Not currently registered for phenotyping at IMPC

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

Gene Summary

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

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 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
phenotypes
Matching phenotypes Source
Corneal Dystrophy, Fuchs Endothelial, 3
Edema OMIM:613267
Lipedema
Edema OMIM:614103
Angioedema, Hereditary, 6
Facial edema, Angioedema, Edema of the dorsum of hands OMIM:619363
Lymphatic Malformation 11
Lymphedema, Pedal edema OMIM:619401
Lymphatic Malformation 2
Lymphedema OMIM:611944
Left Ventricular Noncompaction 7
Left ventricular noncompaction cardiomyopathy, Left ventricular noncompaction OMIM:615092
Cayler Cardiofacial Syndrome
Tetralogy of Fallot, Ventricular septal defect, Patent ductus arteriosus OMIM:125520
Ethanolaminosis
Cardiomegaly OMIM:227150
Adams-Oliver Syndrome 4
Atrial septal defect, Umbilical hernia, Ventricular septal defect, Patent ductus arteriosus OMIM:615297
Pulmonary Edema Of Mountaineers, Susceptibility To
Edema, Pulmonary edema OMIM:178400
Idiopathic Steroid-Sensitive Nephrotic Syndrome
Lymphedema ORPHA:69061
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Dilated cardiomyopathy, Left ventricular noncompaction, Left ventricular hypertrophy, Endocardial... OMIM:601493
Lymphedema-Cerebral Arteriovenous Anomaly Syndrome
Lymphedema ORPHA:86914
Cardiomyopathy, Dilated, 1R
Dilated cardiomyopathy, Left ventricular noncompaction, Left ventricular hypertrophy, Restrictive... OMIM:613424
Left Ventricular Noncompaction 10
Dilated cardiomyopathy, Left ventricular noncompaction OMIM:615396
Left Ventricular Noncompaction 1
Left ventricular noncompaction, Patent ductus arteriosus, Left ventricular noncompaction cardiomy... OMIM:604169
Chilblain Lupus 2
Edema OMIM:614415
Pulmonary Atresia-Intact Ventricular Septum Syndrome
Pulmonary artery atresia, Patent ductus arteriosus, Abnormal tricuspid valve morphology ORPHA:1208
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2
Flexion contracture, Muscular dystrophy, EMG: myopathic abnormalities, Autophagic vacuoles, Shoul... OMIM:608423
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Dilated cardiomyopathy, Left ventricular noncompaction, Endocardial fibroelastosis, Cardiomyocyte... OMIM:612158
Retinitis Pigmentosa 42
Pallor OMIM:612943
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
Dilated cardiomyopathy, Left ventricular noncompaction, Flexion contracture, Ragged-red muscle fi... OMIM:252011
Lymphatic Malformation 8
Nonimmune hydrops fetalis, Pleural effusion, Polyhydramnios, Generalized edema, Pericardial effusion OMIM:618773
Familial Aortic Dissection
Mucoid extracellular matrix accumulation, Patent ductus arteriosus, Aortic root aneurysm, Descend... ORPHA:229
Left Ventricular Noncompaction 8
Left ventricular noncompaction, Dilated cardiomyopathy, Abnormal left ventricle morphology OMIM:615373
Combined Oxidative Phosphorylation Deficiency 31
Left ventricular noncompaction, Hypertrophic cardiomyopathy OMIM:617228
Retinitis Pigmentosa 60
Pallor OMIM:613983
Patent Ductus Arteriosus 2
Patent ductus arteriosus OMIM:617035
Patent Ductus Arteriosus 3
Patent ductus arteriosus OMIM:617039
Patent Ductus Arteriosus 1
Patent ductus arteriosus OMIM:607411
Retinitis Pigmentosa 81
Pallor OMIM:617871
Optic Atrophy 9
Pallor OMIM:616289
Cardiomyopathy, Dilated, 1D
Dilated cardiomyopathy, Left ventricular noncompaction, Left ventricular hypertrophy OMIM:601494
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Pallor ORPHA:46532
White Sponge Nevus 2
Edema OMIM:615785
Acute Peripheral Arterial Occlusion
Pallor, Limb muscle weakness ORPHA:90064
Peripheral Cone Dystrophy
Pallor OMIM:609021
Optic Atrophy 7 With Or Without Auditory Neuropathy
Pallor, Hypertrophic cardiomyopathy OMIM:612989
Methylmalonic Acidemia With Homocystinuria, Type Cbld
Pallor ORPHA:79283
Retinohepatoendocrinologic Syndrome
Pallor OMIM:268040
Congenitally Uncorrected Transposition Of The Great Arteries
Abnormal pulmonary valve morphology, Abnormal aortic arch morphology, Patent ductus arteriosus, D... ORPHA:860
Cyclic Vomiting Syndrome
Pallor, Cardiomyopathy, Growth delay OMIM:500007
Benign Paroxysmal Torticollis Of Infancy
Torticollis, Pallor ORPHA:71518
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Pallor, Short stature ORPHA:2786
Cone-Rod Dystrophy 11
Pallor OMIM:610381
Thiamine-Responsive Megaloblastic Anemia Syndrome
Atrial septal defect, Short stature, Pallor, Ventricular septal defect ORPHA:49827
Mitochondrial Complex Iv Deficiency, Nuclear Type 13
Left ventricular noncompaction, Patent ductus arteriosus, Hypertrophic cardiomyopathy OMIM:616501
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Neonatal death, Coarctation of aorta, Patent ductus arteriosus, Abnormal cardiac septum morphology OMIM:601612
Myopathic Ehlers-Danlos Syndrome
Flexion contracture, Contractures involving the joints of the feet, Elbow flexion contracture, Mu... ORPHA:536516
Aorta Coarctation
Perimembranous ventricular septal defect, Tetralogy of Fallot, Cardiomegaly, Patent ductus arteri... ORPHA:1457
Optic Atrophy 1
Pallor OMIM:165500
Ventricular Septal Defect 3
Atrial septal defect, Ventricular septal defect, Pulmonary artery stenosis, Patent ductus arteriosus OMIM:614432
Auditory Neuropathy And Optic Atrophy
Pallor OMIM:617717
Dermatitis, Atopic
Pallor, Dry skin, Facial erythema OMIM:603165
Megabladder, Congenital
Patent ductus arteriosus, Atrial septal defect, Left ventricular noncompaction cardiomyopathy, Ve... OMIM:618719
Autoimmune Hemolytic Anemia, Cold Type
Pallor ORPHA:228312
Primary Lateral Sclerosis, Juvenile
Pallor, Spasticity of facial muscles OMIM:606353
Retinitis Pigmentosa 70
Pallor OMIM:615922
Lymphatic Malformation 10
Lymphedema OMIM:619369
Deafness, Unilateral, With Delayed Endolymphatic Hydrops
Edema OMIM:612097
Retinitis Pigmentosa 27
Pallor OMIM:613750
Aortic Aneurysm, Familial Thoracic 4
Posterior cerebral artery stenosis, Thoracic aortic aneurysm, Patent ductus arteriosus, Descendin... OMIM:132900
Rheumatic Fever
Abnormal heart valve morphology, Abnormal mitral valve morphology, Erythema, Myocarditis, Abnorma... ORPHA:3099
Hyperinsulinism Due To Ucp2 Deficiency
Pallor, Hypertrophic cardiomyopathy ORPHA:276556
Lymphatic Malformation 7
Nonimmune hydrops fetalis, Lymphedema, Pericardial effusion, Edema, Facial edema, Pulmonary edema OMIM:617300
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Pallor, Hypertrophic cardiomyopathy ORPHA:276575
Anemia, Hypochromic Microcytic, With Iron Overload 2
Pallor, Growth delay OMIM:615234
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Pallor, Hypertrophic cardiomyopathy ORPHA:276580
Leber Congenital Amaurosis 14
Pallor OMIM:613341
Truncus Arteriosus
Pulmonary artery hypoplasia, Single coronary artery origin, Abnormal superior vena cava morpholog... ORPHA:3384
Timothy Syndrome
Tetralogy of Fallot, Patent foramen ovale, Patent ductus arteriosus, Ventricular septal defect, C... OMIM:601005
Breath-Holding Spells
Pallor OMIM:607578
Hemoglobin D Disease
Pallor ORPHA:90039
Beta-Thalassemia
Pallor, Skin ulcer, Hypertrophic cardiomyopathy ORPHA:848
Retinitis Pigmentosa 73
Pallor OMIM:616544
Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome
Pseudocoarctation of the aorta, Bicuspid aortic valve, Patent ductus arteriosus ORPHA:228190
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Truncus arteriosus, Patent ductus arteriosus, Coarctation of aorta, Bicuspid aortic valve, Transp... OMIM:612474
Cantu Syndrome
Congenital hypertrophy of left ventricle, Patent ductus arteriosus, Bicuspid aortic valve, Cardio... OMIM:239850
Autosomal Dominant Coarctation Of Aorta
Aortic arch aneurysm, Abnormal aortic arch morphology, Patent ductus arteriosus, Hypoplastic left... ORPHA:1455
Familial Atrial Myxoma
Cardiac myxoma, Bacterial endocarditis, Dilatation of the cerebral artery, Pulmonic valve myxoma,... ORPHA:615
Fixed Subaortic Stenosis
Patent ductus arteriosus, Bacterial endocarditis, Coarctation of aorta, Pulmonic stenosis, Abnorm... ORPHA:3092
Atrial Standstill
Left ventricular noncompaction, Flexion contracture, Skeletal muscle atrophy, Muscular dystrophy,... ORPHA:1344
Acute Myelomonocytic Leukemia
Pallor ORPHA:517
Neurooculocardiogenitourinary Syndrome
Patent foramen ovale, Patent ductus arteriosus, Atrial septal defect, Ventricular septal defect, ... OMIM:618652
Fanconi Anemia, Complementation Group I
Intrauterine growth retardation, Patent foramen ovale, Atrial septal defect, Short stature, Ventr... OMIM:609053
X-Linked Sideroblastic Anemia
Pallor ORPHA:75563
Familial Focal Epilepsy With Variable Foci
Pallor ORPHA:98820
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Pallor ORPHA:276608
Anemia, Congenital Dyserythropoietic, Type Ib
Pallor, Short stature, Growth delay OMIM:615631
Coronary Arterial Fistula
Right ventricular dilatation, Patent foramen ovale, Patent ductus arteriosus, Atrial septal defec... ORPHA:2041
Ciliary Dyskinesia, Primary, 40
Patent ductus arteriosus, Unbalanced atrioventricular canal defect, Situs inversus totalis, Inter... OMIM:618300
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1
Pallor, Delayed puberty, Generalized limb muscle atrophy OMIM:600462
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Dilated cardiomyopathy, Left ventricular noncompaction, Patent foramen ovale, Neonatal death, Lef... OMIM:619167
Hb Bart'S Hydrops Fetalis
Pallor, Pericarditis ORPHA:163596
Nephronophthisis 16
Enlarged kidney, Patent ductus arteriosus, Hypertrophic cardiomyopathy, Situs inversus totalis, P... OMIM:615382
Short Stature, Developmental Delay, And Congenital Heart Defects
Atrial septal defect, Ventricular septal defect, Patent foramen ovale, Patent ductus arteriosus OMIM:617044
American Trypanosomiasis
Pallor, Cardiomyopathy, Myocarditis ORPHA:3386
Combined Oxidative Phosphorylation Deficiency 33
Cardiomegaly, Left ventricular hypertrophy, Cardiomyopathy, Hepatomegaly OMIM:617713
Spontaneous Periodic Hypothermia
Pallor ORPHA:29822
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature
Varicose veins, Peripheral arterial stenosis, Ventricular septal defect, Patent ductus arteriosus OMIM:126320
Hypoplastic Left Heart Syndrome
Patent ductus arteriosus, Atrial septal defect, Hypoplastic left heart, Mitral stenosis, Mitral a... ORPHA:2248
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Pallor OMIM:613839
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Cardiomegaly ORPHA:88643
Myopathy, Congenital, With Structured Cores And Z-Line Abnormalities
Cardiomegaly OMIM:618654
Congenital Tricuspid Valve Dysplasia
Right atrial enlargement, Abnormal tricuspid valve leaflet morphology, Intrauterine growth retard... ORPHA:555874
Congenital Toxoplasmosis
Hepatomegaly, Cardiomegaly, Intrauterine growth retardation ORPHA:858
Heterotaxy, Visceral, 1, X-Linked
Total anomalous pulmonary venous return, Dextrocardia, Double outlet right ventricle, Hypoplastic... OMIM:306955
Sick Sinus Syndrome 2
Left ventricular noncompaction, Left ventricular hypertrophy, Mitral valve prolapse OMIM:163800
Hyperinsulinism Due To Hnf1A Deficiency
Pallor ORPHA:324575
Heterotaxy, Visceral, 12, Autosomal
Single coronary artery origin, Dextrocardia, Double outlet right ventricle, Hypoplastic left hear... OMIM:619702
Mulibrey Nanism
Pericardial constriction, Intrauterine growth retardation, Hepatomegaly, Cardiomegaly, Myocardial... OMIM:253250
Scimitar Syndrome
Pulmonary artery hypoplasia, Tricuspid atresia, Dextrocardia, Double outlet right ventricle, Hypo... ORPHA:185
Idiopathic Pulmonary Hemosiderosis
Pallor, Cardiomegaly ORPHA:99931
Ectodermal Dysplasia-Syndactyly Syndrome 2
Cardiomegaly OMIM:613576
Cardiac Diverticulum
Pulmonary artery hypoplasia, Tricuspid atresia, Dextrocardia, Mitral stenosis, Ventricular septal... ORPHA:1686
Hereditary Spherocytosis
Pallor, Skin ulcer, Restrictive cardiomyopathy, Growth delay ORPHA:822
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Pallor, Short stature OMIM:611590
Neuraminidase Deficiency
Cherry red spot of the macula, Splenomegaly, Hepatomegaly, Bone-marrow foam cells, Cardiomyopathy... OMIM:256550
Partial Atrioventricular Septal Defect
Tetralogy of Fallot, Abnormal tricuspid valve morphology, Patent ductus arteriosus, Partial atrio... ORPHA:1330
Craniofaciofrontodigital Syndrome
Abnormal heart valve morphology, Prominent superficial veins, Patent ductus arteriosus, Atrial se... ORPHA:363705
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Mucoid extracellular matrix accumulation, Abdominal aortic aneurysm, Patent ductus arteriosus, Ao... ORPHA:91387
Leishmaniasis
Pallor, Skin ulcer ORPHA:507
Infantile Sialic Acid Storage Disease
Cardiomegaly, Splenomegaly, Hepatomegaly OMIM:269920
Naxos Disease
Cardiomegaly, Right ventricular cardiomyopathy, Dilated cardiomyopathy, Abnormal morphology of ri... OMIM:601214
Evans Syndrome
Pallor, Petechiae ORPHA:1959
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Cardiomegaly OMIM:300886
Attrv30M Amyloidosis
Cardiomegaly, Cardiomyopathy ORPHA:85447
Retinitis Pigmentosa 51
Pallor OMIM:613464
Cantú Syndrome
Abnormal heart valve morphology, Patent ductus arteriosus, Hypertrophic cardiomyopathy, Cardiomeg... ORPHA:1517
Primary Myelofibrosis
Pallor, Petechiae, Purpura, Ecchymosis ORPHA:824
Meacham Syndrome
Tetralogy of Fallot, Enlarged kidney, Patent ductus arteriosus, Atrial septal defect, Scimitar an... OMIM:608978
Danon Disease
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Myocardial necrosis, Cardiomegaly, Myocardia... OMIM:300257
Dravet Syndrome
Pallor ORPHA:33069
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Cardiomegaly, Hypertrophic cardiomyopathy, Intrauterine growth retardation, Ventricular hypertrophy OMIM:619051
Dominant Beta-Thalassemia
Dilated cardiomyopathy, Growth delay, Hypoplasia of the musculature, Pallor, Skin ulcer, Delayed ... ORPHA:231226
Non-Functioning Paraganglioma
Pallor ORPHA:94080
Carnitine Deficiency, Systemic Primary
Cardiomegaly, Hypertrophic cardiomyopathy, Hepatomegaly, Endocardial fibroelastosis OMIM:212140
Myopathy, Mitochondrial, And Ataxia
Increased variability in muscle fiber diameter, Growth delay, Short stature, Distal amyotrophy, P... OMIM:617675
Cardiomyopathy, Familial Hypertrophic 27
Cardiomegaly OMIM:618052
Right Pulmonary Artery, Anomalous Origin Of, Familial
Anomalous origin of right pulmonary artery from ascending aorta, Patent foramen ovale, Patent duc... OMIM:610338
Cardiomyopathy, Dilated, 1S
Interstitial cardiac fibrosis, Dilated cardiomyopathy, Left ventricular noncompaction, Bicuspid a... OMIM:613426
Myoclonus, Intractable, Neonatal
Pallor OMIM:617235
Mitochondrial Complex I Deficiency, Nuclear Type 36
Perimembranous ventricular septal defect, Cardiomegaly OMIM:619170
Cardiomyopathy, Familial Hypertrophic, 4
Hypertrophic cardiomyopathy, Hepatomegaly, Ventricular hypertrophy, Ventricular septal hypertroph... OMIM:115197
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Cardiomegaly, Hepatomegaly OMIM:619064
Kcnq2-Related Epileptic Encephalopathy
Pallor, Facial erythema ORPHA:439218
Beta-Thalassemia Major
Dilated cardiomyopathy, Growth delay, Hypoplasia of the musculature, Pallor, Skin ulcer, Delayed ... ORPHA:231214
Absence Of The Pulmonary Artery
Tetralogy of Fallot, Patent foramen ovale, Patent ductus arteriosus, Atrial septal defect, Coarct... ORPHA:980
Deafness-Lymphedema-Leukemia Syndrome
Pallor ORPHA:3226
Acquired Idiopathic Sideroblastic Anemia
Pallor ORPHA:75564
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Dilated cardiomyopathy, Cardiomegaly, Hepatomegaly OMIM:600649
Drug-Induced Autoimmune Hemolytic Anemia
Pallor ORPHA:90037
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency
Pallor OMIM:246450
Cold Agglutinin Disease
Pallor ORPHA:56425
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Left ventricular noncompaction, Patent foramen ovale, Patent ductus arteriosus, Atrial septal def... OMIM:300967
Autoimmune Hemolytic Anemia
Pallor ORPHA:98375
Irida Syndrome
Pallor ORPHA:209981
Myelofibrosis
Pallor, Purpura OMIM:254450
Mixed-Type Autoimmune Hemolytic Anemia
Pallor ORPHA:90036
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Cardiomegaly, Vascular dilatation OMIM:613320
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
Isotretinoin-Like Syndrome
Abnormal aortic arch morphology, Intrauterine growth retardation, Patent ductus arteriosus, Conot... ORPHA:2306
Combined Oxidative Phosphorylation Deficiency 41
Cardiomegaly, Intrauterine growth retardation OMIM:618838
Hyperinsulinism Due To Hnf4A Deficiency
Pallor ORPHA:263455
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency
Pallor ORPHA:13
Gaucher Disease, Type Iiic
Splenomegaly, Hepatomegaly, Calcification of the aorta, Mitral stenosis, Mitral valve calcificati... OMIM:231005
Mucopolysaccharidosis, Type Iiib
Asymmetric septal hypertrophy, Cardiomegaly, Splenomegaly, Hepatomegaly OMIM:252920
Alpha-N-Acetylgalactosaminidase Deficiency
Cardiomegaly ORPHA:3137
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy
Thoracic aortic aneurysm, Patent ductus arteriosus, Left superior vena cava draining directly to ... OMIM:619657
Attrv122I Amyloidosis
Cardiac amyloidosis, Hypertrophic cardiomyopathy, Restrictive cardiomyopathy, Cardiomegaly, Left ... ORPHA:85451
Hemochromatosis, Type 1
Cardiomegaly, Splenomegaly, Hepatomegaly, Cardiomyopathy OMIM:235200
Histiocytosis-Lymphadenopathy Plus Syndrome
Cardiomegaly, Hepatosplenomegaly, Patent ductus arteriosus, Atrial septal defect, Splenomegaly, H... OMIM:602782
Lethal Congenital Contracture Syndrome 10
Overriding aorta, Cardiomegaly, Intrauterine growth retardation, Ventricular septal defect OMIM:617022
Paternal Uniparental Disomy Of Chromosome 6
Intrauterine growth retardation, Patent ductus arteriosus, Hepatomegaly, Ventricular septal defec... ORPHA:96191
Congenital Dyserythropoietic Anemia Type Iii
Pallor, Short stature ORPHA:98870
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Cardiomegaly, Hypertrophic cardiomyopathy, Hepatomegaly, Hepatocellular necrosis OMIM:201475
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Cardiomegaly, Hypertrophic cardiomyopathy, Intrauterine growth retardation, Ventricular septal de... OMIM:616897
Retinitis Pigmentosa 75
Pallor OMIM:617023
Senior-Loken Syndrome 8
Pallor OMIM:616307
Hereditary Folate Malabsorption
Pallor, Skeletal muscle atrophy ORPHA:90045
3-Hydroxy-3-Methylglutaric Aciduria
Pallor, Dilated cardiomyopathy ORPHA:20
Autoimmune Hemolytic Anemia, Warm Type
Pallor ORPHA:90033
Carnitine Palmitoyltransferase I Deficiency
Cardiomegaly, Hepatomegaly OMIM:255120
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Cardiomegaly, Hepatomegaly ORPHA:42
Refsum Disease, Classic
Cardiomegaly, Cardiomyopathy OMIM:266500
Tay-Sachs Disease
Pallor OMIM:272800
Congenital Tracheomalacia
Tetralogy of Fallot, Cardiomegaly, Patent ductus arteriosus, Atrial septal defect, Partial anomal... ORPHA:95430
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Pallor, Growth delay ORPHA:300298
Rare Circulatory System Disease
Pallor, Elbow flexion contracture ORPHA:98028
Fanconi Anemia, Complementation Group C
Anemic pallor, Flexion contracture, Intrauterine growth retardation, Short stature, Ventricular s... OMIM:227645
Cone-Rod Dystrophy 8
Pallor OMIM:605549
Hsd10 Disease, Infantile Type
Cardiomegaly, Hypertrophic cardiomyopathy ORPHA:391428
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Aortic valve stenosis, Cardiomegaly, Mitral valve prolapse, Abnormal atrioventricular valve morph... ORPHA:324410
Diamond-Blackfan Anemia 1
Intrauterine growth retardation, Atrial septal defect, Tricuspid stenosis, Short stature, Ventric... OMIM:105650
Alternating Hemiplegia Of Childhood
Pallor, Cardiomyopathy, Facial hypotonia ORPHA:2131
Sepsis In Premature Infants
Pallor, Petechiae, Purpura ORPHA:90051
Cardiac-Urogenital Syndrome
Tetralogy of Fallot, Patent ductus arteriosus, Atrial septal defect, Dysplastic tricuspid valve, ... OMIM:618280
Fumarase Deficiency
Pallor OMIM:606812
Fanconi Anemia, Complementation Group E
Abnormal heart morphology, Short stature, Anemic pallor OMIM:600901
Fructose-1,6-Bisphosphatase Deficiency
Pallor ORPHA:348
Elliptocytosis 1
Pallor OMIM:611804
Fanconi Anemia, Complementation Group A
Abnormal heart morphology, Short stature, Anemic pallor OMIM:227650
Sporadic Pheochromocytoma/Secreting Paraganglioma
Pallor ORPHA:276621
Amyloidosis, Hereditary, Transthyretin-Related
Cardiomegaly, Cardiomyopathy OMIM:105210
Beta-Thalassemia Intermedia
Pallor, Skin ulcer ORPHA:231222
Plummer-Vinson Syndrome
Pallor ORPHA:54028
Congenital Total Pulmonary Venous Return Anomaly
Patent ductus arteriosus, Supracardiac total anomalous pulmonary venous connection, Atrial septal... ORPHA:99125
Letterer-Siwe Disease
Pallor OMIM:246400
Gaucher Disease, Perinatal Lethal
Hepatosplenomegaly, Intrauterine growth retardation, Splenomegaly, Hepatomegaly, Neonatal death, ... OMIM:608013
Isolated Right Ventricular Hypoplasia
Right atrial enlargement, Patent foramen ovale, Atrial septal defect, Muscular ventricular septal... ORPHA:439
Childhood Absence Epilepsy
Pallor ORPHA:64280
Fanconi Anemia, Complementation Group D2
Abnormal heart morphology, Short stature, Anemic pallor, Patent ductus arteriosus OMIM:227646
Blackfan-Diamond Anemia
Atrial septal defect, Abnormality of the thenar eminence, Growth delay, Abnormal heart morphology... ORPHA:124
Non-Functioning Pituitary Adenoma
Pallor ORPHA:91349
Waldenström Macroglobulinemia
Pallor, Purpura ORPHA:33226
Degcags Syndrome
Intrauterine growth retardation, Patent foramen ovale, Patent ductus arteriosus, Atrial septal de... OMIM:619488
Meacham Syndrome
Tetralogy of Fallot, Patent ductus arteriosus, Conotruncal defect, Atrial septal defect, Coarctat... ORPHA:3097
Prolactinoma
Pallor, Delayed puberty ORPHA:2965
Beta-Ketothiolase Deficiency
Pallor ORPHA:134
Familial Idiopathic Dilatation Of The Right Atrium
Right atrial enlargement, Hepatomegaly, Abnormal vena cava morphology, Atrial septal dilatation, ... ORPHA:1677
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Pallor ORPHA:331206
Von Hippel-Lindau Disease
Pallor, Myocarditis, Upper limb muscle weakness, Cardiomyopathy, Distal lower limb muscle weakness ORPHA:892
Heart Defects, Congenital, And Other Congenital Anomalies
Truncus arteriosus, Tetralogy of Fallot, Intrauterine growth retardation, Patent ductus arteriosu... OMIM:600001
Esophageal Atresia
Pallor, Tetralogy of Fallot, Growth delay, Ventricular septal defect ORPHA:1199
Laubry-Pezzi Syndrome
Perimembranous ventricular septal defect, Abnormal aortic valve cusp morphology, Patent ductus ar... ORPHA:99094
Imerslund-Gräsbeck Syndrome
Pallor ORPHA:35858
Glycogen Storage Disease Ii
Cardiomegaly, Dilatation of the cerebral artery, Splenomegaly, Hepatomegaly OMIM:232300
Idiopathic Hypereosinophilic Syndrome
Pallor, Dilated cardiomyopathy, Myocardial eosinophilic infiltration, Skeletal muscle atrophy ORPHA:3260
Symptomatic Form Of Hemochromatosis Type 1
Cardiomegaly, Splenomegaly, Hepatomegaly, Cardiomyopathy ORPHA:465508
Leigh Syndrome With Nephrotic Syndrome
Cardiomegaly, Intrauterine growth retardation ORPHA:255249
Incontinentia Pigmenti
Pallor, Short stature, Erythema OMIM:308300
Beck-Fahrner Syndrome
Cardiomegaly, Ventricular septal defect OMIM:618798
Sheehan Syndrome
Pallor, Dry skin ORPHA:91355
Aregenerative Anemia
Pallor ORPHA:101096
Pituitary Apoplexy
Pallor ORPHA:95613
Systemic Mastocytosis With Associated Hematologic Neoplasm
Pallor ORPHA:98849
Adenohypophysitis
Pallor ORPHA:95512
Sandhoff Disease
Cherry red spot of the macula, Cardiomegaly, Hepatosplenomegaly, Hepatomegaly OMIM:268800
Histiocytoid Cardiomyopathy
Pallor, Cardiomegaly, Ventricular septal defect ORPHA:137675
Complete Atrioventricular Septal Defect
Complete atrioventricular canal defect, Displacement of the papillary muscles, Abnormal cardiac a... ORPHA:1329
Thoracoabdominal Syndrome
Anencephaly, Ectopia cordis, Patent ductus arteriosus, Transposition of the great arteries OMIM:313850
Mucolipidosis Ii Alpha/Beta
Hypertrophic cardiomyopathy, Splenomegaly, Hepatomegaly, Myelopathy, Cardiomegaly, Umbilical hernia OMIM:252500
Heterotaxy, Visceral, 5, Autosomal
Right atrial isomerism, Total anomalous pulmonary venous return, Patent ductus arteriosus, Intrau... OMIM:270100
Tsh-Secreting Pituitary Adenoma
Pallor, Delayed puberty, Pericardial effusion ORPHA:91347
Panhypophysitis
Pallor ORPHA:95513
Congenital Disorder Of Glycosylation, Type It
Dilated cardiomyopathy, Hepatomegaly, Coarctation of aorta, Ventricular septal defect, Cardiomegaly OMIM:614921
Developmental And Epileptic Encephalopathy 95
Cardiomegaly, Umbilical hernia, Hepatomegaly OMIM:618143
Autosomal Recessive Malignant Osteopetrosis
Abnormal pulmonary valve morphology, Pallor, Growth delay ORPHA:667
Hereditary Pheochromocytoma-Paraganglioma
Pallor ORPHA:29072
Retinitis Pigmentosa And Erythrocytic Microcytosis
Pallor OMIM:616959
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Pallor OMIM:300908
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Pallor OMIM:194380
Congenitally Corrected Transposition Of The Great Arteries
Mesocardia, Abnormal aortic valve cusp morphology, Dextrocardia, Single ventricle, Ventricular se... ORPHA:216694
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Cardiomegaly, Enlarged kidney, Dilated cardiomyopathy, Hepatomegaly OMIM:608836
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Patent foramen ovale, Aortic root aneurysm, Atrial septal defect, Bicuspid aortic valve, Cardiome... OMIM:245600
Cirrhotic Cardiomyopathy
Right atrial enlargement, Hepatomegaly, Cardiomegaly, Left ventricular hypertrophy, Left atrial e... ORPHA:57777
Mogs-Cdg
Hepatosplenomegaly, Atrial septal defect, Hepatomegaly, Cardiomegaly, Left ventricular hypertrophy ORPHA:79330
Glycogen Storage Disease Of Heart, Lethal Congenital
Biventricular hypertrophy, Cardiomegaly, Cardiomyopathy OMIM:261740
Craniofaciofrontodigital Syndrome
Cardiomegaly, Abnormal heart morphology OMIM:114620
Fucosidosis
Cardiomegaly, Hepatomegaly ORPHA:349
Refractory Anemia With Excess Blasts
Anemic pallor ORPHA:86839
Lethal Acantholytic Erosive Disorder
Cardiomegaly, Cardiomyopathy, Intrauterine growth retardation ORPHA:158687
Infection-Related Hemolytic Uremic Syndrome
Pallor, Myocarditis ORPHA:544482
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Abnormal myocardium morphology, Hepatomegaly, Cardiomyopathy, Cardiomegaly, Renal tubular epithel... ORPHA:228308
Pseudo-Torch Syndrome 3
Cardiomegaly OMIM:618886
Fucosidosis
Cardiomegaly, Splenomegaly, Hepatomegaly OMIM:230000
Mucopolysaccharidosis Type 3
Abnormal myocardium morphology, Abnormal mitral valve morphology, Splenomegaly, Abnormal aortic v... ORPHA:581
Generalized Juvenile Polyposis/Juvenile Polyposis Coli
Anemic pallor, Growth delay ORPHA:329971
Pearson Marrow-Pancreas Syndrome
Pallor, Erythema OMIM:557000
Glycogen Storage Disease Due To Acid Maltase Deficiency
Thoracic aortic aneurysm, Abnormal internal carotid artery morphology, Hypertrophic cardiomyopath... ORPHA:365
Sickle Cell Anemia
Cardiomegaly, Splenomegaly, Hepatomegaly OMIM:603903
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy
Cardiomegaly, Cardiomyopathy OMIM:619259
Multiple Endocrine Neoplasia Type 2
Pallor, Proximal amyotrophy ORPHA:653
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Cardiomegaly, Left ventricular hypertrophy, Hepatomegaly, Hypertrophic cardiomyopathy ORPHA:308552
Aicardi-Goutières Syndrome
Moyamoya phenomenon, Hepatosplenomegaly, Hypertrophic cardiomyopathy, Calcification of the aorta,... ORPHA:51
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Hepatosplenomegaly, Hepatomegaly, Hepatocellular necrosis, Ventricular hypertrophy, Cardiomegaly OMIM:618278
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Cardiomegaly, Right ventricular hypertrophy ORPHA:268
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome
Cardiomegaly ORPHA:2463
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Pallor, Muscular dystrophy OMIM:253280
Bohring-Opitz Syndrome
Cardiomegaly, Intrauterine growth retardation, Abnormal cardiac septum morphology ORPHA:97297
Williams Syndrome
Aortic arch aneurysm, Overriding aorta, Tetralogy of Fallot, Abnormal endocardium morphology, Pat... ORPHA:904
Beckwith-Wiedemann Syndrome
Enlarged kidney, Hypertrophic cardiomyopathy, Splenomegaly, Hepatomegaly, Visceromegaly, Large pl... ORPHA:116
Abetalipoproteinemia
Cardiomegaly, Hepatomegaly ORPHA:14
Yunis-Varon Syndrome
Tetralogy of Fallot, Atrial septal defect, Cardiomyopathy, Ventricular septal defect, Cardiomegal... ORPHA:3472
Tropical Endomyocardial Fibrosis
Coronary artery stenosis, Myocardial calcification, Splenomegaly, Hepatomegaly, Restrictive cardi... ORPHA:75565
Generalized Arterial Calcification Of Infancy
Abnormal retinal artery morphology, Medial calcification of large arteries, Myocardial calcificat... ORPHA:51608
Beckwith-Wiedemann Syndrome
Enlarged kidney, Pancreatic hyperplasia, Hepatomegaly, Cardiomyopathy, Cardiomegaly OMIM:130650
Alpha-N-Acetylgalactosaminidase Deficiency Type 2
Cardiomegaly ORPHA:79280
Proteasome-Associated Autoinflammatory Syndrome 1
Cardiomegaly, Splenomegaly, Hepatomegaly OMIM:256040
Singleton-Merten Syndrome 1
Subvalvular aortic stenosis, Mitral valve calcification, Aortic arch calcification, Cardiomegaly,... OMIM:182250
Goodpasture Syndrome
Pallor OMIM:233450

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 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

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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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