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Gene: Has2 MGI:107821

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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, Arrhythmia, Cardiomyopathy, Neoplasm of the heart ORPHA:3283
Cardiomyopathy, Dilated, 1R
Interstitial cardiac fibrosis, Cardiomyocyte hypertrophy, Left ventricular hypertrophy, Left vent... OMIM:613424
Left Ventricular Noncompaction 1
Noncompaction cardiomyopathy, Left ventricular noncompaction cardiomyopathy, Mitral regurgitation... OMIM:604169
Arrhythmogenic Right Ventricular Dysplasia, Familial, 4
Right ventricular cardiomyopathy, Focal necrosis of right ventricular muscle cells, Ventricular a... OMIM:602087
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Left ventricular hypertrophy, Left ventricular noncompaction, Sudden cardiac death, Congestive he... OMIM:601493
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Cardiac arrest, Cardiomyocyte hypertrophy, Left ventricular hypertrophy, Left ventricular noncomp... OMIM:612158
Arrhythmogenic Right Ventricular Dysplasia, Familial, 3
Right ventricular cardiomyopathy, Focal necrosis of right ventricular muscle cells, Ventricular a... OMIM:602086
Atrial Standstill
Reduced left ventricular ejection fraction, Cardiomyopathy, Abnormal heart morphology, Sick sinus... ORPHA:1344
Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant
Reduced left ventricular ejection fraction, Distal lower limb muscle weakness, Achilles tendon co... OMIM:181350
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11
Right ventricular cardiomyopathy, Syncope, Palpitations, Sudden cardiac death, Ventricular arrhyt... OMIM:610476
Left Ventricular Noncompaction 8
Left ventricular diastolic dysfunction, Left ventricular systolic dysfunction, Mitral regurgitati... OMIM:615373
Cardiomyopathy, Familial Hypertrophic, 29, With Polyglucosan Bodies
Asymmetric septal hypertrophy, Cardiomyocyte hypertrophy, Mitral regurgitation, Increased myocard... OMIM:620236
Heart-Hand Syndrome, Slovenian Type
Abnormal electrophysiology of sinoatrial node origin, Arrhythmia, Supraventricular arrhythmia, Di... ORPHA:168796
Cardiomyopathy, Dilated, 1Gg
Reduced left ventricular ejection fraction, Left ventricular noncompaction, Congestive heart fail... OMIM:613642
Left Ventricular Noncompaction 10
Pulmonary arterial hypertension, Left ventricular noncompaction, Syncope, Congestive heart failur... OMIM:615396
Coronary Arterial Fistula
Bacterial endocarditis, Atrial septal defect, Abnormal heart morphology, Angina pectoris, Patent ... ORPHA:2041
Cardiac Conduction Defect
Syncope, Arrhythmia OMIM:115080
Loeffler Endocarditis
Left ventricular diastolic dysfunction, Right bundle branch block, Mitral regurgitation, Left atr... ORPHA:75566
Left Ventricular Noncompaction 7
Left ventricular noncompaction, Left ventricular noncompaction cardiomyopathy OMIM:615092
Cardiomyopathy, Familial Hypertrophic, 8
Cardiac arrest, Left atrial enlargement, Left ventricular hypertrophy, Reduced left ventricular e... OMIM:608751
Sick Sinus Syndrome 2
Prolonged QTc interval, Cardiac arrest, Paroxysmal atrial fibrillation, Left ventricular hypertro... OMIM:163800
Muscular Dystrophy, Becker Type
Abnormal EKG, Muscular dystrophy, Cardiomyopathy, Arrhythmia, Calf muscle pseudohypertrophy OMIM:300376
Cataract 46, Juvenile-Onset, With Or Without Arrhythmic Cardiomyopathy
Arrhythmia, Sudden cardiac death OMIM:212500
Nathalie Syndrome
Arrhythmia, Short stature ORPHA:2663
Combined Oxidative Phosphorylation Deficiency 23
Arrhythmia, Intrauterine growth retardation, Congestive heart failure, Dilated cardiomyopathy, Hy... OMIM:616198
Myopathy, X-Linked, With Postural Muscle Atrophy
Arrhythmia, Hamstring contractures, Skeletal muscle atrophy, Skeletal muscle hypertrophy, EMG: my... OMIM:300696
Congenital Myopathy 5 With Cardiomyopathy
Minicore myopathy, Myopathy, Calf muscle hypertrophy, Arrhythmia, Severely reduced left ventricul... OMIM:611705
Incessant Infant Ventricular Tachycardia
Cardiac arrest, Ventricular tachycardia, Prolonged QRS complex, Wolff-Parkinson-White syndrome, L... ORPHA:45453
Supravalvular Aortic Stenosis
Arrhythmia, Supravalvular aortic stenosis ORPHA:3193
Cardiomyopathy, Familial Hypertrophic, 1
Asymmetric septal hypertrophy, Arrhythmia, Congestive heart failure, Subvalvular aortic stenosis OMIM:192600
Atrial Septal Defect-Atrioventricular Conduction Defects Syndrome
Arrhythmia, Abnormal cardiac septum morphology, Bundle branch block ORPHA:1479
Long Qt Syndrome 15
Prolonged QTc interval, Cardiac arrest, Left ventricular noncompaction, Syncope, Ventricular bige... OMIM:616249
Cardiomyopathy, Dilated, 1P
Reduced systolic function, Congestive heart failure, Dilated cardiomyopathy, Ventricular arrhythmia OMIM:609909
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency
ST segment elevation, Cardiomyocyte hypertrophy, Ventricular tachycardia, Shoulder girdle muscle ... ORPHA:263297
Cardiomyopathy, Dilated, 1E
Reduced left ventricular ejection fraction, Syncope, Palpitations, Supraventricular tachycardia, ... OMIM:601154
Cardiomyopathy, Familial Hypertrophic, 27
Cardiac arrest, Left ventricular diastolic dysfunction, Cardiomyocyte hypertrophy, Concentric hyp... OMIM:618052
Congenitally Corrected Transposition Of The Great Arteries
Situs inversus totalis, Atrial situs ambiguous, Wolff-Parkinson-White syndrome, Atrial septal def... ORPHA:216694
Familial Dilated Cardiomyopathy
Left ventricular systolic dysfunction, Mitral regurgitation, Reduced left ventricular ejection fr... ORPHA:217607
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome
Arrhythmia, Pulmonary embolism, Hypertension, Abnormal heart valve morphology, Congestive heart f... ORPHA:1345
Fixed Subaortic Stenosis
Bacterial endocarditis, Ventricular septal defect, Atrioventricular canal defect, Left ventricula... ORPHA:3092
Cardiomyopathy, Familial Hypertrophic, 11
Cardiac arrest, Left anterior fascicular block, Ventricular tachycardia, Left ventricular hypertr... OMIM:612098
Cardiomyopathy, Familial Hypertrophic, 10
Asymmetric septal hypertrophy, Ventricular tachycardia, Left ventricular hypertrophy, Palpitation... OMIM:608758
Atrial Septal Defect, Sinus Venosus Type
Right bundle branch block, Pulmonary arterial hypertension, Systolic heart murmur, Automatic atri... ORPHA:99105
Cardiomyopathy, Dilated, 1D
Reduced left ventricular ejection fraction, Left ventricular hypertrophy, Left ventricular noncom... OMIM:601494
Cardiomyopathy, Familial Hypertrophic, 16
Asymmetric septal hypertrophy, Ventricular tachycardia, Reduced left ventricular ejection fractio... OMIM:613838
Ebstein Malformation Of The Tricuspid Valve
Right bundle branch block, Atrial septal defect, Arrhythmia, Imperforate tricuspid valve, Atrial ... ORPHA:1880
Cardiomyopathy, Familial Hypertrophic, 6
Asymmetric septal hypertrophy, Prolonged QRS complex, Wolff-Parkinson-White syndrome, Syncope, Pa... OMIM:600858
Naxos Disease
Prolonged QRS complex, Abnormal morphology of right ventricular trabeculae, Right ventricular car... OMIM:601214
Cardiomyopathy, Familial Hypertrophic, 4
Cardiac arrest, Reduced left ventricular ejection fraction, Ventricular hypertrophy, Muscular ven... OMIM:115197
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant
Proximal amyotrophy, Myopathy, Arrhythmia, Cardiomyopathy, Muscular dystrophy, Scapular winging, ... OMIM:612999
Cardiac Diverticulum
Abnormality of the diaphragm, Atrial septal defect, Tetralogy of Fallot, Ventricular septal defec... ORPHA:1686
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy
Ventricular tachycardia, Ventricular couplet, Paroxysmal atrial fibrillation, Effort-induced poly... OMIM:604772
Mitochondrial Complex Iv Deficiency, Nuclear Type 13
Reduced left ventricular ejection fraction, Left ventricular noncompaction, Aortic regurgitation,... OMIM:616501
Partial Atrioventricular Septal Defect
Mitral regurgitation, Hypoplastic left heart, Bacterial endocarditis, Tetralogy of Fallot, Syncop... ORPHA:1330
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5
Ventricular tachycardia, Prolonged QRS complex, Right ventricular cardiomyopathy, Palpitations, S... OMIM:604400
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Heart block, Syncope, Supraventricular tachycardia, Sinoatrial block, Muscular dystrophy, Sudden ... ORPHA:300751
Peripartum Cardiomyopathy
Myocarditis, Reduced left ventricular ejection fraction, Abnormal atrioventricular valve morpholo... ORPHA:563
Obsolete: Myh7-Related Late-Onset Scapuloperoneal Muscular Dystrophy
Distal lower limb muscle weakness, Hand muscle weakness, Increased endomysial connective tissue, ... ORPHA:437572
Attrv122I Amyloidosis
Abnormal EKG, Reduced left ventricular ejection fraction, Left ventricular hypertrophy, Arrhythmi... ORPHA:85451
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
Abnormal mitochondria in muscle tissue, Left ventricular noncompaction, Short stature, Dilated ca... OMIM:252011
Polyvalvular Heart Disease Syndrome
Pulmonic stenosis, Arrhythmia, Abnormal heart valve morphology, Short stature, Tricuspid regurgit... ORPHA:228410
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
Wolff-Parkinson-White syndrome, Left ventricular hypertrophy, Myopathy, Arrhythmia, Hypertension,... OMIM:540000
Hydrops Fetalis
Nonimmune hydrops fetalis, Arrhythmia, Polyhydramnios, Capillary leak, Abnormal heart morphology,... ORPHA:1041
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Cardiac arrest, Prolonged QTc interval, Left anterior fascicular block, Atrial fibrillation, Paro... OMIM:616117
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies
Arrhythmia, Camptodactyly, Short stature OMIM:618453
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12
Ventricular tachycardia, Prolonged QRS complex, Right ventricular cardiomyopathy, Syncope, T-wave... OMIM:611528
Cirrhotic Cardiomyopathy
Left ventricular diastolic dysfunction, Third heart sound, Global systolic dysfunction, Reduced l... ORPHA:57777
Familial Isolated Restrictive Cardiomyopathy
Interstitial cardiac fibrosis, Mitral regurgitation, Left atrial enlargement, Syncope, Pulmonary ... ORPHA:75249
Combined Oxidative Phosphorylation Deficiency 31
Left ventricular noncompaction, Increased intramyocellular lipid droplets, Increased variability ... OMIM:617228
Maternally-Inherited Diabetes And Deafness
Arrhythmia, Hypertension, Congestive heart failure, Hypertrophic cardiomyopathy ORPHA:225
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy
Abnormal pulmonary valve morphology, Camptodactyly of finger, Arrhythmia, Intrauterine growth ret... ORPHA:1194
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14
Ventricular tachycardia, Palpitations, Premature ventricular contraction, Left bundle branch bloc... OMIM:618920
Cardiomyopathy, Dilated, 1A
Second degree atrioventricular block, First degree atrioventricular block, Sudden cardiac death, ... OMIM:115200
Attrv30M Amyloidosis
Arrhythmia, Cardiomyopathy, Cardiomegaly, Atrioventricular block ORPHA:85447
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9
Cardiac arrest, Ventricular tachycardia, Fibrofatty replacement of right ventricular myocardium, ... OMIM:609040
Idiopathic/Heritable Pulmonary Arterial Hypertension
Pulmonary arterial hypertension, Syncope, Palpitations, Elevated jugular venous pressure, Tricusp... ORPHA:422
Combined Oxidative Phosphorylation Deficiency 20
Left ventricular noncompaction, Hypertrophic cardiomyopathy OMIM:615917
Congenital Gerbode Defect
Elevated right atrial pressure, Pulmonary arterial hypertension, Systolic heart murmur, Pulmonic ... ORPHA:99095
Idiopathic Neonatal Atrial Flutter
Abnormal EKG, Reduced left ventricular ejection fraction, Hydrops fetalis, Arrhythmia, Supraventr... ORPHA:45452
Atrial Septal Defect, Ostium Secundum Type
Abnormal mitral valve morphology, Tricuspid regurgitation, Transient ischemic attack, Supraventri... ORPHA:99103
Cardiomyopathy, Dilated, 1S
Interstitial cardiac fibrosis, Pulmonary arterial hypertension, Ventricular tachycardia, Mitral r... OMIM:613426
Leber Hereditary Optic Neuropathy
Retinal telangiectasia, Arrhythmia, Ventricular preexcitation, Myopathy ORPHA:104
Naxos Disease
Arrhythmia, Cardiomyopathy, Sudden cardiac death, Congestive heart failure, Paroxysmal ventricula... ORPHA:34217
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10
Ventricular tachycardia, Epsilon wave, Right ventricular cardiomyopathy, Palpitations, Sudden car... OMIM:610193
Classical-Like Ehlers-Danlos Syndrome Type 1
Arrhythmia, Skeletal muscle atrophy, Gastrointestinal hemorrhage, Spina bifida occulta, Mitral va... ORPHA:230839
Hemochromatosis, Type 2A
Arrhythmia, Cardiomyopathy, Congestive heart failure, Dilated cardiomyopathy OMIM:602390
Thiamine-Responsive Megaloblastic Anemia Syndrome
Situs inversus totalis, Atrial septal defect, Ventricular septal defect, Arrhythmia, Cardiomyopat... OMIM:249270
Cardiomyopathy, Familial Hypertrophic, 17
Ventricular tachycardia, Left ventricular hypertrophy, Palpitations, Angina pectoris, Hypertrophi... OMIM:613873
Tropical Endomyocardial Fibrosis
Prolonged QRS complex, Reduced left ventricular ejection fraction, Pulmonary venous hypertension,... ORPHA:75565
Propionic Acidemia
Arrhythmia, Cardiomyopathy ORPHA:35
Dk1-Cdg
Interstitial cardiac fibrosis, Cardiomyocyte hypertrophy, Arrhythmia, Short stature, Congestive h... ORPHA:91131
Tako-Tsubo Cardiomyopathy
Prolonged QTc interval, Angina pectoris, Bradycardia, Atrial fibrillation, Mitral regurgitation, ... ORPHA:66529
Congenital Left Ventricular Aneurysm
Abnormal T-wave, Abnormal left ventricle morphology, Arrhythmia, Abnormal ST segment, Congestive ... ORPHA:1055
Familial Idiopathic Dilatation Of The Right Atrium
Paroxysmal atrial fibrillation, Reduced left ventricular ejection fraction, Syncope, Palpitations... ORPHA:1677
Atrial Septal Defect, Ostium Primum Type
Tricuspid regurgitation, Atrial fibrillation, Pulmonary arterial hypertension, Third heart sound,... ORPHA:99106
Symmetrical Thalamic Calcifications
Polyhydramnios, Arrhythmia ORPHA:1314
Craniofaciofrontodigital Syndrome
Macroglossia, Pulmonary arterial hypertension, Mitral regurgitation, Edema, Atrial septal defect,... ORPHA:363705
Wild Type Attr Amyloidosis
Abnormal EKG, Arrhythmia, Myocardial infarction, Pulmonary edema, Congestive heart failure, Ortho... ORPHA:330001
Noonan Syndrome With Multiple Lentigines
Abnormal pulmonary valve morphology, Aplasia/Hypoplasia of the abdominal wall musculature, Pulmon... ORPHA:500
Pericardial And Diaphragmatic Defect
Aplasia of the left hemidiaphragm, Tetralogy of Fallot, Atrial septal defect, Palpitations, Abnor... ORPHA:2847
Dystonia 23
Arrhythmia, Torticollis OMIM:614860
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
Pulmonic stenosis, Arrhythmia, Paroxysmal supraventricular tachycardia, Perimembranous ventricula... OMIM:617877
Atrial Septal Defect, Coronary Sinus Type
Pulmonary arterial hypertension, Systolic heart murmur, Right ventricular failure, Unroofed coron... ORPHA:99104
Cardiomyopathy, Dilated, 1Nn
Mitral regurgitation, Reduced left ventricular ejection fraction, Abnormal ST segment, Congestive... OMIM:615916
Muscular Dystrophy, Duchenne Type
Abnormal EKG, Arrhythmia, Cardiomyopathy, Hamstring contractures, Knee flexion contracture, Muscu... OMIM:310200
Brugada Syndrome
Cardiac arrest, ST segment elevation, Syncope, Supraventricular tachycardia, Trifascicular block,... ORPHA:130
Mitochondrial Dna Depletion Syndrome 11
Proximal amyotrophy, Arrhythmia, Facial palsy, Dilated cardiomyopathy, Generalized amyotrophy, Ra... OMIM:615084
Phosphoribosylpyrophosphate Synthetase Superactivity
Arrhythmia, Cardiomyopathy, Hypertension ORPHA:3222
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Mitral regurgitation, Left ventricular systolic dysfunction, Left ventricular hypertrophy, Left v... OMIM:619167
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome
Arrhythmia, Sick sinus syndrome, Prolonged PR interval, Patent foramen ovale, Bradycardia, Ventri... ORPHA:542306
Muscular Dystrophy, Progressive Pectorodorsal
Arrhythmia, Muscular dystrophy, Shoulder girdle muscle weakness, Scapular winging OMIM:310095
Hemochromatosis, Type 4
Arrhythmia, Cardiomyopathy OMIM:606069
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3
Cardiac arrest, Ventricular tachycardia, Syncope, Palpitations, Bidirectional ventricular tachyca... OMIM:614021
Noonan Syndrome 5
Pulmonic stenosis, Atrial septal defect, Arrhythmia, Polyhydramnios, Short stature, Hypertrophic ... OMIM:611553
Polymyositis
Vasculitis, Arrhythmia, Abnormal mitral valve morphology, Abnormal muscle fiber morphology, Gastr... ORPHA:732
Familial Progressive Cardiac Conduction Defect
Heart block, Syncope, Arrhythmia, Bundle branch block, Congestive heart failure ORPHA:871
Rheumatic Fever
Myocarditis, Aplasia/Hypoplasia of the abdominal wall musculature, Endocarditis, Arrhythmia, Abno... ORPHA:3099
Hec Syndrome
Polyhydramnios, Arrhythmia, Cardiomyopathy, Endocardial fibroelastosis ORPHA:2119
Hemochromatosis, Type 1
Arrhythmia, Cardiomyopathy, Telangiectasia, Congestive heart failure, Pleural effusion, Cardiomeg... OMIM:235200
Neonatal Lupus Erythematosus
Abnormal electrophysiology of sinoatrial node origin, Heart block, Arrhythmia, Abnormal heart mor... ORPHA:398124
Cardiac Valvular Dysplasia 2
Left ventricular diastolic dysfunction, Systolic heart murmur, Pulmonic stenosis, Dysplastic aort... OMIM:620067
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Exercise-induced rhabdomyolysis, Ventricular tachycardia, Tachycardia, Atrial septal defect, Vent... ORPHA:26793
Infantile Refsum Disease
Arrhythmia, Cardiomyopathy, Short stature, Facial palsy ORPHA:772
Subaortic Stenosis-Short Stature Syndrome
Short stature, Arrhythmia, Subvalvular aortic stenosis, Membranous subvalvular aortic stenosis ORPHA:3191
Refsum Disease, Classic
Arrhythmia, Cardiomyopathy, Congestive heart failure, Cardiomegaly, Limb muscle weakness OMIM:266500
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Myopathy, Arrhythmia, Weakness of facial musculature, Dilated cardiomyopathy, Generalized amyotro... ORPHA:352447
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3
Arrhythmia, Cardiomyopathy, EMG: myopathic abnormalities, Bradycardia, Ragged-red muscle fibers, ... OMIM:609286
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2
Umbilical hernia, Arrhythmia, Hypertension, Intrauterine growth retardation, Neonatal death, Grow... OMIM:614052
Carnitine Palmitoyl Transferase 1A Deficiency
Arrhythmia, Sudden cardiac death, Skeletal muscle atrophy, Hypertrophic cardiomyopathy ORPHA:156
Fabry Disease
Delayed puberty, Left ventricular hypertrophy, Arrhythmia, Hypertension, Transient ischemic attac... OMIM:301500
Atrial Standstill 2
Atrial cardiomyopathy, Palpitations, Atrial standstill, Cardiomyopathy, Absent P wave, Bradycardi... OMIM:615745
Barth Syndrome
Arrhythmia, Skeletal myopathy, Tricuspid regurgitation, Growth delay, Congestive heart failure, D... OMIM:302060
Al Amyloidosis
Macroglossia, Abnormal EKG, Reduced left ventricular ejection fraction, Abnormal cardiac atrium m... ORPHA:85443
Congenital Hypothyroidism
Macroglossia, Hypotension, Umbilical hernia, Arrhythmia, Hypertension, Short stature, Palpebral e... ORPHA:442
American Trypanosomiasis
Myocarditis, Edema, Arrhythmia, Cardiomyopathy, Periorbital edema, Congestive heart failure ORPHA:3386
Congenital Muscular Dystrophy Due To Lmna Mutation
Myopathy, Arrhythmia, Skeletal muscle atrophy, Congestive heart failure, Flexion contracture ORPHA:157973
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive
Arrhythmia, Muscular dystrophy, Generalized amyotrophy, Elbow flexion contracture, Joint contracture OMIM:616516
Eisenmenger Syndrome
Atrial septal defect, Tetralogy of Fallot, Atrioventricular canal defect, Bacterial endocarditis,... ORPHA:97214
Wolff-Parkinson-White Syndrome
Ventricular preexcitation with multiple accessory pathways, Prolonged QRS complex, Wolff-Parkinso... OMIM:194200
Systemic Capillary Leak Syndrome
Myocarditis, Hypotension, Arrhythmia, Pulmonary edema, Pleural effusion, Pericarditis, Pedal edema ORPHA:188
Ataxia With Vitamin E Deficiency
Arrhythmia, Skeletal muscle atrophy, Hypertrophic cardiomyopathy ORPHA:96
Laubry-Pezzi Syndrome
Right ventricular outlet tract obstruction, Subarterial ventricular septal defect, Left ventricul... ORPHA:99094
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form
Rhabdomyolysis, Myopathy, Arrhythmia, Cardiomyopathy, Ventricular hypertrophy ORPHA:228305
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Distal arthrogryposis, Myopathy, Arrhythmia, Skeletal muscle atrophy, Cardiomegaly ORPHA:42
Chromosome 2Q37 Deletion Syndrome
Short stature, Arrhythmia, Subvalvular aortic stenosis OMIM:600430
Wild Type Abeta2M Amyloidosis
Macroglossia, Abnormality of the thenar eminence, Abnormal tendon morphology, Arrhythmia, Gastroi... ORPHA:85446
Idiopathic Pulmonary Arterial Hypertension
Pulmonary arterial hypertension, Syncope, Palpitations, Tricuspid regurgitation, Right ventricula... ORPHA:275766
19P13.12 Microdeletion Syndrome
Mitral regurgitation, Atrial septal defect, Ventricular septal defect, Arrhythmia, Intrauterine g... ORPHA:254346
Lymphedema-Distichiasis Syndrome
Nonimmune hydrops fetalis, Tetralogy of Fallot, Ventricular septal defect, Arrhythmia, Predominan... OMIM:153400
Kearns-Sayre Syndrome
Arrhythmia, Cardiomyopathy, Short stature, Third degree atrioventricular block, Ragged-red muscle... OMIM:530000
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2K
Arrhythmia, Skeletal muscle atrophy, Hand muscle atrophy ORPHA:99944
Mitochondrial Trifunctional Protein Deficiency 1
Rhabdomyolysis, Myopathy, Hydrops fetalis, Arrhythmia, Congestive heart failure, Dilated cardiomy... OMIM:609015
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome
Arrhythmia, Camptodactyly of finger, Short stature ORPHA:2928
Singleton-Merten Syndrome 2
Arrhythmia, Aortic valve stenosis, Short stature, Aortic valve calcification OMIM:616298
Ogden Syndrome
Torticollis, Ventricular septal defect, Arrhythmia, Postnatal growth retardation, Cardiogenic shock ORPHA:276432
Hidrotic Ectodermal Dysplasia, Christianson-Fourie Type
Arrhythmia ORPHA:1808
Mitochondrial Trifunctional Protein Deficiency
Rhabdomyolysis, Mitral regurgitation, Left ventricular hypertrophy, Lower limb muscle weakness, A... ORPHA:746
Primary Triglyceride Deposit Cardiomyovasculopathy
Abnormality of the calf musculature, Coronary artery stenosis, Palpitations, Cardiomyopathy, Low-... ORPHA:565612
Carnitine Palmitoyltransferase I Deficiency
Arrhythmia, Cardiomegaly OMIM:255120
Pagod Syndrome
Situs inversus totalis, Encephalocele, Hypoplastic left heart, Spina bifida, Meningocele, Arrhyth... ORPHA:991
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2
Atrial septal defect, Arrhythmia, Intrauterine growth retardation, Patent foramen ovale, Postnata... OMIM:619184
Symptomatic Form Of Hfe-Related Hemochromatosis
Joint swelling, Decreased muscle mass, Arrhythmia, Cardiomyopathy, Elevated jugular venous pressu... ORPHA:465508
Multiple Acyl-Coa Dehydrogenase Deficiency
Rhabdomyolysis, Arrhythmia, Cardiomyopathy, Skeletal muscle atrophy, Abnormal heart morphology, S... ORPHA:26791
Jervell And Lange-Nielsen Syndrome
Prolonged QTc interval, Torsade de pointes, Syncope, Arrhythmia, Ventricular fibrillation ORPHA:90647
Progressive Familial Heart Block, Type Ib
Left anterior fascicular block, Syncope, Arrhythmia, Atrioventricular block, Shortened PR interva... OMIM:604559
Fabry Disease
Delayed puberty, Mitral regurgitation, Left ventricular hypertrophy, Telangiectasia of the skin, ... ORPHA:324
Glycogen Storage Disease Due To Aldolase A Deficiency
Exercise-induced rhabdomyolysis, Viral infection-induced rhabdomyolysis, Decreased muscle mass, A... ORPHA:57
Mgat2-Cdg
Ventricular septal defect, Reflex asystolic syncope, Arrhythmia, Hydrops fetalis, Abnormal heart ... ORPHA:79329
Ogden Syndrome
Secundum atrial septal defect, Ventricular septal defect, Atrial septal defect, Perimembranous ve... OMIM:300855
Carnitine-Acylcarnitine Translocase Deficiency
Rhabdomyolysis, Ventricular tachycardia, Hypotension, Arrhythmia, Cardiomyopathy ORPHA:159
Autosomal Dominant Progressive External Ophthalmoplegia
Shoulder girdle muscle weakness, Reduced left ventricular ejection fraction, Left ventricular hyp... ORPHA:254892
Ileal Neuroendocrine Tumor
Hypotension, Pulmonic stenosis, Right ventricular failure, Arrhythmia, Palpitations, Cardiogenic ... ORPHA:100078
Jejunal Neuroendocrine Tumor
Hypotension, Pulmonic stenosis, Right ventricular failure, Arrhythmia, Palpitations, Cardiogenic ... ORPHA:100077
Juvenile Dermatomyositis
Vasculitis, Arrhythmia, Cardiomyopathy, Mucosal telangiectasiae, Palpebral edema, Angina pectoris... ORPHA:93672
Car T Cell Therapy-Associated Cytokine Release Syndrome
Hypotension, Reduced left ventricular ejection fraction, Heart block, Arrhythmia, Capillary leak,... ORPHA:542323
Liddle Syndrome
Arrhythmia, Hypertension, Cerebral ischemia ORPHA:526
Legionnaires Disease
Myocarditis, Endocarditis, Hypotension, Arrhythmia, Pericarditis ORPHA:549
Mucopolysaccharidosis Type 2
Macroglossia, Abnormal pulmonary valve morphology, Umbilical hernia, Cardiomyopathy, Abnormal mit... ORPHA:580
Agel Amyloidosis
Edema, Arrhythmia, Cardiomyopathy, Xerostomia, Blepharochalasis, Facial palsy, Orthostatic hypote... ORPHA:85448
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type)
Arrhythmia, Skeletal muscle atrophy, Hypertrophic cardiomyopathy, Type 2 muscle fiber predominanc... OMIM:615471
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Macroglossia, Pulmonary arterial hypertension, Absent muscle fiber merosin, Reduced left ventricu... ORPHA:258
Specc1L-Related Hypertelorism Syndrome
Atrial septal defect, Tetralogy of Fallot, Umbilical hernia, Ventricular septal defect, Arrhythmi... ORPHA:1519
Sudden Infant Death-Dysgenesis Of The Testes Syndrome
Cardiac arrest, Arrhythmia, Growth delay ORPHA:168593
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Delayed puberty, Left ventricular noncompaction cardiomyopathy, Atrial septal defect, Ventricular... OMIM:300967
Thrombotic Thrombocytopenic Purpura
Myocardial infarction, Arrhythmia ORPHA:54057
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Antenatal intracerebral hemorrhage, Arrhythmia, Knee flexion contracture, Dilated cardiomyopathy,... OMIM:608836
Scorpion Envenomation
Myocarditis, Rhabdomyolysis, Edema, Arrhythmia, Hypertension, Prominent U wave, Premature ventric... ORPHA:466677
Mucopolysaccharidosis Type 2, Severe Form
Macroglossia, Abnormal pulmonary valve morphology, Camptodactyly of finger, Umbilical hernia, Car... ORPHA:217085
Phakomatosis Pigmentokeratotica
Raynaud phenomenon, Spina bifida, Arrhythmia, Lymphedema, Rhabdomyosarcoma ORPHA:2874
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 5
Arrhythmia, Mildly reduced left ventricular ejection fraction OMIM:618098
Mucopolysaccharidosis Type 2, Attenuated Form
Macroglossia, Abnormal pulmonary valve morphology, Camptodactyly of finger, Umbilical hernia, Car... ORPHA:217093
Typhoid
Cardiac arrest, Arrhythmia, Epistaxis, Gastrointestinal hemorrhage ORPHA:99745
Familial Multiple Nevi Flammei
Arrhythmia, Intracranial hemorrhage, Edema, Pulmonary embolism ORPHA:624
Microscopic Polyangiitis
Vasculitis, Arrhythmia, Gastrointestinal hemorrhage, Congestive heart failure, Epistaxis, Pericar... ORPHA:727
Giant Cell Arteritis
Vasculitis, Double outlet right ventricle with subpulmonary ventricular septal defect without pul... ORPHA:397
Spontaneous Periodic Hypothermia
Arrhythmia ORPHA:29822
Colchicine Poisoning
Myocarditis, Dehydration, Hypotension, Arrhythmia, Congestive heart failure, Hypovolemia, Cardiog... ORPHA:31824
Linear Skin Defects With Multiple Congenital Anomalies 1
Atrial septal defect, Ventricular septal defect, Arrhythmia, Short stature, Overriding aorta, Jun... OMIM:309801
Acquired Methemoglobinemia
Syncope, Palpitations, Tachycardia, Arrhythmia ORPHA:464453
Duodenal Neuroendocrine Tumor
Hypotension, Pulmonic stenosis, Right ventricular failure, Arrhythmia, Palpitations, Edema, Melen... ORPHA:100076
Heart-Hand Syndrome Type 2
Arrhythmia ORPHA:1350
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Heart block, Arrhythmia, Cardiomyopathy, Abnormal myocardium morphology, Cardiomegaly ORPHA:228308
Spinocerebellar Ataxia, Autosomal Recessive 23
Arrhythmia OMIM:616949
Kleefstra Syndrome
Macroglossia, Tetralogy of Fallot, Ventricular septal defect, Arrhythmia, Short stature, Bicuspid... ORPHA:261494
Lymphedema-Distichiasis Syndrome
Arrhythmia, Predominantly lower limb lymphedema, Patent ductus arteriosus ORPHA:33001
Spinocerebellar Ataxia, Autosomal Recessive 33
Arrhythmia OMIM:620208
Oculodentodigital Dysplasia
Umbilical hernia, Camptodactyly of finger, Arrhythmia, Ventricular septal defect ORPHA:2710
Ulnar-Mammary Syndrome
Delayed puberty, Camptodactyly of finger, Ventricular septal defect, Arrhythmia, Short stature, A... ORPHA:3138
Hyperkalemic Periodic Paralysis
Myopathy, Arrhythmia, Skeletal muscle atrophy, Skeletal muscle hypertrophy, Congestive heart fail... ORPHA:682
Dominant Beta-Thalassemia
Delayed puberty, High-output congestive heart failure, Arrhythmia, Dilated cardiomyopathy, Growth... ORPHA:231226
Lyme Disease
Arrhythmia, Atrioventricular block, Joint swelling ORPHA:91546
Holoprosencephaly
Encephalocele, Spinal dysraphism, Abnormal pulmonary valve morphology, Ventricular septal defect,... ORPHA:2162
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome
Arrhythmia, Camptodactyly of finger, Short stature ORPHA:3201
Familial Isolated Hypoparathyroidism
Arrhythmia, Short stature, Myopathy ORPHA:2238
Von Hippel-Lindau Disease
Myocarditis, Distal lower limb muscle weakness, Arrhythmia, Cardiomyopathy, Hypertension, Palpita... ORPHA:892
Generalized Pseudohypoaldosteronism Type 1
Hypovolemic shock, Arrhythmia, Proportionate short stature, Dehydration ORPHA:171876
Carnitine Palmitoyltransferase Ii Deficiency
Rhabdomyolysis, Arrhythmia, Cardiomyopathy, Myopathy ORPHA:157
Spondylometaphyseal Dysplasia, Sedaghatian Type
Myocarditis, Arrhythmia, Atrioventricular block, Rhizomelic arm shortening, Disproportionate shor... ORPHA:93317
Alternating Hemiplegia Of Childhood
Abnormal T-wave, Dehydration, Arrhythmia, Cardiomyopathy, Cardiac conduction abnormality, Facial ... ORPHA:2131
Beta-Thalassemia Major
Delayed puberty, High-output congestive heart failure, Arrhythmia, Dilated cardiomyopathy, Growth... ORPHA:231214
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 4
Arrhythmia, Ventricular bigeminy, Facial palsy, Left bundle branch block, Limb muscle weakness OMIM:610131
16P11.2P12.2 Microdeletion Syndrome
Camptodactyly of finger, Arrhythmia, Intrauterine growth retardation, Short stature, Tricuspid re... ORPHA:261211
Dermatomyositis
Myocarditis, Pulmonary arterial hypertension, Vasculitis, Edema, Sinus tachycardia, Arrhythmia, I... ORPHA:221
Kawasaki Disease
Myocarditis, Vasculitis, Edema, Double outlet right ventricle with subpulmonary ventricular septa... ORPHA:2331
Genetic Recurrent Myoglobinuria
Viral infection-induced rhabdomyolysis, Lower limb muscle weakness, Arrhythmia, Abnormality of ja... ORPHA:99845
Noonan Syndrome
Abnormal pulmonary valve morphology, Aplasia/Hypoplasia of the abdominal wall musculature, Arrhyt... ORPHA:648
Schwartz-Jampel Syndrome
Pulmonary arterial hypertension, Myopathy, Flexion contracture of toe, Umbilical hernia, Arrhythm... ORPHA:800
Microphthalmia With Linear Skin Defects Syndrome
Mitral regurgitation, Severe short stature, Arrhythmia, Tricuspid valve prolapse, Tricuspid regur... ORPHA:2556
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Arrhythmia, Cerebral ischemia, Telangiectasia of the skin ORPHA:60040
Familial Mediterranean Fever
Vasculitis, Arrhythmia, Myocardial infarction, Pericarditis, Pedal edema, Ascites ORPHA:342
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome
Abnormal EKG, Arrhythmia, EMG: myopathic abnormalities, Prolonged QT interval, Acute rhabdomyolysis ORPHA:480864
Autoimmune Hemolytic Anemia
Arrhythmia, Congestive heart failure ORPHA:98375
Hirschsprung Disease-Ganglioneuroblastoma Syndrome
Arrhythmia, Prolonged QT interval ORPHA:2151
Costello Syndrome
Macroglossia, Pulmonic stenosis, Atrial septal defect, Ventricular septal defect, Arrhythmia, Pol... OMIM:218040
Neuroleptic Malignant Syndrome
Rhabdomyolysis, Dehydration, Hypotension, Arrhythmia, Hypertension, Pulmonary embolism, Bradycard... ORPHA:94093
Mastocytosis
Hypotension, Angioedema, Arrhythmia, Gastrointestinal hemorrhage, Telangiectasia of the skin ORPHA:98292
Granulomatosis With Polyangiitis
Vasculitis, Recurrent intrapulmonary hemorrhage, Arrhythmia, Periorbital edema, Hypertension, Ang... ORPHA:900
Hennekam-Beemer Syndrome
Camptodactyly of finger, Hypotension, Arrhythmia, Short stature, Telangiectasia of the skin ORPHA:2135
Localized Scleroderma
Raynaud phenomenon, Vasculitis, Myopathy, Arrhythmia, Skeletal muscle atrophy, Flexion contracture ORPHA:90289
Simpson-Golabi-Behmel Syndrome, Type 1
Macroglossia, Diastasis recti, Pulmonic stenosis, Ventricular septal defect, Atrial septal defect... OMIM:312870
Oculodentodigital Dysplasia
Joint contracture of the 5th finger, Arrhythmia, Atrial septal defect OMIM:164200
Tetramelic Deficiencies, Ectodermal Dysplasia, Deformed Ears, And Other Abnormalities
Arrhythmia OMIM:273400
Botulism
Arrhythmia, Xerostomia ORPHA:1267
Foodborne Botulism
Arrhythmia, Xerostomia ORPHA:228371
Amoebiasis Due To Free-Living Amoebae
Arrhythmia, Myocardial necrosis, Cerebral edema, Facial palsy ORPHA:68
Carney Triad
Arrhythmia, Hypertension, Leiomyosarcoma, Gastrointestinal hemorrhage, Tachycardia, Ascites ORPHA:139411
Deafness-Enamel Hypoplasia-Nail Defects Syndrome
Arrhythmia, Camptodactyly of finger, Short stature ORPHA:3220
Leber Optic Atrophy
Arrhythmia, Myopathy OMIM:535000
Spondylometaphyseal Dysplasia, Sedaghatian Type
Myocarditis, Atrial septal defect, Arrhythmia, Rhizomelia, Disproportionate short stature OMIM:250220
Proteasome-Associated Autoinflammatory Syndrome 1
Macroglossia, Camptodactyly of finger, Flexion contracture of toe, Arrhythmia, Skeletal muscle at... OMIM:256040
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia
Arrhythmia, Short stature OMIM:171480
Leptospirosis
Rhabdomyolysis, Pleural effusion, Hypotension, Arrhythmia, First degree atrioventricular block, S... ORPHA:509
African Trypanosomiasis
Myocarditis, Abnormal EKG, Arrhythmia, Second degree atrioventricular block, Myelopathy, Congesti... ORPHA:3385
Phocomelia-Ectrodactyly-Deafness-Sinus Arrhythmia Syndrome
Arrhythmia ORPHA:2878
Wiskott-Aldrich Syndrome
Vasculitis, Recurrent intrapulmonary hemorrhage, Hematochezia, Arrhythmia, Intracranial hemorrhag... ORPHA:906
Ivic Syndrome
Arrhythmia, Severe short stature ORPHA:2307
Cockayne Syndrome A
Severe postnatal growth retardation, Arrhythmia, Hypertension, Intrauterine growth retardation, S... OMIM:216400
Plague
Hypotension, Endocarditis, Edema, Arrhythmia, Hematemesis, Tachycardia ORPHA:707
Cockayne Syndrome B
Severe short stature, Arrhythmia, Hypertension, Intrauterine growth retardation, Postnatal growth... OMIM:133540
Stickler Syndrome
Macroglossia, Arrhythmia, Skeletal muscle atrophy, Short stature, Mitral valve prolapse ORPHA:828
Ulnar-Mammary Syndrome
Arrhythmia, Delayed puberty, Elbow flexion contracture, Ventricular septal defect OMIM:181450
Autosomal Dominant Hypocalcemia
Arrhythmia, Congestive heart failure, Hypotension ORPHA:428
Spondyloarthropathy, Susceptibility To, 1
Arrhythmia, Aortic regurgitation OMIM:106300
Sarcoidosis
Ventricular tachycardia, Joint swelling, Heart block, Arrhythmia, Abnormal cardiac ventricular fu... ORPHA:797
Hypermobile Ehlers-Danlos Syndrome
Umbilical hernia, Aplasia/Hypoplasia of the abdominal wall musculature, Tendon rupture, Arrhythmia ORPHA:285
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease
Arrhythmia, Arthrogryposis multiplex congenita 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

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