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 1, alpha subunit
Synonyms:
HIF-1alpha,  bHLHe78,  HIF1alpha,  MOP1

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 Hif1a 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 Hif1a by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Lambert Syndrome
Branchial anomaly, Ventricular septal defect, Intrauterine growth retardation ORPHA:1296
Lymphatic Malformation 8
Nonimmune hydrops fetalis, Pericardial effusion, Stillbirth, Polyhydramnios, Pleural effusion, Ge... OMIM:618773
Cardiomyopathy, Dilated, 1A
Dilated cardiomyopathy, Third degree atrioventricular block, Sinus bradycardia, Atrial fibrillati... OMIM:115200
Nephrosialidosis
Bone-marrow foam cells, Pericardial effusion, Ascites OMIM:256150
Cardiomyopathy, Familial Hypertrophic, 4
Hypertrophic cardiomyopathy, Syncope, Pericardial effusion, Ascites, Atrioventricular block, Vent... OMIM:115197
Choanal Atresia And Lymphedema
Pericardial effusion, Lymphedema OMIM:613611
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Dilated cardiomyopathy, Syncope, Atrial fibrillation, Ventricular arrhythmia, Cardiac conduction ... ORPHA:300751
Left Ventricular Noncompaction 7
Left ventricular noncompaction cardiomyopathy, Left ventricular noncompaction OMIM:615092
Left Ventricular Noncompaction 1
Left ventricular noncompaction cardiomyopathy, Ventricular septal defect, Patent ductus arteriosu... OMIM:604169
Pericardial Effusion, Chronic
Constrictive pericarditis, Pericardial effusion OMIM:260900
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Dilated cardiomyopathy, Left ventricular noncompaction, Endocardial fibrosis, Left ventricular hy... OMIM:601493
Adams-Oliver Syndrome 4
Ventricular septal defect, Atrial septal defect, Umbilical hernia, Patent ductus arteriosus OMIM:615297
Cantu Syndrome
Bicuspid aortic valve, Pericardial effusion, Cardiomegaly, Patent ductus arteriosus, Congenital h... OMIM:239850
Primary Effusion Lymphoma
Pleural effusion, Pericardial effusion ORPHA:48686
Left Ventricular Noncompaction 10
Dilated cardiomyopathy, Left ventricular noncompaction OMIM:615396
Cardiomyopathy, Dilated, 1R
Dilated cardiomyopathy, Restrictive cardiomyopathy, Left ventricular noncompaction, Left ventricu... OMIM:613424
X-Linked Mandibulofacial Dysostosis
Short stature, Abnormal mitral valve morphology, Webbed neck, Pulmonic stenosis, Branchial anomal... ORPHA:1131
Hydrops Fetalis
Nonimmune hydrops fetalis, Pericardial effusion, Ascites, Capillary leak, Abnormal heart morpholo... ORPHA:1041
Congenital Pulmonary Lymphangiectasia
Chylopericardium, Ascites, Pulmonary arterial hypertension, Tricuspid regurgitation, Pulmonic ste... ORPHA:2414
Cayler Cardiofacial Syndrome
Ventricular septal defect, Tetralogy of Fallot, Patent ductus arteriosus OMIM:125520
Lymphatic Malformation 7
Nonimmune hydrops fetalis, Pericardial effusion, Edema, Facial edema, Atrial septal defect, Pulmo... OMIM:617300
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Dilated cardiomyopathy, Endocardial fibrosis, Endocardial fibroelastosis, Cardiomyocyte hypertrop... OMIM:612158
Congenital Disorder Of Glycosylation, Type Il
Cerebellar atrophy, Pericardial effusion, Ascites, Edema, Abnormal cardiac septum morphology, Sho... OMIM:608776
Left Ventricular Noncompaction 8
Dilated cardiomyopathy, Left ventricular noncompaction, Abnormal left ventricle morphology OMIM:615373
Mesoaxial Hexadactyly And Cardiac Malformation
Ventricular septal defect, Short stature, Torticollis, Patent ductus arteriosus, Pulmonic stenosi... OMIM:249670
Combined Oxidative Phosphorylation Deficiency 31
Hypertrophic cardiomyopathy, Left ventricular noncompaction OMIM:617228
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Abnormal mitochondria in muscle tissue, Ragg... OMIM:252011
Vulvovaginal Gingival Syndrome
Abnormality of tumor necrosis factor secretion ORPHA:83453
Pulmonary Atresia-Intact Ventricular Septum Syndrome
Abnormal tricuspid valve morphology, Pulmonary artery atresia, Patent ductus arteriosus ORPHA:1208
Alkuraya-Kucinskas Syndrome
Pericardial effusion, Cerebellar dysplasia, Webbed neck, Edema, Arthrogryposis multiplex congenit... OMIM:617822
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases
Mitral valve prolapse, Joint contracture of the hand, Spina bifida, Camptodactyly, Small thenar e... OMIM:211960
Mitochondrial Complex Iv Deficiency, Nuclear Type 13
Hypertrophic cardiomyopathy, Left ventricular noncompaction, Patent ductus arteriosus OMIM:616501
Cardiomyopathy, Dilated, 1D
Dilated cardiomyopathy, Left ventricular noncompaction, Left ventricular hypertrophy OMIM:601494
Craniofaciofrontodigital Syndrome
Bicuspid aortic valve, Ventricular septal defect, Pericardial effusion, Macroglossia, Edema, Coar... ORPHA:363705
Cardiac, Facial, And Digital Anomalies With Developmental Delay
Double outlet right ventricle, Abnormal heart morphology, Coarctation of aorta, Cystic hygroma, P... OMIM:618164
Acute Lung Injury
Abnormality of serum cytokine level, Increased circulating surfactant protein level, Increased ci... ORPHA:178320
X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome
Branchial cyst, Ankle flexion contracture, Severe postnatal growth retardation, Knee flexion cont... ORPHA:435938
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Spina bifida, Ventricular septal defect, Hypoplastic left heart, Anencephaly ORPHA:2476
Hypertelorism And Other Facial Dysmorphism, Brachydactyly, Genital Abnormalities, Mental Retardation, And Recurrent Inflammatory Episodes
Pericardial effusion OMIM:614684
Coenzyme Q10 Deficiency, Primary, 7
Hypertrophic cardiomyopathy, Hypoplastic left heart, Intrauterine growth retardation, Patent duct... OMIM:616276
Branchiogenic-Deafness Syndrome
Branchial cyst, Branchial fistula, Short stature OMIM:609166
Congenital Tricuspid Valve Dysplasia
Pericardial effusion, Systolic heart murmur, Right ventricular hypertrophy, Cardiomegaly, Tricusp... ORPHA:555874
Neuronal Intestinal Pseudoobstruction
Congenital diaphragmatic hernia, Natal tooth, Abnormal cardiac septum morphology, Patent ductus a... ORPHA:99811
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Bicuspid aortic valve, Ventricular septal defect, Ascending tubular aorta aneurysm, Intrauterine ... ORPHA:453499
Spina Bifida-Hypospadias Syndrome
Spina bifida, Spinal dysraphism ORPHA:3176
Periventricular Nodular Heterotopia 1
Abnormality of neuronal migration, Bicuspid aortic valve, Gray matter heterotopia, Patent ductus ... OMIM:300049
Megabladder, Congenital
Left ventricular noncompaction cardiomyopathy, Bicuspid aortic valve, Ventricular septal defect, ... OMIM:618719
Pulmonary Capillary Hemangiomatosis
Right ventricular failure, Pericardial effusion, Elevated pulmonary artery pressure, Pulmonary ed... ORPHA:199241
Adult Acute Respiratory Distress Syndrome
Increased circulating interleukin 6, Abnormality of tumor necrosis factor secretion, Abnormal ser... ORPHA:70578
Craniofacial Microsomia
Ventricular septal defect, Coarctation of aorta, Patent ductus arteriosus, Hypoplasia of facial m... OMIM:164210
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Bicuspid aortic valve, Abnormal aortic valve morphology, Atrioventricular canal defect, Congenita... ORPHA:1120
Macrophage Activation Syndrome
Increased circulating interleukin 6, Increased circulating ferritin concentration, Abnormal serum... ORPHA:158061
Hypertelorism And Tetralogy Of Fallot
Patent ductus arteriosus, Tetralogy of Fallot, Tetralogy of Fallot with absent pulmonary valve, S... OMIM:239711
Cardiomyopathy, Dilated, 1S
Dilated cardiomyopathy, Bicuspid aortic valve, Coarctation of aorta, Pulmonary artery hypoplasia,... OMIM:613426
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Ventricular septal defect, Pericardial effusion, Joint contracture of the hand, Delayed eruption ... OMIM:235510
Isolated Klippel-Feil Syndrome
Ventricular septal defect, Webbed neck, Spina bifida, Low posterior hairline, Short neck, Congeni... ORPHA:2345
Branchiootic Syndrome 3
Branchial cyst OMIM:608389
Hypocomplementemic Urticarial Vasculitis
Pericardial effusion, Ascites, Angioedema, Abnormal heart valve morphology, Pleural effusion ORPHA:36412
Drug-Induced Lupus Erythematosus
Prolonged QTc interval, Pericarditis, Pericardial effusion ORPHA:231111
Congenital Enterovirus Infection
Myocarditis, Fetal ascites, Pericardial effusion, Cardiomyopathy, Polyhydramnios, Pleural effusio... ORPHA:292
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Neonatal death, Coarctation of aorta, Abnormal cardiac septum morphology, Patent ductus arteriosus OMIM:601612
Branchiootic Syndrome 1
Branchial fistula OMIM:602588
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Nonimmune hydrops fetalis, Pericardial effusion, Restrictive cardiomyopathy, Endocardial fibroela... OMIM:619313
Pulmonary Non-Tuberculous Mycobacterial Infection
Pleural effusion, Pericardial effusion ORPHA:411703
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Hypertrophic cardiomyopathy, Ventricular septal defect, Intrauterine growth retardation, Macroglo... OMIM:612938
Distal 22Q11.2 Microdeletion Syndrome
Ventricular septal defect, Truncus arteriosus, Intrauterine growth retardation, Short stature, Gr... ORPHA:261330
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Dilated cardiomyopathy, Ventricular septal defect, Prolonged QT interval, Pericardial effusion, V... ORPHA:26793
Branchiogenic Deafness Syndrome
Branchial cyst, Branchial fistula, Short stature ORPHA:50815
Acalvaria
Abnormality of neuronal migration, Holoprosencephaly, Spina bifida, Hydrocephalus ORPHA:945
Holoprosencephaly
Abnormality of neuronal migration, Ventricular septal defect, Abnormal aortic morphology, Holopro... ORPHA:2162
Atrial Standstill
Skeletal muscle atrophy, Abnormal heart morphology, Cardiomyopathy, Muscular dystrophy, Flexion c... ORPHA:1344
Distal 22Q11.2 Microduplication Syndrome
Ventricular septal defect, Branchial fistula, Webbed neck, Macroglossia, Tricuspid valve prolapse... ORPHA:261337
Alg3-Cdg
Dandy-Walker malformation, Coarctation of the descending aortic arch, Neural tube defect, Macrogl... ORPHA:79321
Aymé-Gripp Syndrome
Pericarditis, Pericardial effusion, Congenital diaphragmatic hernia, Patent ductus arteriosus, Hy... ORPHA:1272
Ophthalmoplegia, External, And Myopia
Spina bifida OMIM:311000
Branchiootic Syndrome
Branchial fistula, Facial palsy ORPHA:52429
Oligomeganephronia
Branchial cyst, Congenital diaphragmatic hernia, Secundum atrial septal defect ORPHA:2260
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Bicuspid aortic valve, Ventricular septal defect, Growth delay, Macroglossia, Abnormal heart morp... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Bicuspid aortic valve, Ventricular septal defect, Growth delay, Macroglossia, Abnormal heart morp... ORPHA:352665
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Ventricular septal defect, Intrauterine growth retardation, Patent ductus arteriosus OMIM:617021
Noonan Syndrome 8
Hypertrophic cardiomyopathy, Ventricular septal defect, Short stature, Webbed neck, Patent ductus... OMIM:615355
Ventricular Septal Defect 3
Pulmonary artery stenosis, Ventricular septal defect, Atrial septal defect, Patent ductus arteriosus OMIM:614432
Juvenile Idiopathic Arthritis
Joint swelling, Pericardial effusion ORPHA:92
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Bicuspid aortic valve, Truncus arteriosus, Coarctation of aorta, Patent ductus arteriosus, Transp... OMIM:612474
Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome
Pseudocoarctation of the aorta, Bicuspid aortic valve, Patent ductus arteriosus ORPHA:228190
Ritscher-Schinzel Syndrome 2
Ventricular septal defect, Growth delay, Patent ductus arteriosus, Broad neck, Atrial septal defe... OMIM:300963
Acute Interstitial Pneumonia
Peripheral edema, Pleural effusion, Pericardial effusion ORPHA:79126
Aicardi-Goutieres Syndrome 9
Pericarditis, Pericardial effusion, Ascites, Edema, Left ventricular hypertrophy, Lower limb hype... OMIM:619487
Pediatric Systemic Lupus Erythematosus
Pericardial effusion, Ascites, Myositis, Edema, Pleural effusion ORPHA:93552
Diarrhea 10, Protein-Losing Enteropathy Type
Pericardial effusion, Ascites, Anasarca, Polyhydramnios, Pleural effusion, Hematochezia OMIM:618183
Classical-Like Ehlers-Danlos Syndrome Type 2
Carotid artery stenosis, Mitral valve prolapse, Pericardial effusion, Aortic root aneurysm, Webbe... ORPHA:536532
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Hypertrophic cardiomyopathy, Ventricular septal defect, Pericardial effusion OMIM:618775
Congenital Disorder Of Glycosylation, Type Ia
Nonimmune hydrops fetalis, Pericardial effusion, Cardiomyopathy, Flexion contracture, Olivopontoc... OMIM:212065
Bor Syndrome
Branchial cyst, Facial palsy ORPHA:107
Short Stature, Developmental Delay, And Congenital Heart Defects
Ventricular septal defect, Proportionate short stature, Patent ductus arteriosus, Atrial septal d... OMIM:617044
Familial Hemophagocytic Lymphohistiocytosis
Abnormality of serum cytokine level, Increased circulating interleukin 6, Decreased circulating a... ORPHA:540
Diabetic Embryopathy
Ventricular septal defect, Abnormal aortic morphology, Aplasia/Hypoplasia of the abdominal wall m... ORPHA:1926
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Dilated cardiomyopathy, Neonatal death, Left ventricular hypertrophy, Left ventricular noncompact... OMIM:619167
Branchiootorenal Syndrome 1
Branchial cyst, Branchial fistula, Facial palsy OMIM:113650
Primary Intestinal Lymphangiectasia
Pericardial effusion, Ascites, Edema, Pleural effusion, Generalized edema ORPHA:90362
Alg9-Cdg
Ventricular septal defect, Right ventricular dilatation, Cerebellar atrophy, Pericardial effusion... ORPHA:79328
Neurooculocardiogenitourinary Syndrome
Ventricular septal defect, Redundant neck skin, Cardiomegaly, Patent ductus arteriosus, Atrial se... OMIM:618652
Lymphoproliferative Syndrome 1
Pleural effusion, Pericardial effusion OMIM:613011
Gaucher Disease Type 1
Abnormal myocardium morphology, Pericardial effusion, Ascites, Pedal edema ORPHA:77259
Periventricular Nodular Heterotopia
Periventricular heterotopia, Abnormal heart valve morphology, Patent ductus arteriosus, Aortic an... ORPHA:98892
Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies
Pseudocoarctation of the aorta, Bicuspid aortic valve, Patent ductus arteriosus OMIM:604381
Arteritis, Familial Granulomatous, With Juvenile Polyarthritis
Hypertension, Granulomatous coronary arteritis, Pleural effusion, Pericardial effusion OMIM:108050
Aminopterin/Methotrexate Embryofetopathy
Meningocele, Ventricular septal defect, Intrauterine growth retardation, Anencephaly, Short statu... ORPHA:1908
Frontal Encephalocele
Spina bifida, Hydrocephalus ORPHA:1931
Nephronophthisis 16
Hypertrophic cardiomyopathy, Situs inversus totalis, Patent ductus arteriosus, Pulmonic stenosis,... OMIM:615382
Myhre Syndrome
Ventricular septal defect, Pericardial effusion, Skeletal muscle hypertrophy, Generalized muscle ... OMIM:139210
8P23.1 Microdeletion Syndrome
Hypertrophic cardiomyopathy, Abnormal aortic morphology, Intrauterine growth retardation, Growth ... ORPHA:251071
Cleft Lip/Palate-Intestinal Malrotation-Cardiopathy Syndrome
Short neck, Abnormal aortic morphology, Hypoplastic left heart, Patent ductus arteriosus ORPHA:2001
Poems Syndrome
Edema, Pleural effusion, Pericardial effusion, Ascites ORPHA:2905
Familial Aortic Dissection
Aortic dissection, Mucoid extracellular matrix accumulation, Descending thoracic aorta aneurysm, ... ORPHA:229
Grange Syndrome
Ventricular septal defect, Arterial stenosis, Patent ductus arteriosus ORPHA:79094
Crimean-Congo Hemorrhagic Fever
Myocarditis, Subdural hemorrhage, Melena, Diffuse alveolar hemorrhage, Abnormal left ventricular ... ORPHA:99827
Anencephaly 1
Spina bifida, Anencephaly OMIM:206500
Neural Tube Defects, X-Linked
Spina bifida, Anencephaly OMIM:301410
Sick Sinus Syndrome 2
Left ventricular hypertrophy, Left ventricular noncompaction, Mitral valve prolapse OMIM:163800
Mosaic Trisomy 9
Dextrocardia, Dandy-Walker malformation, Ventricular septal defect, Webbed neck, Endocardial fibr... ORPHA:99776
Congenitally Uncorrected Transposition Of The Great Arteries
Interrupted aortic arch, Ventricular septal defect, Abnormal aortic arch morphology, Biventricula... ORPHA:860
Kaposiform Lymphangiomatosis
Epidural hemorrhage, Pericardial effusion, Subconjunctival hemorrhage, Epistaxis, Pleural effusion ORPHA:464329
Q Fever
Myocarditis, Pericarditis, Pericardial effusion, Endocarditis, Abnormal heart valve morphology, P... ORPHA:781
Kapur-Toriello Syndrome
Ventricular septal defect, Intrauterine growth retardation, Joint contracture of the hand, Patent... OMIM:244300
Autosomal Dominant Coarctation Of Aorta
Abnormal aortic arch morphology, Ventricular septal defect, Patent ductus arteriosus, Aortic arch... ORPHA:1455
Czeizel-Losonci Syndrome
Dextrocardia, Myelomeningocele, Aplasia of the left hemidiaphragm, Thickened nuchal skin fold, Sp... ORPHA:2437
Car T Cell Therapy-Associated Cytokine Release Syndrome
Abnormality of serum cytokine level, Abnormality of interleukin secretion, Increased serum interf... ORPHA:542323
Gaucher Disease Type 3
Pericardial effusion, Mitral valve calcification, Abnormal heart valve morphology, Aortic valve c... ORPHA:77261
Kapur-Toriello Syndrome
Ventricular septal defect, Patent ductus arteriosus, Pachygyria, Tetralogy of Fallot, Polymicrogy... ORPHA:2328
Naxos Disease
Dilated cardiomyopathy, Abnormal morphology of right ventricular trabeculae, Right ventricular ca... OMIM:601214
Chiari Malformation Type Ii
Myelomeningocele, Limb muscle weakness, Spina bifida, Hydrocephalus, Gray matter heterotopia OMIM:207950
Camptodactyly Syndrome, Guadalajara Type 1
Intrauterine growth retardation, Short stature, Abnormality of dental eruption, Spina bifida, Cam... ORPHA:1327
Cardiac Diverticulum
Bicuspid aortic valve, Tricuspid stenosis, Mitral stenosis, Bicuspid pulmonary valve, Patent duct... ORPHA:1686
Aortic Aneurysm, Familial Thoracic 4
Bicuspid aortic valve, Carotid artery stenosis, Ascending tubular aorta aneurysm, Aortic dissecti... OMIM:132900
Tubular Renal Disease-Cardiomyopathy Syndrome
Dilated cardiomyopathy, Pericardial effusion, Pulmonary edema, Congestive heart failure, Sudden c... ORPHA:73224
Fixed Subaortic Stenosis
Bicuspid aortic valve, Ventricular septal defect, Bacterial endocarditis, Ascending tubular aorta... ORPHA:3092
Nevus Comedonicus Syndrome
Spina bifida, Spina bifida occulta ORPHA:64754
Treacher-Collins Syndrome
Branchial fistula, Patent ductus arteriosus ORPHA:861
Cerebrocostomandibular Syndrome
Meningocele, Ventricular septal defect, Hydranencephaly, Intrauterine growth retardation, Myelome... ORPHA:1393
Partial Atrioventricular Septal Defect
Bicuspid aortic valve, Bacterial endocarditis, Partial atrioventricular canal defect, Double outl... ORPHA:1330
Noonan Syndrome 10
Hypertrophic cardiomyopathy, Ventricular septal defect, Mitral valve prolapse, Short stature, Web... OMIM:616564
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Left ventricular noncompaction cardiomyopathy, Ventricular septal defect, Right ventricular hyper... OMIM:300967
Schisis Association
Congenital diaphragmatic hernia, Spina bifida, Anencephaly ORPHA:63862
Fryns Microphthalmia Syndrome
Neural tube defect OMIM:600776
Hennekam Syndrome
Lymphedema, Pericardial effusion, Ascites, Delayed eruption of teeth, Camptodactyly of finger, Hy... ORPHA:2136
Hypoplastic Left Heart Syndrome
Mitral atresia, Mitral stenosis, Patent ductus arteriosus, Hypoplastic left heart, Atrial septal ... ORPHA:2248
Fanconi Anemia, Complementation Group B
Ventricular septal defect, Intrauterine growth retardation, Growth delay, Coarctation of aorta, P... OMIM:300514
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation
Branchial anomaly ORPHA:466950
Noonan Syndrome 2
Hypertrophic cardiomyopathy, Ventricular septal defect, Short stature, Atrioventricular canal def... OMIM:605275
Pericardial And Diaphragmatic Defect
Bicuspid aortic valve, Abnormal heart morphology, Congenital diaphragmatic hernia, Aplasia of the... ORPHA:2847
Generalized Arterial Calcification Of Infancy
Aortic dissection, Myocardial calcification, Pericardial effusion, Ascites, Ventricular hypertrop... ORPHA:51608
Thoracoabdominal Syndrome
Ectopia cordis, Anencephaly, Congenital diaphragmatic hernia, Cystic hygroma, Patent ductus arter... OMIM:313850
Amish Lethal Microcephaly
Spina bifida, Limb hypertonia, Lissencephaly ORPHA:99742
Pagod Syndrome
Meningocele, Abnormality of neuronal migration, Abnormal aortic morphology, Short stature, Situs ... ORPHA:991
Acropectorovertebral Dysplasia
Spina bifida, Camptodactyly of finger ORPHA:957
Chédiak-Higashi Syndrome
Edema, Cerebellar atrophy, Pleural effusion, Pericardial effusion ORPHA:167
Hydrocephaly-Low Insertion Umbilicus Syndrome
Communicating hydrocephalus, Tetralogy of Fallot, Patent ductus arteriosus, Anomalous pulmonary v... ORPHA:2184
Diamond-Blackfan Anemia 10
Ventricular septal defect, Growth delay, Short stature, Congenital diaphragmatic hernia, Patent d... OMIM:613309
Male Pseudohermaphroditism/Mental Retardation Syndrome, Verloes Type
Growth delay, Postnatal growth retardation, Cervical spina bifida, Low posterior hairline, Short ... OMIM:600122
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1
Short stature, Mitral stenosis, Hypoplastic left heart, Atrial septal defect, Aortic valve stenos... OMIM:617660
Sweet Syndrome
Increased circulating interleukin 6, Elevated circulating C-reactive protein concentration, Abnor... ORPHA:3243
Aorta Coarctation
Bicuspid aortic valve, Coarctation of the descending aortic arch, Perimembranous ventricular sept... ORPHA:1457
Isotretinoin-Like Syndrome
Abnormal cardiac ventricle morphology, Bicuspid aortic valve, Conotruncal defect, Abnormal aortic... ORPHA:2306
Gitelman Syndrome
Prominent U wave, Syncope, Abnormal T-wave, Prolonged QT interval, Pericardial effusion, Palpitat... ORPHA:358
Microphthalmia, Syndromic 9
Ventricular septal defect, Hypoplastic left atrium, Truncus arteriosus, Intrauterine growth retar... OMIM:601186
Caudal Duplication
Spina bifida, Myelomeningocele ORPHA:1756
8Q24.3 Microdeletion Syndrome
Branchial cyst, Complete atrioventricular canal defect, Ventricular septal defect, Truncus arteri... ORPHA:508488
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature
Ventricular septal defect, Peripheral arterial stenosis, Patent ductus arteriosus OMIM:126320
Blepharocheilodontic Syndrome 1
Neural tube defect OMIM:119580
Neu-Laxova Syndrome 1
Short umbilical cord, Dandy-Walker malformation, Ventricular septal defect, Hydranencephaly, Stil... OMIM:256520
Tsh-Secreting Pituitary Adenoma
Hypertension, Pericardial effusion, Ventricular arrhythmia, Palpitations, Congestive heart failur... ORPHA:91347
Heart Defect-Tongue Hamartoma-Polysyndactyly Syndrome
Patent ductus arteriosus, Subvalvular aortic stenosis ORPHA:1338
Lymphangioleiomyomatosis
Lymphedema, Chylopericardium, Ascites, Hydrocephalus, Chylothorax ORPHA:538
Noonan Syndrome 3
Hypertrophic cardiomyopathy, Ventricular septal defect, Mitral valve prolapse, Short stature, Web... OMIM:609942
Aregenerative Anemia
Abnormality of interleukin secretion ORPHA:101096
Mosaic Trisomy 16
Ventricular septal defect, Intrauterine growth retardation, Abnormal heart morphology, Coarctatio... ORPHA:1708
Heart Defects, Congenital, And Other Congenital Anomalies
Interrupted aortic arch, Ventricular septal defect, Truncus arteriosus, Intrauterine growth retar... OMIM:600001
Scimitar Syndrome
Dextrocardia, Ventricular septal defect, Truncus arteriosus, Tricuspid atresia, Abnormal hemidiap... ORPHA:185
Neu-Laxova Syndrome
Abnormality of neuronal migration, Abnormal cortical gyration, Aplasia/Hypoplasia involving the s... ORPHA:2671
Meacham Syndrome
Dextrocardia, Bicuspid aortic valve, Ventricular septal defect, Neonatal death, Coarctation of ao... OMIM:608978
Craniorachischisis
Sirenomelia, Myelomeningocele, Anencephaly, Congenital diaphragmatic hernia, Cervical spina bifid... ORPHA:63260
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism
Mitral valve prolapse, Umbilical hernia, Patent ductus arteriosus, Hydrocephalus OMIM:104350
Zimmermann-Laband Syndrome 1
Aortic root aneurysm, Cardiomyopathy, Delayed eruption of teeth, Patent ductus arteriosus, Aortic... OMIM:135500
Focal Dermal Hypoplasia
Ventricular septal defect, Congenital diaphragmatic hernia, Patent ductus arteriosus, Diastasis r... ORPHA:2092
Trisomy 18
Ventricular septal defect, Intrauterine growth retardation, Growth delay, Short stature, Anenceph... ORPHA:3380
Cardiac-Urogenital Syndrome
Dextrocardia, Patent urachus, Ventricular septal defect, Dysplastic tricuspid valve, Patent ductu... OMIM:618280
Iniencephaly
Myelomeningocele, Anencephaly, Holoprosencephaly, Congenital diaphragmatic hernia, Rhizomelia, Cy... ORPHA:63259
Right Pulmonary Artery, Anomalous Origin Of, Familial
Ventricular septal defect, Coarctation of aorta, Patent ductus arteriosus, Anomalous origin of ri... OMIM:610338
Ebstein Malformation Of The Tricuspid Valve
Abnormal endocardium morphology, Patent ductus arteriosus, Ebstein anomaly of the tricuspid valve... ORPHA:1880
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum
Atrioventricular canal defect, Torticollis, Coarctation of aorta, Patent ductus arteriosus, Spina... OMIM:619480
Fountain Syndrome
Spina bifida, Short stature, Spina bifida occulta ORPHA:3219
Anophthalmia Plus Syndrome
Spina bifida ORPHA:1104
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Ventricular septal defect, Abnormal aortic arch morphology, Abnormal descending aorta morphology,... ORPHA:99050
Truncus Arteriosus
Interrupted aortic arch, Ventricular septal defect, Truncus arteriosus, Intrauterine growth retar... ORPHA:3384
Congenital Alveolar Capillary Dysplasia
Bicuspid aortic valve, Ventricular septal defect, Atrioventricular canal defect, Patent ductus ar... ORPHA:210122
Thrombocytopenia-Absent Radius Syndrome
Ventricular septal defect, Shoulder muscle hypoplasia, Coarctation of aorta, Spina bifida, Atrial... OMIM:274000
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Interrupted aortic arch, Ventricular septal defect, Intrauterine growth retardation, Hypoplasia o... ORPHA:2255
Limb Body Wall Complex
Short umbilical cord, Ventricular septal defect, Ectopia cordis, Myelomeningocele, Anencephaly, A... ORPHA:2369
Branchiooculofacial Syndrome
Intrauterine growth retardation, Facial palsy, Branchial anomaly, Postnatal growth retardation, L... OMIM:113620
Paternal Uniparental Disomy Of Chromosome 6
Ventricular septal defect, Intrauterine growth retardation, Macroglossia, Cardiomegaly, Patent du... ORPHA:96191
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Bicuspid aortic valve, Ventricular septal defect, Truncus arteriosus, Short stature, Atrioventric... ORPHA:508498
Pelvis-Shoulder Dysplasia
Hydranencephaly, Short stature, Neonatal short-trunk short stature, Mesomelic/rhizomelic limb sho... ORPHA:2839
Jacobsen Syndrome
Ventricular septal defect, Intrauterine growth retardation, Growth delay, Short stature, Webbed n... ORPHA:2308
Sarcoidosis, Susceptibility To, 1
Pleural effusion, Pericardial effusion OMIM:181000
Waardenburg Syndrome Type 1
Meningocele, Spina bifida ORPHA:894
Meacham Syndrome
Ventricular septal defect, Conotruncal defect, Situs inversus totalis, Congenital diaphragmatic h... ORPHA:3097
Fibular Hemimelia
Abnormal heart morphology, Spina bifida ORPHA:93323
Fanconi Anemia
Hypertrophic cardiomyopathy, Abnormal aortic morphology, Intrauterine growth retardation, Growth ... ORPHA:84
Laubry-Pezzi Syndrome
Bicuspid aortic valve, Ventricular septal defect, Ascending tubular aorta aneurysm, Dilatation of... ORPHA:99094
Heterotaxy, Visceral, 1, X-Linked
Dextrocardia, Ventricular septal defect, Mitral atresia, Double outlet right ventricle, Single ve... OMIM:306955
Vater/Vacterl Association
Patent urachus, Ventricular septal defect, Intrauterine growth retardation, Patent ductus arterio... OMIM:192350
Psoriasis-Related Juvenile Idiopathic Arthritis
Abnormality of tumor necrosis factor secretion ORPHA:85436
22Q11.2 Deletion Syndrome
Meningocele, Ventricular septal defect, Abnormal aortic arch morphology, Tricuspid atresia, Trunc... ORPHA:567
Congenitally Corrected Transposition Of The Great Arteries
Single ventricle, Double outlet left ventricle, Patent ductus arteriosus, Abnormal left ventricul... ORPHA:216694
Heterotaxy, Visceral, 5, Autosomal
Dextrocardia, Ventricular septal defect, Ascending tubular aorta aneurysm, Intrauterine growth re... OMIM:270100
Trisomy 20P
Spina bifida, Camptodactyly of finger, Low posterior hairline, Short neck, Umbilical hernia ORPHA:261318
Homozygous Familial Hypercholesterolemia
Cerebral artery atherosclerosis, Myocardial steatosis, Abnormal tendon morphology, Premature coro... ORPHA:391665
Sirenomelia
Spina bifida, Sirenomelia ORPHA:3169
Posterior Meningocele
Meningocele, Occipital meningocele, Hydromyelia, Chiari malformation, Neural tube defect, Limitat... ORPHA:268810
Basal Cell Nevus Syndrome
Cardiac rhabdomyoma, Spina bifida, Cardiac fibroma, Hydrocephalus OMIM:109400
Nail-Patella Syndrome
Short stature, Quadriceps aplasia, Spina bifida, Absence of pectoralis minor muscle, Biceps aplas... OMIM:161200
Aortic Arch Interruption
Bicuspid aortic valve, Ventricular septal defect, Truncus arteriosus, Abnormal heart morphology, ... ORPHA:2299
Koolen-De Vries Syndrome Due To A Point Mutation
Bicuspid aortic valve, Ventricular septal defect, Abnormal heart morphology, Cardiomyopathy, Pulm... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Bicuspid aortic valve, Ventricular septal defect, Abnormal heart morphology, Cardiomyopathy, Pulm... ORPHA:363958
Vacterl With Hydrocephalus
Arrhinencephaly, Intrauterine growth retardation, Spina bifida, Hydrocephalus, Aqueductal stenosis ORPHA:3412
Semilobar Holoprosencephaly
Growth delay, Short stature, Neural tube defect, Abnormal heart morphology, Hydrocephalus, Flexio... ORPHA:220386
Alobar Holoprosencephaly
Growth delay, Short stature, Neural tube defect, Abnormal heart morphology, Hydrocephalus, Flexio... ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Growth delay, Short stature, Neural tube defect, Abnormal heart morphology, Hydrocephalus, Flexio... ORPHA:93926
Lobar Holoprosencephaly
Growth delay, Short stature, Neural tube defect, Abnormal heart morphology, Hydrocephalus, Flexio... ORPHA:93924
Neurofibromatosis, Type I
Short stature, Rhabdomyosarcoma, Spina bifida, Hydrocephalus, Renal artery stenosis, Aqueductal s... OMIM:162200
Pmm2-Cdg
Hypertrophic cardiomyopathy, Dandy-Walker malformation, Pericarditis, Pericardial effusion, Anasa... ORPHA:79318
Lumbar Syndrome
Spina bifida, Myelomeningocele ORPHA:83628
Schinzel-Giedion Syndrome
Neural tube defect, Macroglossia, Abnormal heart morphology, Delayed eruption of teeth, Chiari ty... ORPHA:798
Aicardi Syndrome
Pachygyria, Postnatal growth retardation, Spina bifida, Polymicrogyria, Gray matter heterotopia OMIM:304050
Waardenburg Syndrome, Type 1
Spina bifida, Myelomeningocele OMIM:193500
Infection-Related Hemolytic Uremic Syndrome
Abnormality of chemokine secretion, Increased circulating interleukin 6, Abnormality of interfero... ORPHA:544482
Parenteral Nutrition-Associated Cholestasis
Abnormality of cytokine secretion ORPHA:567983
Hallermann-Streiff Syndrome
Natal tooth, Spina bifida, Proportionate short stature OMIM:234100
Visceral Steatosis, Congenital
Neonatal death, Myocardial steatosis OMIM:228100
Cloacal Exstrophy
Spina bifida, Myelomeningocele ORPHA:93929
Congenital Total Pulmonary Venous Return Anomaly
Dextrocardia, Ventricular septal defect, Mixed total anomalous pulmonary venous connection, Mitra... ORPHA:99125
Exstrophy-Epispadias Complex
Abnormal heart morphology, Spina bifida, Hydrocephalus ORPHA:322
Split Cord Malformation
Meningocele, Hydromyelia, Chiari malformation, Myelomeningocele, Hydrocephalus, Cervical spina bi... ORPHA:573278

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 Hif1a

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 Hif1a.

No publications found that use IMPC mice or data for Hif1a.

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MGI Allele Allele Type Produced
Hif1atm1(NCOM)Mfgc Reporter-tagged deletion allele (with selection cassette) Targeting vectors, ES Cells

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