Not currently registered for phenotyping at IMPC

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

Gene Summary

protein tyrosine phosphatase receptor type B
VE-PTP,  3230402H02Rik

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Not Significant
Not tested


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 Ptprb 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 Ptprb by phenotypic similarity.

Disease Similarity of
Matching phenotypes Source
Edema OMIM:614103
Angioedema, Hereditary, 6
Facial edema, Angioedema, Edema of the dorsum of hands OMIM:619363
Lymphatic Malformation 11
Pedal edema, Lymphedema OMIM:619401
Lymphatic Malformation 2
Lymphedema OMIM:611944
Cardiomyopathy, Dilated, 1R
Myofiber disarray, Dilated cardiomyopathy, Cardiomyocyte hypertrophy, Left ventricular noncompact... OMIM:613424
Left Ventricular Noncompaction 7
Left ventricular noncompaction, Left ventricular noncompaction cardiomyopathy OMIM:615092
Cayler Cardiofacial Syndrome
Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal defect OMIM:125520
Cardiomegaly OMIM:227150
Pulmonary Edema Of Mountaineers, Susceptibility To
Edema, Pulmonary edema OMIM:178400
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Myofiber disarray, Dilated cardiomyopathy, Cardiomyocyte hypertrophy, Left ventricular noncompact... OMIM:612158
Idiopathic Steroid-Sensitive Nephrotic Syndrome
Lymphedema ORPHA:69061
Left Ventricular Noncompaction 1
Noncompaction cardiomyopathy, Ventricular septal defect, Left ventricular noncompaction cardiomyo... OMIM:604169
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
Pulmonary Atresia-Intact Ventricular Septum Syndrome
Pulmonary artery atresia, Patent ductus arteriosus, Abnormal tricuspid valve morphology ORPHA:1208
Familial Aortic Dissection
Cardiomegaly, Descending thoracic aorta aneurysm, Patent ductus arteriosus, Descending aortic dis... ORPHA:229
Lymphatic Malformation 8
Nonimmune hydrops fetalis, Polyhydramnios, Pericardial effusion, Pleural effusion, Generalized edema OMIM:618773
Left Ventricular Noncompaction 10
Dilated cardiomyopathy, Left ventricular noncompaction OMIM:615396
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
Short stature, Ragged-red muscle fibers, Flexion contracture, Dilated cardiomyopathy, Left ventri... OMIM:252011
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Ragged-red muscle fibers, Growth delay, Generalized amyotrophy, Pallor, Hypertrophic cardiomyopathy OMIM:613561
Optic Atrophy 7 With Or Without Auditory Neuropathy
Hypertrophic cardiomyopathy, Pallor OMIM:612989
Congenital Heart Block
Pericardial effusion, Patent ductus arteriosus, Pallor, Endocardial fibroelastosis, Intrauterine ... ORPHA:60041
Left Ventricular Noncompaction 8
Dilated cardiomyopathy, Left ventricular noncompaction OMIM:615373
Combined Oxidative Phosphorylation Deficiency 31
Increased variability in muscle fiber diameter, Hypertrophic cardiomyopathy, Left ventricular non... OMIM:617228
Acute Peripheral Arterial Occlusion
Limb muscle weakness, Pallor ORPHA:90064
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Pallor ORPHA:46532
White Sponge Nevus 2
Edema OMIM:615785
Methylmalonic Acidemia With Homocystinuria, Type Cbld
Pallor ORPHA:79283
Peripheral Cone Dystrophy
Pallor OMIM:609021
Aorta Coarctation
Bicuspid aortic valve, Pseudocoarctation of the aorta, Cardiomegaly, Patent ductus arteriosus, Hy... ORPHA:1457
Combined Oxidative Phosphorylation Deficiency 20
Hypertrophic cardiomyopathy, Left ventricular noncompaction OMIM:615917
Congenitally Uncorrected Transposition Of The Great Arteries
Levotransposition of the great arteries, Hepatomegaly, Ventricular septal defect, Abnormal pulmon... ORPHA:860
Cyclic Vomiting Syndrome
Growth delay, Cardiomyopathy, Pallor OMIM:500007
Mitochondrial Complex Iv Deficiency, Nuclear Type 13
Hypertrophic cardiomyopathy, Patent ductus arteriosus, Left ventricular noncompaction OMIM:616501
Cone-Rod Dystrophy 11
Pallor OMIM:610381
Benign Paroxysmal Torticollis Of Infancy
Torticollis, Pallor ORPHA:71518
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Short stature, Pallor ORPHA:2786
Thiamine-Responsive Megaloblastic Anemia Syndrome
Atrial septal defect, Ventricular septal defect, Pallor, Short stature ORPHA:49827
Optic Atrophy 1
Pallor OMIM:165500
Cardiomyopathy, Dilated, 1I
Dilated cardiomyopathy, Cardiomegaly OMIM:604765
Myopathic Ehlers-Danlos Syndrome
Congenital muscular torticollis, Decreased muscle mass, Multiple joint contractures, Foot joint c... ORPHA:536516
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Neonatal death, Patent ductus arteriosus, Abnormal cardiac septum morphology, Coarctation of aorta OMIM:601612
Lymphatic Malformation 10
Lymphedema OMIM:619369
Dermatitis, Atopic
Dry skin, Pallor, Facial erythema OMIM:603165
Aortic Aneurysm, Familial Thoracic 4
Cystic medial necrosis, Anterior cerebral artery stenosis, Posterior cerebral artery stenosis, Bi... OMIM:132900
Ventricular Septal Defect 3
Atrial septal defect, Pulmonary artery stenosis, Patent ductus arteriosus, Ventricular septal defect OMIM:614432
Deafness, Unilateral, With Delayed Endolymphatic Hydrops
Edema OMIM:612097
Atrial Septal Defect 2
Ventricular septal defect, Dextrocardia, Patent ductus arteriosus, Pulmonic stenosis, Atrial sept... OMIM:607941
Primary Lateral Sclerosis, Juvenile
Spasticity of facial muscles, Pallor OMIM:606353
Rheumatic Fever
Pericarditis, Abnormal heart valve morphology, Myocarditis, Aplasia/Hypoplasia of the abdominal w... ORPHA:3099
Hyperinsulinism Due To Ucp2 Deficiency
Hypertrophic cardiomyopathy, Pallor ORPHA:276556
Leber Congenital Amaurosis 14
Pallor OMIM:613341
Lymphatic Malformation 7
Nonimmune hydrops fetalis, Edema, Lymphedema, Facial edema, Pericardial effusion, Increased nucha... OMIM:617300
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hypertrophic cardiomyopathy, Pallor ORPHA:276575
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hypertrophic cardiomyopathy, Pallor ORPHA:276580
Atrial Standstill
Skeletal muscle atrophy, Flexion contracture, Abnormal heart morphology, Cardiomyopathy, Left ven... ORPHA:1344
Breath-Holding Spells
Pallor OMIM:607578
Hemoglobin D Disease
Pallor ORPHA:90039
Familial Focal Epilepsy With Variable Foci
Pallor ORPHA:98820
Truncus Arteriosus
Abnormal coronary artery morphology, Anomalous origin of one pulmonary artery from ascending aort... ORPHA:3384
Hypertrophic cardiomyopathy, Pallor, Skin ulcer ORPHA:848
Mitochondrial Complex I Deficiency, Nuclear Type 39
Cardiomegaly, Perimembranous ventricular septal defect, Atrial septal defect, Intrauterine growth... OMIM:620135
Fixed Subaortic Stenosis
Bicuspid aortic valve, Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Abnorma... ORPHA:3092
Combined Oxidative Phosphorylation Deficiency 8
Neonatal death, Hypertrophic cardiomyopathy, Cardiomegaly OMIM:614096
Familial Atrial Myxoma
Cardiomegaly, Pulmonic valve myxoma, Cardiac myxoma, Dilatation of the cerebral artery, Bacterial... ORPHA:615
Acute Myelomonocytic Leukemia
Pallor ORPHA:517
Neurooculocardiogenitourinary Syndrome
Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Atrial septal defect, Patent f... OMIM:618652
Autosomal Dominant Coarctation Of Aorta
Aortic arch aneurysm, Ventricular septal defect, Patent ductus arteriosus, Abnormal aortic arch m... ORPHA:1455
Cantu Syndrome
Bicuspid aortic valve, Cardiomegaly, Pericardial effusion, Patent ductus arteriosus, Congenital h... OMIM:239850
X-Linked Sideroblastic Anemia
Pallor ORPHA:75563
Fanconi Anemia, Complementation Group I
Ventricular septal defect, Short stature, Pallor, Atrial septal defect, Intrauterine growth retar... OMIM:609053
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Pallor ORPHA:276608
Anemia, Congenital Dyserythropoietic, Type Ib
Growth delay, Short stature, Pallor OMIM:615631
Coronary Arterial Fistula
Bicuspid aortic valve, Cardiomegaly, Patent ductus arteriosus, Coronary artery aneurysm, Abnormal... ORPHA:2041
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Dilated cardiomyopathy, Left ventricular noncompaction, Neonatal death, Left ventricular hypertro... OMIM:619167
Hb Bart'S Hydrops Fetalis
Pericarditis, Pallor ORPHA:163596
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1
Scapular winging, Ragged-red muscle fibers, Generalized limb muscle atrophy, Growth delay, Pallor... OMIM:600462
Cardiomyopathy, Dilated, 1D
Left ventricular hypertrophy, Dilated cardiomyopathy, Left ventricular noncompaction OMIM:601494
Spontaneous Periodic Hypothermia
Pallor ORPHA:29822
American Trypanosomiasis
Myocarditis, Cardiomyopathy, Pallor ORPHA:3386
Hypoplastic Left Heart Syndrome
Mitral atresia, Patent ductus arteriosus, Hypoplastic aortic arch, Hypoplastic left heart, Atrial... ORPHA:2248
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Bicuspid aortic valve, Transient ischemic attack, Subarachnoid hemorrhage, Cardiomegaly, Descendi... ORPHA:91387
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature
Varicose veins, Patent ductus arteriosus, Ventricular septal defect, Peripheral arterial stenosis OMIM:126320
Heterotaxy, Visceral, 1, X-Linked
Cardiomegaly, Dextrotransposition of the great arteries, Atrial septal defect, Atrioventricular c... OMIM:306955
Cardiomyopathy, Familial Hypertrophic, 27
Cardiomegaly, Concentric hypertrophic cardiomyopathy, Ventricular septal hypertrophy, Cardiomyocy... OMIM:618052
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Cardiomegaly ORPHA:88643
Congenital Toxoplasmosis
Hepatomegaly, Intrauterine growth retardation, Cardiomegaly ORPHA:858
Timothy Syndrome
Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Tetralogy of Fallot, Patent fo... OMIM:601005
Congenital Myopathy 8
Cardiomegaly OMIM:618654
Hyperinsulinism Due To Hnf1A Deficiency
Pallor ORPHA:324575
Retinitis Pigmentosa 51
Pallor OMIM:613464
Congenital Tricuspid Valve Dysplasia
Hepatomegaly, Cardiomegaly, Pericardial effusion, Anomalous pulmonary venous return, Abnormal tri... ORPHA:555874
Idiopathic Pulmonary Hemosiderosis
Pallor, Cardiomegaly ORPHA:99931
Partial Atrioventricular Septal Defect
Bicuspid aortic valve, Transient ischemic attack, Coronary sinus enlargement, Partial atrioventri... ORPHA:1330
Scimitar Syndrome
Pulmonary artery hypoplasia, Atrial septal defect, Single ventricle, Patent ductus arteriosus, Pa... ORPHA:185
Naxos Disease
Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Cardiomega... OMIM:601214
Dravet Syndrome
Pallor ORPHA:33069
Heterotaxy, Visceral, 12, Autosomal
Dextrotransposition of the great arteries, Pulmonary artery atresia, Atrial septal defect, Patent... OMIM:619702
Craniofaciofrontodigital Syndrome
Prominent superficial veins, Anomalous branches of internal carotid artery, Bicuspid aortic valve... ORPHA:363705
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Short stature, Pallor OMIM:611590
Mulibrey Nanism
Hepatomegaly, Cardiomegaly, Myocardial fibrosis, Pericardial constriction, Intrauterine growth re... OMIM:253250
Sick Sinus Syndrome 2
Left ventricular hypertrophy, Left ventricular noncompaction, Mitral valve prolapse OMIM:163800
Pallor, Skin ulcer ORPHA:507
Evans Syndrome
Pallor, Petechiae ORPHA:1959
Double Outlet Left Ventricle
Double outlet left ventricle, Ventricular septal defect, Abnormal coronary artery course, Cardiom... ORPHA:3427
Neuraminidase Deficiency
Hepatomegaly, Bone-marrow foam cells, Cardiomegaly, Splenomegaly, Cardiomyopathy, Cherry red spot... OMIM:256550
Hereditary Spherocytosis
Growth delay, Restrictive cardiomyopathy, Pallor, Skin ulcer ORPHA:822
Ectodermal Dysplasia-Syndactyly Syndrome 2
Cardiomegaly OMIM:613576
Cardiac Diverticulum
Bicuspid aortic valve, Bicuspid pulmonary valve, Pulmonary artery hypoplasia, Atrial septal defec... ORPHA:1686
Attrv30M Amyloidosis
Cardiomyopathy, Cardiomegaly ORPHA:85447
Combined Oxidative Phosphorylation Deficiency 10
Pericardial effusion, Intrauterine growth retardation, Hypertrophic cardiomyopathy, Cardiomegaly OMIM:614702
Infantile Sialic Acid Storage Disease
Splenomegaly, Hepatomegaly, Cardiomegaly OMIM:269920
Cardiomyopathy, Familial Hypertrophic, 4
Ventricular hypertrophy, Hepatomegaly, Transient ischemic attack, Cardiomegaly, Pericardial effus... OMIM:115197
Uruguay Faciocardiomusculoskeletal Syndrome
Ventricular hypertrophy, Left atrial enlargement, Cardiomegaly, Cardiomyopathy, Left ventricular ... OMIM:300280
Primary Myelofibrosis
Ecchymosis, Pallor, Petechiae, Purpura ORPHA:824
Non-Functioning Paraganglioma
Pallor ORPHA:94080
Attrv122I Amyloidosis
Cardiomegaly, Hypertrophic cardiomyopathy, Aortic valve stenosis, Stroke, Left ventricular hypert... ORPHA:85451
Mitochondrial Complex I Deficiency, Nuclear Type 36
Perimembranous ventricular septal defect, Cardiomegaly OMIM:619170
Myopathy, Mitochondrial, And Ataxia
Short stature, Growth delay, Distal amyotrophy, Pallor, Increased variability in muscle fiber dia... OMIM:617675
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Ventricular hypertrophy, Intrauterine growth retardation, Hypertrophic cardiomyopathy, Cardiomegaly OMIM:619051
Cardiomyopathy, Dilated, 1S
Bicuspid aortic valve, Dilated cardiomyopathy, Ebstein anomaly of the tricuspid valve, Perimembra... OMIM:613426
Arterial Calcification, Generalized, Of Infancy, 1
Coronary artery calcification, Cardiomegaly, Carotid artery calcification, Dilated cardiomyopathy... OMIM:208000
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Cardiomegaly OMIM:300886
Dominant Beta-Thalassemia
Hypoplasia of the musculature, Dilated cardiomyopathy, Skin ulcer, Growth delay, Pallor, Delayed ... ORPHA:231226
Anemia, Hypochromic Microcytic, With Iron Overload 2
Growth delay, Pallor OMIM:615234
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Pallor OMIM:613839
Meacham Syndrome
Bicuspid aortic valve, Ventricular septal defect, Dextrocardia, Patent ductus arteriosus, Partial... OMIM:608978
Cantú Syndrome
Abnormal heart valve morphology, Cardiomegaly, Patent ductus arteriosus, Umbilical hernia, Hypert... ORPHA:1517
Kcnq2-Related Epileptic Encephalopathy
Pallor, Facial erythema ORPHA:439218
Long Qt Syndrome 15
Left ventricular noncompaction OMIM:616249
Carnitine Deficiency, Systemic Primary
Hepatomegaly, Cardiomegaly, Cardiomyopathy, Endocardial fibroelastosis, Hypertrophic cardiomyopathy OMIM:212140
Deafness-Lymphedema-Leukemia Syndrome
Pallor ORPHA:3226
Right Pulmonary Artery, Anomalous Origin Of, Familial
Ventricular septal defect, Patent ductus arteriosus, Coarctation of aorta, Patent foramen ovale, ... OMIM:610338
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Hepatomegaly, Cardiomegaly OMIM:619064
Acquired Idiopathic Sideroblastic Anemia
Pallor ORPHA:75564
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Hepatomegaly, Dilated cardiomyopathy, Cardiomegaly OMIM:600649
Irida Syndrome
Pallor ORPHA:209981
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency
Pallor OMIM:246450
Beta-Thalassemia Major
Hypoplasia of the musculature, Dilated cardiomyopathy, Skin ulcer, Growth delay, Pallor, Delayed ... ORPHA:231214
Pyruvate Kinase Deficiency Of Red Cells
Intrauterine growth retardation, Pallor OMIM:266200
Multisystemic Smooth Muscle Dysfunction Syndrome
Aortic arch aneurysm, Thoracic aortic aneurysm, Brachiocephalic artery aneurysm, Patent ductus ar... OMIM:613834
Drug-Induced Autoimmune Hemolytic Anemia
Pallor ORPHA:90037
Pallor, Purpura OMIM:254450
Absence Of The Pulmonary Artery
Abnormal coronary artery morphology, Cardiomegaly, Patent ductus arteriosus, Abnormal heart morph... ORPHA:980
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency
Pallor ORPHA:13
Cold Agglutinin Disease
Pallor ORPHA:56425
Arterial Calcification, Generalized, Of Infancy, 2
Right atrial enlargement, Arterial calcification, Coronary artery calcification, Cardiomegaly OMIM:614473
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, Cardiomegaly, Patent du... OMIM:300967
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Pallor ORPHA:263455
Mixed-Type Autoimmune Hemolytic Anemia
Pallor ORPHA:90036
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Ventricular septal defect, Patent ductus arteriosus, Arteria lusoria, Abnormal aortic arch morpho... ORPHA:99050
Combined Oxidative Phosphorylation Deficiency 41
Intrauterine growth retardation, Cardiomegaly OMIM:618838
Mucopolysaccharidosis, Type Iiib
Splenomegaly, Hepatomegaly, Asymmetric septal hypertrophy, Cardiomegaly OMIM:252920
Congenital Dyserythropoietic Anemia Type Iii
Short stature, Pallor ORPHA:98870
Retinitis Pigmentosa 75
Pallor OMIM:617023
Hereditary Folate Malabsorption
Skeletal muscle atrophy, Pallor ORPHA:90045
3-Hydroxy-3-Methylglutaric Aciduria
Dilated cardiomyopathy, Pallor ORPHA:20
Histiocytosis-Lymphadenopathy Plus Syndrome
Hepatomegaly, Ventricular septal defect, Cardiomegaly, Splenomegaly, Patent ductus arteriosus, He... OMIM:602782
Alpha-N-Acetylgalactosaminidase Deficiency
Cardiomegaly ORPHA:3137
Gaucher Disease, Type Iiic
Hepatomegaly, Mitral valve calcification, Cardiomegaly, Splenomegaly, Aortic valve calcification,... OMIM:231005
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Intrauterine growth retardation, Hypertrophic cardiomyopathy, Ventricular septal defect, Cardiome... OMIM:616897
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Hepatocellular necrosis, Hepatomegaly, Hypertrophic cardiomyopathy, Cardiomegaly OMIM:201475
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Vascular dilatation, Cardiomegaly OMIM:613320
Hemochromatosis, Type 1
Splenomegaly, Hepatomegaly, Cardiomyopathy, Cardiomegaly OMIM:235200
Combined Oxidative Phosphorylation Deficiency 33
Hepatomegaly, Cardiomegaly, Cardiomyopathy, Left ventricular hypertrophy, Intrauterine growth ret... OMIM:617713
Diamond-Blackfan Anemia 1
Ventricular septal defect, Tricuspid stenosis, Short stature, Small thenar eminence, Pallor, Atri... OMIM:105650
Paternal Uniparental Disomy Of Chromosome 6
Hepatomegaly, Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Umbilical hernia... ORPHA:96191
Tay-Sachs Disease
Pallor OMIM:272800
Anemia, Sideroblastic, 1
Anemic pallor OMIM:300751
Cone-Rod Dystrophy 8
Pallor OMIM:605549
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Cardiomegaly ORPHA:42
Autoimmune Hemolytic Anemia, Warm Type
Pallor ORPHA:90033
Alternating Hemiplegia Of Childhood
Cardiomyopathy, Facial hypotonia, Pallor ORPHA:2131
Beta-Thalassemia Intermedia
Pallor, Skin ulcer ORPHA:231222
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Growth delay, Pallor ORPHA:300298
Sepsis In Premature Infants
Pallor, Petechiae, Purpura ORPHA:90051
Hsd10 Disease, Infantile Type
Hypertrophic cardiomyopathy, Cardiomegaly ORPHA:391428
Senior-Loken Syndrome 8
Pallor OMIM:616307
Congenital Tracheomalacia
Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Partial anomalous pulmonary ve... ORPHA:95430
Fanconi Anemia, Complementation Group C
Ventricular septal defect, Anemic pallor, Short stature, Flexion contracture, Intrauterine growth... OMIM:227645
Fumarase Deficiency
Perimembranous ventricular septal defect, Pallor OMIM:606812
Fructose-1,6-Bisphosphatase Deficiency
Pallor ORPHA:348
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Aortic valve stenosis, Mitral valve prolapse, Abnormal atrioventricular valve morphology, Cardiom... ORPHA:324410
Fanconi Anemia, Complementation Group E
Anemic pallor, Short stature, Abnormal heart morphology OMIM:600901
Plummer-Vinson Syndrome
Pallor ORPHA:54028
Childhood Absence Epilepsy
Pallor ORPHA:64280
Sporadic Pheochromocytoma/Secreting Paraganglioma
Pallor ORPHA:276621
Isolated Right Ventricular Hypoplasia
Cardiomegaly, Muscular ventricular septal defect, Atrial septal defect, Patent foramen ovale, Rig... ORPHA:439
Fanconi Anemia, Complementation Group A
Anemic pallor, Short stature, Abnormal heart morphology OMIM:227650
Letterer-Siwe Disease
Pallor OMIM:246400
Refsum Disease, Classic
Cardiomyopathy, Cardiomegaly OMIM:266500
Beta-Ketothiolase Deficiency
Pallor ORPHA:134
Waldenström Macroglobulinemia
Pallor, Purpura ORPHA:33226
Diamond-Blackfan Anemia
Ventricular septal defect, Short stature, Abnormal heart morphology, Growth delay, Pallor, Atrial... ORPHA:124
Elliptocytosis 1
Pallor OMIM:611804
Carnitine Palmitoyltransferase I Deficiency
Hepatomegaly, Cardiomegaly OMIM:255120
Non-Functioning Pituitary Adenoma
Pallor ORPHA:91349
Esophageal Atresia
Growth delay, Tetralogy of Fallot, Ventricular septal defect, Pallor ORPHA:1199
Fanconi Anemia, Complementation Group D2
Patent ductus arteriosus, Anemic pallor, Short stature, Abnormal heart morphology OMIM:227646
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Pallor ORPHA:331206
Lethal Congenital Contracture Syndrome 10
Intrauterine growth retardation, Overriding aorta, Ventricular septal defect, Cardiomegaly OMIM:617022
Congenital Total Pulmonary Venous Return Anomaly
Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Mitral atresia, Cardiomegaly, Pa... ORPHA:99125
Pallor, Delayed puberty ORPHA:2965
Degcags Syndrome
Ventricular septal defect, Patent ductus arteriosus, Pallor, Pulmonic stenosis, Atrial septal def... OMIM:619488
Von Hippel-Lindau Disease
Myocarditis, Upper limb muscle weakness, Cardiomyopathy, Pallor, Distal lower limb muscle weakness ORPHA:892
Gaucher Disease, Perinatal Lethal
Hepatomegaly, Cardiomegaly, Splenomegaly, Hepatosplenomegaly, Neonatal death, Intrauterine growth... OMIM:608013
Pseudo-Torch Syndrome 3
Cerebral hemorrhage, Cardiomegaly OMIM:618886
Amyloidosis, Hereditary, Transthyretin-Related
Stroke-like episode, Cardiomyopathy, Cardiomegaly OMIM:105210
Idiopathic Hypereosinophilic Syndrome
Skeletal muscle atrophy, Dilated cardiomyopathy, Pallor, Myocardial eosinophilic infiltration ORPHA:3260
Pallor ORPHA:95512
Cardiac-Urogenital Syndrome
Cor triatrium sinister, Ventricular septal defect, Dextrocardia, Coronary sinus enlargement, Peri... OMIM:618280
Histiocytoid Cardiomyopathy
Ventricular septal defect, Pallor, Cardiomegaly ORPHA:137675
Imerslund-Gräsbeck Syndrome
Pallor ORPHA:35858
Sandhoff Disease
Hepatosplenomegaly, Hepatomegaly, Cherry red spot of the macula, Cardiomegaly OMIM:268800
Heterotaxy, Visceral, 5, Autosomal
Right atrial isomerism, Ventricular septal defect, Dextrocardia, Patent ductus arteriosus, Partia... OMIM:270100
Pallor ORPHA:95513
Danon Disease
Myocardial necrosis, Cardiomegaly, Dilated cardiomyopathy, Myocardial fibrosis, Hypertrophic card... OMIM:300257
Incontinentia Pigmenti
Erythema, Short stature, Pallor OMIM:308300
Familial Idiopathic Dilatation Of The Right Atrium
Hepatomegaly, Abnormal jugular vein morphology, Cardiomegaly, Right ventricular hypertrophy, Abno... ORPHA:1677
Sheehan Syndrome
Dry skin, Pallor ORPHA:91355
Beck-Fahrner Syndrome
Ventricular septal defect, Cardiomegaly OMIM:618798
Aregenerative Anemia
Pallor ORPHA:101096
Pituitary Apoplexy
Pallor ORPHA:95613
Laubry-Pezzi Syndrome
Aortic valve prolapse, Bicuspid aortic valve, Ventricular septal defect, Abnormal aortic valve cu... ORPHA:99094
Hereditary Pheochromocytoma-Paraganglioma
Pallor ORPHA:29072
Systemic Mastocytosis With Associated Hematologic Neoplasm
Pallor ORPHA:98849
Tsh-Secreting Pituitary Adenoma
Pericardial effusion, Pallor, Delayed puberty ORPHA:91347
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Hepatomegaly, Cardiomegaly, Dilated cardiomyopathy, Enlarged kidney, Antenatal intracerebral hemo... OMIM:608836
Congenital Disorder Of Glycosylation, Type It
Hepatomegaly, Ventricular septal defect, Cardiomegaly, Dilated cardiomyopathy, Coarctation of aorta OMIM:614921
Cirrhotic Cardiomyopathy
Hepatomegaly, Left atrial enlargement, Cardiomegaly, Left ventricular hypertrophy, Right atrial e... ORPHA:57777
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Bicuspid aortic valve, Ventricular septal defect, Partial atrioventricular canal defect, Cardiome... OMIM:620066
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Pallor OMIM:194380
Autosomal Recessive Malignant Osteopetrosis
Growth delay, Pallor, Abnormal pulmonary valve morphology ORPHA:667
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Pallor OMIM:300908
Developmental And Epileptic Encephalopathy 95
Hepatomegaly, Umbilical hernia, Cardiomegaly OMIM:618143
Symptomatic Form Of Hfe-Related Hemochromatosis
Splenomegaly, Hepatomegaly, Cardiomyopathy, Cardiomegaly ORPHA:465508
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Bicuspid aortic valve, Cardiomegaly, Mitral valve prolapse, Aortic root aneurysm, Atrial septal d... OMIM:245600
Complete Atrioventricular Septal Defect
Hepatomegaly, Cardiomegaly, Complete atrioventricular canal defect, Primum atrial septal defect, ... ORPHA:1329
Retinitis Pigmentosa And Erythrocytic Microcytosis
Pallor OMIM:616959
Refractory Anemia With Excess Blasts
Anemic pallor ORPHA:86839
Sickle Cell Disease
Splenomegaly, Hepatomegaly, Stroke, Cardiomegaly OMIM:603903
Hepatomegaly, Cardiomegaly, Hepatosplenomegaly, Atrial septal defect, Left ventricular hypertrophy ORPHA:79330
Lethal Acantholytic Erosive Disorder
Intrauterine growth retardation, Cardiomyopathy, Cardiomegaly ORPHA:158687
Glycogen Storage Disease Ii
Hepatomegaly, Subarachnoid hemorrhage, Cardiomegaly, Splenomegaly, Dilatation of the cerebral artery OMIM:232300
Glycogen Storage Disease Due To Acid Maltase Deficiency
Hepatomegaly, Transient ischemic attack, Thoracic aortic aneurysm, Cardiomegaly, Abnormal interna... ORPHA:365
Generalized Juvenile Polyposis/Juvenile Polyposis Coli
Growth delay, Anemic pallor ORPHA:329971
Infection-Related Hemolytic Uremic Syndrome
Myocarditis, Pallor ORPHA:544482
Pearson Marrow-Pancreas Syndrome
Erythema, Pallor OMIM:557000
Ogden Syndrome
Peripheral pulmonary artery stenosis, Bicuspid aortic valve, Left atrial enlargement, Ventricular... OMIM:300855
Hepatomegaly, Cardiomegaly ORPHA:349
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Hepatomegaly, Cardiomegaly, Renal tubular epithelial necrosis, Cardiomyopathy, Abnormal myocardiu... ORPHA:228308
Splenomegaly, Hepatomegaly, Cherry red spot of the macula, Cardiomegaly OMIM:230000
Mucolipidosis Ii Alpha/Beta
Hepatomegaly, Cardiomegaly, Myelopathy, Splenomegaly, Umbilical hernia, Hypertrophic cardiomyopat... OMIM:252500
Mucopolysaccharidosis Type 3
Hepatomegaly, Cardiomegaly, Abnormal myocardium morphology, Splenomegaly, Abnormal aortic valve m... ORPHA:581
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy
Cardiomyopathy, Cardiomegaly OMIM:619259
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Left ventricular hypertrophy, Hepatomegaly, Hypertrophic cardiomyopathy, Cardiomegaly ORPHA:308552
Glycogen Storage Disease Of Heart, Lethal Congenital
Cardiomegaly, Pericardial effusion, Increased myocardial glycogen content, Biventricular hypertro... OMIM:261740
Multiple Endocrine Neoplasia Type 2
Pallor, Proximal amyotrophy ORPHA:653
Neurodegeneration And Seizures Due To Copper Transport Defect
Cardiomegaly OMIM:620306
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Right ventricular hypertrophy, Cardiomegaly ORPHA:268
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Ventricular hypertrophy, Hepatomegaly, Cardiomegaly, Hepatosplenomegaly, Hepatocellular necrosis OMIM:618278
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome
Cardiomegaly ORPHA:2463
Liver Disease, Severe Congenital
Hepatomegaly, Ventricular septal defect, Left atrial enlargement, Cardiomegaly, Splenomegaly, Dil... OMIM:619991
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Pallor, Muscular dystrophy OMIM:253280
Williams Syndrome
Bicuspid aortic valve, Abnormal cerebral vascular morphology, Cardiomegaly, Atrial septal defect,... ORPHA:904
Aicardi-Goutières Syndrome
Cardiomegaly, Calcification of the aorta, Hepatosplenomegaly, Aortic aneurysm, Hypertrophic cardi... ORPHA:51
Bohring-Opitz Syndrome
Intrauterine growth retardation, Abnormal cardiac septum morphology, Cardiomegaly ORPHA:97297
Generalized Arterial Calcification Of Infancy
Ventricular hypertrophy, Medial calcification of large arteries, Transient ischemic attack, Coron... ORPHA:51608
Hepatomegaly, Cardiomegaly ORPHA:14
Beckwith-Wiedemann Syndrome
Hepatomegaly, Cardiomegaly, Large placenta, Splenomegaly, Umbilical hernia, Hypertrophic cardiomy... ORPHA:116
Tropical Endomyocardial Fibrosis
Hepatomegaly, Right ventricular cardiomyopathy, Left atrial enlargement, Cardiomegaly, Splenomega... ORPHA:75565
Yunis-Varon Syndrome
Ventricular septal defect, Cardiomegaly, Cardiomyopathy, Renal artery stenosis, Atrial septal def... ORPHA:3472
Beckwith-Wiedemann Syndrome
Hepatomegaly, Cardiomegaly, Pancreatic hyperplasia, Cardiomyopathy, Enlarged kidney OMIM:130650
Alpha-N-Acetylgalactosaminidase Deficiency Type 2
Cardiomegaly ORPHA:79280
Proteasome-Associated Autoinflammatory Syndrome 1
Splenomegaly, Hepatomegaly, Cardiomegaly OMIM:256040
Goodpasture Syndrome
Pallor OMIM:233450
Singleton-Merten Syndrome 1
Mitral valve calcification, Cardiomegaly, Aortic valve calcification, Subvalvular aortic stenosis... OMIM:182250


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 Ptprb

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 Ptprb.

There are 1 publication which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Targeting VE-PTP phosphatase protects the kidney from diabetic injury. The Journal of experimental medicine (March 2019) Ptprbtm2a(EUCOMM)Hmgu 30886059

Order Mouse and ES Cells

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MGI Allele Allele Type Produced
Ptprbtm2e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Ptprbtm2a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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