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Gene: Hif3a MGI:1859778

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

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 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
Atrial septal defect, Ventricular septal defect, Abnormal tricuspid valve morphology, Abnormal mi... ORPHA:1354
Pulmonary Atresia With Ventricular Septal Defect
Pulmonary artery atresia, Ventricular septal defect OMIM:178370
Pulmonary Atresia-Intact Ventricular Septum Syndrome
Pulmonary artery atresia, Abnormal tricuspid valve morphology ORPHA:1208
Cardiomyopathy, Dilated, 1R
Increased left ventricular end-diastolic volume, Congestive heart failure, Myofiber disarray, Dil... OMIM:613424
Atrioventricular Septal Defect, Susceptibility To, 2
Pulmonary artery atresia, Atrioventricular canal defect, Right aortic arch with mirror image bran... OMIM:606217
Tricuspid Atresia
Ventricular septal defect, Hypoplasia of right ventricle, Coarctation of aorta, Transposition of ... ORPHA:1209
Pulmonary Hypertension, Primary, 1
Elevated right atrial pressure, Right ventricular failure, Increased pulmonary vascular resistanc... OMIM:178600
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Increased left ventricular end-diastolic volume, Sudden cardiac death, Congestive heart failure, ... OMIM:601493
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects
Atrial fibrillation, Ventricular septal defect, Secundum atrial septal defect, Prolonged PR inter... OMIM:108900
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Ventricular septal defect, Congenital diaphragmatic hernia, Abnormal aortic morphology, Tetralogy... ORPHA:1166
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5
Skeletal muscle atrophy, Calf muscle pseudohypertrophy, Pneumonia, Flexion contracture, Right ven... OMIM:253700
Left Ventricular Noncompaction 10
Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy... OMIM:615396
Left Ventricular Noncompaction 8
Left ventricular diastolic dysfunction, Congestive heart failure, Dilated cardiomyopathy, Mitral ... OMIM:615373
Cardiomyopathy, Dilated, 1Gg
Congestive heart failure, Dilated cardiomyopathy, Reduced left ventricular ejection fraction, Lef... OMIM:613642
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Atrial fibrillation, Cardiac arrest, Myofiber disarray, Dilated cardiomyopathy, Atrioventricular ... OMIM:612158
Congenital Heart Defects, Multiple Types, 6
Ventricular septal defect, Hypoplastic pulmonary veins, Secundum atrial septal defect, Complete a... OMIM:613854
Bronchopulmonary Dysplasia
Right ventricular failure, Atelectasis, Abnormal lung morphology, Pulmonary sequestration, Emphys... ORPHA:70589
Left Ventricular Noncompaction 7
Left ventricular noncompaction, Left ventricular noncompaction cardiomyopathy OMIM:615092
Supravalvular Aortic Stenosis
Pulmonary artery stenosis, Peripheral arterial stenosis, Pulmonic stenosis, Supravalvular aortic ... OMIM:185500
Plectin-Related Limb-Girdle Muscular Dystrophy R17
Skeletal muscle atrophy, Axial muscle atrophy, Limb-girdle muscle weakness, Achilles tendon contr... ORPHA:254361
Mucus Inspissation Of Respiratory Tract
Recurrent respiratory infections, Atelectasis, Bronchiectasis OMIM:253240
Congenital Heart Defects, Multiple Types, 7
Absence of the pulmonary valve, Aortopulmonary collateral arteries, Right aortic arch, Pulmonic s... OMIM:618780
Cutis Laxa, Neonatal, With Marfanoid Phenotype
Emphysema, Congenital diaphragmatic hernia, Abnormal heart morphology OMIM:614100
Fadd-Related Immunodeficiency
Pulmonary artery atresia, Ventricular septal defect ORPHA:306550
Left Ventricular Noncompaction 1
Noncompaction cardiomyopathy, Atrial fibrillation, Ventricular septal defect, Left ventricular no... OMIM:604169
Cutis Laxa-Marfanoid Syndrome
Emphysema, Flexion contracture, Abnormal heart valve morphology, Congenital diaphragmatic hernia ORPHA:171719
Cardiomyopathy, Dilated, 1S
Tricuspid regurgitation, Bicuspid aortic valve, Sudden cardiac death, Congestive heart failure, D... OMIM:613426
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction
Pulmonary artery atresia, Ventricular septal defect OMIM:613759
Atrial Septal Defect, Sinus Venosus Type
Automatic atrial tachycardia, Atrial flutter, Tricuspid regurgitation, Left-to-right shunt, Atria... ORPHA:99105
Ventricular Septal Defect 3
Atrial septal defect, Pulmonary artery stenosis, Ventricular septal defect OMIM:614432
Klippel-Trénaunay Syndrome
Gastrointestinal hemorrhage, Pulmonary embolism, Congestive heart failure, Abnormal tricuspid val... ORPHA:90308
Cardiomyopathy, Familial Hypertrophic, 4
First degree atrioventricular block, Cardiomegaly, Right atrial enlargement, Atrioventricular blo... OMIM:115197
Familial Isolated Restrictive Cardiomyopathy
Recurrent respiratory infections, Atrial fibrillation, Tricuspid regurgitation, Left atrial enlar... ORPHA:75249
Emphysema, Hereditary Pulmonary
Emphysema, Chronic bronchitis OMIM:130700
Ciliary Dyskinesia, Primary, 29
Recurrent respiratory infections, Atelectasis, Bronchiectasis OMIM:615872
Cardiac Valvular Dysplasia 2
Aortic regurgitation, Increased left ventricular end-diastolic volume, Tricuspid regurgitation, B... OMIM:620067
Cardiomyopathy, Familial Restrictive, 3
Myocardial sarcomeric disarray, Abnormal ST segment, Aortic aneurysm, Reduced left ventricular ej... OMIM:612422
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness
Atelectasis, Recurrent bronchitis OMIM:300455
Scimitar Syndrome
Heart block, Abnormal lung morphology, Hypoplasia of the diaphragm, Pulmonary artery hypoplasia, ... ORPHA:185
Deafness, Congenital Heart Defects, And Posterior Embryotoxon
Tetralogy of Fallot, Ventricular septal defect, Peripheral pulmonary artery stenosis OMIM:617992
Dextrocardia
Abnormal EKG, Dextrocardia, Situs inversus totalis, Abnormal lung lobation, Abnormal heart morpho... ORPHA:1666
Congenital Rubella Syndrome
Atrial septal defect, Abnormality of the pulmonary artery, Ventricular septal defect ORPHA:290
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Recurrent respiratory infections, Left-to-right shunt, Ventricular septal defect, Congestive hear... ORPHA:99050
Atrial Fibrillation, Familial, 10
Atrial flutter, Paroxysmal atrial fibrillation, Tricuspid regurgitation, Left atrial enlargement,... OMIM:614022
Cardiomyopathy, Dilated, 2D
Perinuclear cardiomyocyte vacuolization, Tricuspid regurgitation, Muscular ventricular septal def... OMIM:619371
Aniridia-Cerebellar Ataxia-Intellectual Disability Syndrome
Abnormality of the pulmonary artery ORPHA:1065
Atrial Standstill
Skeletal muscle atrophy, Flexion contracture, Ventricular tachycardia, Mobitz I atrioventricular ... ORPHA:1344
Right Atrial Isomerism
Right atrial isomerism, Ventricular septal defect, Dextrocardia, Aortopulmonary collateral arteri... OMIM:208530
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Recurrent respiratory infections, Atelectasis, Bronchiectasis OMIM:619466
Ciliary Dyskinesia, Primary, 33
Atelectasis, Recurrent pneumonia, Bronchiectasis, Recurrent lower respiratory tract infections, R... OMIM:616726
Atrial Septal Defect, Ostium Primum Type
First degree atrioventricular block, Atrioventricular block, Right ventricular dilatation, Fixed ... ORPHA:99106
Ciliary Dyskinesia, Primary, 21
Atelectasis, Recurrent pneumonia, Bronchiectasis OMIM:615294
Diabetic Embryopathy
Ventricular septal defect, Aplasia/Hypoplasia of the abdominal wall musculature, Abnormal aortic ... ORPHA:1926
Waardenburg Syndrome Type 2
Abnormality of the pulmonary artery ORPHA:895
Lmna-Related Cardiocutaneous Progeria Syndrome
Ventricular hypertrophy, Mitral valve calcification, Congestive heart failure, Emphysema, Intracr... ORPHA:363618
Atrial Septal Defect, Coronary Sinus Type
Unroofed coronary sinus, Bundle branch block, Left-to-right shunt, Abnormally loud pulmonic compo... ORPHA:99104
Arterial Calcification, Generalized, Of Infancy, 2
Tricuspid regurgitation, Myocardial infarction, Cardiomegaly, Coronary artery calcification, Cong... OMIM:614473
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14
Ventricular tachycardia, Left bundle branch block, Premature ventricular contraction, Right ventr... OMIM:618920
Asbestos Intoxication
Right ventricular failure, Atelectasis, Pleural thickening, Cor pulmonale, Myocardial fibrosis, A... ORPHA:2302
Coronary Arterial Fistula
Abnormal EKG, Elevated jugular venous pressure, Continuous heart murmur, Bicuspid aortic valve, T... ORPHA:2041
Heterotaxy, Visceral, 8, Autosomal
Atrial situs inversus, Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Aortopulm... OMIM:617205
Bronchogenic Cyst
Pulmonary cyst, Pneumonia, Abnormal pericardium morphology, Abnormal pleura morphology, Atelectas... ORPHA:2357
X-Linked Mandibulofacial Dysostosis
Abnormal mitral valve morphology, Abnormality of the pulmonary artery, Pulmonic stenosis ORPHA:1131
Cardiac Diverticulum
Bicuspid aortic valve, Bicuspid pulmonary valve, Ventricular tachycardia, Pulmonary artery hypopl... ORPHA:1686
Cirrhotic Cardiomyopathy
Prolonged QT interval, Elevated jugular venous pressure, Pulmonary edema, Left atrial enlargement... ORPHA:57777
Cardiomyopathy, Dilated, 1D
Prolonged QT interval, Increased left ventricular end-diastolic volume, Atrial fibrillation, Sudd... OMIM:601494
Heterotaxy, Visceral, 7, Autosomal
Dextrocardia, Mitral atresia, Situs inversus totalis, Common atrium, Hypoplasia of right ventricl... OMIM:616749
Congenital Heart Defects, Multiple Types, 9
Mitral atresia, Aortopulmonary collateral arteries, Double outlet right ventricle, Single ventric... OMIM:620294
Heterotaxy, Visceral, 4, Autosomal
Ventricular septal defect, Dextrocardia, Complete atrioventricular canal defect, Dextrotransposit... OMIM:613751
Infant Acute Respiratory Distress Syndrome
Tachycardia, Pneumonia, Cardiac arrest, Respiratory tract infection, Atelectasis, Bradycardia, Hy... ORPHA:70587
Idiopathic/Heritable Pulmonary Arterial Hypertension
Tricuspid regurgitation, Abnormal cardiovascular system physiology, Heart murmur, Right ventricul... ORPHA:422
Cardiomyopathy, Familial Hypertrophic, 26
Atrial fibrillation, Left atrial enlargement, Sudden cardiac death, Congestive heart failure, Per... OMIM:617047
Sick Sinus Syndrome 2
Aortic regurgitation, Paroxysmal atrial fibrillation, Atrial fibrillation, Cardiac arrest, Sudden... OMIM:163800
Congenitally Corrected Transposition Of The Great Arteries
Wolff-Parkinson-White syndrome, Atrial situs ambiguous, First degree atrioventricular block, Hear... ORPHA:216694
Noonan Syndrome With Multiple Lentigines
Abnormal endocardium morphology, Bundle branch block, Scapular winging, Abnormal pulmonary valve ... ORPHA:500
Congenital Gerbode Defect
Elevated right atrial pressure, Tricuspid regurgitation, Ventricular septal defect, Left-to-right... ORPHA:99095
Acute Interstitial Pneumonia
Peribronchovascular interstitial thickening, Nodular pattern on pulmonary HRCT, Pericardial effus... ORPHA:79126
Hadziselimovic Syndrome
Ventricular hypertrophy, Ventricular septal defect, Atrial septal defect, Tetralogy of Fallot, Pu... OMIM:612946
Atrial Septal Defect, Ostium Secundum Type
Bundle branch block, First degree atrioventricular block, Right ventricular dilatation, Abnormal ... ORPHA:99103
Familial Idiopathic Dilatation Of The Right Atrium
Abnormal cardiac ventricular function, Paroxysmal atrial fibrillation, Tricuspid regurgitation, A... ORPHA:1677
Congenital Tricuspid Valve Dysplasia
Tricuspid regurgitation, Cardiomegaly, Pericardial effusion, Anomalous pulmonary venous return, A... ORPHA:555874
Isolated Right Ventricular Hypoplasia
Tricuspid regurgitation, Abnormal atrioventricular conduction, Cardiomegaly, Right ventricular fa... ORPHA:439
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy
Facial palsy, Left ventricular noncompaction cardiomyopathy, Left atrial enlargement, Cardiogenic... OMIM:619424
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Wolff-Parkinson-White syndrome, Tricuspid regurgitation, Bronchiectasis, Right ventricular dilata... OMIM:619705
Peripartum Cardiomyopathy
Ventricular tachycardia, Left bundle branch block, Right ventricular dilatation, Abnormal T-wave,... ORPHA:563
Duodenal Atresia
Abnormality of the pulmonary artery ORPHA:1203
Long Qt Syndrome 15
Ventricular ectopy, 2:1 atrioventricular block, Cardiac arrest, Polymorphic ventricular tachycard... OMIM:616249
Right Pulmonary Artery, Anomalous Origin Of, Familial
Patent foramen ovale, Ventricular septal defect, Anomalous origin of right pulmonary artery from ... OMIM:610338
Idiopathic Bronchiectasis
Myocardial infarction, Respiratory tract infection, Emphysema, Bronchiectasis, Acute infectious p... ORPHA:60033
14Q24.1Q24.3 Microdeletion Syndrome
Ventricular septal defect, Abnormal heart morphology, Atrial septal defect, Truncus arteriosus, P... ORPHA:401935
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13
Right ventricular dilatation, Ventricular tachycardia, First degree atrioventricular block, Left ... OMIM:615616
Ciliary Dyskinesia, Primary, 20
Atrial situs inversus, Recurrent respiratory infections, Ventricular septal defect, Dextrocardia,... OMIM:615067
Primary Ciliary Dyskinesia
Recurrent sinopulmonary infections, Abnormal atrial arrangement, Atrial situs ambiguous, Peribron... ORPHA:244
Truncus Arteriosus
Anomalous origin of one pulmonary artery from ascending aorta, Cardiomegaly, Abnormal lung lobati... ORPHA:3384
Congenital Lobar Emphysema
Emphysema ORPHA:1928
Waardenburg Syndrome Type 3
Atrial septal defect, Atelectasis, Camptodactyly of finger ORPHA:896
Respiratory Distress Syndrome In Premature Infants
Atelectasis, Pulmonary edema OMIM:267450
Pagod Syndrome
Sudden cardiac death, Congenital diaphragmatic hernia, Situs inversus totalis, Pulmonary artery h... ORPHA:991
Meconium Aspiration Syndrome
Atelectasis, Pneumothorax, Abnormal heart rate variability, Aspiration pneumonia, Pulmonary arter... ORPHA:70588
Sarcoidosis, Susceptibility To, 2
Facial palsy, Pneumothorax, Bronchiectasis, Abnormal pulmonary interstitial morphology, Pleural e... OMIM:612387
Primary Pulmonary Hypoplasia
Recurrent respiratory infections, Dextrocardia, Abnormal hemidiaphragm morphology, Secundum atria... ORPHA:2257
C1Q Deficiency 2
Atelectasis, Recurrent lower respiratory tract infections, Bronchiectasis, Vasculitis in the skin OMIM:620321
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency
Spontaneous neonatal pneumothorax, Intraalveolar phospholipid accumulation, Abnormal pulmonary in... ORPHA:217563
Familial Nasal Acilia
Atelectasis, Recurrent upper respiratory tract infections, Bronchiectasis ORPHA:922
Recurrent Respiratory Papillomatosis
Atelectasis, Abnormal lung morphology, Recurrent pneumonia, Recurrent upper respiratory tract inf... ORPHA:60032
Heterotaxy, Visceral, 12, Autosomal
Dextrotransposition of the great arteries, Pulmonary artery atresia, Atrial septal defect, Patent... OMIM:619702
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Recurrent respiratory infections, Ventricular septal defect, Atelectasis, Cystic pattern on pulmo... OMIM:610978
Microphthalmia, Syndromic 9
Ventricular septal defect, Congenital diaphragmatic hernia, Agenesis of pulmonary vessels, Hypopl... OMIM:601186
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Tricuspid regurgitation, Left ventricular systolic dysfunction, Dilated cardiomyopathy, Mitral re... OMIM:619167
Cardiac Valvular Dysplasia 1
Tricuspid regurgitation, Ventricular septal defect, Left atrial enlargement, Tricuspid stenosis, ... OMIM:212093
Double Outlet Right Ventricle
Tachycardia, Ventricular septal defect, Double outlet right ventricle, Heart murmur, Coarctation ... ORPHA:3426
Birt-Hogg-Dubé Syndrome
Emphysema, Pneumothorax, Pulmonary sequestration ORPHA:122
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea
Tricuspid regurgitation, Atelectasis, Bronchiectasis, Recurrent lower respiratory tract infection... OMIM:620233
Allergic Bronchopulmonary Aspergillosis
Pulmonary arterial hypertension, Emphysema, Bronchiectasis ORPHA:1164
Tempi Syndrome
Intracranial hemorrhage, Transudative pleural effusion, Abnormality of the pulmonary vasculature,... ORPHA:284227
Bare Lymphocyte Syndrome, Type I
Bronchiolitis, Emphysema, Bronchiectasis, Recurrent bronchitis OMIM:604571
Congenital Tracheomalacia
Ventricular septal defect, Pneumonia, Cardiomegaly, Partial anomalous pulmonary venous return, Pn... ORPHA:95430
Mitochondrial Complex Iv Deficiency, Nuclear Type 13
Aortic regurgitation, Tricuspid regurgitation, Reduced left ventricular ejection fraction, Left v... OMIM:616501
Berry Aneurysm, Cirrhosis, Pulmonary Emphysema, And Cerebral Calcification
Emphysema, Portal hypertension OMIM:210050
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Recurrent respiratory infections, Ventricular septal defect, Parachute mitral valve, Pulmonary hy... OMIM:618316
Naxos Disease
Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Prolonged ... OMIM:601214
Kallmann Syndrome-Heart Disease Syndrome
Aortic regurgitation, Congestive heart failure, Dilated cardiomyopathy, Heart murmur, Right aorti... ORPHA:2326
Tracheobronchopathia Osteochondroplastica
Recurrent respiratory infections, Pneumonia, Bronchitis, Atelectasis, Recurrent pneumonia ORPHA:3348
Alpha-1-Antitrypsin Deficiency
Emphysema ORPHA:60
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Respiratory tract infection, Hypersensitivity pneumonitis, Bronchiectasis, Honeycomb lung, Chroni... ORPHA:79127
Ciliary Dyskinesia, Primary, 1
Pneumonia, Situs inversus totalis, Atelectasis, Bronchiectasis, Recurrent bronchitis OMIM:244400
Heterotaxy, Visceral, 5, Autosomal
Atrial reentry tachycardia, Bilateral trilobed lung, Right atrial isomerism, Ventricular septal d... OMIM:270100
Myotubular Myopathy With Abnormal Genital Development
Myopathy, Atelectasis, Centrally nucleated skeletal muscle fibers OMIM:300219
Scleromyxedema
Transient ischemic attack, Raynaud phenomenon, Abnormal lung morphology, Abnormal skeletal muscle... ORPHA:167635
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Myositis, Absent muscle fiber merosin, Facial palsy, Atelectasis, Flexion contracture, Cardiomyop... ORPHA:258
Cutis Laxa, Autosomal Dominant 1
Aortic regurgitation, Ventricular septal defect, Congestive heart failure, Bronchiectasis, Mitral... OMIM:123700
Phaver Syndrome
Ventricular septal defect, Camptodactyly of finger, Hypoplastic aortic arch, Coarctation of aorta... ORPHA:2876
Epidermodysplasia Verruciformis, Susceptibility To, 4
Emphysema OMIM:618307
Double Outlet Left Ventricle
Double outlet left ventricle, Ventricular septal defect, Cardiomegaly, Pulmonary artery stenosis,... ORPHA:3427
Fanconi Renotubular Syndrome 5
Hypertension, Emphysema, Pulmonary fibrosis, Lung adenocarcinoma OMIM:618913
Seckel Syndrome 9
Recurrent respiratory infections, Ventricular septal defect, Congenital diaphragmatic hernia, Pul... OMIM:616777
Glycogen Storage Disease Due To Acid Maltase Deficiency
Thoracic aortic aneurysm, Facial hypotonia, Transient ischemic attack, Glycogen accumulation in m... ORPHA:365
Idiopathic Chronic Eosinophilic Pneumonia
Atelectasis, Pleural effusion, Hypersensitivity pneumonitis ORPHA:2902
Adams-Oliver Syndrome 5
Right atrial enlargement, Pulmonic stenosis, Pulmonary arterial hypertension, Patent foramen oval... OMIM:616028
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs
Ventricular septal defect, Congenital diaphragmatic hernia, Pulmonary artery stenosis, Bilateral ... OMIM:611812
Multisystemic Smooth Muscle Dysfunction Syndrome
Aortic arch aneurysm, Thoracic aortic aneurysm, Hypertension, Atrial septal defect, Pulmonary art... OMIM:613834
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Bicuspid aortic valve, Parachute mitral valve, Abnormal lung lobation, Atrial septal defect, Atri... OMIM:265380
Cutis Laxa, Autosomal Recessive, Type Ic
Posterolateral diaphragmatic hernia, Morgagni diaphragmatic hernia, Atelectasis, Recurrent pneumo... OMIM:613177
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Right ventricular dilatation, Myopathy, Limb-girdle muscular dystrophy, Muscular dystrophy, Muscl... ORPHA:369840
Aminopterin/Methotrexate Embryofetopathy
Situs inversus totalis, Tetralogy of Fallot, Ventricular septal defect, Pulmonary artery atresia ORPHA:1908
Homozygous Familial Hypercholesterolemia
Premature arteriosclerosis, Angina pectoris, Myocardial infarction, Sudden cardiac death, Precoci... ORPHA:391665
Cardiac, Facial, And Digital Anomalies With Developmental Delay
Mitral atresia, Double outlet right ventricle, Supravalvar pulmonary stenosis, Coarctation of aor... OMIM:618164
Ritscher-Schinzel Syndrome 2
Ventricular septal defect, Camptodactyly of finger, Pulmonary artery hypoplasia, Camptodactyly, A... OMIM:300963
Diaphragmatic Hernia 4, With Cardiovascular Defects
Ventricular septal defect, Aortopulmonary collateral arteries, Aortopulmonary window, Pulmonary a... OMIM:620025
Loeys-Dietz Syndrome 4
Torticollis, Bicuspid aortic valve, Pneumothorax, Mitral valve prolapse, Ascending tubular aorta ... OMIM:614816
Velocardiofacial Syndrome
Ventricular septal defect, Interrupted aortic arch, Unilateral primary pulmonary dysgenesis, Pulm... OMIM:192430
Cutis Laxa, Autosomal Recessive, Type Ia
Recurrent respiratory infections, Congenital diaphragmatic hernia, Ascending tubular aorta aneury... OMIM:219100
Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia Syndrome
Right ventricular dilatation, Myopathy, Limb-girdle muscular dystrophy ORPHA:369847
Atypical Werner Syndrome
Skeletal muscle atrophy, Telangiectasia of the skin, Aortic valve calcification, Congestive heart... ORPHA:79474
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Ventricular septal defect, Abnormal left ventricular function, Pulmonic stenosis, Pulmonary arter... OMIM:301056
Whim Syndrome
Pneumonia, Respiratory tract infection, Atelectasis, Recurrent upper respiratory tract infections... ORPHA:51636
Lymphangioleiomyomatosis
Gastrointestinal hemorrhage, Recurrent respiratory infections, Atelectasis, Pneumothorax, Chylope... ORPHA:538
Flna-Related X-Linked Myxomatous Valvular Dysplasia
Aortic regurgitation, Tricuspid regurgitation, Bicuspid aortic valve, Mitral valve prolapse, Mitr... ORPHA:555877
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Pericardial effusion, Restrictive cardiomyopathy, Right atrial enlargement, Endocardial fibroelas... OMIM:619313
Congenital Total Pulmonary Venous Return Anomaly
Atrial situs ambiguous, Cardiomegaly, Mixed total anomalous pulmonary venous connection, Atrial s... ORPHA:99125
Adams-Oliver Syndrome
Gastrointestinal hemorrhage, Abnormal pulmonary valve morphology, Portal hypertension, Pulmonary ... ORPHA:974
Chromosome 6Q24-Q25 Deletion Syndrome
Persistent fetal circulation, Tricuspid regurgitation, Dysplastic tricuspid valve, Mitral valve p... OMIM:612863
Chronic Thromboembolic Pulmonary Hypertension
Cardiac shunt, Pulmonary embolism, Right ventricular failure, Increased pulmonary vascular resist... ORPHA:70591
Congenital Tracheal Stenosis
Ventricular septal defect, Ascending aorta hypoplasia, Abnormal lung morphology, Abnormal lung lo... ORPHA:141127
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome
Epistaxis, Pulmonary arteriovenous malformation, Telangiectasia, Hematochezia, Mitral valve prola... OMIM:175050
Focal Dermal Hypoplasia
Ventricular septal defect, Camptodactyly of finger, Diastasis recti, Congenital diaphragmatic her... ORPHA:2092
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7
Emphysema, Pulmonary fibrosis, Portal hypertension OMIM:620365
Lymphedema-Distichiasis Syndrome
Arrhythmia, Abnormality of the pulmonary vasculature ORPHA:33001
Tropical Endomyocardial Fibrosis
Prolonged QRS complex, Restrictive cardiomyopathy, Cardiomegaly, Atrioventricular block, Left bun... ORPHA:75565
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities
Pulmonary artery atresia, Ventricular septal defect, Patent foramen ovale OMIM:620113
Lujo Hemorrhagic Fever
Shock, Myocarditis, Atelectasis, Subconjunctival hemorrhage, Bradycardia, Hypotension ORPHA:319213
Keutel Syndrome
Peripheral pulmonary artery stenosis, Ventricular septal defect, Hypertension, Pulmonary artery h... OMIM:245150
Farber Disease
Skeletal muscle atrophy, CNS foam cells, Nodular pattern on pulmonary HRCT, Atelectasis, Flexion ... ORPHA:333
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly
Absent pulmonary artery, Tetralogy of Fallot, Ventricular septal defect, Coarctation of aorta OMIM:600460
T-Cell Immunodeficiency With Thymic Aplasia
Recurrent bronchopulmonary infections, Emphysema, Recurrent pneumonia, Bronchiectasis OMIM:242700
Mosaic Trisomy 1
Ventricular septal defect, Camptodactyly of finger, Congenital diaphragmatic hernia, Elbow flexio... ORPHA:1692
Heart Block, Congenital
Atrioventricular block, Myocardial fibrosis, Myocardial calcification, Absent atrioventricular no... OMIM:234700
Fabry Disease
Abnormal endocardium morphology, Conjunctival telangiectasia, Bundle branch block, Angina pectori... ORPHA:324
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Ventricular hypertrophy, Recurrent respiratory infections, Cardiomegaly, Atelectasis, Pulmonary f... OMIM:618278
Autosomal Dominant Hyper-Ige Syndrome
Atelectasis, Recurrent respiratory infections ORPHA:2314
Neonatal Marfan Syndrome
Tricuspid regurgitation, Abnormal cardiac ventricle morphology, Flexion contracture, Heart murmur... ORPHA:284979
Peters Plus Syndrome
Bicuspid pulmonary valve, Abnormal pulmonary vein morphology, Abnormal cardiac septum morphology,... ORPHA:709
Heart Defects, Congenital, And Other Congenital Anomalies
Double outlet left ventricle, Ventricular septal defect, Congenital diaphragmatic hernia, Patent ... OMIM:600001
Relapsing Polychondritis
Abnormal endocardium morphology, Pericarditis, Myocarditis, Atelectasis, Large vessel vasculitis,... ORPHA:728
Autosomal Recessive Cutis Laxa Type 1
Abnormal cardiac ventricular function, Congestive heart failure, Dilatation of the ventricular ca... ORPHA:90349
Alg9-Cdg
Torticollis, Tricuspid regurgitation, Ventricular septal defect, Hypoplasia of the musculature, P... ORPHA:79328
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Torticollis, Multiple joint contractures, Thoracic aortic aneurysm, Repeated pneumothoraces, Atel... ORPHA:536467
Short-Rib Thoracic Dysplasia 12
Atelectasis, Ventricular septal defect, Patent foramen ovale, Pulmonary hypoplasia OMIM:269860
Nestor-Guillermo Progeria Syndrome
Left atrial enlargement, Flexion contracture, Right bundle branch block, Hypertension, Mitral reg... OMIM:614008
Coffin-Siris Syndrome 4
Ventricular septal defect, Mitral atresia, Macroglossia, Pulmonic stenosis, Atrial septal defect,... OMIM:614609
Robinow Syndrome, Autosomal Dominant 3
Tricuspid regurgitation, Ventricular septal defect, Hypoplastic right heart, Camptodactyly, Pulmo... OMIM:616894
Zygomycosis
Gastrointestinal hemorrhage, Pericarditis, Epistaxis, Hematemesis, Myocarditis, Atelectasis, Pneu... ORPHA:73263
Marfan Syndrome
Aortic regurgitation, Pulmonary artery dilatation, Decreased muscle mass, Tricuspid regurgitation... OMIM:154700
Ellis Van Creveld Syndrome
Ventricular septal defect, Dextrocardia, Abnormal heart valve morphology, Situs inversus totalis,... ORPHA:289
Cutis Laxa, Autosomal Recessive, Type Ib
Congenital diaphragmatic hernia, Emphysema, Aortic root aneurysm, Bradycardia, Pulmonary artery a... OMIM:614437
Common Variable Immunodeficiency
Recurrent respiratory infections, Pneumonia, Vasculitis, Bronchiectasis, Emphysema, Recurrent bro... ORPHA:1572
Marfan Syndrome
Pulmonary artery dilatation, Skeletal muscle atrophy, Mitral valve calcification, Spontaneous pne... ORPHA:558
Pauci-Immune Glomerulonephritis
Small vessel vasculitis, Arteritis, Abnormality of the pulmonary vasculature, Pulmonary hemorrhage ORPHA:93126
22Q11.2 Deletion Syndrome
Gastrointestinal hemorrhage, Ventricular septal defect, Abnormal pulmonary valve morphology, Atel... ORPHA:567
Unilateral Polymicrogyria
Epistaxis, Pulmonary arteriovenous malformation, Abnormal heart morphology ORPHA:268943
Telangiectasia, Hereditary Hemorrhagic, Type 4
Conjunctival telangiectasia, Spontaneous, recurrent epistaxis, Transient ischemic attack, Cerebra... OMIM:610655
Stuve-Wiedemann Syndrome 1
Elbow flexion contracture, Pulmonary arterial medial hypertrophy, Knee flexion contracture, Pulmo... OMIM:601559
Autosomal Dominant Cutis Laxa
Aortic regurgitation, Congestive heart failure, Dilatation of the ventricular cavity, Bronchiecta... ORPHA:90348
Ehlers-Danlos Syndrome, Vascular Type
Pulmonary bulla, Recurrent intrapulmonary hemorrhage, Spontaneous pneumothorax, Repeated pneumoth... OMIM:130050
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Bicuspid aortic valve, Abnormal pulmonary valve morphology, Pulmonary artery sling, Flexion contr... ORPHA:261537
Sarcoidosis, Susceptibility To, 1
Pericardial effusion, Bronchiectasis, Abnormal pulmonary interstitial morphology, Pleural effusio... OMIM:181000
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Atrial septal defect, Right atrial enlargement OMIM:615219
Nocardiosis
Pericarditis, Abnormal heart valve morphology, Pneumonia, Pneumothorax, Endocarditis, Pleural eff... ORPHA:31204
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Bicuspid aortic valve, Ventricular septal defect, Abnormal pulmonary valve morphology, Pulmonary ... ORPHA:261552
Telangiectasia, Hereditary Hemorrhagic, Type 2
Conjunctival telangiectasia, Tongue telangiectasia, Palate telangiectasia, Pulmonary arteriovenou... OMIM:600376
Granulomatous Disease, Chronic, X-Linked
Atelectasis, Pleural effusion, Recurrent pneumonia OMIM:306400
Tetraamelia Syndrome 1
Peripheral pulmonary vessel aplasia, Pulmonary hypoplasia, Congenital diaphragmatic hernia OMIM:273395
Viss Syndrome
Epidural hemorrhage, Ventricular septal defect, Abnormal branching pattern of the aortic arch, Co... OMIM:619472
Telangiectasia, Hereditary Hemorrhagic, Type 1
Conjunctival telangiectasia, Tongue telangiectasia, Palate telangiectasia, Pulmonary arteriovenou... OMIM:187300
Chand Syndrome
Atelectasis ORPHA:1401
Hyperlysinemia
Pulmonary artery hypoplasia, Recurrent pneumonia ORPHA:2203
Biliary, Renal, Neurologic, And Skeletal Syndrome
Secundum atrial septal defect, Primum atrial septal defect, Inlet ventricular septal defect, Atri... OMIM:619534
Digeorge Syndrome
Ventricular septal defect, Atelectasis, Recurrent pneumonia, Interrupted aortic arch, Recurrent s... OMIM:188400
Lipodystrophy, Familial Partial, Type 7
Orthostatic hypotension, Spontaneous pneumothorax, Pulmonary arteriovenous malformation, Hyperten... OMIM:606721
Oculocerebrorenal Syndrome Of Lowe
Atelectasis, Recurrent respiratory infections ORPHA:534
Charge Syndrome
Overriding aorta, Ventricular septal defect, Facial palsy, Secundum atrial septal defect, Dysplas... OMIM:214800
Osteogenesis Imperfecta, Type Vii
Absent pulmonary artery, Hypoplastic pulmonary veins OMIM:610682
Juvenile Polyposis Syndrome
Gastrointestinal hemorrhage, Spontaneous, recurrent epistaxis, Transient ischemic attack, Epistax... 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.

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

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