banner
Genes Phenotypes Help, News, Blog

Gene: Hif1a MGI:106918

Log in to follow
Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
hypoxia inducible factor 1, alpha subunit
Synonyms:
HIF-1alpha,  bHLHe78,  HIF1alpha,  MOP1

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 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
Lymphatic Malformation 8
Nonimmune hydrops fetalis, Polyhydramnios, Pericardial effusion, Stillbirth, Pleural effusion, Ge... OMIM:618773
Lambert Syndrome
Intrauterine growth retardation, Branchial anomaly, Ventricular septal defect ORPHA:1296
Cardiomyopathy, Dilated, 1A
Atrial flutter, Atrial fibrillation, Sudden cardiac death, First degree atrioventricular block, P... OMIM:115200
Congenital Heart Block
First degree atrioventricular block, Gallop rhythm, Pericardial effusion, Congestive heart failur... ORPHA:60041
Cardiomyopathy, Dilated, 1R
Myofiber disarray, Dilated cardiomyopathy, Cardiomyocyte hypertrophy, Left ventricular noncompact... OMIM:613424
Nephrosialidosis
Pericardial effusion, Ascites, Bone-marrow foam cells OMIM:256150
Choanal Atresia And Lymphedema
Pericardial effusion, Lymphedema OMIM:613611
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Sinoatrial block, Atrial flutter, Atrial fibrillation, Sudden cardiac death, Cardiac conduction a... ORPHA:300751
Cardiomyopathy, Familial Hypertrophic, 4
First degree atrioventricular block, Cardiomegaly, Atrioventricular block, Left bundle branch blo... OMIM:115197
Left Ventricular Noncompaction 7
Left ventricular noncompaction, Left ventricular noncompaction cardiomyopathy OMIM:615092
Left Ventricular Noncompaction 1
Noncompaction cardiomyopathy, Ventricular septal defect, Left ventricular noncompaction cardiomyo... OMIM:604169
Primary Effusion Lymphoma
Pericardial effusion, Pleural effusion ORPHA:48686
Hydrops Fetalis
Nonimmune hydrops fetalis, Polyhydramnios, Lymphedema, Pericardial effusion, Abnormal heart morph... ORPHA:1041
Congenital Pulmonary Lymphangiectasia
Tricuspid regurgitation, Congestive heart failure, Hydrops fetalis, Chylopericardium, Pulmonic st... ORPHA:2414
Cantu Syndrome
Bicuspid aortic valve, Cardiomegaly, Short neck, Pericardial effusion, Patent ductus arteriosus, ... OMIM:239850
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Neural tube defect, Type II lissencephaly OMIM:615041
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Myofiber disarray, Dilated cardiomyopathy, Cardiomyocyte hypertrophy, Left ventricular noncompact... OMIM:612158
Verheij Syndrome
Branchial cyst, Ventricular septal defect, Short stature, Short neck, Growth delay, Intrauterine ... OMIM:615583
X-Linked Mandibulofacial Dysostosis
Short stature, Branchial anomaly, Pulmonic stenosis, Webbed neck, Abnormal mitral valve morpholog... ORPHA:1131
Cardiomyopathy, Dilated, 1Gg
Dilated cardiomyopathy, Left ventricular noncompaction OMIM:613642
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Left ventricular noncompaction, Dilated cardiomyopathy, Endocardial fibrosis, Left ventricular hy... OMIM:601493
Cayler Cardiofacial Syndrome
Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal defect OMIM:125520
Meckel Syndrome, Type 8
Encephalocele, Occipital encephalocele, Pericardial effusion, Short neck OMIM:613885
Lymphatic Malformation 7
Nonimmune hydrops fetalis, Edema, Lymphedema, Facial edema, Pericardial effusion, Increased nucha... OMIM:617300
Combined Oxidative Phosphorylation Deficiency 10
Cardiomegaly, Pericardial effusion, Pleural effusion, Bradycardia, Hypertrophic cardiomyopathy, A... OMIM:614702
Left Ventricular Noncompaction 10
Dilated cardiomyopathy, Left ventricular noncompaction OMIM:615396
Congenital Disorder Of Glycosylation, Type Il
Cerebellar atrophy, Edema, Short neck, Pericardial effusion, Abnormal cardiac septum morphology, ... OMIM:608776
Mesoaxial Hexadactyly And Cardiac Malformation
Torticollis, Ventricular septal defect, Short stature, Patent ductus arteriosus, Pulmonic stenosi... OMIM:249670
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
Short stature, Ragged-red muscle fibers, Dilated cardiomyopathy, Flexion contracture, Left ventri... OMIM:252011
Vulvovaginal Gingival Syndrome
Abnormality of tumor necrosis factor secretion ORPHA:83453
Adams-Oliver Syndrome 4
Atrial septal defect, Umbilical hernia, Patent ductus arteriosus, Ventricular septal defect OMIM:615297
Mitochondrial Complex Iv Deficiency, Nuclear Type 13
Patent ductus arteriosus, Hypertrophic cardiomyopathy, Left ventricular noncompaction OMIM:616501
Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties
Cerebellar vermis hypoplasia, Polyhydramnios, Pericardial effusion, Multiple muscular ventricular... OMIM:620070
Left Ventricular Noncompaction 8
Dilated cardiomyopathy, Left ventricular noncompaction OMIM:615373
Pulmonary Atresia-Intact Ventricular Septum Syndrome
Pulmonary artery atresia, Patent ductus arteriosus, Abnormal tricuspid valve morphology ORPHA:1208
Glycogen Storage Disease Of Heart, Lethal Congenital
Prolonged QRS complex, Cardiomegaly, Pericardial effusion, Shortened PR interval, Cardiomyopathy,... OMIM:261740
Combined Oxidative Phosphorylation Deficiency 31
Increased variability in muscle fiber diameter, Hypertrophic cardiomyopathy, Left ventricular non... OMIM:617228
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases
Small hypothenar eminence, Spina bifida, Mitral valve prolapse, Small thenar eminence, Camptodact... OMIM:211960
Distal 7Q11.23 Microduplication Syndrome
Congenital diaphragmatic hernia, Patent ductus arteriosus, Hydrocephalus, Frontal encephalocele, ... ORPHA:261102
Combined Oxidative Phosphorylation Deficiency 20
Hypertrophic cardiomyopathy, Left ventricular noncompaction OMIM:615917
Craniofaciofrontodigital Syndrome
Bicuspid aortic valve, Ventricular septal defect, Abnormal heart valve morphology, Cardiomegaly, ... ORPHA:363705
X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome
Branchial cyst, Ankle flexion contracture, Pulmonary artery stenosis, Knee flexion contracture, S... ORPHA:435938
Acute Lung Injury
Increased circulating interleukin 6 concentration, Elevated circulating C-reactive protein concen... ORPHA:178320
Hypertelorism And Other Facial Dysmorphism, Brachydactyly, Genital Abnormalities, Mental Retardation, And Recurrent Inflammatory Episodes
Pericardial effusion OMIM:614684
Alkuraya-Kucinskas Syndrome
Edema, Pericardial effusion, Hydrocephalus, Webbed neck, Cerebellar hypoplasia, Camptodactyly, Ar... OMIM:617822
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Bicuspid aortic valve, Ventricular septal defect, Increased nuchal translucency, Abnormal heart m... ORPHA:453499
Branchiogenic-Deafness Syndrome
Branchial cyst, Branchial fistula, Short stature OMIM:609166
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Ventricular septal defect, Hypoplastic left heart, Anencephaly, Spina bifida ORPHA:2476
Congenital Tricuspid Valve Dysplasia
Tricuspid regurgitation, Cardiomegaly, Pericardial effusion, Anomalous pulmonary venous return, A... ORPHA:555874
Neuronal Intestinal Pseudoobstruction
Natal tooth, Patent ductus arteriosus, Abnormal cardiac septum morphology, Congenital diaphragmat... ORPHA:99811
Megabladder, Congenital
Ventricular septal defect, Bicuspid aortic valve, Left ventricular noncompaction cardiomyopathy, ... OMIM:618719
Neurodegeneration, Childhood-Onset, With Multisystem Involvement Due To Mitochondrial Dysfunction
Cerebellar atrophy, Skeletal muscle atrophy, Cerebellar vermis hypoplasia, Pericardial effusion, ... OMIM:620089
Adult Acute Respiratory Distress Syndrome
Abnormal circulating interleukin concentration, Increased circulating interleukin 6 concentration... ORPHA:70578
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Bicuspid aortic valve, Congenital diaphragmatic hernia, Spina bifida, Patent ductus arteriosus, A... ORPHA:1120
Pulmonary Capillary Hemangiomatosis
Right ventricular failure, Pericardial effusion, Diffuse alveolar hemorrhage, Hemothorax, Pedal e... ORPHA:199241
Thoraco-Abdominal Enteric Duplication
Camptodactyly of finger, Meningocele, Abnormal tricuspid valve morphology, Dextrocardia ORPHA:1759
Isolated Klippel-Feil Syndrome
Congenital muscular torticollis, Ventricular septal defect, Spina bifida, Short neck, Low posteri... ORPHA:2345
Spina Bifida-Hypospadias Syndrome
Spina bifida, Spinal dysraphism ORPHA:3176
Aminopterin/Methotrexate Embryofetopathy
Encephalocele, Ventricular septal defect, Short stature, Situs inversus totalis, Hydrocephalus, M... ORPHA:1908
Macrophage Activation Syndrome
Increased circulating interleukin 6 concentration, Elevated circulating C-reactive protein concen... ORPHA:158061
Branchiootic Syndrome 3
Branchial cyst OMIM:608389
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Delayed eruption of teeth, Pericardial lymphangiectasia, Ventricular septal defect, Nonimmune hyd... OMIM:235510
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Nonimmune hydrops fetalis, Pericardial effusion, Endocardial fibroelastosis, Restrictive cardiomy... OMIM:619313
Hypocomplementemic Urticarial Vasculitis
Abnormal heart valve morphology, Pericardial effusion, Angioedema, Pleural effusion, Ascites ORPHA:36412
Congenital Enterovirus Infection
Fetal ascites, Polyhydramnios, Pericardial effusion, Myocarditis, Hydrops fetalis, Cardiomyopathy... ORPHA:292
Pulmonary Non-Tuberculous Mycobacterial Infection
Pericardial effusion, Pleural effusion ORPHA:411703
Drug-Induced Lupus Erythematosus
Pericardial effusion, Pericarditis, Prolonged QTc interval ORPHA:231111
Cardiac-Urogenital Syndrome
Cor triatrium sinister, Ventricular septal defect, Dextrocardia, Congenital diaphragmatic hernia,... OMIM:618280
Branchiootic Syndrome 1
Branchial fistula OMIM:602588
Distal 22Q11.2 Microdeletion Syndrome
Branchial fistula, Ventricular septal defect, Camptodactyly of finger, Short stature, Growth dela... ORPHA:261330
Atrial Standstill
Skeletal muscle atrophy, Flexion contracture, Abnormal heart morphology, Cardiomyopathy, Left ven... ORPHA:1344
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Prolonged QT interval, Tachycardia, Ventricular septal defect, Pericardial effusion, Dilated card... ORPHA:26793
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Neonatal death, Patent ductus arteriosus, Abnormal cardiac septum morphology, Coarctation of aorta OMIM:601612
Branchiogenic Deafness Syndrome
Branchial cyst, Branchial fistula, Short stature ORPHA:50815
Atrial Septal Defect 2
Ventricular septal defect, Dextrocardia, Patent ductus arteriosus, Pulmonic stenosis, Atrial sept... OMIM:607941
Congenital Disorder Of Glycosylation, Type Ia
Cerebellar atrophy, Dilated fourth ventricle, Pericarditis, Cerebellar vermis hypoplasia, Nonimmu... OMIM:212065
Holoprosencephaly
Encephalocele, Ventricular septal defect, Abnormal pulmonary valve morphology, Congenital diaphra... ORPHA:2162
Meckel Syndrome, Type 4
Encephalocele, Ventricular septal defect, Hydrocephalus, Meningocele, Anencephaly, Atrial septal ... OMIM:611134
Acalvaria
Hydrocephalus, Holoprosencephaly, Spina bifida, Abnormality of neuronal migration ORPHA:945
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Persistent fetal circulation, Ventricular septal defect, Pericardial effusion, Bradycardia, Hyper... OMIM:618775
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Ventricular septal defect, Short neck, Hydrocephalus, Patent ductus arteriosus, Lissencephaly, Um... OMIM:612938
Distal 22Q11.2 Microduplication Syndrome
Branchial fistula, Ventricular septal defect, Camptodactyly of finger, Hydrocephalus, Patent duct... ORPHA:261337
Branchiootic Syndrome
Branchial fistula, Facial palsy ORPHA:52429
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Bicuspid aortic valve, Ventricular septal defect, Increased nuchal translucency, Type 1 muscle fi... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Bicuspid aortic valve, Ventricular septal defect, Increased nuchal translucency, Type 1 muscle fi... ORPHA:352665
Subependymal Nodular Heterotopia
Occipital encephalocele, Myelomeningocele, Meningocele, Abnormality of neuronal migration, Gray m... ORPHA:101030
Ophthalmoplegia, External, And Myopia
Spina bifida OMIM:311000
Aymé-Gripp Syndrome
Pericarditis, Congenital diaphragmatic hernia, Pericardial effusion, Patent ductus arteriosus, Hy... ORPHA:1272
Frontal Encephalocele
Encephalocele, Hydrocephalus, Spina bifida ORPHA:1931
Acute Interstitial Pneumonia
Pericardial effusion, Hypertension, Pleural effusion, Peripheral edema ORPHA:79126
Oligomeganephronia
Branchial cyst, Secundum atrial septal defect, Congenital diaphragmatic hernia ORPHA:2260
Pediatric Systemic Lupus Erythematosus
Myositis, Edema, Pericardial effusion, Pleural effusion, Ascites ORPHA:93552
Lymphoproliferative Syndrome 1
Pericardial effusion, Pleural effusion OMIM:613011
Ventricular Septal Defect 3
Atrial septal defect, Pulmonary artery stenosis, Patent ductus arteriosus, Ventricular septal defect OMIM:614432
Bor Syndrome
Branchial cyst, Facial palsy ORPHA:107
Wildervanck Syndrome
Facial palsy, Short neck, Meningocele, Low posterior hairline, Webbed neck ORPHA:3456
Familial Hemophagocytic Lymphohistiocytosis
Increased circulating interleukin 6 concentration, Increased circulating ferritin concentration, ... ORPHA:540
Aicardi-Goutieres Syndrome 9
Pericarditis, Edema, Pericardial effusion, Lower limb hypertonia, Left ventricular hypertrophy, A... OMIM:619487
Cardiomyopathy, Dilated, 1D
Left ventricular hypertrophy, Dilated cardiomyopathy, Left ventricular noncompaction OMIM:601494
Primary Intestinal Lymphangiectasia
Edema, Pericardial effusion, Pleural effusion, Ascites, Generalized edema ORPHA:90362
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Dilated cardiomyopathy, Left ventricular noncompaction, Neonatal death, Left ventricular hypertro... OMIM:619167
Cardiomyopathy, Dilated, 1S
Bicuspid aortic valve, Dilated cardiomyopathy, Ebstein anomaly of the tricuspid valve, Coarctatio... OMIM:613426
Classical-Like Ehlers-Danlos Syndrome Type 2
Carotid artery stenosis, Pericardial effusion, Mitral valve prolapse, Aortic root aneurysm, Webbe... ORPHA:536532
Gaucher Disease Type 1
Pericardial effusion, Abnormal myocardium morphology, Ascites, Pedal edema ORPHA:77259
Branchiootorenal Syndrome 1
Branchial cyst, Branchial fistula, Facial palsy OMIM:113650
Hemihyperplasia, Isolated
Skeletal muscle hypertrophy, Myelomeningocele OMIM:235000
Alg3-Cdg
Hypoplasia of the pons, Coarctation of the descending aortic arch, Macroglossia, Neural tube defe... ORPHA:79321
Alg9-Cdg
Thickened nuchal skin fold, Cerebellar atrophy, Torticollis, Ventricular septal defect, Hypoplasi... ORPHA:79328
Diarrhea 10, Protein-Losing Enteropathy Type
Polyhydramnios, Pericardial effusion, Hematochezia, Anasarca, Pleural effusion, Ascites OMIM:618183
Triploidy
Short neck, Hydrocephalus, Meningocele, Macroglossia, Abnormal cardiac septum morphology, Holopro... ORPHA:3376
Cardiac, Facial, And Digital Anomalies With Developmental Delay
Thickened nuchal skin fold, Redundant neck skin, Mitral atresia, Patent ductus arteriosus, Double... OMIM:618164
Chiari Malformation Type Ii
Spina bifida, Myelomeningocele, Hydrocephalus, Cervical myelopathy, Gray matter heterotopia, Limb... OMIM:207950
Poems Syndrome
Pericardial effusion, Pleural effusion, Ascites, Edema ORPHA:2905
Myhre Syndrome
Ventricular septal defect, Short neck, Pericardial effusion, Patent ductus arteriosus, Generalize... OMIM:139210
Crimean-Congo Hemorrhagic Fever
Bundle branch block, Abnormal left ventricular function, Internal hemorrhage, Pericardial effusio... ORPHA:99827
Familial Aortic Dissection
Cardiomegaly, Descending thoracic aorta aneurysm, Patent ductus arteriosus, Descending aortic dis... ORPHA:229
8Q24.3 Microdeletion Syndrome
Branchial cyst, Infancy onset short-trunk short stature, Ventricular septal defect, Short stature... ORPHA:508488
Naxos Disease
Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Cardiomega... OMIM:601214
Cleft Lip/Palate-Intestinal Malrotation-Cardiopathy Syndrome
Patent ductus arteriosus, Abnormal aortic morphology, Hypoplastic left heart, Short neck ORPHA:2001
Kaposiform Lymphangiomatosis
Epidural hemorrhage, Epistaxis, Pericardial effusion, Subconjunctival hemorrhage, Pleural effusion ORPHA:464329
Czeizel-Losonci Syndrome
Thickened nuchal skin fold, Posterolateral diaphragmatic hernia, Dextrocardia, Spina bifida, Myel... ORPHA:2437
Car T Cell Therapy-Associated Cytokine Release Syndrome
Increased circulating interleukin 6 concentration, Abnormality of interleukin secretion, Abnormal... ORPHA:542323
Phaver Syndrome
Ventricular septal defect, Camptodactyly of finger, Myelomeningocele, Hypoplastic aortic arch, Co... ORPHA:2876
Congenitally Uncorrected Transposition Of The Great Arteries
Levotransposition of the great arteries, Ventricular septal defect, Abnormal pulmonary valve morp... ORPHA:860
Mosaic Trisomy 9
Ventricular septal defect, Dextrocardia, Spina bifida, Short neck, Abnormal heart valve morpholog... ORPHA:99776
Lateral Meningocele Syndrome
Decreased muscle mass, Bicuspid aortic valve, Ventricular septal defect, Short neck, Patent ductu... OMIM:130720
Thoracoabdominal Syndrome
Congenital diaphragmatic hernia, Hydrocephalus, Patent ductus arteriosus, Anencephaly, Transposit... OMIM:313850
Sick Sinus Syndrome 2
Left ventricular hypertrophy, Left ventricular noncompaction, Mitral valve prolapse OMIM:163800
Q Fever
Pericarditis, Abnormal heart valve morphology, Pericardial effusion, Myocarditis, Endocarditis, P... ORPHA:781
Autosomal Dominant Coarctation Of Aorta
Aortic arch aneurysm, Ventricular septal defect, Patent ductus arteriosus, Abnormal aortic arch m... ORPHA:1455
Autosomal Recessive Spondylocostal Dysostosis
Short stature, Camptodactyly of finger, Congenital diaphragmatic hernia, Short neck, Meningocele,... ORPHA:2311
Anencephaly 1
Anencephaly, Spina bifida OMIM:206500
Schisis Association
Encephalocele, Congenital diaphragmatic hernia, Anencephaly, Spina bifida ORPHA:63862
Gaucher Disease Type 3
Mitral valve calcification, Abnormal heart valve morphology, Pericardial effusion, Aortic valve c... ORPHA:77261
Treacher-Collins Syndrome
Encephalocele, Branchial fistula, Patent ductus arteriosus ORPHA:861
Muscle-Eye-Brain Disease
Hydrocephalus, Meningocele, Myopathy, Holoprosencephaly, Aplasia/Hypoplasia of the cerebellum ORPHA:588
Camptodactyly Syndrome, Guadalajara Type 1
Scapular winging, Short stature, Camptodactyly of finger, Spina bifida, Abnormality of dental eru... ORPHA:1327
Cerebrocostomandibular Syndrome
Ventricular septal defect, Short stature, Spina bifida, Myelomeningocele, Meningocele, Webbed nec... ORPHA:1393
Fixed Subaortic Stenosis
Bicuspid aortic valve, Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Abnorma... ORPHA:3092
Cardiac Diverticulum
Bicuspid aortic valve, Bicuspid pulmonary valve, Pulmonary artery hypoplasia, Atrial septal defec... ORPHA:1686
Joubert Syndrome 14
Encephalocele, Cerebellar vermis hypoplasia, Ventricular septal defect, Agenesis of cerebellar ve... OMIM:614424
Hennekam Syndrome
Delayed eruption of teeth, Camptodactyly of finger, Lymphedema, Pericardial effusion, Hydrops fet... ORPHA:2136
Long Qt Syndrome 15
Left ventricular noncompaction OMIM:616249
Meckel Syndrome, Type 2
Encephalocele, Meningocele, Anencephaly, Intrauterine growth retardation, Cystic hygroma OMIM:603194
Pagod Syndrome
Encephalocele, Short stature, Congenital diaphragmatic hernia, Spina bifida, Situs inversus total... ORPHA:991
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome
Sudden cardiac death, Pericardial effusion, Congestive heart failure, Dilated cardiomyopathy, Pul... ORPHA:73224
Heterotaxy, Visceral, 1, X-Linked
Polyhydramnios, Cardiomegaly, Aqueductal stenosis, Dextrotransposition of the great arteries, Atr... OMIM:306955
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Branchial cyst, Natal tooth, Short stature, Facial palsy, Atrial septal defect, Intrauterine grow... OMIM:620186
Nevus Comedonicus Syndrome
Spina bifida occulta, Spina bifida ORPHA:64754
Hypoplastic Left Heart Syndrome
Mitral atresia, Patent ductus arteriosus, Hypoplastic aortic arch, Hypoplastic left heart, Atrial... ORPHA:2248
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation
Branchial anomaly ORPHA:466950
Neural Tube Defects, Susceptibility To
Myelomeningocele, Spina bifida occulta, Anencephaly, Hydrocephalus OMIM:182940
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, Cardiomegaly, Patent du... OMIM:300967
Generalized Arterial Calcification Of Infancy
Ventricular hypertrophy, Medial calcification of large arteries, Coronary artery calcification, C... ORPHA:51608
Partial Atrioventricular Septal Defect
Bicuspid aortic valve, Coronary sinus enlargement, Partial atrioventricular canal defect, Common ... ORPHA:1330
Aorta Coarctation
Bicuspid aortic valve, Pseudocoarctation of the aorta, Cardiomegaly, Patent ductus arteriosus, Hy... ORPHA:1457
Spondylocostal Dysostosis 4, Autosomal Recessive
Short stature, Dextrocardia, Short neck, Situs inversus totalis, Myelomeningocele, Hydrocephalus,... OMIM:613686
Aicardi-Goutieres Syndrome 7
Cerebellar atrophy, Edema, Pericardial effusion, Limb hypertonia, Hypertrophic cardiomyopathy, Ol... OMIM:615846
Chédiak-Higashi Syndrome
Pericardial effusion, Pleural effusion, Cerebellar atrophy, Edema ORPHA:167
Sweet Syndrome
Abnormal circulating interleukin concentration, Increased circulating interleukin 6 concentration... ORPHA:3243
Acropectorovertebral Dysplasia
Camptodactyly of finger, Spina bifida ORPHA:957
Caudal Duplication
Myelomeningocele, Spina bifida ORPHA:1756
Craniofacial Microsomia 1
Occipital encephalocele, Ventricular septal defect, Hypoplasia of facial musculature, Hydrocephal... OMIM:164210
Gitelman Syndrome
Prolonged QT interval, Pericardial effusion, Raynaud phenomenon, Low-to-normal blood pressure, Sy... ORPHA:358
Fryns Microphthalmia Syndrome
Neural tube defect OMIM:600776
Lateral Meningocele Syndrome
Ventricular septal defect, Short neck, Meningocele, Low posterior hairline, Chiari malformation, ... ORPHA:2789
Humero-Radial Synostosis
Meningocele ORPHA:3265
Lymphangioleiomyomatosis
Lymphedema, Hydrocephalus, Chylopericardium, Chylothorax, Ascites ORPHA:538
Aregenerative Anemia
Abnormality of interleukin secretion ORPHA:101096
Tsh-Secreting Pituitary Adenoma
Supraventricular arrhythmia, Pericardial effusion, Congestive heart failure, Hypertension, Palpit... ORPHA:91347
Scimitar Syndrome
Ventricular septal defect, Abnormal hemidiaphragm morphology, Dextrocardia, Mitral atresia, Desce... ORPHA:185
Meacham Syndrome
Bicuspid aortic valve, Aplasia of the right hemidiaphragm, Ventricular septal defect, Dextrocardi... OMIM:608978
Craniorachischisis
Congenital diaphragmatic hernia, Cervical spina bifida, Myelomeningocele, Anencephaly, Sirenomeli... ORPHA:63260
Heart Defects, Congenital, And Other Congenital Anomalies
Double outlet left ventricle, Ventricular septal defect, Congenital diaphragmatic hernia, Patent ... OMIM:600001
Neu-Laxova Syndrome 1
Ventricular septal defect, Spina bifida, Short neck, Patent foramen ovale, Patent ductus arterios... OMIM:256520
Iniencephaly
Encephalocele, Rhizomelia, Spina bifida, Congenital diaphragmatic hernia, Myelomeningocele, Hydro... ORPHA:63259
Neu-Laxova Syndrome
Skeletal muscle atrophy, Abnormal cortical gyration, Spina bifida, Polymicrogyria, Flexion contra... ORPHA:2671
Limb Body Wall Complex
Encephalocele, Ventricular septal defect, Diastasis recti, Spina bifida, Congenital diaphragmatic... ORPHA:2369
Heterotaxy, Visceral, 12, Autosomal
Dextrotransposition of the great arteries, Pulmonary artery atresia, Atrial septal defect, Patent... OMIM:619702
Trisomy 18
Ventricular septal defect, Camptodactyly of finger, Congenital diaphragmatic hernia, Spina bifida... ORPHA:3380
Focal Dermal Hypoplasia
Ventricular septal defect, Diastasis recti, Congenital diaphragmatic hernia, Spina bifida, Campto... ORPHA:2092
Amish Lethal Microcephaly
Lissencephaly, Spina bifida, Limb hypertonia ORPHA:99742
Neurocutaneous Melanocytosis
Aplasia/Hypoplasia of the cerebellum, Meningocele, Dandy-Walker malformation, Chiari malformation ORPHA:2481
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum
Torticollis, Spina bifida, Patent ductus arteriosus, Coarctation of aorta, Unilateral facial pals... OMIM:619480
Anophthalmia Plus Syndrome
Spina bifida ORPHA:1104
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Cerebellar vermis hypoplasia, Congenital diaphragmatic hernia, Short neck, Polyhydramnios, Hydroc... OMIM:616546
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Ventricular septal defect, Patent ductus arteriosus, Abnormal aortic arch morphology, Aortopulmon... ORPHA:99050
Isolated Posterior Meningocele
Hydrocephalus, Lipomyelomeningocele, Meningocele, Limitation of neck motion, Neural tube defect, ... ORPHA:268810
Fountain Syndrome
Spina bifida occulta, Short stature, Spina bifida ORPHA:3219
Right Pulmonary Artery, Anomalous Origin Of, Familial
Ventricular septal defect, Patent ductus arteriosus, Coarctation of aorta, Patent foramen ovale, ... OMIM:610338
Pelvis-Shoulder Dysplasia
Short stature, Camptodactyly of finger, Spina bifida, Mesomelic/rhizomelic limb shortening, Hydro... ORPHA:2839
Thrombocytopenia-Absent Radius Syndrome
Edema of the dorsum of feet, Ventricular septal defect, Shoulder muscle hypoplasia, Spina bifida,... OMIM:274000
Chromosome 17P13.1 Deletion Syndrome
Spina bifida, Short neck, Hydrocephalus, Elbow flexion contracture, Knee flexion contracture, Gen... OMIM:613776
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Double outlet left ventricle, Ventricular septal defect, Congenital diaphragmatic hernia, Patent ... ORPHA:2255
Neu-Laxova Syndrome 2
Intrauterine growth retardation, Lissencephaly, Spina bifida, Short neck OMIM:616038
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Bicuspid aortic valve, Facial palsy, Spina bifida, Short neck, Truncus arteriosus, Ventricular se... ORPHA:508498
Truncus Arteriosus
Ventricular septal defect, Abnormal heart valve morphology, Anomalous origin of one pulmonary art... ORPHA:3384
Branchiooculofacial Syndrome
Facial palsy, Short neck, Postnatal growth retardation, Elbow flexion contracture, Low posterior ... OMIM:113620
Vater/Vacterl Association
Occipital encephalocele, Ventricular septal defect, Spina bifida, Postnatal growth retardation, P... OMIM:192350
Waardenburg Syndrome Type 1
Meningocele, Spina bifida ORPHA:894
Jacobsen Syndrome
Ventricular septal defect, Short stature, Spina bifida, Short neck, Coarctation of aorta, Growth ... ORPHA:2308
Orofaciodigital Syndrome Vi
Short stature, Coarctation of aorta, Hypoplastic left heart, Occipital meningocele, Periventricul... OMIM:277170
Sarcoidosis, Susceptibility To, 1
Pericardial effusion, Pleural effusion OMIM:181000
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome
Meningocele, Short stature ORPHA:2031
Congenitally Corrected Transposition Of The Great Arteries
Atrial situs ambiguous, Abnormal left ventricular outflow tract morphology, Abnormal tricuspid va... ORPHA:216694
Fanconi Anemia
Short stature, Spina bifida, Hydrocephalus, Patent ductus arteriosus, Growth delay, Abnormal card... ORPHA:84
Fibular Hemimelia
Spina bifida, Abnormal heart morphology ORPHA:93323
Heterotaxy, Visceral, 5, Autosomal
Right atrial isomerism, Ventricular septal defect, Dextrocardia, Patent ductus arteriosus, Partia... OMIM:270100
22Q11.2 Deletion Syndrome
Ventricular septal defect, Abnormal pulmonary valve morphology, Spina bifida, Short neck, Short s... ORPHA:567
Witteveen-Kolk Syndrome
Branchial fistula, Short stature, Congenital diaphragmatic hernia, Contracture of the distal inte... OMIM:613406
Psoriasis-Related Juvenile Idiopathic Arthritis
Abnormality of tumor necrosis factor secretion ORPHA:85436
Double Outlet Left Ventricle
Double outlet left ventricle, Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, ... ORPHA:3427
Laubry-Pezzi Syndrome
Aortic valve prolapse, Bicuspid aortic valve, Ventricular septal defect, Abnormal aortic valve cu... ORPHA:99094
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Occipital encephalocele, Redundant neck skin, Cerebellar vermis hypoplasia, Abnormal cerebellum m... ORPHA:397715
Nail-Patella Syndrome
Biceps aplasia, Short stature, Spina bifida, Absence of pectoralis minor muscle, Triceps aplasia,... OMIM:161200
Trisomy 20P
Camptodactyly of finger, Spina bifida, Short neck, Low posterior hairline, Umbilical hernia ORPHA:261318
Acromelic Frontonasal Dysplasia
Encephalocele, Meningocele, Retrocerebellar cyst ORPHA:1827
Sirenomelia
Spina bifida, Sirenomelia ORPHA:3169
Basal Cell Nevus Syndrome 1
Cardiac rhabdomyoma, Hydrocephalus, Cardiac fibroma, Spina bifida OMIM:109400
Cleft Lip/Palate-Deafness-Sacral Lipoma Syndrome
Meningocele ORPHA:2003
Rubinstein-Taybi Syndrome 1
Ventricular septal defect, Short stature, Spina bifida, Postnatal growth retardation, Patent duct... OMIM:180849
Koolen-De Vries Syndrome Due To A Point Mutation
Hand muscle atrophy, Bicuspid aortic valve, Ventricular septal defect, Spina bifida, Hydrocephalu... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Hand muscle atrophy, Bicuspid aortic valve, Ventricular septal defect, Spina bifida, Hydrocephalu... ORPHA:363958
Marfan Syndrome
Skeletal muscle atrophy, Mitral valve calcification, Descending aortic dissection, Meningocele, M... ORPHA:558
Sacral Defect With Anterior Meningocele
Myeloschisis, Myelomeningocele, Meningocele, Hydrocephalus, Dermal sinus tract OMIM:600145
Phakomatosis Pigmentokeratotica
Rhabdomyosarcoma, Spina bifida, Lymphedema ORPHA:2874
Homozygous Familial Hypercholesterolemia
Precocious atherosclerosis, Tendon xanthomatosis, Peripheral arterial stenosis, Calcification of ... ORPHA:391665
Knobloch Syndrome 1
Occipital encephalocele, Patent ductus arteriosus, Occipital meningocele, Spina bifida occulta, P... OMIM:267750
Vacterl With Hydrocephalus
Aqueductal stenosis, Intrauterine growth retardation, Hydrocephalus, Spina bifida ORPHA:3412
Lathosterolosis
Intrauterine growth retardation, Meningocele ORPHA:46059
Curry-Jones Syndrome
Occipital meningocele, Lipomyelomeningocele, Polymicrogyria OMIM:601707
Neurofibromatosis, Type I
Short stature, Rhabdomyosarcoma, Spina bifida, Aqueductal stenosis, Hydrocephalus, Renal artery s... OMIM:162200
Campomelic Dysplasia
Spina bifida, Contracture of the distal interphalangeal joint of the fingers, Hydrocephalus, Abno... OMIM:114290
Phocomelia, Schinzel Type
Intrauterine growth retardation, Disproportionate short stature, Meningocele, Short neck ORPHA:2879
Pmm2-Cdg
Pericarditis, Multiple joint contractures, Cerebellar vermis hypoplasia, Lymphedema, Pericardial ... ORPHA:79318
Lumbar Syndrome
Myelomeningocele, Spina bifida ORPHA:83628
Hallermann-Streiff Syndrome
Natal tooth, Proportionate short stature, Spina bifida OMIM:234100
Infection-Related Hemolytic Uremic Syndrome
Increased circulating interleukin 6 concentration, Abnormality of chemokine secretion, Abnormalit... ORPHA:544482
Parenteral Nutrition-Associated Cholestasis
Abnormality of cytokine secretion ORPHA:567983
Aicardi Syndrome
Spina bifida, Postnatal growth retardation, Gray matter heterotopia, Pachygyria, Polymicrogyria OMIM:304050
Waardenburg Syndrome, Type 1
Myelomeningocele, Spina bifida OMIM:193500
Otopalatodigital Syndrome, Type Ii
Short stature, Elbow contracture, Spina bifida, Short neck, Postnatal growth retardation, Hydroce... OMIM:304120
Semilobar Holoprosencephaly
Short stature, Hydrocephalus, Flexion contracture, Abnormal heart morphology, Growth delay, Neura... ORPHA:220386
Alobar Holoprosencephaly
Short stature, Hydrocephalus, Flexion contracture, Abnormal heart morphology, Growth delay, Neura... ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Short stature, Hydrocephalus, Flexion contracture, Abnormal heart morphology, Growth delay, Neura... ORPHA:93926
Lobar Holoprosencephaly
Short stature, Hydrocephalus, Flexion contracture, Abnormal heart morphology, Growth delay, Neura... ORPHA:93924
Split Cord Malformation
Cervical spina bifida, Myelomeningocele, Lipomyelomeningocele, Meningocele, Hydrocephalus, Chiari... ORPHA:573278
Cloacal Exstrophy
Myelomeningocele, Spina bifida ORPHA:93929
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia
Flexion contracture of finger, Meningocele ORPHA:1010
Exstrophy-Epispadias Complex
Hydrocephalus, Spina bifida, Abnormal heart morphology ORPHA:322
Arima Syndrome
Gray matter heterotopia, Occipital meningocele, Growth delay OMIM:243910
Holoprosencephaly 7
Alobar holoprosencephaly, Hydrocephalus, Lobar holoprosencephaly, Holoprosencephaly, Occipital me... OMIM:610828
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Short neck, Disproportionate short stature, Elbow flexion contracture, Occipital meningocele, Bro... OMIM:276820

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.

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

The IMPC Newsletter

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

Subscribe to newsletter