataxia And Congenital Glaucoma	Hypertrophic cardiomyopathy, Abnormal EKG, Congestive heart failure, Concentric hypertrophic card...	OMIM:229310
Triosephosphate Isomerase Deficiency	Congestive heart failure	OMIM:615512
Idiopathic Hypereosinophilic Syndrome	Supraventricular arrhythmia, Vasculitis in the skin, Raynaud phenomenon, Intracranial hemorrhage,...	ORPHA:3260
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome	Sudden cardiac death, Dilated cardiomyopathy, Congestive heart failure	ORPHA:73224
Weill-Marchesani Syndrome 2	Pulmonic stenosis, Mitral regurgitation, Aortic valve stenosis, Congestive heart failure	OMIM:608328
Autosomal Recessive Cutis Laxa Type 1	Abnormal cardiac ventricular function, Supravalvular aortic stenosis, Congestive heart failure	ORPHA:90349
Friedreich Ataxia 2	Abnormal EKG, Congestive heart failure, Concentric hypertrophic cardiomyopathy	OMIM:601992
Tsh-Secreting Pituitary Adenoma	Supraventricular arrhythmia, Palpitations, Ventricular arrhythmia, Hypotension, Hypertension, Con...	ORPHA:91347
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1	Gastrointestinal hemorrhage, Arterial rupture, Congestive heart failure	OMIM:225400
Angioosteohypertrophic Syndrome	Telangiectasia of the skin, Gastrointestinal hemorrhage, Pulmonary embolism, Congestive heart fai...	ORPHA:2346
Triglyceride Deposit Cardiomyovasculopathy	Angina pectoris, Palpitations, Arrhythmia, Low-output congestive heart failure, Cardiomyopathy	ORPHA:565612
Scimitar Syndrome	Heart block, Pulmonary arterial hypertension, Congestive heart failure, Left-to-right shunt	ORPHA:185
Telangiectasia, Hereditary Hemorrhagic, Type 1	Melena, Telangiectasia of the skin, Hemothorax, Pulmonary hemorrhage, Subarachnoid hemorrhage, He...	OMIM:187300
Listeriosis	Arteritis, Pericarditis, Myocarditis, Congestive heart failure	ORPHA:533
Spinocerebellar Ataxia Type 7	Congestive heart failure	ORPHA:94147
Kawasaki Disease	Arrhythmia, Vasculitis, Myocarditis, Pericarditis, Congestive heart failure	ORPHA:2331
Dominant Beta-Thalassemia	Dilated cardiomyopathy, Arrhythmia, High-output congestive heart failure	ORPHA:231226
Abetalipoproteinemia	Congestive heart failure	ORPHA:14
Beta-Thalassemia Intermedia	Pulmonary arterial hypertension, High-output congestive heart failure	ORPHA:231222
Erdheim-Chester Disease	Congestive heart failure	ORPHA:35687
Primary Sclerosing Cholangitis	Palmar telangiectasia, Spider hemangioma, Portal hypertension, Congestive heart failure	ORPHA:171
Hallermann-Streiff Syndrome	Congestive heart failure	ORPHA:2108
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Heart murmur, Aortic regurgitation, Congestive heart failure	OMIM:619475
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Pulmonary arterial hypertension, Congestive heart failure, Renovascular hypertension	ORPHA:391487
Marfan Syndrome	Mitral regurgitation, Aortic regurgitation, Tricuspid regurgitation, Congestive heart failure	OMIM:154700
Beta-Thalassemia Major	Dilated cardiomyopathy, Arrhythmia, High-output congestive heart failure	ORPHA:231214
Charcot-Marie-Tooth Peroneal Muscular Atrophy And Friedreich Ataxia, Combined	Abnormal EKG, Congestive heart failure, Concentric hypertrophic cardiomyopathy	OMIM:302900
Diamond-Blackfan Anemia 1	Tricuspid stenosis, Congestive heart failure	OMIM:105650
Neutral Lipid Storage Myopathy	Cardiomyopathy, Congestive heart failure	ORPHA:98908
Autosomal Dominant Cutis Laxa	Mitral regurgitation, Aortic regurgitation, Congestive heart failure	ORPHA:90348
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Pulmonary arterial hypertension, Congestive heart failure	ORPHA:444077
African Trypanosomiasis	Arrhythmia, Myocarditis, Third degree atrioventricular block, Second degree atrioventricular bloc...	ORPHA:3385
Williams Syndrome	Pulmonic stenosis, Mitral regurgitation, Sudden cardiac death, Cerebral ischemia, Renovascular hy...	ORPHA:904
Atypical Werner Syndrome	Telangiectasia of the skin, Aortic valve stenosis, Hypertension, Congestive heart failure	ORPHA:79474
Marfan Syndrome	Congestive heart failure	ORPHA:558
Proteasome-Associated Autoinflammatory Syndrome 1	Arrhythmia, Congestive heart failure	OMIM:256040
Parkes Weber Syndrome	Bounding pulse, High-output congestive heart failure, Subarachnoid hemorrhage	ORPHA:90307
Carney Complex	Hypertension, Congestive heart failure	ORPHA:1359
Singleton-Merten Syndrome 1	Aortic valve stenosis, Congestive heart failure	OMIM:182250
Congenital Total Pulmonary Venous Return Anomaly	Tricuspid regurgitation, Mitral regurgitation, Right ventricular failure, Tachycardia, Low-output...	ORPHA:99125
Alström Syndrome	Abnormal coronary artery physiology, Dilated cardiomyopathy, Portal hypertension, Hypertension, P...	ORPHA:64
Myh7-Related Late-Onset Scapuloperoneal Muscular Dystrophy	Left anterior fascicular block, Abnormal left ventricular function, Arrhythmia, Heart murmur, Hyp...	ORPHA:437572
Familial Isolated Dilated Cardiomyopathy	Dilated cardiomyopathy	ORPHA:154
Myopathy, Distal, 1	Dilated cardiomyopathy	OMIM:160500
Myopathy, Myosin Storage, Autosomal Dominant	Hypertrophic cardiomyopathy	OMIM:608358
Laing Early-Onset Distal Myopathy	Dilated cardiomyopathy	ORPHA:59135
Scapuloperoneal Myopathy, Myh7-Related		OMIM:181430

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Myh7

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Myh7.

There are 5 publications which use IMPC produced mice or data.

Title	Journal	IMPC Allele	PubMed ID
A Genome-Wide Screen in Mice To Identify Cell-Extrinsic Regulators of Pulmonary Metastatic Colonisation.	G3 (Bethesda, Md.) (June 2020)	Myh7b^{tm1a(KOMP)Wtsi}	PMC7263671
High-throughput phenotyping reveals expansive genetic and structural underpinnings of immune variation.	Nature immunology (December 2019)	Myh7b^{tm1a(KOMP)Wtsi}	PMC7338221
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis.	Nature communications (August 2019)	Myh7b^{tm1a(KOMP)Wtsi}

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