Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
polymerase (DNA-directed), delta interacting protein 2
Synonyms:
mitogenin 1,  1300003F06Rik

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 Poldip2 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 Poldip2 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Moyamoya Disease 1
Telangiectasia, Inflammatory arteriopathy, Carotid artery occlusion OMIM:252350
Fibromuscular Dysplasia, Arterial
Myocardial infarction, Aortic dissection, Renovascular hypertension, Intermittent claudication, A... OMIM:135580
Aorto-Ventricular Tunnel
Congestive heart failure, Aortic root aneurysm, Abnormal coronary artery morphology, Heart murmur... ORPHA:3400
Telangiectasia, Hereditary Benign
Vascular dilatation, Diffuse telangiectasia OMIM:187260
Aortic Aneurysm, Familial Thoracic 4
Posterior cerebral artery stenosis, Aortic regurgitation, Thoracic aortic aneurysm, Patent ductus... OMIM:132900
Familial Aortic Dissection
Mucoid extracellular matrix accumulation, Aortic regurgitation, Patent ductus arteriosus, Aortic ... ORPHA:229
Hypoplastic Left Heart Syndrome 1
Aortic valve stenosis, Coarctation of aorta OMIM:241550
Aortic Aneurysm, Familial Thoracic 7
Descending aortic dissection, Aortic aneurysm, Ascending aortic dissection, Aortic rupture OMIM:613780
Aortic Aneurysm, Familial Thoracic 8
Abdominal aortic aneurysm, Descending aortic dissection, Coronary artery aneurysm, Ascending aort... OMIM:615436
Distal Trisomy 14Q
Abnormal aortic morphology, Patent ductus arteriosus ORPHA:1705
Aortic Aneurysm, Familial Thoracic 6
Moyamoya phenomenon, Thoracic aortic aneurysm, Descending aortic dissection, Aortic aneurysm, Asc... OMIM:611788
Congenital Heart Defects, Multiple Types, 4
Tetralogy of Fallot, Aortic valve stenosis, Coarctation of aorta OMIM:615779
Coarctation Of Aorta
Coarctation of aorta OMIM:120000
Phosphoribosylpyrophosphate Synthetase Superactivity
Abnormal aortic morphology, Cardiomyopathy, Hypertension, Arrhythmia ORPHA:3222
Familial Cerebral Saccular Aneurysm
Aortic root aneurysm, Abnormal circle of Willis morphology, Subarachnoid hemorrhage, Aortic disse... ORPHA:231160
Telangiectasia, Hereditary Hemorrhagic, Type 5
Telangiectasia, Portal hypertension, Elevated hepatic transaminase, Spontaneous, recurrent epistaxis OMIM:615506
Pulmonary Hypertension, Primary, 1
Elevated right atrial pressure, Increased pulmonary vascular resistance, Arterial intimal fibrosi... OMIM:178600
Aortic Aneurysm, Familial Thoracic 11, Susceptibility To
Descending aortic dissection, Aortic aneurysm, Ascending aortic dissection OMIM:617349
Congenital Heart Defects, Multiple Types, 7
Tetralogy of Fallot, Pulmonic stenosis, Right aortic arch, Pulmonary artery atresia, Double aorti... OMIM:618780
Long Qt Syndrome 13
Paroxysmal atrial fibrillation, Cardiac arrest, Congestive heart failure, Pulmonary embolism, Cor... OMIM:613485
Aortic Aneurysm, Familial Thoracic 9
Atrial fibrillation, Aortic tortuosity, Ascending aortic dissection, Thoracic aortic aneurysm OMIM:616166
Congenital Heart Defects, Multiple Types, 6
Tetralogy of Fallot, Total anomalous pulmonary venous return, Left ventricular outflow tract obst... OMIM:613854
Capillary Malformation-Arteriovenous Malformation 2
Telangiectasia OMIM:618196
Congenitally Uncorrected Transposition Of The Great Arteries
Abnormal aortic arch morphology, Patent ductus arteriosus, Congestive heart failure, Dextrotransp... ORPHA:860
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Anomalous origin of right pulmonary artery from ascending aorta, Tetralogy of Fallot, Abnormal ao... ORPHA:99050
Atrial Septal Defect 4
Coarctation of aorta OMIM:611363
Tricuspid Atresia
Persistent left superior vena cava, Pulmonary artery atresia, Coarctation of aorta, Transposition... ORPHA:1209
Hypermethioninemia Due To Adenosine Kinase Deficiency
Decreased liver function, Elevated hepatic transaminase, Coarctation of aorta, Pulmonic stenosis OMIM:614300
Congenital Heart Defects, Multiple Types, 2
Tetralogy of Fallot, Aortic regurgitation, Aortic aneurysm, Atrial fibrillation, Left ventricular... OMIM:614980
Multisystemic Smooth Muscle Dysfunction Syndrome
Thoracic aortic aneurysm, Patent ductus arteriosus, Hyperperistalsis, Pulmonary arterial hyperten... OMIM:613834
Partial Atrioventricular Septal Defect
Tetralogy of Fallot, Atrial flutter, Patent ductus arteriosus, Atrial arrhythmia, Coarctation of ... ORPHA:1330
Fixed Subaortic Stenosis
Paroxysmal atrial fibrillation, Mitral regurgitation, Patent ductus arteriosus, Aortic regurgitat... ORPHA:3092
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Coarctation of aorta, Transposition of the great arteries, Patent ductus arteriosus, Truncus arte... OMIM:612474
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Hypovolemia, Mucoid extracellular matrix accumulation, Abdominal aortic aneurysm, Aortic regurgit... ORPHA:91387
Transaldolase Deficiency
Telangiectasia, Coarctation of aorta ORPHA:101028
Aortic Valve Disease 2
Calcification of the aorta, Aortic aneurysm, Coarctation of aorta OMIM:614823
Familial Bicuspid Aortic Valve
Aortic arch aneurysm, Aortic regurgitation, Thoracic aorta calcification, Coarctation of aorta, H... ORPHA:402075
Cardiomyopathy, Dilated, 1S
Dilated cardiomyopathy, Ventricular tachycardia, Pulmonary artery hypoplasia, Congestive heart fa... OMIM:613426
Conotruncal Heart Malformations
Double outlet right ventricle, Transposition of the great arteries, Coarctation of aorta, Truncus... OMIM:217095
Aortic Arch Interruption, Facial Palsy, And Retinal Coloboma
Interrupted aortic arch, Coarctation of aorta OMIM:107550
Aorta Coarctation
Tetralogy of Fallot, Patent ductus arteriosus, Congestive heart failure, Coronary artery atherosc... ORPHA:1457
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Coarctation of aorta, Patent ductus arteriosus OMIM:601612
Autosomal Dominant Coarctation Of Aorta
Aortic arch aneurysm, Abnormal aortic arch morphology, Patent ductus arteriosus ORPHA:1455
Cardiac, Facial, And Digital Anomalies With Developmental Delay
Coarctation of aorta, Patent ductus arteriosus, Double outlet right ventricle, Pulmonic stenosis OMIM:618164
16P13.11 Microduplication Syndrome
Tetralogy of Fallot, Coarctation of aorta, Transposition of the great arteries ORPHA:261243
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Abnormal aortic morphology, Tetralogy of Fallot, Abnormality of the pulmonary artery ORPHA:1166
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe
Right aortic arch, Coarctation of aorta OMIM:140850
Cardiac Diverticulum
Pulmonary artery hypoplasia, Premature ventricular contraction, Mitral stenosis, Ventricular fibr... ORPHA:1686
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome
Hematochezia, Cerebral arteriovenous malformation, Aortic dissection, Hepatic arteriovenous malfo... OMIM:175050
Aortic Arch Interruption
Truncus arteriosus, Aortic regurgitation, Patent ductus arteriosus, Aortopulmonary window, Conges... ORPHA:2299
Homozygous Familial Hypercholesterolemia
Premature arteriosclerosis, Abnormal left ventricular function, Cerebral artery atherosclerosis, ... ORPHA:391665
Scimitar Syndrome
Tetralogy of Fallot, Patent ductus arteriosus, Pulmonary artery hypoplasia, Descending aorta hypo... ORPHA:185
Endocardial Fibroelastosis And Coarctation Of Abdominal Aorta
Mitral regurgitation, Cardiomyopathy, Coarctation of abdominal aorta OMIM:226100
Igg4-Related Aortitis
Abnormal aortic arch morphology, Thoracic aortic aneurysm, Dilated left subclavian artery, Aortic... ORPHA:449400
Arterial Tortuosity Syndrome
Aortic regurgitation, Generalized arterial tortuosity, Telangiectases of the cheeks, Hypertension... OMIM:208050
Ehlers-Danlos Syndrome, Autosomal Dominant, Type Unspecified
Aortic aneurysm, Mucoid extracellular matrix accumulation, Aortic dissection OMIM:130090
Holt-Oram Syndrome
Paroxysmal atrial fibrillation, Patent ductus arteriosus, First degree atrioventricular block, At... ORPHA:392
Hypoplastic Left Heart Syndrome
Hypoplastic aortic arch, Mitral stenosis, Patent ductus arteriosus ORPHA:2248
Cardiac Septal Defects With Coarctation Of The Aorta
Coarctation of aorta OMIM:212090
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Pulmonary arterial hypertension, Decreased methionine synthase activity, Coarctation of aorta OMIM:614857
Double Outlet Right Ventricle
Tetralogy of Fallot, Coarctation of aorta, Double outlet right ventricle, Pulmonic stenosis, Hear... ORPHA:3426
Congenital Disorder Of Glycosylation, Type It
Dilated cardiomyopathy, Elevated circulating alanine aminotransferase concentration, Chronic hepa... OMIM:614921
Absence Of The Pulmonary Artery
Tetralogy of Fallot, Atrial flutter, Reduced ejection fraction, Patent ductus arteriosus, Congest... ORPHA:980
Transaldolase Deficiency
Telangiectasia, Coarctation of aorta, Decreased liver function, Patent ductus arteriosus OMIM:606003
Arterial Tortuosity Syndrome
Dilated cardiomyopathy, Cardiac arrest, Aortic root aneurysm, Congestive heart failure, Hypertrop... ORPHA:3342
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome
Abnormal aortic morphology, Truncus arteriosus ORPHA:2516
Methimazole Embryofetopathy
Abnormal aortic morphology, Coarctation of aorta ORPHA:1923
Buschke-Ollendorff Syndrome
Abnormal aortic morphology, Hypertension ORPHA:1306
Right Pulmonary Artery, Anomalous Origin Of, Familial
Anomalous origin of right pulmonary artery from ascending aorta, Coarctation of aorta, Patent duc... OMIM:610338
Truncus Arteriosus
Tetralogy of Fallot, Anomalous origin of the left common carotid artery from the brachiocephalic ... ORPHA:3384
Telangiectasia, Hereditary Hemorrhagic, Type 1
Gastrointestinal hemorrhage, Cerebral arteriovenous malformation, Nail bed telangiectasia, Hepati... OMIM:187300
Noonan Syndrome 9
Coarctation of aorta, Pulmonic stenosis OMIM:616559
Umbilical Cord Ulceration-Intestinal Atresia Syndrome
Abnormal aortic morphology ORPHA:3405
Intellectual Developmental Disorder, Autosomal Dominant 21
Coarctation of aorta, Patent ductus arteriosus OMIM:615502
Giant Cell Arteritis
Double outlet right ventricle with subpulmonary ventricular septal defect without pulmonary steno... ORPHA:397
8P23.1 Microdeletion Syndrome
Tetralogy of Fallot, Patent ductus arteriosus, Hypertrophic cardiomyopathy, Pulmonary artery sten... ORPHA:251071
Craniofaciofrontodigital Syndrome
Gastrointestinal hemorrhage, Prominent superficial veins, Patent ductus arteriosus, Congestive he... ORPHA:363705
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Coarctation of aorta, Tricuspid regurgitation, Patent ductus arteriosus, Anomalous pulmonary veno... ORPHA:1120
Heterotaxy, Visceral, 12, Autosomal
Patent ductus arteriosus, Single coronary artery origin, Dextrotransposition of the great arterie... OMIM:619702
Diabetic Embryopathy
Abnormal aortic morphology, Tetralogy of Fallot, Abnormality of the pulmonary artery, Transpositi... ORPHA:1926
Myofibrillar Myopathy 11
Coarctation of aorta OMIM:619178
Cleft Lip/Palate-Intestinal Malrotation-Cardiopathy Syndrome
Abnormal aortic morphology, Patent ductus arteriosus ORPHA:2001
Right Atrial Isomerism
Tetralogy of Fallot, Total anomalous pulmonary venous return, Pulmonic stenosis, Pulmonary artery... OMIM:208530
Septopreoptic Holoprosencephaly
Coarctation of aorta ORPHA:280195
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion
Coarctation of aorta, Patent ductus arteriosus, Pulmonic stenosis ORPHA:284169
Cocaine Intoxication
Hypovolemia, Increased circulating lactate dehydrogenase concentration, Diffuse alveolar hemorrha... ORPHA:90068
Phace Association
Patent ductus arteriosus, Coarctation of aorta, Aortic aneurysm, Anomalous branches of internal c... OMIM:606519
Telangiectasia, Hereditary Hemorrhagic, Type 2
Cerebral arteriovenous malformation, Nail bed telangiectasia, Hepatic arteriovenous malformation,... OMIM:600376
Meester-Loeys Syndrome
Mitral regurgitation, Dilatation of the cerebral artery, Pulmonary artery aneurysm, Aortic dissec... OMIM:300989
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency
Congestive heart failure, Abnormal venous morphology, Aortic dissection, Arterial dissection, Abn... ORPHA:1900
Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly
Coarctation of aorta OMIM:217085
Cleft Palate, Cardiac Defects, And Mental Retardation
Coarctation of aorta OMIM:600987
Mullegama-Klein-Martinez Syndrome
Coarctation of aorta OMIM:301022
15Q11.2 Microdeletion Syndrome
Tetralogy of Fallot, Total anomalous pulmonary venous return, Coarctation of aorta ORPHA:261183
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Coarctation of aorta, Hypertension, Double outlet right ventricle, Atrioventricular block ORPHA:371428
Catel-Manzke Syndrome
Overriding aorta, Coarctation of aorta OMIM:616145
Phaver Syndrome
Hypoplastic aortic arch, Pulmonary artery atresia, Coarctation of aorta ORPHA:2876
Microphthalmia, Syndromic 9
Tetralogy of Fallot, Patent ductus arteriosus, Coarctation of aorta, Pulmonic stenosis, Pulmonary... OMIM:601186
Loeys-Dietz Syndrome 4
Aortic root aneurysm, Aortic dissection, Arterial tortuosity, Ascending tubular aorta aneurysm, A... OMIM:614816
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome
Overriding aorta, Abnormal aortic arch morphology, Arteriovenous malformation ORPHA:1110
Meacham Syndrome
Tetralogy of Fallot, Patent ductus arteriosus, Conotruncal defect, Coarctation of aorta, Transpos... ORPHA:3097
Alport Syndrome
Abnormal aortic morphology, Aortic aneurysm, Hypertension, Renal glomerular foam cells ORPHA:63
Kleefstra Syndrome Due To 9Q34 Microdeletion
Tetralogy of Fallot, Aortic regurgitation, Conotruncal defect, Coarctation of aorta, Aortic valve... ORPHA:96147
Noonan Syndrome 2
Patent ductus arteriosus, Hypertrophic cardiomyopathy, Coarctation of aorta, Pulmonic stenosis, A... OMIM:605275
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome
Tricuspid regurgitation, Coarctation of aorta OMIM:618929
Isotretinoin-Like Syndrome
Abnormal aortic arch morphology, Patent ductus arteriosus, Conotruncal defect, Persistent left su... ORPHA:2306
Noonan Syndrome 10
Patent ductus arteriosus, Hypertrophic cardiomyopathy, Coarctation of aorta, Pulmonic stenosis, M... OMIM:616564
Meacham Syndrome
Tetralogy of Fallot, Patent ductus arteriosus, Scimitar anomaly, Partial anomalous pulmonary veno... OMIM:608978
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies
Coarctation of aorta, Mitral stenosis, Patent ductus arteriosus OMIM:617260
Loeys-Dietz Syndrome
Cardiac arrest, Patent ductus arteriosus, Aortic dissection, Arterial dissection, Aortic aneurysm... ORPHA:60030
Pagod Syndrome
Arrhythmia, Pulmonary artery hypoplasia, Sudden cardiac death, Abnormality of the pulmonary arter... ORPHA:991
Acrocardiofacial Syndrome
Tetralogy of Fallot, Mitral stenosis, Coarctation of aorta, Truncus arteriosus ORPHA:2008
Encephalocraniocutaneous Lipomatosis
Coarctation of aorta, Pulmonary arterial hypertension, Abnormal aortic morphology, Interrupted ao... ORPHA:2396
Polymicrogyria With Or Without Vascular-Type Ehlers-Danlos Syndrome
Vascular dilatation, Varicose veins, Aortic dissection OMIM:618343
Osteopathia Striata-Cranial Sclerosis Syndrome
Aortic valve stenosis, Coarctation of aorta ORPHA:2780
Mucopolysaccharidosis Type 2, Severe Form
Arrhythmia, Peripheral arterial stenosis, Abnormal enzyme/coenzyme activity, Cardiomyopathy, Hype... ORPHA:217085
Kleefstra Syndrome
Arrhythmia, Tetralogy of Fallot, Pulmonary artery stenosis, Coarctation of aorta ORPHA:261494
Mucopolysaccharidosis Type 2, Attenuated Form
Arrhythmia, Peripheral arterial stenosis, Abnormal enzyme/coenzyme activity, Cardiomyopathy, Hype... ORPHA:217093
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Patent ductus arteriosus, Hypertrophic cardiomyopathy, Coarctation of aorta, Abnormal enzyme/coen... ORPHA:17
2Q37 Microdeletion Syndrome
Abnormal aortic morphology ORPHA:1001
Congenital Total Pulmonary Venous Return Anomaly
Mitral regurgitation, Patent ductus arteriosus, Supracardiac total anomalous pulmonary venous con... ORPHA:99125
Oculoectodermal Syndrome
Transient ischemic attack, Coarctation of aorta, Hypertrophic cardiomyopathy, Patent ductus arter... OMIM:600268
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Tetralogy of Fallot, Pulmonary insufficiency, Patent ductus arteriosus, Partial anomalous pulmona... OMIM:265380
Fryns Syndrome
Abnormal aortic morphology, Tetralogy of Fallot, Abnormal aortic arch morphology ORPHA:2059
Aneurysm-Osteoarthritis Syndrome
Abdominal aortic aneurysm, Aortic regurgitation, Patent ductus arteriosus, Aortic dissection, Pul... ORPHA:284984
Marfan Syndrome
Congestive heart failure, Descending aortic dissection, Pulmonary artery dilatation, Arterial dis... ORPHA:558
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2
Mitral regurgitation, Patent ductus arteriosus, Aortic root aneurysm, Right bundle branch block, ... OMIM:617506
Sifrim-Hitz-Weiss Syndrome
Tetralogy of Fallot, Coarctation of aorta OMIM:617159
Heterotaxy, Visceral, 5, Autosomal
Total anomalous pulmonary venous return, Patent ductus arteriosus, Dextrotransposition of the gre... OMIM:270100
Loeys-Dietz Syndrome 3
Ascending aortic dissection, Abdominal aortic aneurysm, Patent ductus arteriosus, Thoracic aortic... OMIM:613795
Hardikar Syndrome
Hepatic failure, Portal hypertension, Patent ductus arteriosus, Decreased liver function, Partial... OMIM:301068
Loeys-Dietz Syndrome 2
Aortic arch aneurysm, Abdominal aortic aneurysm, Patent ductus arteriosus, Aortic root aneurysm, ... OMIM:610168
Mosaic Variegated Aneuploidy Syndrome 2
Aortic regurgitation, Coarctation of aorta OMIM:614114
Lowry-Maclean Syndrome
Coarctation of aorta ORPHA:2409
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly
Tetralogy of Fallot, Absent pulmonary artery, Patent ductus arteriosus, Coarctation of aorta OMIM:600460
Fg Syndrome Type 1
Pulmonary arterial hypertension, Coarctation of aorta ORPHA:93932
Kabuki Syndrome 2
Coarctation of aorta, Pulmonic stenosis OMIM:300867
Fanconi Anemia, Complementation Group B
Coarctation of aorta, Patent ductus arteriosus OMIM:300514
Heterotaxy, Visceral, 1, X-Linked
Bilateral superior vena cava, Total anomalous pulmonary venous return, Patent ductus arteriosus, ... OMIM:306955
Mosaic Variegated Aneuploidy Syndrome
Abnormal aortic morphology, Aortic regurgitation, Coarctation of aorta ORPHA:1052
Generalized Arterial Calcification Of Infancy
Abnormal retinal artery morphology, Medial calcification of large arteries, Left ventricular syst... ORPHA:51608
Congenital Heart Defects And Skeletal Malformations Syndrome
Coarctation of aorta OMIM:617602
Schimmelpenning-Feuerstein-Mims Syndrome
Coarctation of aorta OMIM:163200
Mucopolysaccharidosis Type 2
Arrhythmia, Peripheral arterial stenosis, Cardiomyopathy, Hypertension, Abnormal aortic morphology ORPHA:580
Developmental Delay With Or Without Dysmorphic Facies And Autism
Coarctation of aorta, Patent ductus arteriosus OMIM:618454
Phace Syndrome
Tetralogy of Fallot, Aortic root aneurysm, Cerebral arteriovenous malformation, Coarctation of ao... ORPHA:42775
Holoprosencephaly
Abnormal aortic morphology, Tetralogy of Fallot, Arrhythmia ORPHA:2162
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2
Aortic rupture, Patent ductus arteriosus OMIM:614557
Autosomal Dominant Cutis Laxa
Aortic regurgitation, Congestive heart failure, Dilatation of the ventricular cavity, Coarctation... ORPHA:90348
Mosaic Trisomy 1
Pulmonary artery atresia, Coarctation of aorta ORPHA:1692
Maternal Phenylketonuria
Tetralogy of Fallot, Double outlet right ventricle, Coarctation of aorta ORPHA:2209
Fanconi Anemia
Tetralogy of Fallot, Patent ductus arteriosus, Hypertrophic cardiomyopathy, Arteriovenous malform... ORPHA:84
Diamond-Blackfan Anemia 1
Tricuspid stenosis, Elevated red cell adenosine deaminase level, Coarctation of aorta, Congestive... OMIM:105650
Marfan Syndrome
Mitral regurgitation, Aortic regurgitation, Aortic root aneurysm, Congestive heart failure, Pulmo... OMIM:154700
Igg4-Related Kidney Disease
Abnormal aortic morphology, Decreased liver function, Pericarditis, Arteritis ORPHA:449395
Alagille Syndrome 1
Tetralogy of Fallot, Hepatic failure, Peripheral pulmonary artery stenosis, Coarctation of aorta,... OMIM:118450
Pseudotrisomy 13 Syndrome
Coarctation of aorta OMIM:264480
17Q11 Microdeletion Syndrome
Abnormal internal carotid artery morphology, Hypertrophic cardiomyopathy, Coarctation of aorta, P... ORPHA:97685
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Tetralogy of Fallot, Aortic regurgitation, Coarctation of aorta, Truncus arteriosus ORPHA:508498
Vascular Ehlers-Danlos Syndrome
Arteriovenous fistula, Peripheral arteriovenous fistula, Pulmonary artery aneurysm, Aortic dissec... ORPHA:286
Myhre Syndrome
Aortic valve stenosis, Coarctation of aorta, Hypertension, Patent ductus arteriosus OMIM:139210
Opitz gbbb syndrome, type II
Pulmonary arterial hypertension, Coarctation of aorta, Patent ductus arteriosus OMIM:145410
Distal Monosomy 15Q
Abnormal aortic arch morphology, Patent ductus arteriosus, Double outlet right ventricle with dou... ORPHA:1596
Kaufman Oculocerebrofacial Syndrome
Coarctation of aorta OMIM:244450
Opitz Gbbb Syndrome
Coarctation of aorta, Persistent left superior vena cava, Patent ductus arteriosus, Aortic root a... ORPHA:2745
Autosomal Recessive Robinow Syndrome
Abnormal aortic morphology, Tetralogy of Fallot ORPHA:1507
Ctcf-Related Neurodevelopmental Disorder
Patent ductus arteriosus, Pulmonary hemorrhage, Coarctation of aorta, Pulmonary arterial hyperten... ORPHA:363611
Viss Syndrome
Carotid artery tortuosity, Patent ductus arteriosus, Iliac artery aneurysm, Aortic root aneurysm,... OMIM:619472
Turner Syndrome Due To Structural X Chromosome Anomalies
Aortic arch aneurysm, Myocardial infarction, Aortic dissection, Coarctation of aorta, Arterial di... ORPHA:99413
Turner Syndrome
Aortic arch aneurysm, Myocardial infarction, Aortic dissection, Coarctation of aorta, Arterial di... ORPHA:881
Mosaic Monosomy X
Aortic arch aneurysm, Myocardial infarction, Aortic dissection, Coarctation of aorta, Arterial di... ORPHA:99228
Monosomy X
Aortic arch aneurysm, Myocardial infarction, Aortic dissection, Coarctation of aorta, Arterial di... ORPHA:99226
Mosaic Trisomy 16
Coarctation of aorta, Patent ductus arteriosus, Single coronary artery origin ORPHA:1708
Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities
Tetralogy of Fallot, Coarctation of aorta OMIM:618748
Mycophenolate Mofetil Embryopathy
Coarctation of aorta ORPHA:268249
Jacobsen Syndrome
Aortic valve stenosis, Coarctation of aorta ORPHA:2308
Thrombocytopenia-Absent Radius Syndrome
Tetralogy of Fallot, Coarctation of aorta OMIM:274000
Short-Rib Thoracic Dysplasia 15 With Polydactyly
Coarctation of aorta, Patent ductus arteriosus OMIM:617088
Osteogenesis Imperfecta
Aortic regurgitation, Aortic root aneurysm, Aortic dissection, Arterial dissection, Aortic aneury... ORPHA:666
45,X/46,Xy Mixed Gonadal Dysgenesis
Tachycardia, Prolonged QT interval, Coarctation of aorta ORPHA:1772
Meckel Syndrome, Type 1
Coarctation of aorta, Vascular dilatation, Patent ductus arteriosus OMIM:249000
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Patent ductus arteriosus, Coarctation of aorta, Pulmonic stenosis, Vascular ring, Cardiac conduct... ORPHA:353281
Esophageal Atresia
Tetralogy of Fallot, Coarctation of aorta ORPHA:1199
Blomstrand Lethal Chondrodysplasia
Coarctation of aorta ORPHA:50945
Blackfan-Diamond Anemia
Radial artery aplasia, Coarctation of aorta, Elevated red cell adenosine deaminase level ORPHA:124
Robinow Syndrome
Coarctation of aorta, Pulmonic stenosis ORPHA:97360
Noonan Syndrome 1
Coarctation of aorta, Hypertrophic cardiomyopathy, Patent ductus arteriosus, Pulmonic stenosis OMIM:163950
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Tetralogy of Fallot, Prolonged neonatal jaundice, Coarctation of aorta OMIM:210710
Floating-Harbor Syndrome
Persistent left superior vena cava, Coarctation of aorta OMIM:136140
Kabuki Syndrome
Coarctation of aorta ORPHA:2322
Smith-Lemli-Opitz Syndrome
Coarctation of aorta, Patent ductus arteriosus OMIM:270400
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Patent ductus arteriosus, Abnormal subclavian artery morphology, Coarctation of aorta, Pulmonic s... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Patent ductus arteriosus, Abnormal subclavian artery morphology, Coarctation of aorta, Pulmonic s... ORPHA:353277
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum
Coarctation of aorta, Patent ductus arteriosus OMIM:619480
Floating-Harbor Syndrome
Tetralogy of Fallot, Coarctation of aorta, Persistent left superior vena cava ORPHA:2044
8Q24.3 Microdeletion Syndrome
Gastrointestinal hemorrhage, Patent ductus arteriosus, Coarctation of aorta, Truncus arteriosus, ... ORPHA:508488
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Tetralogy of Fallot, Patent ductus arteriosus, Coarctation of aorta, Pulmonic stenosis, Pulmonary... ORPHA:261552
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Tetralogy of Fallot, Coarctation of aorta, Pulmonic stenosis, Pulmonary artery sling, Abnormality... ORPHA:261537
Pallister-Hall Syndrome
Coarctation of aorta, Patent ductus arteriosus ORPHA:672
Mowat-Wilson Syndrome
Tetralogy of Fallot, Patent ductus arteriosus, Pulmonic stenosis, Coarctation of aorta, Pulmonary... ORPHA:2152
Kabuki Syndrome 1
Coarctation of aorta OMIM:147920
Pallister-Killian Syndrome
Coarctation of aorta, Hypertrophic cardiomyopathy, Aortic valve stenosis, Patent ductus arteriosus OMIM:601803
Craniofacial Microsomia
Right aortic arch, Tetralogy of Fallot, Patent ductus arteriosus, Coarctation of aorta OMIM:164210

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 Poldip2

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 Poldip2.

No publications found that use IMPC mice or data for Poldip2.

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MGI Allele Allele Type Produced
Poldip2tm6(L1L2_gt2) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors

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