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

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Significant
Not Significant
Not tested

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.

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

Disease Similarity of
phenotypes
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 Similarity of
phenotypes
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) Myh7btm1a(KOMP)Wtsi PMC7263671
High-throughput phenotyping reveals expansive genetic and structural underpinnings of immune variation. Nature immunology (December 2019) Myh7btm1a(KOMP)Wtsi PMC7338221
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis. Nature communications (August 2019) Myh7btm1a(KOMP)Wtsi