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

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
Dilated cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy OMIM:255160
Cardiomyopathy, Dilated, 1S
Ventricular arrhythmia, Congestive heart failure, Dilated cardiomyopathy, Tricuspid regurgitation OMIM:613426
Ebstein Malformation Of The Tricuspid Valve
Arrhythmia, Atrial fibrillation, Sudden cardiac death, Congestive heart failure, Cerebral ischemi... ORPHA:1880
Classic Multiminicore Myopathy
Congestive heart failure, Right ventricular failure ORPHA:324604
Myh7-Related Late-Onset Scapuloperoneal Muscular Dystrophy
Arrhythmia, Abnormal left ventricular function, Hypertension, Heart murmur, Left anterior fascicu... ORPHA:437572
Familial Isolated Dilated Cardiomyopathy
Dilated cardiomyopathy ORPHA:154
Myopathy, Distal, 1
Dilated cardiomyopathy OMIM:160500
Laing Early-Onset Distal Myopathy
Dilated cardiomyopathy ORPHA:59135
Scapuloperoneal Myopathy, Myh7-Related
OMIM:181430
Myopathy, Myosin Storage, Autosomal Dominant
OMIM:608358

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Cardiomyopathy, Dilated, 1I
Dilated cardiomyopathy, Congestive heart failure, Reduced systolic function OMIM:604765
Cardiomyopathy, Dilated, 1U
Dilated cardiomyopathy, Congestive heart failure, Syncope OMIM:613694
Cardiomyopathy, Dilated, 1V
Dilated cardiomyopathy, Congestive heart failure, Syncope OMIM:613697
Cardiomyopathy, Dilated, 1L
Dilated cardiomyopathy, Congestive heart failure, Reduced systolic function OMIM:606685
Cardiomyopathy, Dilated, 1Dd
Dilated cardiomyopathy, Sudden cardiac death, Congestive heart failure OMIM:613172
Cardiomyopathy, Dilated, 1P
Ventricular arrhythmia, Congestive heart failure, Dilated cardiomyopathy, Reduced systolic function OMIM:609909
Cardiomyopathy, Dilated, 1Hh
Dilated cardiomyopathy, Congestive heart failure OMIM:613881
Cardiomyopathy, Dilated, 2A
Dilated cardiomyopathy, Congestive heart failure OMIM:611880
Cardiomyopathy, Dilated, 1J
Sudden cardiac death, Congestive heart failure, Abnormal left ventricular function, Dilated cardi... OMIM:605362
Cardiac Lipidosis, Familial
Congestive heart failure, Cardiomyopathy OMIM:212080
Cardiomyopathy, Familial Hypertrophic, 15
Congestive heart failure, Hypertrophic cardiomyopathy OMIM:613255
Sensorineural Deafness With Dilated Cardiomyopathy
Dilated cardiomyopathy, Abnormal cardiac ventricular function, Congestive heart failure ORPHA:217622
Cardiomyopathy, Dilated, 1B
Ventricular arrhythmia, Impaired myocardial contractility, Congestive heart failure, Dilated card... OMIM:600884
Endocardial Fibroelastosis
Congestive heart failure, Cardiomyopathy OMIM:226000
Cardiomyopathy, Dilated, 2B
Dilated cardiomyopathy, Congestive heart failure, Atrial fibrillation OMIM:614672
Carvajal Syndrome
Dilated cardiomyopathy, Congestive heart failure ORPHA:65282
Cardiomyopathy, Familial Hypertrophic, 1
Asymmetric septal hypertrophy, Arrhythmia, Congestive heart failure OMIM:192600
Left Ventricular Noncompaction 8
Arrhythmia, Abnormal left ventricular function, Congestive heart failure, Dilated cardiomyopathy,... OMIM:615373
Familial Progressive Cardiac Conduction Defect
Arrhythmia, Bundle branch block, Congestive heart failure, Heart block, Syncope ORPHA:871
Long Qt Syndrome 13
Paroxysmal atrial fibrillation, Atrial fibrillation, Hypertension, Pulmonary embolism, Atrioventr... OMIM:613485
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5
Palpitations, Prolonged QRS complex, Ventricular extrasystoles, Ventricular tachycardia, Sudden c... OMIM:604400
Cardiomyopathy, Dilated, 1Y
Dilated cardiomyopathy, Mitral regurgitation, Congestive heart failure, Ventricular tachycardia OMIM:611878
Cardiomyopathy, Dilated, 1G
Premature atrial contractions, Reduced ejection fraction, Atrial fibrillation, Ventricular tachyc... OMIM:604145
Cardiomyopathy, Dilated, 1R
Ventricular arrhythmia, Restrictive cardiomyopathy, Congestive heart failure, Dilated cardiomyopathy OMIM:613424
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Ventricular arrhythmia, Sudden cardiac death, Congestive heart failure, Dilated cardiomyopathy OMIM:601493
Cardiomyopathy, Dilated, 1A
Ventricular arrhythmia, Atrial flutter, Atrial fibrillation, Congestive heart failure, Dilated ca... OMIM:115200
Mitochondrial Complex I Deficiency, Nuclear Type 30
Neonatal death, Congestive heart failure OMIM:301021
Incessant Infant Ventricular Tachycardia
Bundle branch block, Prolonged QRS complex, Wolff-Parkinson-White syndrome, Ventricular tachycard... ORPHA:45453
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8
Ventricular extrasystoles, Ventricular tachycardia, Sudden cardiac death, Ventricular fibrillatio... OMIM:607450
Cardiomyopathy, Familial Hypertrophic, 26
Mitral regurgitation, Congestive heart failure, Atrial fibrillation OMIM:617047
Cardiomyopathy, Dilated, 1Kk
Atrial fibrillation, Congestive heart failure, Dilated cardiomyopathy, Mitral regurgitation, Hype... OMIM:615248
Hydrops Fetalis, Nonimmune
Congestive heart failure OMIM:236750
Butyrylcholinesterase Deficiency
Myocardial infarction, Congestive heart failure ORPHA:132
Atransferrinemia
Congestive heart failure OMIM:209300
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Paroxysmal supraventricular tachycardia, Atrial flutter, Ventricular extrasystoles, Atrial fibril... OMIM:616117
Cardiomyopathy, Dilated, 1D
Dilated cardiomyopathy, Congestive heart failure, Atrial fibrillation OMIM:601494
Arterial Calcification, Generalized, Of Infancy, 2
Myocardial infarction, Congestive heart failure, Hypertension OMIM:614473
Cardiomyopathy, Familial Hypertrophic, 8
Palpitations, Restrictive cardiomyopathy, T-wave inversion, Sudden cardiac death, Ventricular fib... OMIM:608751
Congenital Left Ventricular Aneurysm
Abnormal T-wave, Arrhythmia, Congestive heart failure, Abnormal ST segment ORPHA:1055
Combined Oxidative Phosphorylation Deficiency 17
Congestive heart failure, Hypertrophic cardiomyopathy OMIM:615440
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome
Arrhythmia, Hypertension, Pulmonary embolism, Congestive heart failure, Hypertrophic cardiomyopathy ORPHA:1345
Left Ventricular Noncompaction 1
Ventricular arrhythmia, Atrial fibrillation, Sudden cardiac death, Congestive heart failure, Left... OMIM:604169
Combined Oxidative Phosphorylation Deficiency 23
Cardiomyopathy, Arrhythmia, Congestive heart failure OMIM:616198
Congenital Tricuspid Stenosis
Hypotension, Tricuspid regurgitation, Tricuspid stenosis, Heart murmur, Congestive heart failure,... ORPHA:95459
Familial Dilated Cardiomyopathy
Ventricular arrhythmia, Palpitations, Reduced ejection fraction, Arrhythmia, Elevated pulmonary a... ORPHA:217607
Sudden Cardiac Failure, Infantile
Congestive heart failure, Bradycardia, Hypertrophic cardiomyopathy, Myocarditis OMIM:617222
Atrial Septal Defect, Sinus Venosus Type
Premature atrial contractions, Palpitations, Cardiac conduction abnormality, Supraventricular arr... ORPHA:99105
Atrial Standstill
Palpitations, Reduced ejection fraction, Arrhythmia, Ischemic stroke, Cardiac conduction abnormal... ORPHA:1344
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Ventricular arrhythmia, Cardiac conduction abnormality, Atrial flutter, Abnormal left ventricular... ORPHA:300751
Mitochondrial Complex I Deficiency, Nuclear Type 11
Congestive heart failure, Hypertrophic cardiomyopathy OMIM:618234
Morbid Obesity And Spermatogenic Failure
Myocardial infarction, Congestive heart failure, Hypertension OMIM:615703
Combined Oxidative Phosphorylation Deficiency 22
Pulmonary arterial hypertension, Congestive heart failure OMIM:616045
Familial Cutaneous Collagenoma
Angina pectoris, Congestive heart failure, Cardiomyopathy ORPHA:53296
Endocardial Fibroelastosis
Restrictive cardiomyopathy, Congestive heart failure ORPHA:2022
Naxos Disease
Arrhythmia, Sudden cardiac death, Congestive heart failure, Paroxysmal ventricular tachycardia, C... ORPHA:34217
Maternally-Inherited Diabetes And Deafness
Arrhythmia, Congestive heart failure, Hypertension, Hypertrophic cardiomyopathy ORPHA:225
Sandhoff Disease
Congestive heart failure ORPHA:796
Combined Oxidative Phosphorylation Deficiency 28
Congestive heart failure OMIM:616794
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
Arrhythmia, Wolff-Parkinson-White syndrome, Abnormal left ventricular function, Hypertension, Con... OMIM:540000
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma
Dilated cardiomyopathy, Congestive heart failure, Ventricular tachycardia OMIM:605676
Cardiogenic Shock
Low pulse pressure, Right ventricular failure, Hypotension, Abnormal left ventricular function, I... ORPHA:97292
Myopathy, Myosin Storage, Autosomal Recessive
Dilated cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy OMIM:255160
Hemochromatosis, Type 2A
Dilated cardiomyopathy, Arrhythmia, Congestive heart failure, Cardiomyopathy OMIM:602390
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Atrial flutter, Congestive heart failure OMIM:300886
Arterial Calcification, Generalized, Of Infancy, 1
Myocardial infarction, Congestive heart failure, Hypertension OMIM:208000
Desminopathy
Supraventricular arrhythmia, Concentric hypertrophic cardiomyopathy, Sudden cardiac death, Atriov... ORPHA:98909
Hemochromatosis, Type 2B
Congestive heart failure, Cardiomyopathy OMIM:613313
Dyskinesia, Familial, With Facial Myokymia
Dilated cardiomyopathy, Congestive heart failure OMIM:606703
Non-Involuting Congenital Hemangioma
Congestive heart failure, Telangiectasia of the skin ORPHA:141179
Cardiomyopathy, Dilated, 1S
Ventricular arrhythmia, Congestive heart failure, Dilated cardiomyopathy, Tricuspid regurgitation OMIM:613426
Collagenoma, Familial Cutaneous
Atrial fibrillation, Tricuspid regurgitation, Congestive heart failure, Vasculitis, Right ventric... OMIM:115250
Familial Dyskinesia And Facial Myokymia
Dilated cardiomyopathy, Congestive heart failure ORPHA:324588
Aorto-Ventricular Tunnel
Heart murmur, Congestive heart failure ORPHA:3400
Congenital Muscular Dystrophy Due To Lmna Mutation
Congestive heart failure, Arrhythmia ORPHA:157973
3-Methylglutaconic Aciduria, Type V
Noncompaction cardiomyopathy, Sudden cardiac death, Congestive heart failure, Prolonged QT interv... OMIM:610198
Rapidly Involuting Congenital Hemangioma
Congestive heart failure, Telangiectasia of the skin ORPHA:141184
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Low-output congestive heart failure, Hypertrophic cardiomyopathy ORPHA:91130
Myopathy, Congenital, With Structured Cores And Z-Line Abnormalities
Congestive heart failure OMIM:618654
Barth Syndrome
Dilated cardiomyopathy, Arrhythmia, Congestive heart failure, Hypertrophic cardiomyopathy OMIM:302060
Peripartum Cardiomyopathy
Cardiogenic shock, Palpitations, Reduced ejection fraction, Right ventricular failure, Dilated ca... ORPHA:563
Cednik Syndrome
Congestive heart failure ORPHA:66631
Idiopathic Pulmonary Arterial Hypertension
Palpitations, Elevated pulmonary artery pressure, Increased pulmonary vascular resistance, Tricus... ORPHA:275766
Pheochromocytoma--Islet Cell Tumor Syndrome
Positive regitine blocking test, Episodic hypertension, Cerebral hemorrhage, Tachycardia, Congest... OMIM:171420
Atrial Septal Defect, Ostium Secundum Type
Palpitations, Arrhythmia, Bundle branch block, Right ventricular failure, Supraventricular arrhyt... ORPHA:99103
Thiamine-Responsive Megaloblastic Anemia Syndrome
Paroxysmal atrial tachycardia, Congestive heart failure, Cardiac arrest ORPHA:49827
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Congestive heart failure, Bradycardia OMIM:619048
Naxos Disease
Ventricular arrhythmia, Palpitations, Prolonged QRS complex, T-wave inversion, Ventricular extras... OMIM:601214
Cardiac Valvular Dysplasia, X-Linked
Mitral regurgitation, Tricuspid regurgitation, Congestive heart failure, Aortic regurgitation OMIM:314400
Tako-Tsubo Cardiomyopathy
Ventricular arrhythmia, Cardiogenic shock, Palpitations, Arrhythmia, Decreased QRS voltage, Angin... ORPHA:66529
Wild Type Abeta2M Amyloidosis
Congestive heart failure, Gastrointestinal hemorrhage, Arrhythmia ORPHA:85446
Atrial Septal Defect, Ostium Primum Type
Palpitations, Right bundle branch block, Atrial flutter, Third heart sound, Atrial fibrillation, ... ORPHA:99106
Muscular Dystrophy, Duchenne Type
Arrhythmia, Cardiomyopathy, Congestive heart failure, Dilated cardiomyopathy, Abnormal EKG OMIM:310200
Atrioventricular Septal Defect 3
Midsystolic murmur, Hypertension, Congestive heart failure, First degree atrioventricular block, ... OMIM:600309
Wild Type Attr Amyloidosis
Arrhythmia, Orthostatic hypotension due to autonomic dysfunction, Myocardial infarction, Congesti... ORPHA:330001
Congenital Pulmonary Lymphangiectasia
Pulmonary arterial hypertension, Pulmonic stenosis, Congestive heart failure, Tricuspid regurgita... ORPHA:2414
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss
Dilated cardiomyopathy, Congestive heart failure, Hypertension, Hypertrophic cardiomyopathy ORPHA:1349
Drug-Induced Autoimmune Hemolytic Anemia
Congestive heart failure, Tachycardia ORPHA:90037
Non-Functioning Paraganglioma
Palpitations, Hypertension associated with pheochromocytoma, Positive regitine blocking test, Sin... ORPHA:94080
Acquired Aneurysmal Subarachnoid Hemorrhage
Ischemic stroke, ST segment depression, Hypertension, Myocardial infarction, Cerebral hemorrhage,... ORPHA:90065
Hutchinson-Gilford Progeria Syndrome
Angina pectoris, Myocardial infarction, Congestive heart failure OMIM:176670
Babesiosis
Myocardial infarction, Congestive heart failure ORPHA:108
Complete Atrioventricular Septal Defect
Right ventricular failure, Elevated pulmonary artery pressure, Third heart sound, Abnormal atriov... ORPHA:1329
Graves Disease, Susceptibility To, 1
Congestive heart failure OMIM:275000
Pseudoxanthoma Elasticum
Gastrointestinal hemorrhage, Intermittent claudication, Angina pectoris, Restrictive cardiomyopat... OMIM:264800
Maternal Uniparental Disomy Of Chromosome X
Congestive heart failure ORPHA:261519
Familial Atrial Myxoma
Heart murmur, Congestive heart failure, Tricuspid regurgitation ORPHA:615
Hb Bart'S Hydrops Fetalis
Congestive heart failure, Pericarditis ORPHA:163596
Polymyositis
Arrhythmia, Pericarditis, Gastrointestinal hemorrhage, Myocardial infarction, Abnormal atrioventr... ORPHA:732
Immune-Mediated Necrotizing Myopathy
Palpitations, Congestive heart failure, Raynaud phenomenon, Myocarditis ORPHA:206569
Autoimmune Hemolytic Anemia
Arrhythmia, Congestive heart failure ORPHA:98375
Refsum Disease, Classic
Congestive heart failure, Cardiomyopathy, Arrhythmia OMIM:266500
Infantile Sialic Acid Storage Disease
Congestive heart failure OMIM:269920
Glycogen Storage Disease Of Heart, Lethal Congenital
Hypotension, Congestive heart failure, Shortened PR interval, Bradycardia, Cardiomyopathy OMIM:261740
Ebstein Malformation Of The Tricuspid Valve
Arrhythmia, Atrial fibrillation, Sudden cardiac death, Congestive heart failure, Cerebral ischemi... ORPHA:1880
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Congestive heart failure ORPHA:3077
Klippel-Trénaunay Syndrome
Pulmonary embolism, Congestive heart failure, Gastrointestinal hemorrhage, Internal hemorrhage ORPHA:90308
Osteogenesis Imperfecta, Type Ii
Pulmonary insufficiency, Congestive heart failure OMIM:166210
Hemochromatosis, Type 1
Congestive heart failure, Telangiectasia, Cardiomyopathy, Arrhythmia OMIM:235200
Carnitine Deficiency, Systemic Primary
Congestive heart failure, Hypertrophic cardiomyopathy OMIM:212140
American Trypanosomiasis
Arrhythmia, Congestive heart failure, Cardiomyopathy, Myocarditis ORPHA:3386
Pancreatic insufficiency, combined exocrine
Congestive heart failure OMIM:260450
Combined Oxidative Phosphorylation Defect Type 23
Wolff-Parkinson-White syndrome, Congestive heart failure, Severely reduced ejection fraction, Hyp... ORPHA:444013
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy
Arrhythmia, Congestive heart failure, Hypertrophic cardiomyopathy ORPHA:1194
Mitochondrial Complex I Deficiency, Nuclear Type 20
Dilated cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy OMIM:611126
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Atrial flutter, Tricuspid regurgitation, Aortic valve stenosis, Congestive heart failure, Mitral ... ORPHA:324410
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Congestive heart failure, Cardiomyopathy ORPHA:52430
Mulibrey Nanism
Congestive heart failure OMIM:253250
Aarskog-Scott Syndrome
Congestive heart failure ORPHA:915
Hereditary Hemorrhagic Telangiectasia
Conjunctival telangiectasia, Gastrointestinal hemorrhage, Subarachnoid hemorrhage, Epistaxis, Abn... ORPHA:774
Spinal Arteriovenous Metameric Syndrome
Congestive heart failure ORPHA:53721
Friedreich Ataxia
Abnormal EKG, Abnormal echocardiogram, Congestive heart failure, Hypertrophic cardiomyopathy OMIM:229300
Classic Multiminicore Myopathy
Congestive heart failure, Right ventricular failure ORPHA:324604
Autoimmune Hemolytic Anemia, Warm Type
Congestive heart failure, Tachycardia ORPHA:90033
Pheochromocytoma
Positive regitine blocking test, Episodic hypertension, Cerebral hemorrhage, Tachycardia, Congest... OMIM:171300
Fabry Disease
Arrhythmia, Angina pectoris, Hypertension, Myocardial infarction, Congestive heart failure, Trans... OMIM:301500
Polyhydramnios-Megalencephaly-Symptomatic Epilepsy Syndrome
Congestive heart failure ORPHA:500533
Kallmann Syndrome-Heart Disease Syndrome
Aortic regurgitation, Pulmonary insufficiency, Heart murmur, Congestive heart failure, Dilated ca... ORPHA:2326
Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome
Congestive heart failure ORPHA:137608
Sporadic Pheochromocytoma/Secreting Paraganglioma
Palpitations, Hypertension associated with pheochromocytoma, Positive regitine blocking test, Sin... ORPHA:276621
Primary Lipodystrophy
Angina pectoris, Hypertension, Congestive heart failure, Cardiomyopathy ORPHA:90970
Pediatric-Onset Graves Disease
Palpitations, Sinus tachycardia, Atrial fibrillation, Hypertension, Congestive heart failure ORPHA:525731
Eosinophilic Granulomatosis With Polyangiitis
Recurrent intrapulmonary hemorrhage, Hypertension, Myocardial infarction, Congestive heart failur... ORPHA:183
Acyl-Coa Dehydrogenase 9 Deficiency
Cerebellar hemorrhage, Sudden cardiac death, Congestive heart failure, Dilated cardiomyopathy, Hy... ORPHA:99901
Aneurysm Of Sinus Of Valsalva
Heart murmur, Congestive heart failure, Aortic regurgitation ORPHA:1054
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Pulmonary arterial hypertension, Congestive heart failure OMIM:616482
Mitochondrial Trifunctional Protein Deficiency
Arrhythmia, Tricuspid regurgitation, Congestive heart failure, Mitral regurgitation, Cardiomyopathy ORPHA:746
Diffuse Cutaneous Systemic Sclerosis
Pulmonary arterial hypertension, Congestive heart failure, Hypertensive crisis, Telangiectasia of... ORPHA:220393
Acquired Idiopathic Sideroblastic Anemia
Congestive heart failure ORPHA:75564
Microscopic Polyangiitis
Arrhythmia, Pericarditis, Gastrointestinal hemorrhage, Epistaxis, Congestive heart failure, Vascu... ORPHA:727
Pparg-Related Familial Partial Lipodystrophy
Congestive heart failure, Hypertension, Hypertrophic cardiomyopathy ORPHA:79083
Familial Partial Lipodystrophy, Dunnigan Type
Congestive heart failure, Hypertrophic cardiomyopathy ORPHA:2348
Symptomatic Form Of Hemochromatosis Type 1
Arrhythmia, Elevated jugular venous pressure, Congestive heart failure, Portal hypertension, Card... ORPHA:465508
Yellow Fever
Hypotension, Congestive heart failure, Gastrointestinal hemorrhage, Arrhythmia ORPHA:99829
Leigh Syndrome With Cardiomyopathy
Cardiac conduction abnormality, Pulmonic stenosis, Congestive heart failure, Dilated cardiomyopat... ORPHA:70474
Mitochondrial Trifunctional Protein Deficiency
Dilated cardiomyopathy, Congestive heart failure, Arrhythmia OMIM:609015
Schimke Immuno-Osseous Dysplasia
Ischemic stroke, Hypertension, Congestive heart failure, Cerebral ischemia, Pulmonary arterial hy... ORPHA:1830
Congenital Generalized Lipodystrophy
Congestive heart failure, Hypertrophic cardiomyopathy ORPHA:528
Hyperkalemic Periodic Paralysis
Congestive heart failure, Arrhythmia ORPHA:682
Colchicine Poisoning
Cardiogenic shock, Arrhythmia, Hypovolemia, Hypotension, Congestive heart failure, Myocarditis ORPHA:31824
Chronic Thromboembolic Pulmonary Hypertension
Palpitations, Right ventricular failure, Cardiac shunt, Increased pulmonary vascular resistance, ... ORPHA:70591
Martsolf Syndrome 1
Congestive heart failure, Cardiac arrest, Cardiomyopathy OMIM:212720
Congenitally Corrected Transposition Of The Great Arteries
Premature atrial contractions, Cardiac conduction abnormality, Supraventricular tachycardia with ... ORPHA:216694
Gm1-Gangliosidosis, Type I
Dilated cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy OMIM:230500
Histiocytoid Cardiomyopathy
Wolff-Parkinson-White syndrome, Atrial flutter, Atrial fibrillation, Ventricular tachycardia, Atr... ORPHA:137675
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Dilated cardiomyopathy, Portal hypertension, Congestive heart failure ORPHA:367
Multiple Acyl-Coa Dehydrogenase Deficiency
Congestive heart failure, Cardiomyopathy, Arrhythmia ORPHA:26791
Ethylene Glycol Poisoning
Hypotension, Atrial fibrillation, Hypertension, Congestive heart failure, Tachycardia, Prolonged ... ORPHA:31826
Hereditary Pheochromocytoma-Paraganglioma
Palpitations, Hypertension associated with pheochromocytoma, Positive regitine blocking test, Sin... ORPHA:29072
Carney Complex, Type 1
Congestive heart failure OMIM:160980
Capillary Malformation-Arteriovenous Malformation
Epistaxis, Congestive heart failure, Cerebral ischemia, High-output congestive heart failure, Tel... ORPHA:137667
Gm1 Gangliosidosis
Congestive heart failure, Cardiomyopathy ORPHA:354
Tetrasomy 5P
Pulmonary arterial hypertension, Heart murmur, Congestive heart failure ORPHA:3309
Alstrom Syndrome
Dilated cardiomyopathy, Congestive heart failure, Hypertension OMIM:203800
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Ventricular arrhythmia, Supraventricular arrhythmia, Abnormal atrioventricular conduction, Conges... ORPHA:280365
Mucopolysaccharidosis-Plus Syndrome
Congestive heart failure, Hypertrophic cardiomyopathy OMIM:617303
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy
Congestive heart failure, Cardiomyopathy OMIM:619259
Multiple Benign Circumferential Skin Creases On Limbs
Congestive heart failure ORPHA:2505
Scorpion Envenomation
Cardiogenic shock, Arrhythmia, Bundle branch block, Cardiac conduction abnormality, T-wave invers... ORPHA:466677
Arterial Tortuosity Syndrome
Hypertension, Telangiectasia of the skin, Myocardial infarction, Congestive heart failure, Cardia... ORPHA:3342
Chromosome 18Q Deletion Syndrome
Aortic valve stenosis, Congestive heart failure OMIM:601808
Waldenström Macroglobulinemia
Gastrointestinal hemorrhage, Epistaxis, Congestive heart failure, Vasculitis, Retinal hemorrhage ORPHA:33226
Spinal Muscular Atrophy With Congenital Bone Fractures 1
Congestive heart failure, Cardiomyopathy OMIM:616866
Cutis Laxa, Autosomal Recessive, Type Iid
Congestive heart failure, Right bundle branch block, Hypertrophic cardiomyopathy OMIM:617403
African Iron Overload
Congestive heart failure ORPHA:139507
Werner Syndrome
Myocardial infarction, Congestive heart failure, Hypertension, Telangiectasia of the skin ORPHA:902
Fabry Disease
Conjunctival telangiectasia, Arrhythmia, Bundle branch block, Angina pectoris, Mitral regurgitati... ORPHA:324
Lmna-Related Cardiocutaneous Progeria Syndrome
Intracranial hemorrhage, Hypertension, Aortic valve stenosis, Congestive heart failure, Mitral re... ORPHA:363618
Mucopolysaccharidosis, Type Ii
Congestive heart failure OMIM:309900
Aorta Coarctation
Pulmonary arterial hypertension, Congestive heart failure, Hypertension ORPHA:1457
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Tricuspid regurgitation, Congestive heart failure, Tachycardia, Pulmonary arterial hypertension, ... ORPHA:505248
Mitochondrial Complex Iv Deficiency, Nuclear Type 22
Congestive heart failure OMIM:619355
Vici Syndrome
Dilated cardiomyopathy, Congestive heart failure, Cardiomyopathy OMIM:242840
Amoebiasis Due To Entamoeba Histolytica
Congestive heart failure, Constrictive pericarditis ORPHA:67
Avian Influenza
Congestive heart failure ORPHA:454836
Autosomal Dominant Hypocalcemia
Hypotension, Congestive heart failure, Arrhythmia ORPHA:428
Mucolipidosis Ii Alpha/Beta
Heart murmur, Congestive heart failure, Aortic regurgitation, Hypertrophic cardiomyopathy OMIM:252500
Congenital Disorder Of Glycosylation, Type Iie
Congestive heart failure OMIM:608779
Leigh Syndrome
Congestive heart failure, Hypertrophic cardiomyopathy ORPHA:506
Triosephosphate Isomerase Deficiency
Congestive heart failure OMIM:615512
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency
Congestive heart failure, Arterial rupture ORPHA:1900
Friedreich Ataxia And Congenital Glaucoma
Abnormal echocardiogram, Concentric hypertrophic cardiomyopathy, Congestive heart failure, Abnorm... OMIM:229310
Telangiectasia, Hereditary Hemorrhagic, Type 4
Conjunctival telangiectasia, Ischemic stroke, Lip telangiectasia, Spontaneous, recurrent epistaxi... OMIM:610655
Aceruloplasminemia
Congestive heart failure ORPHA:48818
Monosomy 18Q
Left-to-right shunt, Aortic valve stenosis, Congestive heart failure, Mitral regurgitation ORPHA:1600
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Congestive heart failure, Noncompaction cardiomyopathy, Tricuspid regurgitation ORPHA:508542
Mucopolysaccharidosis Type 1
Congestive heart failure, Hypertrophic cardiomyopathy ORPHA:579
Friedreich Ataxia 2
Abnormal EKG, Abnormal echocardiogram, Concentric hypertrophic cardiomyopathy, Congestive heart f... OMIM:601992
Incontinentia Pigmenti
Telangiectasia of the skin, Congestive heart failure, Cerebral ischemia, Pulmonary arterial hyper... ORPHA:464
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
Geleophysic Dysplasia 1
Tricuspid stenosis, Aortic valve stenosis, Congestive heart failure, Mitral stenosis OMIM:231050
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1
Congestive heart failure, Gastrointestinal hemorrhage, Arterial rupture OMIM:225400
Malignant Hyperthermia Of Anesthesia
Supraventricular tachycardia, Ventricular extrasystoles, Ventricular tachycardia, High-output con... ORPHA:423
Idiopathic Hypereosinophilic Syndrome
Supraventricular arrhythmia, Intracranial hemorrhage, Vasculitis in the skin, Pulmonary embolism,... ORPHA:3260
Weill-Marchesani Syndrome 2
Mitral regurgitation, Pulmonic stenosis, Aortic valve stenosis, Congestive heart failure OMIM:608328
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Left ventricular outflow tract obstruction, Left-to-right shunt, Heart murmur, Congestive heart f... ORPHA:99050
Tsh-Secreting Pituitary Adenoma
Ventricular arrhythmia, Palpitations, Supraventricular arrhythmia, Hypotension, Hypertension, Con... ORPHA:91347
Tubular Renal Disease-Cardiomyopathy Syndrome
Sudden cardiac death, Congestive heart failure, Dilated cardiomyopathy ORPHA:73224
Seckel Syndrome 10
Congestive heart failure, Hypertension OMIM:617253
Angioosteohypertrophic Syndrome
Pulmonary embolism, Congestive heart failure, Gastrointestinal hemorrhage, Telangiectasia of the ... ORPHA:2346
Autosomal Recessive Cutis Laxa Type 1
Supravalvular aortic stenosis, Abnormal cardiac ventricular function, Congestive heart failure ORPHA:90349
Triglyceride Deposit Cardiomyovasculopathy
Palpitations, Arrhythmia, Angina pectoris, Low-output congestive heart failure, Cardiomyopathy ORPHA:565612
Abetalipoproteinemia
Congestive heart failure ORPHA:14
Dominant Beta-Thalassemia
Dilated cardiomyopathy, Arrhythmia, High-output congestive heart failure ORPHA:231226
Beta-Thalassemia Intermedia
Pulmonary arterial hypertension, High-output congestive heart failure ORPHA:231222
Spinocerebellar Ataxia Type 7
Congestive heart failure ORPHA:94147
Listeriosis
Congestive heart failure, Arteritis, Pericarditis, Myocarditis ORPHA:533
Hallermann-Streiff Syndrome
Congestive heart failure ORPHA:2108
Telangiectasia, Hereditary Hemorrhagic, Type 1
Conjunctival telangiectasia, Lip telangiectasia, Melena, Cerebral hemorrhage, High-output congest... OMIM:187300
Primary Sclerosing Cholangitis
Portal hypertension, Congestive heart failure, Palmar telangiectasia, Spider hemangioma ORPHA:171
Charcot-Marie-Tooth Peroneal Muscular Atrophy And Friedreich Ataxia, Combined
Abnormal EKG, Abnormal echocardiogram, Concentric hypertrophic cardiomyopathy, Congestive heart f... OMIM:302900
Kawasaki Disease
Arrhythmia, Pericarditis, Congestive heart failure, Myocarditis, Vasculitis ORPHA:2331
Erdheim-Chester Disease
Congestive heart failure ORPHA:35687
Beta-Thalassemia Major
Dilated cardiomyopathy, Arrhythmia, High-output congestive heart failure ORPHA:231214
Marfan Syndrome
Mitral regurgitation, Congestive heart failure, Aortic regurgitation, Tricuspid regurgitation OMIM:154700
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Pulmonary arterial hypertension, Congestive heart failure, Renovascular hypertension ORPHA:391487
Neutral Lipid Storage Myopathy
Congestive heart failure, Cardiomyopathy ORPHA:98908
Scimitar Syndrome
Pulmonary arterial hypertension, Left-to-right shunt, Congestive heart failure, Heart block ORPHA:185
Diamond-Blackfan Anemia 1
Tricuspid stenosis, Congestive heart failure OMIM:105650
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, Pericarditis, Congestive heart failure, Third degree atrioventricular block, Second d... ORPHA:3385
Williams Syndrome
Renovascular hypertension, Hypertension, Sudden cardiac death, Myocardial infarction, Pulmonic st... ORPHA:904
Marfan Syndrome
Congestive heart failure ORPHA:558
Proteasome-Associated Autoinflammatory Syndrome 1
Congestive heart failure, Arrhythmia OMIM:256040
Atypical Werner Syndrome
Aortic valve stenosis, Congestive heart failure, Hypertension, Telangiectasia of the skin ORPHA:79474
Carney Complex
Congestive heart failure, Hypertension associated with pheochromocytoma ORPHA:1359
Parkes Weber Syndrome
Subarachnoid hemorrhage, Bounding pulse, High-output congestive heart failure ORPHA:90307
Singleton-Merten Syndrome 1
Aortic valve stenosis, Congestive heart failure OMIM:182250
Congenital Total Pulmonary Venous Return Anomaly
Right ventricular failure, Tricuspid regurgitation, Tachycardia, Pulmonary arterial hypertension,... ORPHA:99125
Alström Syndrome
Dilated cardiomyopathy, Hypertension, Congestive heart failure, Pulmonary arterial hypertension, ... ORPHA:64
Myh7-Related Late-Onset Scapuloperoneal Muscular Dystrophy
Arrhythmia, Abnormal left ventricular function, Hypertension, Heart murmur, Left anterior fascicu... ORPHA:437572
Familial Isolated Dilated Cardiomyopathy
Dilated cardiomyopathy ORPHA:154
Myopathy, Distal, 1
Dilated cardiomyopathy OMIM:160500
Laing Early-Onset Distal Myopathy
Dilated cardiomyopathy ORPHA:59135
Myopathy, Myosin Storage, Autosomal Dominant
OMIM:608358
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 PMC6671969
Mouse screen reveals multiple new genes underlying mouse and human hearing loss. PLoS biology (April 2019)