banner
Genes Phenotypes Help, News, Blog

Gene: Poldip2 MGI:1915061

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

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 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
Fibromuscular Dysplasia, Arterial
Aortic dissection, Myocardial infarction, Renovascular hypertension, Stroke, Intermittent claudic... OMIM:135580
Moyamoya Disease 1
Carotid artery occlusion, Inflammatory arteriopathy, Telangiectasia OMIM:252350
Aorto-Ventricular Tunnel
Abnormal coronary artery morphology, Aorto-ventricular tunnel, Congestive heart failure, Heart mu... ORPHA:3400
Aortic Aneurysm, Familial Thoracic 4
Cystic medial necrosis, Aortic regurgitation, Anterior cerebral artery stenosis, Posterior cerebr... OMIM:132900
Telangiectasia, Hereditary Benign
Diffuse telangiectasia, Vascular dilatation OMIM:187260
Capillary Malformation-Arteriovenous Malformation 2
Vein of Galen aneurysmal malformation, Telangiectasia OMIM:618196
Familial Aortic Dissection
Aortic regurgitation, Descending thoracic aorta aneurysm, Patent ductus arteriosus, Mucoid extrac... ORPHA:229
Congenital Heart Defects, Multiple Types, 4
Aortic valve stenosis, Tetralogy of Fallot, Left ventricular outflow tract obstruction, Coarctati... OMIM:615779
Aortic Aneurysm, Familial Thoracic 7
Descending aortic dissection, Aortic aneurysm, Ascending aortic dissection, Aortic rupture OMIM:613780
Hypoplastic Left Heart Syndrome 1
Aortic valve stenosis, Coarctation of aorta OMIM:241550
Moyamoya Disease
Abnormal cerebral vascular morphology, Telangiectasia ORPHA:2573
Aortic Aneurysm, Familial Thoracic 8
Coronary artery dissection, Descending aortic dissection, Coronary artery aneurysm, Ascending aor... OMIM:615436
Cerebral Cavernous Malformations 2
Cerebral cavernous malformation, Stroke, Cerebral hemorrhage, Telangiectasia OMIM:603284
Distal Duplication 14Q
Patent ductus arteriosus, Abnormal aortic morphology ORPHA:1705
Aortic Aneurysm, Familial Thoracic 6
Thoracic aortic aneurysm, Descending aortic dissection, Premature coronary artery atherosclerosis... OMIM:611788
Coarctation Of Aorta
Coarctation of aorta OMIM:120000
Phosphoribosylpyrophosphate Synthetase Superactivity
Hypertension, Arrhythmia, Abnormal aortic morphology, Cardiomyopathy ORPHA:3222
Familial Cerebral Saccular Aneurysm
Transient ischemic attack, Cerebral berry aneurysm, Subarachnoid hemorrhage, Intracranial hemorrh... ORPHA:231160
Congenital Heart Defects, Multiple Types, 7
Aortopulmonary collateral arteries, Right aortic arch, Pulmonic stenosis, Pulmonary artery atresi... OMIM:618780
Telangiectasia, Hereditary Hemorrhagic, Type 5
Elevated hepatic transaminase, Spontaneous, recurrent epistaxis, Portal hypertension, Telangiectasia OMIM:615506
Cardiomyopathy, Familial Restrictive, 3
Abnormal ST segment, Reduced left ventricular ejection fraction, Hypotension, Left axis deviation... OMIM:612422
Aortic Aneurysm, Familial Thoracic 11, Susceptibility To
Descending aortic dissection, Ascending aortic dissection, Aortic aneurysm OMIM:617349
Aortic Valve Disease 2
Aortic regurgitation, Calcification of the aorta, Coarctation of aorta, Mitral regurgitation, Asc... OMIM:614823
Pulmonary Hypertension, Primary, 1
Elevated right atrial pressure, Right ventricular failure, Increased pulmonary vascular resistanc... OMIM:178600
Aortic Aneurysm, Familial Thoracic 9
Ascending aortic dissection, Thoracic aortic aneurysm, Aortic tortuosity, Atrial fibrillation OMIM:616166
Congenital Heart Defects, Multiple Types, 6
Hypoplastic pulmonary veins, Left ventricular outflow tract obstruction, Coarctation of aorta, Ri... OMIM:613854
Congenital Heart Defects, Multiple Types, 2
Aortic regurgitation, Atrial fibrillation, Congestive heart failure, Left ventricular outflow tra... OMIM:614980
Congenitally Uncorrected Transposition Of The Great Arteries
Levotransposition of the great arteries, Tachycardia, Abnormal coronary artery morphology, Cardia... ORPHA:860
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Left-to-right shunt, Congestive heart failure, Patent ductus arteriosus, Left ventricular outflow... ORPHA:99050
Atrial Septal Defect 4
Coarctation of aorta OMIM:611363
Aorta Coarctation
Pseudocoarctation of the aorta, Congestive heart failure, Patent ductus arteriosus, Hypoplastic a... ORPHA:1457
Fixed Subaortic Stenosis
Aortic regurgitation, Paroxysmal atrial fibrillation, Angina pectoris, Congestive heart failure, ... ORPHA:3092
Aortic Valve Disease 3
Aortic root aneurysm, Ascending aortic dissection, Aortic valve stenosis OMIM:618496
Tricuspid Atresia
Pulmonary artery atresia, Persistent left superior vena cava, Transposition of the great arteries... ORPHA:1209
Inflammatory Skin And Bowel Disease, Neonatal, 2
Hypertension, Coarctation of aorta OMIM:616069
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Aortic regurgitation, Transient ischemic attack, Subarachnoid hemorrhage, Descending thoracic aor... ORPHA:91387
Partial Atrioventricular Septal Defect
Atrial flutter, Transient ischemic attack, Angina pectoris, Patent ductus arteriosus, Anomalous p... ORPHA:1330
Transaldolase Deficiency
Telangiectasia, Coarctation of aorta ORPHA:101028
Cardiomyopathy, Dilated, 1S
Tricuspid regurgitation, Sudden cardiac death, Congestive heart failure, Dilated cardiomyopathy, ... OMIM:613426
Multisystemic Smooth Muscle Dysfunction Syndrome
Aortic arch aneurysm, Thoracic aortic aneurysm, Brachiocephalic artery aneurysm, Hypoperistalsis,... OMIM:613834
Familial Bicuspid Aortic Valve
Aortic arch aneurysm, Aortic regurgitation, Heart murmur, Coarctation of aorta, Hypertension, Asc... ORPHA:402075
Aortic Arch Interruption, Facial Palsy, And Retinal Coloboma
Interrupted aortic arch, Coarctation of aorta OMIM:107550
Conotruncal Heart Malformations
Truncus arteriosus, Transposition of the great arteries, Double outlet right ventricle, Coarctati... OMIM:217095
Congenital Heart Defects, Multiple Types, 9
Aortopulmonary collateral arteries, Arteria lusoria, Double outlet right ventricle, Transposition... OMIM:620294
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Patent ductus arteriosus, Coarctation of aorta OMIM:601612
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome
Epistaxis, Pulmonary arteriovenous malformation, Cerebral arteriovenous malformation, Telangiecta... OMIM:175050
Autosomal Dominant Coarctation Of Aorta
Aortic arch aneurysm, Patent ductus arteriosus, Abnormal aortic arch morphology ORPHA:1455
16P13.11 Microduplication Syndrome
Tetralogy of Fallot, Transposition of the great arteries, Coarctation of aorta ORPHA:261243
Aortic Arch Interruption
Aortic regurgitation, Shock, Tricuspid regurgitation, Blood pressure substantially higher in arms... ORPHA:2299
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Abnormality of the pulmonary artery, Tetralogy of Fallot, Abnormal aortic morphology ORPHA:1166
Cardiac Diverticulum
Ventricular tachycardia, Pulmonary artery hypoplasia, Abnormal EKG, Patent ductus arteriosus, Pul... ORPHA:1686
Cardiac Septal Defects With Coarctation Of The Aorta
Coarctation of aorta OMIM:212090
Aortic Aneurysm, Familial Thoracic 12
Aortic regurgitation, Ascending tubular aorta aneurysm, Aortic root aneurysm, Ascending aortic di... OMIM:619825
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe
Right aortic arch, Coarctation of aorta OMIM:140850
Scimitar Syndrome
Left-to-right shunt, Anomalous origin of left coronary artery from the pulmonary artery, Descendi... ORPHA:185
Hypoplastic Left Heart Syndrome
Patent ductus arteriosus, Hypoplastic aortic arch, Mitral stenosis ORPHA:2248
Igg4-Related Aortitis
Thoracic aortic aneurysm, Abnormal aortic arch morphology, Ascending tubular aorta aneurysm, Dila... ORPHA:449400
Endocardial Fibroelastosis And Coarctation Of Abdominal Aorta
Coarctation of abdominal aorta, Cardiomyopathy, Mitral regurgitation OMIM:226100
Aortic Aneurysm, Familial Thoracic 10
Aortic arch aneurysm, Thoracic aortic aneurysm, Fusiform ascending tubular aorta aneurysm, Ascend... OMIM:617168
Hereditary Hemorrhagic Telangiectasia
Conjunctival telangiectasia, Gastrointestinal hemorrhage, Peripheral arteriovenous fistula, Trans... ORPHA:774
Holt-Oram Syndrome
Paroxysmal atrial fibrillation, First degree atrioventricular block, Patent ductus arteriosus, At... ORPHA:392
Congenital Disorder Of Glycosylation, Type It
Elevated hepatic transaminase, Tachycardia, Elevated circulating aspartate aminotransferase conce... OMIM:614921
Double Outlet Right Ventricle
Tachycardia, Double outlet right ventricle, Heart murmur, Coarctation of aorta, Pulmonic stenosis... ORPHA:3426
Homozygous Familial Hypercholesterolemia
Angina pectoris, Precocious atherosclerosis, Myocardial infarction, Abnormal internal carotid art... ORPHA:391665
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Decreased methionine synthase activity, Patent ductus arteriosus, Pulmonary arterial hypertension... OMIM:614857
Absence Of The Pulmonary Artery
Abnormal EKG, Atrial flutter, Tachycardia, Abnormal coronary artery morphology, Atrial fibrillati... ORPHA:980
Arterial Tortuosity Syndrome
Telangiectasia of the skin, Cardiac arrest, Myocardial infarction, Congestive heart failure, Pulm... ORPHA:3342
Transaldolase Deficiency
Patent ductus arteriosus, Decreased liver function, Telangiectasia, Coarctation of aorta OMIM:606003
Methimazole Embryofetopathy
Abnormal aortic morphology, Coarctation of aorta ORPHA:1923
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome
Truncus arteriosus, Abnormal aortic morphology ORPHA:2516
Telangiectasia, Hereditary Hemorrhagic, Type 1
Conjunctival telangiectasia, Cerebral arteriovenous malformation, Tongue telangiectasia, Venous v... OMIM:187300
Arterial Tortuosity Syndrome
Aortic regurgitation, Carotid artery dissection, Pulmonary artery stenosis, Hypertension, Aortic ... OMIM:208050
Right Pulmonary Artery, Anomalous Origin Of, Familial
Patent ductus arteriosus, Anomalous origin of right pulmonary artery from ascending aorta, Coarct... OMIM:610338
Telangiectasia, Hereditary Hemorrhagic, Type 2
Conjunctival telangiectasia, Cerebral arteriovenous malformation, Tongue telangiectasia, Gastroin... OMIM:600376
Hypermethioninemia Due To Adenosine Kinase Deficiency
Elevated circulating alanine aminotransferase concentration, Pulmonic stenosis, Coarctation of aorta OMIM:614300
Truncus Arteriosus
Aortic regurgitation, Tachycardia, Single coronary artery origin, Abnormal coronary artery morpho... ORPHA:3384
Noonan Syndrome 9
Pulmonic stenosis, Coarctation of aorta OMIM:616559
Craniofaciofrontodigital Syndrome
Gastrointestinal hemorrhage, Persistent fetal circulation, Prominent superficial veins, Anomalous... ORPHA:363705
Intellectual Developmental Disorder, Autosomal Dominant 21
Patent ductus arteriosus, Coarctation of aorta OMIM:615502
Giant Cell Arteritis
Pericarditis, Epistaxis, Sudden cardiac death, Vasculitis, Cerebral ischemia, Aortic dissection, ... ORPHA:397
Umbilical Cord Ulceration-Intestinal Atresia Syndrome
Abnormal aortic morphology ORPHA:3405
8P23.1 Microdeletion Syndrome
Pulmonary artery stenosis, Patent ductus arteriosus, Abnormal aortic morphology, Transposition of... ORPHA:251071
Diabetic Embryopathy
Abnormality of the pulmonary artery, Tetralogy of Fallot, Transposition of the great arteries, Ab... ORPHA:1926
Myofibrillar Myopathy 11
Coarctation of aorta OMIM:619178
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Patent ductus arteriosus, Tricuspid regurgitation, Anomalous pulmonary venous return, Coarctation... ORPHA:1120
Heterotaxy, Visceral, 12, Autosomal
Patent ductus arteriosus, Partial anomalous pulmonary venous return, Hypoplastic aortic arch, Dex... OMIM:619702
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion
Patent ductus arteriosus, Pulmonic stenosis, Coarctation of aorta ORPHA:284169
Cleft Lip/Palate-Intestinal Malrotation-Cardiopathy Syndrome
Patent ductus arteriosus, Abnormal aortic morphology ORPHA:2001
Septopreoptic Holoprosencephaly
Coarctation of aorta ORPHA:280195
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Coarctation of aorta OMIM:620210
Malignant Migrating Focal Seizures Of Infancy
Aortopulmonary collateral arteries ORPHA:293181
Heterotaxy, Visceral, 8, Autosomal
Aortopulmonary collateral arteries, Right aortic arch, Pulmonary artery atresia, Double outlet ri... OMIM:617205
Right Atrial Isomerism
Aortopulmonary collateral arteries, Total anomalous pulmonary venous return, Transposition of the... OMIM:208530
Cocaine Intoxication
Prolonged QT interval, Tachycardia, Prolonged QRS complex, Subarachnoid hemorrhage, Cerebral hemo... ORPHA:90068
Phace Association
Anomalous branches of internal carotid artery, Patent ductus arteriosus, Arterial stenosis, Coarc... OMIM:606519
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency
Abnormal circulating enzyme concentration or activity, Congestive heart failure, Arterial rupture... ORPHA:1900
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Aortic regurgitation, Tricuspid regurgitation, First degree atrioventricular block, Congestive he... OMIM:620066
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Hypertension, Double outlet right ventricle, Atrioventricular block, Coarctation of aorta ORPHA:371428
Phaver Syndrome
Pulmonary artery atresia, Hypoplastic aortic arch, Coarctation of aorta ORPHA:2876
You-Hoover-Fong Syndrome
Coarctation of aorta, Double aortic arch, Vascular ring OMIM:616954
Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly
Coarctation of aorta OMIM:217085
Loeys-Dietz Syndrome 4
Arterial tortuosity, Ascending tubular aorta aneurysm, Aortic root aneurysm, Aortic dissection, A... OMIM:614816
Kleefstra Syndrome Due To 9Q34 Microdeletion
Aortic regurgitation, Conotruncal defect, Coarctation of aorta, Aortic valve stenosis, Tetralogy ... ORPHA:96147
15Q11.2 Microdeletion Syndrome
Tetralogy of Fallot, Total anomalous pulmonary venous return, Coarctation of aorta ORPHA:261183
Meacham Syndrome
Patent ductus arteriosus, Anomalous pulmonary venous return, Conotruncal defect, Coarctation of a... ORPHA:3097
Alport Syndrome
Hypertension, Renal glomerular foam cells, Aortic aneurysm, Abnormal aortic morphology ORPHA:63
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome
Tricuspid regurgitation, Coarctation of aorta OMIM:618929
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
Persistent left superior vena cava, Coarctation of aorta OMIM:618494
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development
Achalasia, Coarctation of aorta OMIM:600987
Noonan Syndrome 2
Abnormal coronary artery origin, Patent ductus arteriosus, Coarctation of aorta, Cardiomyopathy, ... OMIM:605275
Cardiac, Facial, And Digital Anomalies With Developmental Delay
Patent ductus arteriosus, Double outlet right ventricle, Coarctation of aorta, Supravalvar pulmon... OMIM:618164
Microphthalmia, Syndromic 9
Patent ductus arteriosus, Coarctation of aorta, Pulmonic stenosis, Pulmonary artery atresia, Trun... OMIM:601186
Meacham Syndrome
Patent ductus arteriosus, Partial anomalous pulmonary venous return, Coarctation of aorta, Right ... OMIM:608978
Noonan Syndrome 10
Patent ductus arteriosus, Coarctation of aorta, Hypertrophic cardiomyopathy, Mitral regurgitation... OMIM:616564
Loeys-Dietz Syndrome
Cardiac arrest, Arterial tortuosity, Patent ductus arteriosus, Aortic dissection, Arterial dissec... ORPHA:60030
Pagod Syndrome
Sudden cardiac death, Pulmonary artery hypoplasia, Abnormal aortic morphology, Arrhythmia, Abnorm... ORPHA:991
Polymicrogyria With Or Without Vascular-Type Ehlers-Danlos Syndrome
Varicose veins, Pulmonic stenosis, Vascular dilatation, Aortic dissection OMIM:618343
Heterotaxy, Visceral, 5, Autosomal
Atrial reentry tachycardia, Patent ductus arteriosus, Partial anomalous pulmonary venous return, ... OMIM:270100
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Elevated hepatic transaminase, Abnormal circulating enzyme concentration or activity, Patent duct... ORPHA:17
Acrocardiofacial Syndrome
Truncus arteriosus, Tetralogy of Fallot, Mitral stenosis, Coarctation of aorta ORPHA:2008
Encephalocraniocutaneous Lipomatosis
Coarctation of aorta, Abnormal aortic morphology, Interrupted aortic arch, Pulmonary arterial hyp... ORPHA:2396
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2
Tricuspid regurgitation, Patent ductus arteriosus, Hypoplastic aortic arch, Coarctation of aorta,... OMIM:617506
Kleefstra Syndrome
Pulmonary artery stenosis, Tetralogy of Fallot, Arrhythmia, Coarctation of aorta ORPHA:261494
Osteopathia Striata-Cranial Sclerosis Syndrome
Aortic valve stenosis, Coarctation of aorta ORPHA:2780
Mucopolysaccharidosis Type 2, Severe Form
Abnormal circulating enzyme concentration or activity, Peripheral arterial stenosis, Heart murmur... ORPHA:217085
2Q37 Microdeletion Syndrome
Abnormal aortic morphology ORPHA:1001
Sifrim-Hitz-Weiss Syndrome
Patent ductus arteriosus, Tetralogy of Fallot, Coarctation of aorta OMIM:617159
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Pulmonary insufficiency, Pulmonary artery stenosis, Patent ductus arteriosus, Partial anomalous p... OMIM:265380
Mucopolysaccharidosis Type 2, Attenuated Form
Abnormal circulating enzyme concentration or activity, Peripheral arterial stenosis, Heart murmur... ORPHA:217093
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies
Patent ductus arteriosus, Mitral stenosis, Coarctation of aorta OMIM:617260
Congenital Total Pulmonary Venous Return Anomaly
Tachycardia, Tricuspid regurgitation, Right ventricular failure, Pulmonary artery stenosis, Paten... ORPHA:99125
Fryns Syndrome
Tetralogy of Fallot, Abnormal aortic arch morphology, Abnormal aortic morphology ORPHA:2059
Aneurysm-Osteoarthritis Syndrome
Aortic regurgitation, Atrial fibrillation, Arterial tortuosity, Patent ductus arteriosus, Dilatat... ORPHA:284984
Galloway-Mowat Syndrome 3
Hypertension, Coarctation of aorta OMIM:617729
Hardikar Syndrome
Elevated hepatic transaminase, Portal hypertension, Hematemesis, Pulmonary artery stenosis, Paten... OMIM:301068
Loeys-Dietz Syndrome 3
Tortuous cerebral arteries, Atrial fibrillation, Thoracic aortic aneurysm, Subarachnoid hemorrhag... OMIM:613795
Heterotaxy, Visceral, 1, X-Linked
Mitral stenosis, Patent ductus arteriosus, Hypoplastic aortic arch, Dextrotransposition of the gr... OMIM:306955
Fg Syndrome Type 1
Pulmonary arterial hypertension, Coarctation of aorta ORPHA:93932
Marfan Syndrome
Congestive heart failure, Descending aortic dissection, Dilatation of an abdominal artery, Ascend... ORPHA:558
Mosaic Variegated Aneuploidy Syndrome 2
Aortic regurgitation, Coarctation of aorta OMIM:614114
Loeys-Dietz Syndrome 2
Aortic arch aneurysm, Arterial tortuosity, Descending thoracic aorta aneurysm, Patent ductus arte... OMIM:610168
Lowry-Maclean Syndrome
Coarctation of aorta ORPHA:2409
Diaphragmatic Hernia 4, With Cardiovascular Defects
Aortopulmonary collateral arteries, Aortopulmonary window, Pulmonary artery hypoplasia, Aortic ro... OMIM:620025
Generalized Arterial Calcification Of Infancy
Medial calcification of large arteries, Transient ischemic attack, Elevated alkaline phosphatase ... ORPHA:51608
Toriello-Carey Syndrome
Patent ductus arteriosus, Coarctation of aorta, Cardiomyopathy, Pulmonic stenosis, Tetralogy of F... ORPHA:3338
Kabuki Syndrome 2
Pulmonic stenosis, Coarctation of aorta OMIM:300867
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly
Absent pulmonary artery, Patent ductus arteriosus, Tetralogy of Fallot, Coarctation of aorta OMIM:600460
Fanconi Anemia, Complementation Group B
Patent ductus arteriosus, Coarctation of aorta OMIM:300514
Oculoectodermal Syndrome
Hypertrophic cardiomyopathy, Patent ductus arteriosus, Transient ischemic attack, Coarctation of ... OMIM:600268
Mosaic Variegated Aneuploidy Syndrome
Aortic regurgitation, Abnormal aortic morphology, Coarctation of aorta ORPHA:1052
Congenital Heart Defects And Skeletal Malformations Syndrome
Aortic root aneurysm, Coarctation of aorta OMIM:617602
Schimmelpenning-Feuerstein-Mims Syndrome
Coarctation of aorta OMIM:163200
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2
Patent ductus arteriosus, Tricuspid regurgitation, Mitral regurgitation, Aortic rupture OMIM:614557
Mucopolysaccharidosis Type 2
Peripheral arterial stenosis, Cardiomyopathy, Hypertension, Abnormal aortic morphology, Arrhythmia ORPHA:580
Phace Syndrome
Cerebral arteriovenous malformation, Coarctation of aorta, Aortic root aneurysm, Abnormal carotid... ORPHA:42775
Holoprosencephaly
Arrhythmia, Tetralogy of Fallot, Abnormal aortic morphology ORPHA:2162
Autosomal Dominant Cutis Laxa
Aortic regurgitation, Congestive heart failure, Dilatation of the ventricular cavity, Coarctation... ORPHA:90348
Alagille Syndrome 1
Elevated hepatic transaminase, Hepatic failure, Coarctation of aorta, Stroke, Renal artery stenos... OMIM:118450
Meester-Loeys Syndrome
Ascending tubular aorta aneurysm, Aortic root aneurysm, Dilatation of the cerebral artery, Aortic... OMIM:300989
Developmental Delay With Or Without Dysmorphic Facies And Autism
Pulmonary arterial hypertension, Patent ductus arteriosus, Coarctation of aorta OMIM:618454
Mosaic Trisomy 1
Pulmonary artery atresia, Coarctation of aorta ORPHA:1692
Maternal Phenylketonuria
Double outlet right ventricle, Tetralogy of Fallot, Coarctation of aorta ORPHA:2209
Fanconi Anemia
Patent ductus arteriosus, Abnormal carotid artery morphology, Abnormal aortic morphology, Arterio... ORPHA:84
17Q11 Microdeletion Syndrome
Telangiectasia of the skin, Abnormal internal carotid artery morphology, Renovascular hypertensio... ORPHA:97685
Marfan Syndrome
Aortic regurgitation, Tricuspid regurgitation, Congestive heart failure, Ascending tubular aorta ... OMIM:154700
Distal Deletion 15Q
Double outlet right ventricle with doubly committed ventricular septal defect and pulmonary steno... ORPHA:1596
Pseudotrisomy 13 Syndrome
Coarctation of aorta OMIM:264480
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Aortic regurgitation, Truncus arteriosus, Tetralogy of Fallot, Coarctation of aorta ORPHA:508498
Vascular Ehlers-Danlos Syndrome
Peripheral arteriovenous fistula, Arterial dissection, Transient ischemic attack, Telangiectasia ... ORPHA:286
Opitz Gbbb Syndrome
Patent ductus arteriosus, Persistent left superior vena cava, Aortic root aneurysm, Coarctation o... ORPHA:2745
Autosomal Recessive Robinow Syndrome
Tetralogy of Fallot, Abnormal aortic morphology ORPHA:1507
Igg4-Related Kidney Disease
Pericarditis, Abnormal aortic morphology, Arteritis, Decreased liver function ORPHA:449395
Myhre Syndrome
Hypertension, Patent ductus arteriosus, Aortic valve stenosis, Coarctation of aorta OMIM:139210
Turner Syndrome Due To Structural X Chromosome Anomalies
Aortic arch aneurysm, Elevated hepatic transaminase, Prolonged QT interval, Myocardial infarction... ORPHA:99413
Turner Syndrome
Aortic arch aneurysm, Elevated hepatic transaminase, Prolonged QT interval, Myocardial infarction... ORPHA:881
Mosaic Monosomy X
Aortic arch aneurysm, Elevated hepatic transaminase, Prolonged QT interval, Myocardial infarction... ORPHA:99228
Monosomy X
Aortic arch aneurysm, Elevated hepatic transaminase, Prolonged QT interval, Myocardial infarction... ORPHA:99226
Kaufman Oculocerebrofacial Syndrome
Coarctation of aorta OMIM:244450
Mosaic Trisomy 16
Patent ductus arteriosus, Single coronary artery origin, Coarctation of aorta ORPHA:1708
Gabriele-De Vries Syndrome
Aortopulmonary collateral arteries OMIM:617557
Ctcf-Related Neurodevelopmental Disorder
Patent ductus arteriosus, Coarctation of aorta, Mitral regurgitation, Prolonged neonatal jaundice... ORPHA:363611
Mycophenolate Mofetil Embryopathy
Coarctation of aorta ORPHA:268249
Viss Syndrome
Tortuous cerebral arteries, Epidural hemorrhage, Abnormal branching pattern of the aortic arch, A... OMIM:619472
Orofaciodigital Syndrome Vi
Coarctation of aorta OMIM:277170
Diamond-Blackfan Anemia 1
Congestive heart failure, Tricuspid stenosis, Coarctation of aorta OMIM:105650
45,X/46,Xy Mixed Gonadal Dysgenesis
Prolonged QT interval, Tachycardia, Coarctation of aorta ORPHA:1772
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Coarctation of aorta, Hypertension, Mitral regurgitation, Hypertrophic cardiomyopathy, Bilateral ... OMIM:220111
Smith-Lemli-Opitz Syndrome
Patent ductus arteriosus, Coarctation of aorta, Hypertension, Hypertrophic cardiomyopathy, Ventri... OMIM:270400
Jacobsen Syndrome
Aortic valve stenosis, Coarctation of aorta ORPHA:2308
Osteogenesis Imperfecta
Aortic regurgitation, Cerebral hemorrhage, Aortic root aneurysm, Aortic dissection, Arterial diss... ORPHA:666
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Cardiac conduction abnormality, Patent ductus arteriosus, Vascular ring, Coarctation of aorta, Pu... ORPHA:353281
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Aortic regurgitation, Patent ductus arteriosus, Coarctation of aorta, Ascending tubular aorta ane... OMIM:612474
Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities
Tetralogy of Fallot, Coarctation of aorta OMIM:618748
Thrombocytopenia-Absent Radius Syndrome
Patent ductus arteriosus, Tetralogy of Fallot, Coarctation of aorta OMIM:274000
Blomstrand Lethal Chondrodysplasia
Coarctation of aorta ORPHA:50945
Esophageal Atresia
Tetralogy of Fallot, Coarctation of aorta ORPHA:1199
Robinow Syndrome
Pulmonic stenosis, Coarctation of aorta ORPHA:97360
Diamond-Blackfan Anemia
Elevated red cell adenosine deaminase activity, Radial artery aplasia, Coarctation of aorta ORPHA:124
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Hypertension, Prolonged neonatal jaundice, Tetralogy of Fallot, Coarctation of aorta OMIM:210710
Noonan Syndrome 1
Hypertrophic cardiomyopathy, Patent ductus arteriosus, Pulmonic stenosis, Coarctation of aorta OMIM:163950
Rubinstein-Taybi Syndrome 1
Patent ductus arteriosus, Vascular ring, Coarctation of aorta, Aortic isthmus hypoplasia, Persist... OMIM:180849
8Q24.3 Microdeletion Syndrome
Gastrointestinal hemorrhage, Patent ductus arteriosus, Hypoplastic aortic arch, Coarctation of ao... ORPHA:508488
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Cardiac conduction abnormality, Patent ductus arteriosus, Vascular ring, Coarctation of aorta, Ab... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Cardiac conduction abnormality, Patent ductus arteriosus, Vascular ring, Coarctation of aorta, Ab... ORPHA:353277
Kabuki Syndrome
Coarctation of aorta ORPHA:2322
Catel-Manzke Syndrome
Overriding aorta, Coarctation of aorta OMIM:616145
Meckel Syndrome, Type 1
Patent ductus arteriosus, Vascular dilatation, Coarctation of aorta OMIM:249000
Nicolaides-Baraitser Syndrome
Coarctation of aorta OMIM:601358
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum
Patent ductus arteriosus, Coarctation of aorta OMIM:619480
Mullegama-Klein-Martinez Syndrome
Coarctation of aorta OMIM:301022
Short-Rib Thoracic Dysplasia 15 With Polydactyly
Patent ductus arteriosus, Coarctation of aorta OMIM:617088
Floating-Harbor Syndrome
Tetralogy of Fallot, Persistent left superior vena cava, Coarctation of aorta ORPHA:2044
Floating-Harbor Syndrome
Persistent left superior vena cava, Coarctation of aorta OMIM:136140
Pallister-Hall Syndrome
Patent ductus arteriosus, Coarctation of aorta ORPHA:672
Kabuki Syndrome 1
Coarctation of aorta OMIM:147920
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Pulmonary artery sling, Patent ductus arteriosus, Hyphema, Tetralogy of Fallot, Coarctation of ao... ORPHA:261552
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Pulmonary artery sling, Tetralogy of Fallot, Coarctation of aorta, Pulmonic stenosis, Aortic valv... ORPHA:261537
Mowat-Wilson Syndrome
Pulmonary artery sling, Patent ductus arteriosus, Coarctation of aorta, Pulmonic stenosis, Aortic... ORPHA:2152
Craniofacial Microsomia 1
Right aortic arch, Patent ductus arteriosus, Tetralogy of Fallot, Coarctation of aorta OMIM:164210
Pallister-Killian Syndrome
Hypertrophic cardiomyopathy, Patent ductus arteriosus, Aortic valve stenosis, Coarctation of aorta OMIM:601803

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.

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

The IMPC Newsletter

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

Subscribe to newsletter