banner
Genes Phenotypes Help, News, Blog

Gene: Has2 MGI:107821

Log in to follow
Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
hyaluronan synthase 2
Synonyms:
N/A

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 Has2 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.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Has2 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
His Bundle Tachycardia
Junctional ectopic tachycardia, Cardiomyopathy, Arrhythmia, Neoplasm of the heart ORPHA:3283
Cardiomyopathy, Dilated, 1R
Increased left ventricular end-diastolic volume, Congestive heart failure, Myofiber disarray, Dil... OMIM:613424
Left Ventricular Noncompaction 1
Noncompaction cardiomyopathy, Atrial fibrillation, Ventricular septal defect, Left ventricular no... OMIM:604169
Arrhythmogenic Right Ventricular Dysplasia, Familial, 4
T-wave inversion in the right precordial leads, Focal necrosis of right ventricular muscle cells,... OMIM:602087
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Increased left ventricular end-diastolic volume, Sudden cardiac death, Congestive heart failure, ... OMIM:601493
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Atrial fibrillation, Cardiac arrest, Myofiber disarray, Dilated cardiomyopathy, Atrioventricular ... OMIM:612158
Arrhythmogenic Right Ventricular Dysplasia, Familial, 3
T-wave inversion in the right precordial leads, Focal necrosis of right ventricular muscle cells,... OMIM:602086
Atrial Standstill
Skeletal muscle atrophy, Flexion contracture, Ventricular tachycardia, Mobitz I atrioventricular ... ORPHA:1344
Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant
First degree atrioventricular block, Peroneal muscle atrophy, Limb-girdle muscle weakness, Decrea... OMIM:181350
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11
Right ventricular cardiomyopathy, Sudden cardiac death, Syncope, Palpitations, Ventricular arrhyt... OMIM:610476
Left Ventricular Noncompaction 8
Left ventricular diastolic dysfunction, Congestive heart failure, Dilated cardiomyopathy, Mitral ... OMIM:615373
Cardiomyopathy, Familial Hypertrophic, 29, With Polyglucosan Bodies
Sudden cardiac death, Left ventricular outflow tract obstruction, Systolic anterior motion of the... OMIM:620236
Heart-Hand Syndrome, Slovenian Type
Abnormal atrioventricular conduction, Supraventricular arrhythmia, Dilated cardiomyopathy, Abnorm... ORPHA:168796
Cardiomyopathy, Dilated, 1Gg
Congestive heart failure, Dilated cardiomyopathy, Reduced left ventricular ejection fraction, Lef... OMIM:613642
Left Ventricular Noncompaction 10
Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy... OMIM:615396
Coronary Arterial Fistula
Continuous heart murmur, Bicuspid aortic valve, Cardiomegaly, Pedal edema, Right ventricular dila... ORPHA:2041
Cardiac Conduction Defect
Arrhythmia, Syncope OMIM:115080
Left Ventricular Noncompaction 7
Left ventricular noncompaction, Left ventricular noncompaction cardiomyopathy OMIM:615092
Loeffler Endocarditis
Abnormal morphology of the chordae tendinae of the mitral valve, Aortic regurgitation, Pericardit... ORPHA:75566
Cardiomyopathy, Familial Hypertrophic, 8
Left atrial enlargement, Cardiac arrest, Sudden cardiac death, Congestive heart failure, T-wave i... OMIM:608751
Sick Sinus Syndrome 2
Aortic regurgitation, Paroxysmal atrial fibrillation, Atrial fibrillation, Cardiac arrest, Sudden... OMIM:163800
Muscular Dystrophy, Becker Type
Abnormal EKG, Calf muscle pseudohypertrophy, Cardiomyopathy, Muscular dystrophy, Arrhythmia OMIM:300376
Cataract 46, Juvenile-Onset, With Or Without Arrhythmic Cardiomyopathy
Arrhythmia, Sudden cardiac death OMIM:212500
Congenital Heart Block
First degree atrioventricular block, Gallop rhythm, Pericardial effusion, Congestive heart failur... ORPHA:60041
Combined Oxidative Phosphorylation Deficiency 23
Congestive heart failure, Dilated cardiomyopathy, Arrhythmia, Intrauterine growth retardation, Hy... OMIM:616198
Nathalie Syndrome
Arrhythmia, Short stature ORPHA:2663
Myopathy, X-Linked, With Postural Muscle Atrophy
Skeletal muscle atrophy, Scapular winging, Achilles tendon contracture, Hamstring contractures, E... OMIM:300696
Congenital Myopathy 5 With Cardiomyopathy
Sudden cardiac death, Centrally nucleated skeletal muscle fibers, Congestive heart failure, Atrio... OMIM:611705
Incessant Infant Ventricular Tachycardia
Wolff-Parkinson-White syndrome, Bundle branch block, Prolonged QRS complex, Cardiac arrest, Left ... ORPHA:45453
Supravalvular Aortic Stenosis
Arrhythmia, Supravalvular aortic stenosis ORPHA:3193
Cardiomyopathy, Familial Hypertrophic, 1
Congestive heart failure, Arrhythmia, Subvalvular aortic stenosis, Asymmetric septal hypertrophy OMIM:192600
Long Qt Syndrome 15
Ventricular ectopy, 2:1 atrioventricular block, Cardiac arrest, Polymorphic ventricular tachycard... OMIM:616249
Atrial Septal Defect-Atrioventricular Conduction Defects Syndrome
Bundle branch block, Arrhythmia, Abnormal cardiac septum morphology ORPHA:1479
Cardiomyopathy, Dilated, 1P
Congestive heart failure, Dilated cardiomyopathy, Reduced systolic function, Ventricular arrhythmia OMIM:609909
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency
Ventricular hypertrophy, Decreased muscle mass, Decreased muscle glycogen content, ST segment ele... ORPHA:263297
Cardiomyopathy, Dilated, 1E
Atrial flutter, Atrial fibrillation, Reduced systolic function, Atrial standstill, Dilated cardio... OMIM:601154
Congenitally Corrected Transposition Of The Great Arteries
Wolff-Parkinson-White syndrome, Atrial situs ambiguous, First degree atrioventricular block, Hear... ORPHA:216694
Cardiomyopathy, Familial Hypertrophic, 27
Prolonged QT interval, Tricuspid regurgitation, Cardiac arrest, Nonimmune hydrops fetalis, Cardio... OMIM:618052
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome
Abnormal heart valve morphology, Pulmonary embolism, Congestive heart failure, Hypertension, Arrh... ORPHA:1345
Cardiomyopathy, Dilated, 1D
Prolonged QT interval, Increased left ventricular end-diastolic volume, Atrial fibrillation, Sudd... OMIM:601494
Cardiomyopathy, Familial Hypertrophic, 10
Sudden cardiac death, Ventricular tachycardia, Ventricular septal hypertrophy, Asymmetric septal ... OMIM:608758
Atrial Septal Defect, Sinus Venosus Type
Automatic atrial tachycardia, Atrial flutter, Tricuspid regurgitation, Left-to-right shunt, Atria... ORPHA:99105
Fixed Subaortic Stenosis
Paroxysmal atrial fibrillation, Bicuspid aortic valve, Cardiomegaly, Bacterial endocarditis, Atri... ORPHA:3092
Cardiomyopathy, Familial Hypertrophic, 11
Atrial flutter, Angina pectoris, Cardiac arrest, Congestive heart failure, Ventricular tachycardi... OMIM:612098
Naxos Disease
Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Prolonged ... OMIM:601214
Ebstein Malformation Of The Tricuspid Valve
Abnormal endocardium morphology, Atrial fibrillation, Sudden cardiac death, Congestive heart fail... ORPHA:1880
Cardiomyopathy, Familial Hypertrophic, 16
Atrial fibrillation, Sudden cardiac death, Ventricular tachycardia, Left bundle branch block, Asy... OMIM:613838
Cardiomyopathy, Familial Hypertrophic, 6
Wolff-Parkinson-White syndrome, Atrial fibrillation, Prolonged QRS complex, Congestive heart fail... OMIM:600858
Cardiac Diverticulum
Bicuspid aortic valve, Bicuspid pulmonary valve, Ventricular tachycardia, Atrial septal defect, P... ORPHA:1686
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant
Scapular winging, Centrally nucleated skeletal muscle fibers, Proximal amyotrophy, Cardiomyopathy... OMIM:612999
Cardiomyopathy, Familial Hypertrophic, 4
First degree atrioventricular block, Cardiomegaly, Atrioventricular block, Left bundle branch blo... OMIM:115197
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy
Paroxysmal atrial fibrillation, Reduced systolic function, Bidirectional ventricular tachycardia,... OMIM:604772
Mitochondrial Complex Iv Deficiency, Nuclear Type 13
Aortic regurgitation, Tricuspid regurgitation, Patent ductus arteriosus, Reduced left ventricular... OMIM:616501
Partial Atrioventricular Septal Defect
Atrial flutter, Bicuspid aortic valve, Angina pectoris, Coronary sinus enlargement, Partial atrio... ORPHA:1330
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5
Right ventricular cardiomyopathy, Prolonged QRS complex, Sudden cardiac death, Congestive heart f... OMIM:604400
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Sinoatrial block, Atrial flutter, Atrial fibrillation, Sudden cardiac death, Cardiac conduction a... ORPHA:300751
Peripartum Cardiomyopathy
Ventricular tachycardia, Left bundle branch block, Pedal edema, Right ventricular dilatation, Abn... ORPHA:563
Attrv122I Amyloidosis
Abnormal EKG, Angina pectoris, Abnormal atrioventricular conduction, Cardiomegaly, Congestive hea... ORPHA:85451
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
Short stature, Ragged-red muscle fibers, Flexion contracture, Dilated cardiomyopathy, Left ventri... OMIM:252011
Polyvalvular Heart Disease Syndrome
Tricuspid regurgitation, Abnormal heart valve morphology, Short stature, Mitral valve prolapse, P... ORPHA:228410
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
Wolff-Parkinson-White syndrome, Congestive heart failure, Ragged-red muscle fibers, Abnormal left... OMIM:540000
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Atrial flutter, Tachycardia, Atrial fibrillation, Cardiac arrest, Congestive heart failure, Dilat... OMIM:616117
Hydrops Fetalis
Nonimmune hydrops fetalis, Polyhydramnios, Lymphedema, Pericardial effusion, Capillary leak, Abno... ORPHA:1041
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies
Arrhythmia, Short stature, Camptodactyly OMIM:618453
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12
Right ventricular cardiomyopathy, Prolonged QRS complex, Ventricular tachycardia, T-wave inversio... OMIM:611528
Familial Isolated Restrictive Cardiomyopathy
Atrial fibrillation, Tricuspid regurgitation, Left atrial enlargement, Supraventricular arrhythmi... ORPHA:75249
Maternally-Inherited Diabetes And Deafness
Hypertension, Hypertrophic cardiomyopathy, Congestive heart failure, Arrhythmia ORPHA:225
Combined Oxidative Phosphorylation Deficiency 31
Increased variability in muscle fiber diameter, Hypertrophic cardiomyopathy, Left ventricular non... OMIM:617228
Cirrhotic Cardiomyopathy
Prolonged QT interval, Elevated jugular venous pressure, Pulmonary edema, Left atrial enlargement... ORPHA:57777
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy
Abnormal pulmonary valve morphology, Camptodactyly of finger, Congestive heart failure, Flexion c... ORPHA:1194
Cardiomyopathy, Dilated, 1A
Atrial flutter, Atrial fibrillation, Sudden cardiac death, First degree atrioventricular block, P... OMIM:115200
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14
Ventricular tachycardia, Left bundle branch block, Premature ventricular contraction, Right ventr... OMIM:618920
Attrv30M Amyloidosis
Cardiomyopathy, Arrhythmia, Atrioventricular block, Cardiomegaly ORPHA:85447
Idiopathic/Heritable Pulmonary Arterial Hypertension
Tricuspid regurgitation, Abnormal cardiovascular system physiology, Heart murmur, Pedal edema, Ri... ORPHA:422
Combined Oxidative Phosphorylation Deficiency 20
Hypertrophic cardiomyopathy, Left ventricular noncompaction OMIM:615917
Idiopathic Neonatal Atrial Flutter
Abnormal EKG, Abnormal atrioventricular conduction, Hydrops fetalis, Abnormal left ventricular fu... ORPHA:45452
Congenital Gerbode Defect
Elevated right atrial pressure, Tricuspid regurgitation, Ventricular septal defect, Left-to-right... ORPHA:99095
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9
Fibrofatty replacement of right ventricular myocardium, Right ventricular cardiomyopathy, Prolong... OMIM:609040
Atrial Septal Defect, Ostium Secundum Type
Bundle branch block, First degree atrioventricular block, Pedal edema, Right ventricular dilatati... ORPHA:99103
Cardiomyopathy, Dilated, 1S
Tricuspid regurgitation, Bicuspid aortic valve, Sudden cardiac death, Congestive heart failure, D... OMIM:613426
Naxos Disease
Sudden cardiac death, Congestive heart failure, Cardiomyopathy, Paroxysmal ventricular tachycardi... ORPHA:34217
Leber Hereditary Optic Neuropathy
Myopathy, Arrhythmia, Ventricular preexcitation, Retinal telangiectasia ORPHA:104
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10
Right ventricular cardiomyopathy, Sudden cardiac death, Ventricular tachycardia, Premature ventri... OMIM:610193
Hemochromatosis, Type 2A
Cardiomyopathy, Arrhythmia, Dilated cardiomyopathy, Congestive heart failure OMIM:602390
Classical-Like Ehlers-Danlos Syndrome Type 1
Gastrointestinal hemorrhage, Skeletal muscle atrophy, Mitral valve prolapse, Arrhythmia, Spina bi... ORPHA:230839
Thiamine-Responsive Megaloblastic Anemia Syndrome
Ventricular septal defect, Short stature, Situs inversus totalis, Cardiomyopathy, Atrial septal d... OMIM:249270
Cardiomyopathy, Familial Hypertrophic, 17
Atrial fibrillation, Angina pectoris, Ventricular tachycardia, Myocardial fibrosis, Palpitations,... OMIM:613873
Tropical Endomyocardial Fibrosis
Prolonged QRS complex, Restrictive cardiomyopathy, Cardiomegaly, Atrioventricular block, Left bun... ORPHA:75565
Propionic Acidemia
Cardiomyopathy, Arrhythmia ORPHA:35
Dk1-Cdg
Short stature, Congestive heart failure, Dilated cardiomyopathy, Cardiomyocyte hypertrophy, Inter... ORPHA:91131
Tako-Tsubo Cardiomyopathy
Prolonged QTc interval, Mildly reduced left ventricular ejection fraction, Bradycardia, Hypotensi... ORPHA:66529
Familial Idiopathic Dilatation Of The Right Atrium
Abnormal cardiac ventricular function, Paroxysmal atrial fibrillation, Tricuspid regurgitation, A... ORPHA:1677
Congenital Left Ventricular Aneurysm
Congestive heart failure, Abnormal ST segment, Abnormal left ventricle morphology, Abnormal T-wav... ORPHA:1055
Symmetrical Thalamic Calcifications
Arrhythmia, Polyhydramnios ORPHA:1314
Atrial Septal Defect, Ostium Primum Type
First degree atrioventricular block, Atrioventricular block, Right ventricular dilatation, Fixed ... ORPHA:99106
Wild Type Attr Amyloidosis
Abnormal EKG, Myocardial infarction, Congestive heart failure, Pedal edema, Pleural effusion, Bra... ORPHA:330001
Craniofaciofrontodigital Syndrome
Gastrointestinal hemorrhage, Persistent fetal circulation, Bicuspid aortic valve, Ventricular sep... ORPHA:363705
Noonan Syndrome With Multiple Lentigines
Abnormal endocardium morphology, Bundle branch block, Scapular winging, Short stature, Abnormal p... ORPHA:500
Pericardial And Diaphragmatic Defect
Bicuspid aortic valve, Congenital diaphragmatic hernia, Patent ductus arteriosus, Abnormal heart ... ORPHA:2847
Dystonia 23
Arrhythmia, Torticollis OMIM:614860
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
Short stature, Spina bifida occulta, Perimembranous ventricular septal defect, Transposition of t... OMIM:617877
Atrial Septal Defect, Coronary Sinus Type
Unroofed coronary sinus, Bundle branch block, Left-to-right shunt, Abnormally loud pulmonic compo... ORPHA:99104
Muscular Dystrophy, Duchenne Type
Abnormal EKG, Calf muscle pseudohypertrophy, Congestive heart failure, Achilles tendon contractur... OMIM:310200
Cardiomyopathy, Dilated, 1Nn
Increased left ventricular end-diastolic volume, Congestive heart failure, Abnormal ST segment, D... OMIM:615916
Mitochondrial Dna Depletion Syndrome 11
Facial palsy, Ragged-red muscle fibers, Dilated cardiomyopathy, Proximal amyotrophy, Generalized ... OMIM:615084
Brugada Syndrome
Tachycardia, Cardiac arrest, First degree atrioventricular block, Trifascicular block, ST segment... ORPHA:130
Phosphoribosylpyrophosphate Synthetase Superactivity
Cardiomyopathy, Arrhythmia, Hypertension ORPHA:3222
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome
Ventricular escape rhythm, Sick sinus syndrome, Bradycardia, Prolonged PR interval, Arrhythmia, P... ORPHA:542306
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Tricuspid regurgitation, Left ventricular systolic dysfunction, Dilated cardiomyopathy, Mitral re... OMIM:619167
Muscular Dystrophy, Progressive Pectorodorsal
Scapular winging, Arrhythmia, Shoulder girdle muscle weakness, Muscular dystrophy OMIM:310095
Hemochromatosis, Type 4
Cardiomyopathy, Arrhythmia OMIM:606069
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3
Prolonged QT interval, Bidirectional ventricular tachycardia, Cardiac arrest, Polymorphic ventric... OMIM:614021
Noonan Syndrome 5
Short stature, Polyhydramnios, Arrhythmia, Pulmonic stenosis, Atrial septal defect, Hypertrophic ... OMIM:611553
Familial Progressive Cardiac Conduction Defect
Bundle branch block, Heart block, Congestive heart failure, Syncope, Arrhythmia ORPHA:871
Hemochromatosis, Type 1
Cardiomegaly, Congestive heart failure, Telangiectasia, Cardiomyopathy, Pleural effusion, Arrhyth... OMIM:235200
Polymyositis
Gastrointestinal hemorrhage, Pericarditis, Abnormal atrioventricular conduction, Myocardial infar... ORPHA:732
Hec Syndrome
Cardiomyopathy, Arrhythmia, Polyhydramnios, Endocardial fibroelastosis ORPHA:2119
Neonatal Lupus Erythematosus
Prolonged QT interval, Heart block, Dilated cardiomyopathy, Atrioventricular block, Abnormal hear... ORPHA:398124
Rheumatic Fever
Pericarditis, Abnormal heart valve morphology, Epistaxis, Myocarditis, Aplasia/Hypoplasia of the ... ORPHA:3099
Cardiac Valvular Dysplasia 2
Aortic regurgitation, Increased left ventricular end-diastolic volume, Tricuspid regurgitation, B... OMIM:620067
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Prolonged QT interval, Exercise-induced rhabdomyolysis, Tachycardia, Ventricular septal defect, P... ORPHA:26793
Infantile Refsum Disease
Cardiomyopathy, Arrhythmia, Short stature, Facial palsy ORPHA:772
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3
Ragged-red muscle fibers, Limb muscle weakness, Cardiomyopathy, Bradycardia, Arrhythmia, EMG: myo... OMIM:609286
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Ragged-red muscle fibers, Dilated cardiomyopathy, Myopathy, Generalized amyotrophy, Weakness of f... ORPHA:352447
Subaortic Stenosis-Short Stature Syndrome
Arrhythmia, Short stature, Membranous subvalvular aortic stenosis, Subvalvular aortic stenosis ORPHA:3191
Refsum Disease, Classic
Cardiomegaly, Congestive heart failure, Limb muscle weakness, Cardiomyopathy, Arrhythmia OMIM:266500
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2
Growth delay, Hypertension, Intrauterine growth retardation, Arrhythmia, Neonatal death, Umbilica... OMIM:614052
Carnitine Palmitoyl Transferase 1A Deficiency
Skeletal muscle atrophy, Hypertrophic cardiomyopathy, Arrhythmia, Sudden cardiac death ORPHA:156
Fabry Disease
Angina pectoris, Transient ischemic attack, Myocardial infarction, Lymphedema, Congestive heart f... OMIM:301500
Barth Syndrome
Increased left ventricular end-diastolic volume, Tricuspid regurgitation, Congestive heart failur... OMIM:302060
Atrial Standstill 2
Atrial cardiomyopathy, Absent P wave, Atrial standstill, Dilatation of the ventricular cavity, Ca... OMIM:615745
Al Amyloidosis
Gastrointestinal hemorrhage, Abnormal EKG, Abnormal cardiac ventricle morphology, Jaw claudicatio... ORPHA:85443
Congenital Muscular Dystrophy Due To Lmna Mutation
Skeletal muscle atrophy, Congestive heart failure, Flexion contracture, Myopathy, Arrhythmia ORPHA:157973
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive
Elbow flexion contracture, Joint contracture, Muscular dystrophy, Generalized amyotrophy, Arrhythmia OMIM:616516
American Trypanosomiasis
Edema, Periorbital edema, Myocarditis, Congestive heart failure, Cardiomyopathy, Arrhythmia ORPHA:3386
Eisenmenger Syndrome
Ventricular tachycardia, Pedal edema, Aortopulmonary window, Bacterial endocarditis, Supraventric... ORPHA:97214
Wolff-Parkinson-White Syndrome
Wolff-Parkinson-White syndrome, Atrial flutter, Paroxysmal atrial fibrillation, Prolonged QRS com... OMIM:194200
Systemic Capillary Leak Syndrome
Pericarditis, Myocarditis, Pedal edema, Pleural effusion, Hypotension, Arrhythmia, Pulmonary edema ORPHA:188
Isolated Atp Synthase Deficiency
Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Short stature, Arrhythmia ORPHA:254913
Ataxia With Vitamin E Deficiency
Skeletal muscle atrophy, Hypertrophic cardiomyopathy, Arrhythmia ORPHA:96
Laubry-Pezzi Syndrome
Aortic regurgitation, Aortic valve prolapse, Bicuspid aortic valve, Ventricular septal defect, Ab... ORPHA:99094
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Skeletal muscle atrophy, Cardiomegaly, Myopathy, Distal arthrogryposis, Arrhythmia ORPHA:42
Chromosome 2Q37 Deletion Syndrome
Arrhythmia, Short stature, Subvalvular aortic stenosis OMIM:600430
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form
Ventricular hypertrophy, Rhabdomyolysis, Cardiomyopathy, Myopathy, Arrhythmia ORPHA:228305
Idiopathic Pulmonary Arterial Hypertension
Tricuspid regurgitation, Edema of the dorsum of feet, Increased pulmonary vascular resistance, Co... ORPHA:275766
Wild Type Abeta2M Amyloidosis
Gastrointestinal hemorrhage, Congestive heart failure, Abnormal tendon morphology, Macroglossia, ... ORPHA:85446
19P13.12 Microdeletion Syndrome
Aortic regurgitation, Ventricular septal defect, Mitral regurgitation, Atrial septal defect, Arth... ORPHA:254346
Lymphedema-Distichiasis Syndrome
Predominantly lower limb lymphedema, Ventricular septal defect, Nonimmune hydrops fetalis, Lymphe... OMIM:153400
Kearns-Sayre Syndrome
Short stature, Ragged-red muscle fibers, Cardiomyopathy, Third degree atrioventricular block, Arr... OMIM:530000
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2K
Hand muscle atrophy, Skeletal muscle atrophy, Arrhythmia ORPHA:99944
Mitochondrial Trifunctional Protein Deficiency 1
Congestive heart failure, Rhabdomyolysis, Dilated cardiomyopathy, Hydrops fetalis, Myopathy, Arrh... OMIM:609015
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome
Arrhythmia, Short stature, Camptodactyly of finger ORPHA:2928
Singleton-Merten Syndrome 2
Aortic valve calcification, Aortic valve stenosis, Short stature, Arrhythmia OMIM:616298
Ogden Syndrome
Torticollis, Ventricular septal defect, Postnatal growth retardation, Cardiogenic shock, Arrhythmia ORPHA:276432
Hidrotic Ectodermal Dysplasia, Christianson-Fourie Type
Arrhythmia ORPHA:1808
Mitochondrial Trifunctional Protein Deficiency
Tricuspid regurgitation, Congestive heart failure, Rhabdomyolysis, Cardiomyopathy, Mitral regurgi... ORPHA:746
Primary Triglyceride Deposit Cardiomyovasculopathy
Angina pectoris, Increased muscle lipid content, Abnormality of the calf musculature, Low-output ... ORPHA:565612
Pagod Syndrome
Encephalocele, Short stature, Spina bifida, Sudden cardiac death, Situs inversus totalis, Congeni... ORPHA:991
Carnitine Palmitoyltransferase I Deficiency
Arrhythmia, Cardiomegaly OMIM:255120
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2
Postnatal growth retardation, Atrial septal defect, Intrauterine growth retardation, Arrhythmia, ... OMIM:619184
Multiple Acyl-Coa Dehydrogenase Deficiency
Skeletal muscle atrophy, Scapular winging, Congestive heart failure, Rhabdomyolysis, Abnormal hea... ORPHA:26791
Jervell And Lange-Nielsen Syndrome
Syncope, Torsade de pointes, Arrhythmia, Prolonged QTc interval, Ventricular fibrillation ORPHA:90647
Symptomatic Form Of Hfe-Related Hemochromatosis
Decreased muscle mass, Portal hypertension, Cardiomegaly, Congestive heart failure, Cardiomyopath... ORPHA:465508
Fabry Disease
Abnormal endocardium morphology, Conjunctival telangiectasia, Bundle branch block, Angina pectori... ORPHA:324
Progressive Familial Heart Block, Type Ib
Prolonged QT interval, Shortened PR interval, Atrioventricular block, Right bundle branch block, ... OMIM:604559
Glycogen Storage Disease Due To Aldolase A Deficiency
Exercise-induced rhabdomyolysis, Decreased muscle mass, EMG: myopathic abnormalities, Viral infec... ORPHA:57
Ogden Syndrome
Bicuspid aortic valve, Cardiomegaly, Secundum atrial septal defect, Lymphedema, Ventricular tachy... OMIM:300855
Carnitine-Acylcarnitine Translocase Deficiency
Rhabdomyolysis, Ventricular tachycardia, Cardiomyopathy, Hypotension, Arrhythmia ORPHA:159
Mgat2-Cdg
Ventricular septal defect, Patent ductus arteriosus, Hydrops fetalis, Abnormal heart morphology, ... ORPHA:79329
Autosomal Dominant Progressive External Ophthalmoplegia
Atrial fibrillation, Facial palsy, Edema, Quadriceps muscle weakness, Dilated cardiomyopathy, Rag... ORPHA:254892
Juvenile Dermatomyositis
Gastrointestinal hemorrhage, Bundle branch block, Pericarditis, Myositis, Angina pectoris, Telang... ORPHA:93672
Car T Cell Therapy-Associated Cytokine Release Syndrome
Tachycardia, Heart block, Capillary leak, Pleural effusion, Reduced left ventricular ejection fra... ORPHA:542323
Liddle Syndrome
Hypertension, Arrhythmia, Cerebral ischemia ORPHA:526
Agel Amyloidosis
Facial palsy, Edema, Xerostomia, Cardiomyopathy, Blepharochalasis, Arrhythmia, Orthostatic hypote... ORPHA:85448
Legionnaires Disease
Pericarditis, Myocarditis, Endocarditis, Hypotension, Arrhythmia ORPHA:549
Ileal Neuroendocrine Tumor
Tricuspid stenosis, Edema, Right ventricular failure, Arterial occlusion, Palpitations, Hypotensi... ORPHA:100078
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Myositis, Absent muscle fiber merosin, Facial palsy, Flexion contracture, Cardiomyopathy, Macrogl... ORPHA:258
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type)
Skeletal muscle atrophy, Type 2 muscle fiber predominance, Growth delay, Arrhythmia, Hypertrophic... OMIM:615471
Specc1L-Related Hypertelorism Syndrome
Ventricular septal defect, Patent ductus arteriosus, Atrial septal defect, Umbilical hernia, Arrh... ORPHA:1519
Sudden Infant Death-Dysgenesis Of The Testes Syndrome
Growth delay, Arrhythmia, Cardiac arrest ORPHA:168593
Mucopolysaccharidosis Type 2
Abnormal heart valve morphology, Abnormal pulmonary valve morphology, Short stature, Abnormal hea... ORPHA:580
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, Cardiomegaly, Patent du... OMIM:300967
Scorpion Envenomation
Bundle branch block, Tachycardia, Cardiac conduction abnormality, Edema, Myocarditis, Congestive ... ORPHA:466677
Thrombotic Thrombocytopenic Purpura
Arrhythmia, Myocardial infarction ORPHA:54057
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Cardiomegaly, Dilated cardiomyopathy, Increased muscle lipid content, Elbow flexion contracture, ... OMIM:608836
Phakomatosis Pigmentokeratotica
Rhabdomyosarcoma, Spina bifida, Raynaud phenomenon, Lymphedema, Arrhythmia ORPHA:2874
Mucopolysaccharidosis Type 2, Severe Form
Abnormal heart valve morphology, Abnormal pulmonary valve morphology, Camptodactyly of finger, Sh... ORPHA:217085
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 5
Arrhythmia, Mildly reduced left ventricular ejection fraction OMIM:618098
Typhoid
Gastrointestinal hemorrhage, Arrhythmia, Epistaxis, Cardiac arrest ORPHA:99745
Mucopolysaccharidosis Type 2, Attenuated Form
Abnormal heart valve morphology, Abnormal pulmonary valve morphology, Camptodactyly of finger, Sh... ORPHA:217093
Microscopic Polyangiitis
Gastrointestinal hemorrhage, Pericarditis, Epistaxis, Congestive heart failure, Vasculitis, Arrhy... ORPHA:727
Familial Multiple Nevi Flammei
Intracranial hemorrhage, Arrhythmia, Edema, Pulmonary embolism ORPHA:624
Acquired Methemoglobinemia
Tachycardia, Syncope, Palpitations, Arrhythmia ORPHA:464453
Giant Cell Arteritis
Pericarditis, Epistaxis, Sudden cardiac death, Vasculitis, Cerebral ischemia, Arrhythmia, Double ... ORPHA:397
Spontaneous Periodic Hypothermia
Arrhythmia ORPHA:29822
Linear Skin Defects With Multiple Congenital Anomalies 1
Overriding aorta, Ventricular septal defect, Short stature, Congenital diaphragmatic hernia, Junc... OMIM:309801
Colchicine Poisoning
Myocarditis, Congestive heart failure, Hypovolemia, Dehydration, Hypotension, Cardiogenic shock, ... ORPHA:31824
Heart-Hand Syndrome Type 2
Arrhythmia ORPHA:1350
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Cardiomegaly, Heart block, Cardiomyopathy, Abnormal myocardium morphology, Arrhythmia ORPHA:228308
Kleefstra Syndrome
Ventricular septal defect, Bicuspid aortic valve, Short stature, Macroglossia, Arrhythmia, Tetral... ORPHA:261494
Lymphedema-Distichiasis Syndrome
Patent ductus arteriosus, Predominantly lower limb lymphedema, Arrhythmia ORPHA:33001
Spinocerebellar Ataxia, Autosomal Recessive 23
Arrhythmia OMIM:616949
Spinocerebellar Ataxia, Autosomal Recessive 33
Arrhythmia OMIM:620208
Dominant Beta-Thalassemia
Hypoplasia of the musculature, High-output congestive heart failure, Dilated cardiomyopathy, Grow... ORPHA:231226
Ulnar-Mammary Syndrome
Ventricular septal defect, Camptodactyly of finger, Short stature, Aplasia of the pectoralis majo... ORPHA:3138
Oculodentodigital Dysplasia
Umbilical hernia, Arrhythmia, Ventricular septal defect, Camptodactyly of finger ORPHA:2710
Hyperkalemic Periodic Paralysis
Skeletal muscle atrophy, Congestive heart failure, Flexion contracture, Skeletal muscle hypertrop... ORPHA:682
Holoprosencephaly
Encephalocele, Ventricular septal defect, Abnormal pulmonary valve morphology, Congenital diaphra... ORPHA:2162
Von Hippel-Lindau Disease
Myocardial infarction, Myocarditis, Macular edema, Abnormal left ventricular function, Cardiomyop... ORPHA:892
Lyme Disease
Joint swelling, Arrhythmia, Atrioventricular block ORPHA:91546
Carnitine Palmitoyltransferase Ii Deficiency
Cardiomyopathy, Arrhythmia, Rhabdomyolysis, Myopathy ORPHA:157
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome
Arrhythmia, Short stature, Camptodactyly of finger ORPHA:3201
Familial Isolated Hypoparathyroidism
Myopathy, Arrhythmia, Short stature ORPHA:2238
Generalized Pseudohypoaldosteronism Type 1
Proportionate short stature, Hypovolemic shock, Arrhythmia, Dehydration ORPHA:171876
Spondylometaphyseal Dysplasia, Sedaghatian Type
Myocarditis, Disproportionate short stature, Atrioventricular block, Rhizomelic arm shortening, A... ORPHA:93317
Kawasaki Disease
Pericarditis, Abnormal heart valve morphology, Edema, Myocarditis, Congestive heart failure, Vasc... ORPHA:2331
Alternating Hemiplegia Of Childhood
Facial hypotonia, Cardiac conduction abnormality, Dehydration, Cardiomyopathy, Abnormal T-wave, A... ORPHA:2131
16P11.2P12.2 Microdeletion Syndrome
Tricuspid regurgitation, Short stature, Camptodactyly of finger, Intrauterine growth retardation,... ORPHA:261211
Beta-Thalassemia Major
Hypoplasia of the musculature, High-output congestive heart failure, Dilated cardiomyopathy, Grow... ORPHA:231214
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 4
Facial palsy, Limb muscle weakness, Left bundle branch block, Arrhythmia, Ventricular bigeminy OMIM:610131
Dermatomyositis
Pericarditis, Telangiectasia of the skin, Myocardial infarction, Edema, Periorbital edema, Myocar... ORPHA:221
Genetic Recurrent Myoglobinuria
Proximal muscle weakness in upper limbs, Myositis, Type 2 muscle fiber atrophy, Viral infection-i... ORPHA:99845
Noonan Syndrome
Short stature, Abnormal pulmonary valve morphology, Lymphedema, Aplasia/Hypoplasia of the abdomin... ORPHA:648
Schwartz-Jampel Syndrome
Hip contracture, Skeletal muscle atrophy, Short stature, Shoulder flexion contracture, Polyhydram... ORPHA:800
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Telangiectasia of the skin, Arrhythmia, Cerebral ischemia ORPHA:60040
Microphthalmia With Linear Skin Defects Syndrome
Tricuspid regurgitation, Severe short stature, Congenital diaphragmatic hernia, Dilated cardiomyo... ORPHA:2556
Familial Mediterranean Fever
Pericarditis, Myocardial infarction, Vasculitis, Pedal edema, Arrhythmia, Ascites ORPHA:342
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome
Prolonged QT interval, Abnormal EKG, Acute rhabdomyolysis, EMG: myopathic abnormalities, Arrhythmia ORPHA:480864
Hirschsprung Disease-Ganglioneuroblastoma Syndrome
Prolonged QT interval, Arrhythmia ORPHA:2151
Costello Syndrome
Ventricular septal defect, Short stature, Rhabdomyosarcoma, Polyhydramnios, Achilles tendon contr... OMIM:218040
Neuroleptic Malignant Syndrome
Tachycardia, Pulmonary embolism, Rhabdomyolysis, Dehydration, Hypertension, Bradycardia, Hypotens... ORPHA:94093
Granulomatosis With Polyangiitis
Gastrointestinal hemorrhage, Pericarditis, Recurrent intrapulmonary hemorrhage, Angina pectoris, ... ORPHA:900
Hennekam-Beemer Syndrome
Short stature, Telangiectasia of the skin, Camptodactyly of finger, Hypotension, Arrhythmia ORPHA:2135
Localized Scleroderma
Skeletal muscle atrophy, Raynaud phenomenon, Vasculitis, Flexion contracture, Myopathy, Arrhythmia ORPHA:90289
Simpson-Golabi-Behmel Syndrome, Type 1
Ventricular septal defect, Facial hypotonia, Congenital diaphragmatic hernia, Diastasis recti, Po... OMIM:312870
Oculodentodigital Dysplasia
Atrial septal defect, Arrhythmia, Joint contracture of the 5th finger OMIM:164200
Botulism
Arrhythmia, Xerostomia ORPHA:1267
Tetramelic Deficiencies, Ectodermal Dysplasia, Deformed Ears, And Other Abnormalities
Arrhythmia OMIM:273400
Foodborne Botulism
Arrhythmia, Xerostomia ORPHA:228371
Amoebiasis Due To Free-Living Amoebae
Myocardial necrosis, Arrhythmia, Facial palsy, Cerebral edema ORPHA:68
Carney Triad
Gastrointestinal hemorrhage, Tachycardia, Leiomyosarcoma, Hypertension, Arrhythmia, Ascites ORPHA:139411
Deafness-Enamel Hypoplasia-Nail Defects Syndrome
Arrhythmia, Short stature, Camptodactyly of finger ORPHA:3220
Leber Optic Atrophy
Myopathy, Arrhythmia OMIM:535000
Spondylometaphyseal Dysplasia, Sedaghatian Type
Rhizomelia, Myocarditis, Disproportionate short stature, Atrial septal defect, Arrhythmia OMIM:250220
Proteasome-Associated Autoinflammatory Syndrome 1
Skeletal muscle atrophy, Short stature, Camptodactyly of finger, Cardiomegaly, Congestive heart f... OMIM:256040
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia
Arrhythmia, Short stature OMIM:171480
African Trypanosomiasis
Abnormal EKG, Pericarditis, Myocarditis, Myelopathy, Congestive heart failure, Second degree atri... ORPHA:3385
Leptospirosis
Pericarditis, First degree atrioventricular block, Rhabdomyolysis, Retinal hemorrhage, Subconjunc... ORPHA:509
Phocomelia-Ectrodactyly-Deafness-Sinus Arrhythmia Syndrome
Arrhythmia ORPHA:2878
Wiskott-Aldrich Syndrome
Recurrent intrapulmonary hemorrhage, Epistaxis, Sudden cardiac death, Hematemesis, Vasculitis, In... ORPHA:906
Plague
Tachycardia, Edema, Hematemesis, Endocarditis, Hypotension, Arrhythmia ORPHA:707
Ivic Syndrome
Arrhythmia, Severe short stature ORPHA:2307
Cockayne Syndrome A
Hip contracture, Short stature, Hypertension, Severe postnatal growth retardation, Intrauterine g... OMIM:216400
Cockayne Syndrome B
Severe short stature, Postnatal growth retardation, Hypertension, Intrauterine growth retardation... OMIM:133540
Stickler Syndrome
Skeletal muscle atrophy, Short stature, Mitral valve prolapse, Macroglossia, Arrhythmia ORPHA:828
Ulnar-Mammary Syndrome
Elbow flexion contracture, Arrhythmia, Ventricular septal defect, Delayed puberty OMIM:181450
Autosomal Dominant Hypocalcemia
Congestive heart failure, Arrhythmia, Hypotension ORPHA:428
Spondyloarthropathy, Susceptibility To, 1
Aortic regurgitation, Arrhythmia OMIM:106300
Sarcoidosis
Abnormal cardiac ventricular function, Facial palsy, Portal hypertension, Heart block, Ventricula... ORPHA:797
Hypermobile Ehlers-Danlos Syndrome
Umbilical hernia, Arrhythmia, Aplasia/Hypoplasia of the abdominal wall musculature, Tendon rupture ORPHA:285
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease
Arthrogryposis multiplex congenita, Arrhythmia ORPHA:163746

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 Has2

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 Has2.

There are 1 publication which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Biomimetic tissue models reveal the role of hyaluronan in melanoma proliferation and invasion. Biomaterials science (January 2020) Has2tm2c(KOMP)Mbp Has2tm2a(KOMP)Mbp 31939453

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Has2tm2e(KOMP)Mbp Targeted, non-conditional allele ES Cells
Has2tm1e(KOMP)Mbp Targeted, non-conditional allele ES Cells
Has2tm2a(KOMP)Mbp KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Has2tm1a(KOMP)Mbp KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

The IMPC Newsletter

Get highlights of the most important data releases, news and events, delivered straight to your email inbox

Subscribe to newsletter