Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
hypoxia inducible factor 3, alpha subunit
Synonyms:
Nepas,  bHLHe17,  MOP7

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 Hif3a 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 Hif3a by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Pulmonary Atresia With Intact Ventricular Septum
Pulmonary artery atresia, Hypoplastic right heart OMIM:265150
Heart Defects-Limb Shortening Syndrome
Ventricular septal defect, Abnormal mitral valve morphology, Abnormal tricuspid valve morphology,... ORPHA:1354
Congenital unilateral pulmonary hypoplasia
Congenital diaphragmatic hernia, Abnormality of the pulmonary artery, Aplasia/Hypoplasia of the l... ORPHA:2258
Pulmonary Atresia With Ventricular Septal Defect
Ventricular septal defect, Pulmonary artery atresia OMIM:178370
Pulmonary Atresia-Intact Ventricular Septum Syndrome
Abnormal tricuspid valve morphology, Pulmonary artery atresia ORPHA:1208
Atrioventricular Septal Defect, Susceptibility To, 2
Dextrocardia, Atrioventricular canal defect, Pulmonary artery atresia, Right aortic arch with mir... OMIM:606217
Pulmonary Hypertension, Primary, 1
Right ventricular failure, Pulmonary artery vasoconstriction, Telangiectasia, Hypertension, Right... OMIM:178600
Tricuspid Atresia
Ventricular septal defect, Tricuspid atresia, Hypoplasia of right ventricle, Coarctation of aorta... ORPHA:1209
Cardiomyopathy, Dilated, 1S
Dilated cardiomyopathy, Bicuspid aortic valve, Ventricular arrhythmia, Coarctation of aorta, Pulm... OMIM:613426
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Dilated cardiomyopathy, Endocardial fibrosis, Ventricular arrhythmia, Left ventricular hypertroph... OMIM:601493
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects
Ventricular septal defect, Atrial fibrillation, Subvalvular aortic stenosis, Left ventricular hyp... OMIM:108900
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Abnormal aortic morphology, Ventricular septal defect, Congenital diaphragmatic hernia, Abnormali... ORPHA:1166
Cutis Laxa, Neonatal, With Marfanoid Phenotype
Abnormal heart morphology, Emphysema, Congenital diaphragmatic hernia OMIM:614100
Cutis Laxa-Marfanoid Syndrome
Congenital diaphragmatic hernia, Abnormal heart valve morphology, Emphysema, Flexion contracture ORPHA:171719
Cardiomyopathy, Dilated, 1R
Dilated cardiomyopathy, Ventricular arrhythmia, Restrictive cardiomyopathy, Left ventricular hype... OMIM:613424
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5
Right ventricular dilatation, Skeletal muscle atrophy, Pneumonia, Right ventricular hypertrophy, ... OMIM:253700
Congenital Heart Defects, Multiple Types, 6
Complete atrioventricular canal defect, Ventricular septal defect, Double outlet right ventricle,... OMIM:613854
Left Ventricular Noncompaction 8
Dilated cardiomyopathy, Abnormal left ventricular function, Mitral regurgitation, Congestive hear... OMIM:615373
Left Ventricular Noncompaction 7
Left ventricular noncompaction cardiomyopathy, Left ventricular noncompaction OMIM:615092
Supravalvular Aortic Stenosis
Pulmonary artery stenosis, Supravalvular aortic stenosis, Peripheral arterial stenosis, Pulmonic ... OMIM:185500
Emphysema, Hereditary Pulmonary
Emphysema, Chronic bronchitis OMIM:130700
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Dilated cardiomyopathy, Endocardial fibrosis, Atrial fibrillation, Atrioventricular block, Endoca... OMIM:612158
Fadd-Related Immunodeficiency
Ventricular septal defect, Pulmonary artery atresia ORPHA:306550
Klippel-Trénaunay Syndrome
Abnormal tricuspid valve morphology, Gastrointestinal hemorrhage, Atrial septal defect, Abnormali... ORPHA:90308
Heterotaxy, Visceral, 8, Autosomal
Ventricular septal defect, Double outlet right ventricle, Atrial situs ambiguous, Hypoplastic lef... OMIM:617205
Atrial Septal Defect, Sinus Venosus Type
Left-to-right shunt, Right ventricular dilatation, Atrial fibrillation, Systolic heart murmur, Ca... ORPHA:99105
Left Ventricular Noncompaction 1
Left ventricular noncompaction cardiomyopathy, Ventricular septal defect, Atrial fibrillation, Mi... OMIM:604169
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction
Ventricular septal defect, Pulmonary artery atresia OMIM:613759
Ventricular Septal Defect 3
Pulmonary artery stenosis, Ventricular septal defect, Atrial septal defect OMIM:614432
Familial Isolated Restrictive Cardiomyopathy
Hypertrophic cardiomyopathy, Left atrial enlargement, Syncope, Atrial fibrillation, Mitral regurg... ORPHA:75249
Congenital Heart Defects, Multiple Types, 7
Pulmonary artery atresia, Pulmonic stenosis, Right aortic arch, Aortopulmonary collateral arterie... OMIM:618780
Left Ventricular Noncompaction 10
Dilated cardiomyopathy, Left ventricular noncompaction OMIM:615396
Congenital Rubella Syndrome
Ventricular septal defect, Atrial septal defect, Abnormality of the pulmonary artery ORPHA:290
Cardiomyopathy, Dilated, 1D
Dilated cardiomyopathy, Atrial fibrillation, Left ventricular hypertrophy, Congestive heart failu... OMIM:601494
Dextrocardia
Dextrocardia, Abnormal pulmonary situs morphology, Abnormal lung lobation, Situs inversus totalis... ORPHA:1666
Deafness, Congenital Heart Defects, And Posterior Embryotoxon
Ventricular septal defect, Tetralogy of Fallot, Peripheral pulmonary artery stenosis OMIM:617992
Familial Dilated Cardiomyopathy
Right ventricular dilatation, Atrial fibrillation, Mitral regurgitation, Ventricular arrhythmia, ... ORPHA:217607
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Left-to-right shunt, Ventricular septal defect, Abnormal aortic arch morphology, Abnormal descend... ORPHA:99050
Scimitar Syndrome
Left-to-right shunt, Truncus arteriosus, Mitral atresia, Single ventricle, Abnormal lung morpholo... ORPHA:185
Aniridia-Cerebellar Ataxia-Intellectual Disability Syndrome
Abnormality of the pulmonary artery ORPHA:1065
Bronchopulmonary Dysplasia
Right ventricular failure, Right ventricular hypertrophy, Pulmonary sequestration, Abnormal lung ... ORPHA:70589
Right Atrial Isomerism
Dextrocardia, Complete atrioventricular canal defect, Ventricular septal defect, Right atrial iso... OMIM:208530
Lmna-Related Cardiocutaneous Progeria Syndrome
Hypertension, Intracranial hemorrhage, Mitral valve calcification, Mitral regurgitation, Ventricu... ORPHA:363618
Atrial Septal Defect, Ostium Primum Type
Left atrial enlargement, Syncope, Third heart sound, Abnormally loud pulmonic component of the se... ORPHA:99106
Cardiomyopathy, Dilated, 2D
Dilated cardiomyopathy, Reduced ejection fraction, Mitral regurgitation, Pulmonary arterial hyper... OMIM:619371
Atrial Septal Defect, Coronary Sinus Type
Right ventricular failure, Syncope, Left-to-right shunt, Right ventricular dilatation, Pneumonia,... ORPHA:99104
Waardenburg Syndrome Type 2
Abnormality of the pulmonary artery ORPHA:895
Diabetic Embryopathy
Ventricular septal defect, Aplasia/Hypoplasia of the abdominal wall musculature, Abnormal aortic ... ORPHA:1926
Atrial Standstill
Syncope, Ventricular escape rhythm, Cardiac conduction abnormality, Abnormal P wave, Reduced ejec... ORPHA:1344
Coronary Arterial Fistula
Bicuspid aortic valve, Bacterial endocarditis, Right ventricular dilatation, Syncope, Abnormal le... ORPHA:2041
Cardiac Diverticulum
Bicuspid aortic valve, Syncope, Tricuspid stenosis, Mitral stenosis, Bicuspid pulmonary valve, Di... ORPHA:1686
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14
Premature ventricular contraction, Right ventricular dilatation, Ventricular tachycardia, Palpita... OMIM:618920
X-Linked Mandibulofacial Dysostosis
Abnormality of the pulmonary artery, Pulmonic stenosis, Abnormal mitral valve morphology ORPHA:1131
Idiopathic/Heritable Pulmonary Arterial Hypertension
Syncope, Right ventricular dilatation, Palpitations, Elevated jugular venous pressure, Pulmonary ... ORPHA:422
Heterotaxy, Visceral, 7, Autosomal
Dextrocardia, Interrupted aortic arch, Hypoplasia of right ventricle, Abnormal aortic valve morph... OMIM:616749
Noonan Syndrome With Multiple Lentigines
Hypertrophic cardiomyopathy, Aplasia/Hypoplasia of the abdominal wall musculature, Abnormal endoc... ORPHA:500
Atrial Septal Defect, Ostium Secundum Type
Right ventricular failure, Syncope, Left-to-right shunt, ST segment depression, Transient ischemi... ORPHA:99103
Cirrhotic Cardiomyopathy
Left atrial enlargement, Global systolic dysfunction, Reduced ejection fraction, Ventricular arrh... ORPHA:57777
Familial Idiopathic Dilatation Of The Right Atrium
Abnormal cardiac ventricular function, Syncope, Paroxysmal atrial fibrillation, Atrial septal dil... ORPHA:1677
Idiopathic Bronchiectasis
Bronchiectasis, Recurrent lower respiratory tract infections, Myocardial infarction, Respiratory ... ORPHA:60033
Congenital Tricuspid Valve Dysplasia
Pericardial effusion, Systolic heart murmur, Right ventricular hypertrophy, Cardiomegaly, Tricusp... ORPHA:555874
Hadziselimovic Syndrome
Ventricular septal defect, Ventricular hypertrophy, Atrial septal defect, Tetralogy of Fallot, Pu... OMIM:612946
Congenital Lobar Emphysema
Emphysema ORPHA:1928
Congenital Gerbode Defect
Right ventricular failure, Constrictive pericarditis, Ventricular septal defect, Bacterial endoca... ORPHA:99095
Congenitally Corrected Transposition Of The Great Arteries
Third degree atrioventricular block, Cardiac conduction abnormality, Single ventricle, Double out... ORPHA:216694
Duodenal Atresia
Abnormality of the pulmonary artery ORPHA:1203
Sarcoidosis, Susceptibility To, 2
Bronchiectasis, Pneumothorax, Pulmonary arterial hypertension, Facial palsy, Elevated bronchoalve... OMIM:612387
Isolated Right Ventricular Hypoplasia
Right ventricular failure, Systolic heart murmur, Right bundle branch block, Cardiomegaly, Tricus... ORPHA:439
Cutis Laxa, Autosomal Dominant 1
Aortic regurgitation, Emphysema, Mitral regurgitation OMIM:123700
Right Pulmonary Artery, Anomalous Origin Of, Familial
Ventricular septal defect, Coarctation of aorta, Patent foramen ovale, Anomalous origin of right ... OMIM:610338
Atrial Septal Defect 8
Atrial septal defect, Anomalous pulmonary venous return OMIM:614433
Peripartum Cardiomyopathy
Dilated cardiomyopathy, Myocarditis, Left atrial enlargement, Right ventricular failure, Abnormal... ORPHA:563
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy
Dilated cardiomyopathy, Left atrial enlargement, Hypertrophic cardiomyopathy, Left ventricular no... OMIM:619424
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency
Interstitial pneumonitis, Right ventricular hypertrophy, Spontaneous neonatal pneumothorax, Pulmo... ORPHA:217563
Alpha-1-Antitrypsin Deficiency
Chronic bronchitis, Panacinar emphysema OMIM:613490
14Q24.1Q24.3 Microdeletion Syndrome
Ventricular septal defect, Truncus arteriosus, Abnormal heart morphology, Atrial septal defect, P... ORPHA:401935
Truncus Arteriosus
Truncus arteriosus, Pulmonary edema, Pulmonary artery stenosis, Interrupted aortic arch, Ventricu... ORPHA:3384
Pagod Syndrome
Abnormal aortic morphology, Congenital diaphragmatic hernia, Situs inversus totalis, Pulmonary ar... ORPHA:991
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Ventricular septal defect, Double outlet right ventricle, Atrial septal defect, Tetralogy of Fall... OMIM:618316
Combined Oxidative Phosphorylation Deficiency 31
Hypertrophic cardiomyopathy, Left ventricular noncompaction OMIM:617228
Sick Sinus Syndrome 2
Sinus bradycardia, Mitral valve prolapse, Atrial fibrillation, Aortic regurgitation, Left ventric... OMIM:163800
Birt-Hogg-Dubé Syndrome
Pneumothorax, Pulmonary sequestration, Emphysema ORPHA:122
Microphthalmia, Syndromic 9
Ventricular septal defect, Hypoplastic left atrium, Truncus arteriosus, Congenital diaphragmatic ... OMIM:601186
Allergic Bronchopulmonary Aspergillosis
Emphysema, Pulmonary arterial hypertension, Bronchiectasis ORPHA:1164
Double Outlet Right Ventricle
Ventricular septal defect, Truncus arteriosus, Double outlet right ventricle, Coarctation of aort... ORPHA:3426
Primary Pulmonary Hypoplasia
Dextrocardia, Abnormal hemidiaphragm morphology, Pneumothorax, Recurrent respiratory infections, ... ORPHA:2257
Berry Aneurysm, Cirrhosis, Pulmonary Emphysema, And Cerebral Calcification
Portal hypertension, Emphysema OMIM:210050
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Dilated cardiomyopathy, Mitral regurgitation, Left ventricular systolic dysfunction, Tricuspid re... OMIM:619167
Bare Lymphocyte Syndrome, Type I
Bronchiolitis, Emphysema, Recurrent bronchitis, Bronchiectasis OMIM:604571
Alpha-1-Antitrypsin Deficiency
Emphysema ORPHA:60
Tempi Syndrome
Abnormality of the pulmonary vasculature, Telangiectasia, Intracranial hemorrhage, Transudative p... ORPHA:284227
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Abnormal mitochondria in muscle tissue, Ragg... OMIM:252011
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Honeycomb lung, Chronic bronchitis, Bronchiectasis, Hypersensitivity pneumonitis, Respiratory tra... ORPHA:79127
Epidermodysplasia Verruciformis, Susceptibility To, 4
Emphysema OMIM:618307
Kallmann Syndrome-Heart Disease Syndrome
Dilated cardiomyopathy, Pulmonary insufficiency, Mitral regurgitation, Double outlet right ventri... ORPHA:2326
Fanconi Renotubular Syndrome 5
Hypertension, Emphysema, Pulmonary fibrosis, Lung adenocarcinoma OMIM:618913
Congenital Tracheomalacia
Ventricular septal defect, Pulmonary hypoplasia, Pneumonia, Bronchiectasis, Abnormal heart morpho... ORPHA:95430
Naxos Disease
Dilated cardiomyopathy, Syncope, Paroxysmal ventricular tachycardia, Premature ventricular contra... OMIM:601214
Scleromyxedema
Myopathy, Abnormal skeletal muscle morphology, Raynaud phenomenon, Transient ischemic attack, Abn... ORPHA:167635
Mitochondrial Complex Iv Deficiency, Nuclear Type 13
Hypertrophic cardiomyopathy, Reduced ejection fraction, Aortic regurgitation, Tricuspid regurgita... OMIM:616501
Phaver Syndrome
Ventricular septal defect, Coarctation of aorta, Camptodactyly of finger, Pulmonary artery atresi... ORPHA:2876
Cutis Laxa, Autosomal Recessive, Type Ia
Ascending tubular aorta aneurysm, Supravalvular aortic stenosis, Congenital diaphragmatic hernia,... OMIM:219100
Heterotaxy, Visceral, 5, Autosomal
Dextrocardia, Ventricular septal defect, Ascending tubular aorta aneurysm, Right atrial isomerism... OMIM:270100
Seckel Syndrome 9
Ventricular septal defect, Congenital diaphragmatic hernia, Pulmonary artery hypoplasia, Atrial s... OMIM:616777
Adams-Oliver Syndrome 5
Right ventricular hypertrophy, Pulmonary arterial hypertension, Pulmonic stenosis, Right atrial e... OMIM:616028
Homozygous Familial Hypercholesterolemia
Cerebral artery atherosclerosis, Hypertension, Myocardial steatosis, Sudden cardiac death, Abnorm... ORPHA:391665
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Bicuspid aortic valve, Dysplastic tricuspid valve, Misalignment of the pulmonary veins, Diastasis... OMIM:265380
Hypocomplementemic Urticarial Vasculitis
Pericardial effusion, Abnormal heart valve morphology, Small vessel vasculitis, Emphysema, Pleura... ORPHA:36412
Loeys-Dietz Syndrome 4
Bicuspid aortic valve, Aortic dissection, Ascending tubular aorta aneurysm, Mitral valve prolapse... OMIM:614816
Surfactant Metabolism Dysfunction, Pulmonary, 3
Crazy paving pattern, Honeycomb lung, Absent bronchoalveolar surfactant-protein C, Desquamative i... OMIM:610921
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs
Ventricular septal defect, Congenital diaphragmatic hernia, Pulmonary artery stenosis, Bilateral ... OMIM:611812
Aminopterin/Methotrexate Embryofetopathy
Situs inversus totalis, Ventricular septal defect, Tetralogy of Fallot, Pulmonary artery atresia ORPHA:1908
Autosomal Recessive Cutis Laxa Type 1
Abnormal cardiac ventricular function, Peripheral pulmonary artery stenosis, Supravalvular aortic... ORPHA:90349
Immunodeficiency 89 And Autoimmunity
Pleural thickening, Pulmonary bulla, Recurrent lower respiratory tract infections, Bronchiectasis OMIM:619632
Hypophosphatasia
Emphysema ORPHA:436
T-Cell Immunodeficiency With Thymic Aplasia
Recurrent bronchopulmonary infections, Emphysema, Recurrent pneumonia, Bronchiectasis OMIM:242700
Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia Syndrome
Myopathy, Right ventricular dilatation, Limb-girdle muscular dystrophy ORPHA:369847
Congenital Total Pulmonary Venous Return Anomaly
Right ventricular failure, Mitral atresia, Single ventricle, Low-output congestive heart failure,... ORPHA:99125
Adams-Oliver Syndrome
Pulmonary arterial hypertension, Gastrointestinal hemorrhage, Tetralogy of Fallot, Abnormal pulmo... ORPHA:974
Velocardiofacial Syndrome
Interrupted aortic arch, Ventricular septal defect, Unilateral primary pulmonary dysgenesis, Righ... OMIM:192430
Keutel Syndrome
Hypertension, Ventricular septal defect, Peripheral pulmonary artery stenosis, Recurrent bronchit... OMIM:245150
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Ventricular septal defect, Double outlet right ventricle, Arthrogryposis multiplex congenita, Pul... OMIM:301056
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Restrictive cardiomyopathy, Right atrial enlargement, Pericardial effusion, Endocardial fibroelas... OMIM:619313
Atypical Werner Syndrome
Hypertension, Neoplasm of the lung, Skeletal muscle atrophy, Mitral valve prolapse, Aortic valve ... ORPHA:79474
Neonatal Marfan Syndrome
Abnormal cardiac ventricle morphology, Ascending tubular aorta aneurysm, Abnormal echocardiogram,... ORPHA:284979
Congenital Tracheal Stenosis
Ventricular septal defect, Abnormal lung lobation, Preductal coarctation of the aorta, Hypoplasti... ORPHA:141127
Lymphedema-Distichiasis Syndrome
Abnormality of the pulmonary vasculature, Arrhythmia ORPHA:33001
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome
Telangiectasia, Aortic dissection, Mitral valve prolapse, Mitral regurgitation, Epistaxis, Pulmon... OMIM:175050
Cutis Laxa, Autosomal Recessive, Type Ic
Pulmonary artery stenosis, Emphysema, Patent foramen ovale, Pulmonary hypoplasia OMIM:613177
Chronic Thromboembolic Pulmonary Hypertension
Right ventricular failure, Syncope, Right ventricular dilatation, Abnormal T-wave, Palpitations, ... ORPHA:70591
Focal Dermal Hypoplasia
Ventricular septal defect, Aplasia/Hypoplasia of the lungs, Abnormality of the pulmonary vasculat... ORPHA:2092
Chromosome 6Q24-Q25 Deletion Syndrome
Right ventricular dilatation, Mitral valve prolapse, Dysplastic tricuspid valve, Tricuspid regurg... OMIM:612863
Fabry Disease
Hypertrophic cardiomyopathy, Hypertension, Abnormal endocardium morphology, Mitral regurgitation,... ORPHA:324
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly
Ventricular septal defect, Coarctation of aorta, Tetralogy of Fallot, Absent pulmonary artery OMIM:600460
Tropical Endomyocardial Fibrosis
Left atrial enlargement, Abnormal EKG, Abnormal P wave, Reduced ejection fraction, Mitral regurgi... ORPHA:75565
Mosaic Trisomy 1
Ventricular septal defect, Congenital diaphragmatic hernia, Coarctation of aorta, Camptodactyly o... ORPHA:1692
Cutis Laxa, Autosomal Recessive, Type Ib
Pulmonary insufficiency, Pulmonary artery aneurysm, Pulmonary artery dilatation, Congenital diaph... OMIM:614437
Heart Block, Congenital
Myocardial calcification, Mitral regurgitation, Atrioventricular block, Cardiomyopathy, Absent at... OMIM:234700
Ellis Van Creveld Syndrome
Dextrocardia, Ventricular septal defect, Aplasia/Hypoplasia of the lungs, Atrioventricular canal ... ORPHA:289
Hughes-Stovin Syndrome
Pulmonary artery aneurysm, Pulmonary arterial hypertension, Vasculitis, Pulmonary embolism, Arter... ORPHA:228116
Marfan Syndrome
Decreased muscle mass, Bicuspid aortic valve, Aortic dissection, Mitral valve prolapse, Pulmonary... OMIM:154700
Stuve-Wiedemann Syndrome 1
Flexion contracture of toe, Pulmonary arterial medial hypertrophy, Pulmonary arterial hypertensio... OMIM:601559
Peters Plus Syndrome
Bicuspid pulmonary valve, Pulmonic stenosis, Abnormal pulmonary vein morphology, Hypoplastic left... ORPHA:709
Common Variable Immunodeficiency
Pneumonia, Recurrent bronchitis, Bronchiectasis, Vasculitis, Recurrent respiratory infections, Em... ORPHA:1572
Alg9-Cdg
Ventricular septal defect, Right ventricular dilatation, Pericardial effusion, Abnormal lung loba... ORPHA:79328
Lymphangioleiomyomatosis
Chylopericardium, Pneumothorax, Pulmonary lymphangiomyomatosis, Gastrointestinal hemorrhage, Recu... ORPHA:538
Heart Defects, Congenital, And Other Congenital Anomalies
Interrupted aortic arch, Ventricular septal defect, Truncus arteriosus, Congenital diaphragmatic ... OMIM:600001
Meester-Loeys Syndrome
Pulmonary artery aneurysm, Aortic dissection, Mitral regurgitation, Flexion contracture, Camptoda... OMIM:300989
Marfan Syndrome
Ascending tubular aorta aneurysm, Pulmonary artery dilatation, Mitral valve prolapse, Skeletal mu... ORPHA:558
Robinow Syndrome, Autosomal Dominant 3
Ventricular septal defect, Tricuspid regurgitation, Hypoplastic right heart, Camptodactyly, Paten... OMIM:616894
Netherton Syndrome
Recurrent respiratory infections, Emphysema ORPHA:634
Nestor-Guillermo Progeria Syndrome
Left atrial enlargement, Hypertension, Mitral regurgitation, Pulmonary arterial hypertension, Rig... OMIM:614008
Autosomal Dominant Cutis Laxa
Peripheral pulmonary artery stenosis, Bronchiectasis, Mitral regurgitation, Aortic regurgitation,... ORPHA:90348
Ehlers-Danlos Syndrome, Vascular Type
Mitral valve prolapse, Pneumothorax, Pulmonary bleb, Arterial rupture, Pulmonary bulla, Recurrent... OMIM:130050
Meier-Gorlin Syndrome 4
Emphysema OMIM:613804
Sarcoidosis, Susceptibility To, 1
Pericardial effusion, Bronchiectasis, Pulmonary arterial hypertension, Elevated bronchoalveolar l... OMIM:181000
Nocardiosis
Pericarditis, Pneumonia, Endocarditis, Pneumothorax, Pleuritis, Abnormal heart valve morphology, ... ORPHA:31204
Pauci-Immune Glomerulonephritis
Abnormality of the pulmonary vasculature, Small vessel vasculitis, Arteritis, Pulmonary hemorrhage ORPHA:93126
Cystic Fibrosis With Helicobacter Pylori Gastritis, Megaloblastic Anemia, And Mental Retardation
Cor pulmonale, Recurrent bronchopulmonary infections, Emphysema, Recurrent pneumonia OMIM:219721
Telangiectasia, Hereditary Hemorrhagic, Type 4
Cerebral hemorrhage, Ischemic stroke, Conjunctival telangiectasia, Spontaneous, recurrent epistax... OMIM:610655
Unilateral Polymicrogyria
Abnormal heart morphology, Epistaxis, Pulmonary arteriovenous malformation ORPHA:268943
Loeys-Dietz Syndrome 1
Bicuspid aortic valve, Pulmonary artery aneurysm, Descending thoracic aorta aneurysm, Mitral valv... OMIM:609192
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Bicuspid aortic valve, Abnormal heart morphology, Coarctation of aorta, Pulmonic stenosis, Abnorm... ORPHA:261537
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Bicuspid aortic valve, Ventricular septal defect, Hyphema, Abnormal heart morphology, Coarctation... ORPHA:261552
Tetraamelia Syndrome 1
Pulmonary hypoplasia, Peripheral pulmonary vessel aplasia, Abnormality of the diaphragm OMIM:273395
Loeys-Dietz Syndrome 2
Bicuspid aortic valve, Pulmonary artery aneurysm, Descending thoracic aorta aneurysm, Mitral valv... OMIM:610168
Telangiectasia, Hereditary Hemorrhagic, Type 2
Cerebral hemorrhage, Hypertension, Fingerpad telangiectases, Lip telangiectasia, Ischemic stroke,... OMIM:600376
Biliary, Renal, Neurologic, And Skeletal Syndrome
Left-to-right shunt, Common atrium, Recurrent respiratory infections, Portal hypertension, Dextro... OMIM:619534
Viss Syndrome
Pulmonary artery aneurysm, Ventricular septal defect, Right ventricular dilatation, Mitral valve ... OMIM:619472
Hyperlysinemia
Pulmonary artery hypoplasia, Recurrent pneumonia ORPHA:2203
Telangiectasia, Hereditary Hemorrhagic, Type 1
Spontaneous, recurrent epistaxis, Pulmonary arteriovenous malformation, Melena, Transient ischemi... OMIM:187300
Meier-Gorlin Syndrome 6
Recurrent respiratory infections, Emphysema OMIM:616835
Sarcoidosis
Abnormal cardiac ventricular function, Portal hypertension, Bronchiectasis, Ventricular tachycard... ORPHA:797
Visceral Steatosis, Congenital
Myocardial steatosis OMIM:228100
Charge Syndrome
Ventricular septal defect, Dysplastic tricuspid valve, Double outlet right ventricle, Facial pals... OMIM:214800
Non-Specific Syndromic Intellectual Disability
Aortic root aneurysm, Pulmonary artery dilatation ORPHA:528084
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Abnormal heart morphology, Unilateral lung agenesis, Atrial septal defect, Transient ischemic att... ORPHA:500150
Osteogenesis Imperfecta, Type Vii
Hypoplastic pulmonary veins, Absent pulmonary artery OMIM:610682
Rajab Interstitial Lung Disease With Brain Calcifications 1
Portal hypertension, Abnormal pulmonary interstitial morphology, Emphysema OMIM:613658
Juvenile Polyposis Syndrome
Epistaxis, Spontaneous, recurrent epistaxis, Pulmonary arterial hypertension, Extrahepatic portal... ORPHA:2929

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 Hif3a

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 Hif3a.

No publications found that use IMPC mice or data for Hif3a.

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MGI Allele Allele Type Produced
Hif3atm1(NCOM)Cmhd Reporter-tagged deletion allele (with selection cassette) Targeting vectors, ES Cells

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