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Gene: Ptprb MGI:97809

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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

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 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
Lipedema
Edema OMIM:614103
Angioedema, Hereditary, 6
Facial edema, Edema of the dorsum of hands, Angioedema OMIM:619363
Lymphatic Malformation 11
Pedal edema, Lymphedema OMIM:619401
Lymphatic Malformation 14
Lymphedema OMIM:620602
Lymphatic Malformation 2
Lymphedema OMIM:611944
Cardiomyopathy, Dilated, 1R
Restrictive cardiomyopathy, Dilated cardiomyopathy, Cardiomyocyte hypertrophy, Left ventricular n... OMIM:613424
Cayler Cardiofacial Syndrome
Tetralogy of Fallot, Patent ductus arteriosus, Ventricular septal defect OMIM:125520
Left Ventricular Noncompaction 7
Left ventricular noncompaction, Left ventricular noncompaction cardiomyopathy OMIM:615092
Ethanolaminosis
Cardiomegaly OMIM:227150
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Dilated cardiomyopathy, Endocardial fibrosis, Cardiomyocyte hypertrophy, Hypertrophic cardiomyopa... OMIM:612158
Pulmonary Edema Of Mountaineers, Susceptibility To
Pulmonary edema, Edema OMIM:178400
Idiopathic Steroid-Sensitive Nephrotic Syndrome
Lymphedema ORPHA:69061
Left Ventricular Noncompaction 1
Hypoplastic left heart, Left ventricular noncompaction, Left ventricular noncompaction cardiomyop... OMIM:604169
Cardiomyopathy, Dilated, 1Gg
Left ventricular noncompaction, Dilated cardiomyopathy OMIM:613642
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Left ventricular noncompaction, Left ventricular hypertrophy, Dilated cardiomyopathy, Endocardial... OMIM:601493
Pulmonary Atresia-Intact Ventricular Septum Syndrome
Pulmonary artery atresia, Abnormal tricuspid valve morphology, Patent ductus arteriosus ORPHA:1208
Familial Aortic Dissection
Descending thoracic aorta aneurysm, Aortic root aneurysm, Aortic dissection, Mucoid extracellular... ORPHA:229
Left Ventricular Noncompaction 10
Left ventricular noncompaction, Dilated cardiomyopathy OMIM:615396
Lymphatic Malformation 8
Generalized edema, Pleural effusion, Nonimmune hydrops fetalis, Polyhydramnios, Pericardial effusion OMIM:618773
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
Dilated cardiomyopathy, Left ventricular noncompaction, Hypertrophic cardiomyopathy, Ragged-red m... OMIM:252011
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Hypertrophic cardiomyopathy, Pallor, Ragged-red muscle fibers, Growth delay, Generalized amyotrophy OMIM:613561
Patent Ductus Arteriosus 3
Patent ductus arteriosus OMIM:617039
Patent Ductus Arteriosus 1
Patent ductus arteriosus OMIM:607411
Optic Atrophy 7 With Or Without Auditory Neuropathy
Hypertrophic cardiomyopathy, Pallor OMIM:612989
Left Ventricular Noncompaction 8
Left ventricular noncompaction, Dilated cardiomyopathy OMIM:615373
Adams-Oliver Syndrome 4
Patent ductus arteriosus, Ventricular septal defect, Atrial septal defect, Umbilical hernia OMIM:615297
Congenital Heart Block
Intrauterine growth retardation, Endocardial fibroelastosis, Pallor, Patent foramen ovale, Perica... ORPHA:60041
Combined Oxidative Phosphorylation Deficiency 31
Left ventricular noncompaction, Increased variability in muscle fiber diameter, Increased intramy... OMIM:617228
Acute Peripheral Arterial Occlusion
Pallor, Limb muscle weakness 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
Mitochondrial Complex Iv Deficiency, Nuclear Type 13
Hypertrophic cardiomyopathy, Left ventricular noncompaction, Patent ductus arteriosus OMIM:616501
Cyclic Vomiting Syndrome
Pallor, Growth delay, Cardiomyopathy OMIM:500007
Combined Oxidative Phosphorylation Deficiency 20
Left ventricular noncompaction, Hypertrophic cardiomyopathy OMIM:615917
Aorta Coarctation
Hypoplastic left heart, Tetralogy of Fallot, Coronary artery atherosclerosis, Cardiomegaly, Bicus... ORPHA:1457
Congenitally Uncorrected Transposition Of The Great Arteries
Interrupted aortic arch, Abnormal aortic arch morphology, Abnormal coronary artery morphology, Bi... ORPHA:860
Cone-Rod Dystrophy 11
Pallor OMIM:610381
Benign Paroxysmal Torticollis Of Infancy
Pallor, Torticollis ORPHA:71518
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Short stature, Pallor ORPHA:2786
Thiamine-Responsive Megaloblastic Anemia Syndrome
Short stature, Pallor, Atrial septal defect, Ventricular septal defect ORPHA:49827
Cardiomyopathy, Dilated, 1I
Cardiomegaly, Dilated cardiomyopathy OMIM:604765
Myopathic Ehlers-Danlos Syndrome
Increased variability in muscle fiber diameter, Joint contracture of the hand, Ankle flexion cont... ORPHA:536516
Megabladder, Congenital
Left ventricular noncompaction cardiomyopathy, Ventricular septal defect, Bicuspid aortic valve, ... OMIM:618719
Lymphatic Malformation 10
Lymphedema OMIM:619369
Dermatitis, Atopic
Dry skin, Facial erythema, Pallor OMIM:603165
Ventricular Septal Defect 3
Pulmonary artery stenosis, Patent ductus arteriosus, Atrial septal defect, Ventricular septal defect OMIM:614432
Aortic Aneurysm, Familial Thoracic 4
Aortic dissection, Anterior cerebral artery stenosis, Coronary artery atherosclerosis, Stroke, Bi... OMIM:132900
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Coarctation of aorta, Patent ductus arteriosus, Abnormal cardiac septum morphology, Neonatal death OMIM:601612
Atrial Septal Defect 2
Atrioventricular canal defect, Ventricular septal defect, Atrial septal defect, Dextrocardia, Pat... OMIM:607941
Deafness, Unilateral, With Delayed Endolymphatic Hydrops
Edema OMIM:612097
Primary Lateral Sclerosis, Juvenile
Spasticity of facial muscles, Pallor OMIM:606353
Leber Congenital Amaurosis 14
Pallor OMIM:613341
Hyperinsulinism Due To Ucp2 Deficiency
Hypertrophic cardiomyopathy, Pallor ORPHA:276556
Rheumatic Fever
Erythema, Abnormal heart valve morphology, Pallor, Abnormal aortic valve morphology, Abnormal mit... ORPHA:3099
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
Optic Atrophy 1
Pallor OMIM:165500
Atrial Standstill
Muscular dystrophy, Skeletal muscle atrophy, Cardiomyopathy, Left ventricular noncompaction, Abno... ORPHA:1344
Lymphatic Malformation 7
Facial edema, Chylothorax, Lymphedema, Ascites, Increased nuchal translucency, Pleural effusion, ... OMIM:617300
Breath-Holding Spells
Pallor OMIM:607578
Familial Focal Epilepsy With Variable Foci
Pallor ORPHA:98820
Mitochondrial Complex I Deficiency, Nuclear Type 39
Hypertrophic cardiomyopathy, Intrauterine growth retardation, Cardiomegaly, Perimembranous ventri... OMIM:620135
Ciliary Dyskinesia, Primary, 40
Unbalanced atrioventricular canal defect, Atrioventricular canal defect, Congenitally corrected t... OMIM:618300
Hemoglobin D Disease
Pallor ORPHA:90039
Beta-Thalassemia
Hypertrophic cardiomyopathy, Pallor, Skin ulcer ORPHA:848
Fixed Subaortic Stenosis
Bacterial endocarditis, Abnormal heart morphology, Atrioventricular canal defect, Ventricular sep... ORPHA:3092
Truncus Arteriosus
Abnormal coronary artery morphology, Ventricular septal defect, Single coronary artery origin, At... ORPHA:3384
Autosomal Dominant Coarctation Of Aorta
Hypoplastic left heart, Abnormal aortic arch morphology, Aortic arch aneurysm, Ventricular septal... ORPHA:1455
Combined Oxidative Phosphorylation Deficiency 8
Hypertrophic cardiomyopathy, Cardiomegaly, Neonatal death OMIM:614096
Neurooculocardiogenitourinary Syndrome
Patent foramen ovale, Ventricular septal defect, Cardiomegaly, Atrial septal defect, Patent ductu... OMIM:618652
Familial Atrial Myxoma
Pulmonic valve myxoma, Bacterial endocarditis, Dilatation of the cerebral artery, Cardiomegaly, C... ORPHA:615
Acute Myelomonocytic Leukemia
Pallor ORPHA:517
Cantu Syndrome
Congenital hypertrophy of left ventricle, Umbilical hernia, Cardiomegaly, Bicuspid aortic valve, ... OMIM:239850
X-Linked Sideroblastic Anemia
Pallor ORPHA:75563
Fanconi Anemia, Complementation Group I
Intrauterine growth retardation, Pallor, Patent foramen ovale, Ventricular septal defect, Atrial ... OMIM:609053
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Pallor ORPHA:276608
Anemia, Congenital Dyserythropoietic, Type Ib
Short stature, Growth delay, Pallor OMIM:615631
Coronary Arterial Fistula
Aortic valve stenosis, Bacterial endocarditis, Abnormal heart morphology, Patent foramen ovale, C... ORPHA:2041
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Dilated cardiomyopathy, Left ventricular noncompaction, Patent foramen ovale, Neonatal death, Lef... OMIM:619167
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1
Generalized limb muscle atrophy, Pallor, Ragged-red muscle fibers, Delayed puberty, Scapular wing... OMIM:600462
Hb Bart'S Hydrops Fetalis
Pallor, Pericarditis ORPHA:163596
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature
Peripheral arterial stenosis, Varicose veins, Patent ductus arteriosus, Ventricular septal defect OMIM:126320
Hypoplastic Left Heart Syndrome
Hypoplastic left heart, Mitral atresia, Mitral stenosis, Atrial septal defect, Hypoplastic aortic... ORPHA:2248
Spontaneous Periodic Hypothermia
Pallor ORPHA:29822
American Trypanosomiasis
Myocarditis, Pallor, Cardiomyopathy ORPHA:3386
Cardiomyopathy, Dilated, 1D
Left ventricular noncompaction, Left ventricular hypertrophy, Dilated cardiomyopathy OMIM:601494
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Descending thoracic aorta aneurysm, Aortic root aneurysm, Mucoid extracellular matrix accumulatio... ORPHA:91387
Heterotaxy, Visceral, 1, X-Linked
Ventricular septal defect, Atrial septal defect, Dextrocardia, Single ventricle, Hepatomegaly, Le... OMIM:306955
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Cardiomegaly ORPHA:88643
Cardiomyopathy, Familial Hypertrophic, 27
Cardiomyocyte hypertrophy, Hypertrophic cardiomyopathy, Concentric hypertrophic cardiomyopathy, E... OMIM:618052
Timothy Syndrome
Tetralogy of Fallot, Patent foramen ovale, Ventricular septal defect, Cardiomegaly, Patent ductus... OMIM:601005
Congenital Toxoplasmosis
Hepatomegaly, Intrauterine growth retardation, Cardiomegaly ORPHA:858
Congenital Myopathy 8
Cardiomegaly OMIM:618654
Retinitis Pigmentosa 51
Pallor OMIM:613464
Hyperinsulinism Due To Hnf1A Deficiency
Pallor ORPHA:324575
Congenital Tricuspid Valve Dysplasia
Intrauterine growth retardation, Abnormal tricuspid valve annulus morphology, Patent foramen oval... ORPHA:555874
Idiopathic Pulmonary Hemosiderosis
Cardiomegaly, Pallor ORPHA:99931
Scimitar Syndrome
Anomalous origin of left coronary artery from the pulmonary artery, Ventricular septal defect, At... ORPHA:185
Partial Atrioventricular Septal Defect
Aortic valve stenosis, Hypoplastic left heart, Bacterial endocarditis, Coronary sinus enlargement... ORPHA:1330
Dravet Syndrome
Pallor ORPHA:33069
Naxos Disease
Dilated cardiomyopathy, Abnormal heart morphology, Right ventricular cardiomyopathy, Cardiomegaly... OMIM:601214
Evans Syndrome
Pallor, Petechiae ORPHA:1959
Sick Sinus Syndrome 2
Left ventricular noncompaction, Left ventricular hypertrophy, Mitral valve prolapse OMIM:163800
Heterotaxy, Visceral, 12, Autosomal
Ventricular septal defect, Discordant atrioventricular connection, Single coronary artery origin,... OMIM:619702
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Short stature, Pallor OMIM:611590
Craniofaciofrontodigital Syndrome
Aortic valve stenosis, Abnormal cerebral vascular morphology, Abnormal heart valve morphology, Di... ORPHA:363705
Leishmaniasis
Pallor, Skin ulcer ORPHA:507
Cardiac Diverticulum
Aortic valve stenosis, Mitral valve prolapse, Ventricular septal defect, Bicuspid aortic valve, A... ORPHA:1686
Mulibrey Nanism
Intrauterine growth retardation, Cardiomegaly, Pericardial constriction, Hepatomegaly, Myocardial... OMIM:253250
Neuraminidase Deficiency
Cardiomyopathy, Cherry red spot of the macula, Splenomegaly, Cardiomegaly, Hepatomegaly, Bone-mar... OMIM:256550
Primary Myelofibrosis
Purpura, Petechiae, Pallor, Ecchymosis ORPHA:824
Attrv30M Amyloidosis
Cardiomegaly, Cardiomyopathy ORPHA:85447
Double Outlet Left Ventricle
Ventricular septal defect, Cardiomegaly, Bicuspid pulmonary valve, Pulmonary artery stenosis, Pul... ORPHA:3427
Cardiomyopathy, Familial Hypertrophic, 4
Ventricular hypertrophy, Hypertrophic cardiomyopathy, Muscular ventricular septal defect, Transie... OMIM:115197
Hereditary Spherocytosis
Restrictive cardiomyopathy, Growth delay, Skin ulcer, Pallor ORPHA:822
Combined Oxidative Phosphorylation Deficiency 10
Hypertrophic cardiomyopathy, Intrauterine growth retardation, Cardiomegaly, Pericardial effusion OMIM:614702
Ectodermal Dysplasia-Syndactyly Syndrome 2
Cardiomegaly OMIM:613576
Infantile Sialic Acid Storage Disease
Hepatomegaly, Cardiomegaly, Splenomegaly OMIM:269920
Uruguay Faciocardiomusculoskeletal Syndrome
Ventricular hypertrophy, Cardiomyopathy, Hypertrophic cardiomyopathy, Cardiomegaly, Left atrial e... OMIM:300280
Mitochondrial Complex I Deficiency, Nuclear Type 36
Cardiomegaly, Perimembranous ventricular septal defect OMIM:619170
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Hypertrophic cardiomyopathy, Ventricular hypertrophy, Intrauterine growth retardation, Cardiomegaly OMIM:619051
Non-Functioning Paraganglioma
Pallor ORPHA:94080
Ciliary Dyskinesia, Primary, 53
Situs inversus totalis, Right aortic arch, Patent foramen ovale, Cardiomegaly, Persistent left su... OMIM:620642
Attrv122I Amyloidosis
Aortic valve stenosis, Restrictive cardiomyopathy, Hypertrophic cardiomyopathy, Cardiomegaly, Str... ORPHA:85451
Dominant Beta-Thalassemia
Hypoplasia of the musculature, Dilated cardiomyopathy, Skin ulcer, Pallor, Delayed puberty, Growt... ORPHA:231226
Myopathy, Mitochondrial, And Ataxia
Increased variability in muscle fiber diameter, Distal amyotrophy, Pallor, Short stature, Growth ... OMIM:617675
Cardiomyopathy, Dilated, 1S
Dilated cardiomyopathy, Left ventricular noncompaction, Interstitial cardiac fibrosis, Bicuspid a... OMIM:613426
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Cardiomegaly OMIM:300886
Arterial Calcification, Generalized, Of Infancy, 1
Dilated cardiomyopathy, Arterial stenosis, Carotid artery calcification, Renal artery stenosis, C... OMIM:208000
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Pallor OMIM:613839
Meacham Syndrome
Hypoplastic left heart, Stillbirth, Tetralogy of Fallot, Scimitar anomaly, Right aortic arch, Ven... OMIM:608978
Kcnq2-Related Epileptic Encephalopathy
Facial erythema, Pallor ORPHA:439218
Long Qt Syndrome 15
Left ventricular noncompaction OMIM:616249
Cantú Syndrome
Umbilical hernia, Hypertrophic cardiomyopathy, Abnormal heart valve morphology, Cardiomegaly, Pat... ORPHA:1517
Anemia, Hypochromic Microcytic, With Iron Overload 2
Growth delay, Pallor OMIM:615234
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Cardiomegaly, Hepatomegaly, Dilated cardiomyopathy OMIM:600649
Deafness-Lymphedema-Leukemia Syndrome
Pallor ORPHA:3226
Carnitine Deficiency, Systemic Primary
Cardiomyopathy, Hypertrophic cardiomyopathy, Endocardial fibroelastosis, Cardiomegaly, Hepatomegaly OMIM:212140
Acquired Idiopathic Sideroblastic Anemia
Pallor ORPHA:75564
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Hepatomegaly, Cardiomegaly OMIM:619064
Right Pulmonary Artery, Anomalous Origin Of, Familial
Patent foramen ovale, Ventricular septal defect, Coarctation of aorta, Patent ductus arteriosus, ... OMIM:610338
Beta-Thalassemia Major
Hypoplasia of the musculature, Dilated cardiomyopathy, Skin ulcer, Pallor, Delayed puberty, Growt... ORPHA:231214
Pyruvate Kinase Deficiency Of Red Cells
Intrauterine growth retardation, Pallor OMIM:266200
Ciliary Dyskinesia, Primary, 52
Hypoplastic left heart, Total anomalous pulmonary venous return, Mitral atresia, Situs inversus t... OMIM:620570
Irida Syndrome
Pallor ORPHA:209981
Absence Of The Pulmonary Artery
Abnormal coronary artery morphology, Abnormal heart morphology, Tetralogy of Fallot, Abnormal inf... ORPHA:980
Drug-Induced Autoimmune Hemolytic Anemia
Pallor ORPHA:90037
Cold Agglutinin Disease
Pallor ORPHA:56425
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency
Pallor ORPHA:13
Smooth Muscle Dysfunction Syndrome
Pulmonary artery dilatation, Dilatation of the cerebral artery, Aortic arch aneurysm, Common caro... OMIM:613834
Arterial Calcification, Generalized, Of Infancy, 2
Cardiomegaly, Right atrial enlargement, Coronary artery calcification, Arterial calcification OMIM:614473
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Left ventricular noncompaction, Left ventricular noncompaction cardiomyopathy, Patent foramen ova... OMIM:300967
Mixed-Type Autoimmune Hemolytic Anemia
Pallor ORPHA:90036
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Pallor ORPHA:263455
Combined Oxidative Phosphorylation Deficiency 41
Cardiomegaly, Intrauterine growth retardation OMIM:618838
Anemia, Sideroblastic, And Spinocerebellar Ataxia
Short stature, Intrauterine growth retardation, Pallor OMIM:301310
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Hypoplastic left heart, Abnormal aortic arch morphology, Arteria lusoria, Abnormal descending aor... ORPHA:99050
Congenital Dyserythropoietic Anemia Type Iii
Short stature, Pallor ORPHA:98870
Mucopolysaccharidosis, Type Iiib
Hepatomegaly, Asymmetric septal hypertrophy, Cardiomegaly, Splenomegaly OMIM:252920
Myelofibrosis
Purpura, Pallor OMIM:254450
Retinitis Pigmentosa 75
Pallor OMIM:617023
3-Hydroxy-3-Methylglutaric Aciduria
Dilated cardiomyopathy, Pallor ORPHA:20
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Hypertrophic cardiomyopathy, Intrauterine growth retardation, Cardiomegaly, Ventricular septal de... OMIM:616897
Alpha-N-Acetylgalactosaminidase Deficiency
Cardiomegaly ORPHA:3137
Hereditary Folate Malabsorption
Pallor, Skeletal muscle atrophy ORPHA:90045
Histiocytosis-Lymphadenopathy Plus Syndrome
Hepatosplenomegaly, Splenomegaly, Mitral valve prolapse, Ventricular septal defect, Cardiomegaly,... OMIM:602782
Combined Oxidative Phosphorylation Deficiency 33
Cardiomyopathy, Intrauterine growth retardation, Cardiomegaly, Left ventricular hypertrophy, Hepa... OMIM:617713
Gaucher Disease, Type Iiic
Aortic valve calcification, Calcification of the aorta, Splenomegaly, Mitral stenosis, Cardiomega... OMIM:231005
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Cardiomegaly, Vascular dilatation OMIM:613320
Hemochromatosis, Type 1
Hepatomegaly, Cardiomegaly, Splenomegaly, Cardiomyopathy OMIM:235200
Danon Disease
Myocardial necrosis, Skeletal muscle autophagosome accumulation, Dilated cardiomyopathy, Generali... OMIM:300257
Tay-Sachs Disease
Pallor OMIM:272800
Paternal Uniparental Disomy Of Chromosome 6
Umbilical hernia, Intrauterine growth retardation, Ventricular septal defect, Cardiomegaly, Hepat... ORPHA:96191
Long-Olsen-Distelmaier Syndrome
Cardiomegaly, Dilated cardiomyopathy, Secundum atrial septal defect, Ventricular septal defect OMIM:620609
Diamond-Blackfan Anemia 1
Intrauterine growth retardation, Pallor, Ventricular septal defect, Atrial septal defect, Small t... OMIM:105650
Cone-Rod Dystrophy 8
Pallor OMIM:605549
Anemia, Sideroblastic, 1
Anemic pallor OMIM:300751
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Cardiomegaly ORPHA:42
Alternating Hemiplegia Of Childhood
Facial hypotonia, Pallor, Cardiomyopathy ORPHA:2131
Autoimmune Hemolytic Anemia, Warm Type
Pallor ORPHA:90033
Congenital Tracheomalacia
Abnormal pulmonary artery morphology, Abnormal heart morphology, Tetralogy of Fallot, Right aorti... ORPHA:95430
Fumarase Deficiency
Perimembranous ventricular septal defect, Pallor OMIM:606812
Sepsis In Premature Infants
Purpura, Petechiae, Pallor ORPHA:90051
Hsd10 Disease, Infantile Type
Hypertrophic cardiomyopathy, Cardiomegaly ORPHA:391428
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Growth delay, Pallor ORPHA:300298
Isolated Right Ventricular Hypoplasia
Muscular ventricular septal defect, Patent foramen ovale, Cardiomegaly, Atrial septal defect, Rig... ORPHA:439
Beta-Thalassemia Intermedia
Pallor, Skin ulcer ORPHA:231222
Senior-Loken Syndrome 8
Pallor OMIM:616307
Fanconi Anemia, Complementation Group C
Intrauterine growth retardation, Ventricular septal defect, Anemic pallor, Short stature, Flexion... OMIM:227645
Fructose-1,6-Bisphosphatase Deficiency
Pallor ORPHA:348
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Aortic valve stenosis, Cardiomegaly, Mitral valve prolapse, Abnormal atrioventricular valve morph... ORPHA:324410
Fanconi Anemia, Complementation Group E
Short stature, Anemic pallor, Abnormal heart morphology OMIM:600901
Plummer-Vinson Syndrome
Pallor ORPHA:54028
Childhood Absence Epilepsy
Pallor ORPHA:64280
Sporadic Pheochromocytoma/Secreting Paraganglioma
Pallor ORPHA:276621
Fanconi Anemia, Complementation Group A
Short stature, Anemic pallor, Abnormal heart morphology OMIM:227650
Beta-Ketothiolase Deficiency
Pallor ORPHA:134
Refsum Disease, Classic
Cardiomegaly, Cardiomyopathy OMIM:266500
Waldenström Macroglobulinemia
Purpura, Pallor ORPHA:33226
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency
Pallor OMIM:246450
Heterotaxy, Visceral, 5, Autosomal
Total anomalous pulmonary venous return, Atrioventricular canal defect, Dextrotransposition of th... OMIM:270100
Letterer-Siwe Disease
Pallor OMIM:246400
Diamond-Blackfan Anemia
Abnormality of the thenar eminence, Abnormal heart morphology, Pallor, Ventricular septal defect,... ORPHA:124
Esophageal Atresia
Tetralogy of Fallot, Growth delay, Pallor, Ventricular septal defect ORPHA:1199
Cardiac-Urogenital Syndrome
Hypoplastic left heart, Coronary sinus enlargement, Interrupted aortic arch, Biventricular hypert... OMIM:618280
Degcags Syndrome
Intrauterine growth retardation, Pallor, Patent foramen ovale, Ventricular septal defect, Dysplas... OMIM:619488
Fanconi Anemia, Complementation Group D2
Short stature, Anemic pallor, Patent ductus arteriosus, Abnormal heart morphology OMIM:227646
Non-Functioning Pituitary Adenoma
Pallor ORPHA:91349
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Pallor ORPHA:331206
Elliptocytosis 1
Pallor OMIM:611804
Lethal Congenital Contracture Syndrome 10
Cardiomegaly, Intrauterine growth retardation, Overriding aorta, Ventricular septal defect OMIM:617022
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Hepatomegaly, Cardiomegaly, Hypertrophic cardiomyopathy OMIM:201475
Von Hippel-Lindau Disease
Upper limb muscle weakness, Cardiomyopathy, Pallor, Distal lower limb muscle weakness, Myocarditis ORPHA:892
Amyloidosis, Hereditary Systemic 1
Cardiomegaly, Stroke-like episode, Cardiomyopathy OMIM:105210
Gaucher Disease, Perinatal Lethal
Intrauterine growth retardation, Hepatosplenomegaly, Splenomegaly, Neonatal death, Cardiomegaly, ... OMIM:608013
Congenital Total Pulmonary Venous Return Anomaly
Hypoplastic left heart, Mixed total anomalous pulmonary venous connection, Atrial situs ambiguous... ORPHA:99125
Pseudo-Torch Syndrome 3
Cardiomegaly, Cerebral hemorrhage OMIM:618886
Idiopathic Hypereosinophilic Syndrome
Dilated cardiomyopathy, Pallor, Myocardial eosinophilic infiltration, Skeletal muscle atrophy ORPHA:3260
Adenohypophysitis
Pallor ORPHA:95512
Prolactinoma
Delayed puberty, Pallor ORPHA:2965
Imerslund-Gräsbeck Syndrome
Pallor ORPHA:35858
Heart Defects, Congenital, And Other Congenital Anomalies
Interrupted aortic arch, Total absence of the pericardium, Hypoplastic tricuspid valve, Umbilical... OMIM:600001
Histiocytoid Cardiomyopathy
Cardiomegaly, Pallor, Ventricular septal defect ORPHA:137675
Sandhoff Disease
Hepatomegaly, Hepatosplenomegaly, Cardiomegaly, Cherry red spot of the macula OMIM:268800
Panhypophysitis
Pallor ORPHA:95513
Cirrhotic Cardiomyopathy
Cardiomegaly, Left atrial enlargement, Left ventricular hypertrophy, Hepatomegaly, Right atrial e... ORPHA:57777
Incontinentia Pigmenti
Short stature, Erythema, Pallor OMIM:308300
Familial Idiopathic Dilatation Of The Right Atrium
Cardiomegaly, Abnormal vena cava morphology, Hepatomegaly, Right atrial enlargement, Abnormal jug... ORPHA:1677
Beck-Fahrner Syndrome
Cardiomegaly, Ventricular septal defect OMIM:618798
Sheehan Syndrome
Dry skin, Pallor ORPHA:91355
Aregenerative Anemia
Pallor ORPHA:101096
Pituitary Apoplexy
Pallor ORPHA:95613
Congenitally Corrected Transposition Of The Great Arteries
Atrial situs ambiguous, Ventricular septal defect, Discordant atrioventricular connection, Atrial... ORPHA:216694
Hereditary Pheochromocytoma-Paraganglioma
Pallor ORPHA:29072
Laubry-Pezzi Syndrome
Abnormal coronary artery morphology, Patent foramen ovale, Aortic valve prolapse, Ventricular sep... ORPHA:99094
Systemic Mastocytosis With Associated Hematologic Neoplasm
Pallor ORPHA:98849
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Dilated cardiomyopathy, Cardiomegaly, Hepatomegaly, Antenatal intracerebral hemorrhage, Enlarged ... OMIM:608836
Congenital Disorder Of Glycosylation, Type It
Dilated cardiomyopathy, Ventricular septal defect, Cardiomegaly, Coarctation of aorta, Hepatomegaly OMIM:614921
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Secundum atrial septal defect, Partial atrioventricular canal defect, Ventricular septal defect, ... OMIM:620066
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Aortic root aneurysm, Mitral valve prolapse, Patent foramen ovale, Cardiomegaly, Bicuspid aortic ... OMIM:245600
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Pallor OMIM:194380
Tsh-Secreting Pituitary Adenoma
Pericardial effusion, Delayed puberty, Pallor ORPHA:91347
Developmental And Epileptic Encephalopathy 95
Hepatomegaly, Cardiomegaly, Umbilical hernia OMIM:618143
Autosomal Recessive Malignant Osteopetrosis
Growth delay, Abnormal pulmonary valve morphology, Pallor ORPHA:667
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Pallor OMIM:300908
Complete Atrioventricular Septal Defect
Primum atrial septal defect, Displacement of the papillary muscles, Abnormal cardiac atrium morph... ORPHA:1329
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Pallor OMIM:277400
Symptomatic Form Of Hfe-Related Hemochromatosis
Hepatomegaly, Cardiomegaly, Splenomegaly, Cardiomyopathy ORPHA:465508
Refractory Anemia With Excess Blasts
Anemic pallor ORPHA:86839
Sickle Cell Disease
Cardiomegaly, Hepatomegaly, Stroke, Splenomegaly OMIM:603903
Carnitine Palmitoyltransferase I Deficiency
Hepatomegaly, Cardiomegaly OMIM:255120
Mogs-Cdg
Hepatosplenomegaly, Cardiomegaly, Left ventricular hypertrophy, Atrial septal defect, Hepatomegaly ORPHA:79330
Lethal Acantholytic Erosive Disorder
Cardiomegaly, Intrauterine growth retardation, Cardiomyopathy ORPHA:158687
Infection-Related Hemolytic Uremic Syndrome
Myocarditis, Pallor ORPHA:544482
Fucosidosis
Hepatomegaly, Cardiomegaly ORPHA:349
Glycogen Storage Disease Due To Acid Maltase Deficiency
Vasculitis, Hypertrophic cardiomyopathy, Dilatation of the cerebral artery, Thoracic aortic aneur... ORPHA:365
Generalized Juvenile Polyposis/Juvenile Polyposis Coli
Anemic pallor, Growth delay ORPHA:329971
Glycogen Storage Disease Ii
Dilatation of the cerebral artery, Splenomegaly, Cardiomegaly, Subarachnoid hemorrhage, Hepatomegaly OMIM:232300
Ogden Syndrome
Peripheral pulmonary artery stenosis, Secundum atrial septal defect, Umbilical hernia, Intrauteri... OMIM:300855
Pearson Marrow-Pancreas Syndrome
Erythema, Pallor OMIM:557000
Interatrial Communication
Right ventricular dilatation, Secundum atrial septal defect, Cardiomegaly, Stroke, Sinus venosus ... ORPHA:1478
Mucopolysaccharidosis Type 3
Umbilical hernia, Splenomegaly, Abnormal mitral valve morphology, Abnormal aortic valve morpholog... ORPHA:581
Mucolipidosis Ii Alpha/Beta
Myelopathy, Umbilical hernia, Hypertrophic cardiomyopathy, Splenomegaly, Cardiomegaly, Hepatomega... OMIM:252500
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity
Hydranencephaly, Retinal arterial tortuosity, Patent foramen ovale, Cardiomegaly, Cerebral hemorr... OMIM:620371
Glycogen Storage Disease Of Heart, Lethal Congenital
Cardiomyopathy, Biventricular hypertrophy, Hypertrophic cardiomyopathy, Cardiomegaly, Pericardial... OMIM:261740
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy
Cardiomegaly, Cardiomyopathy OMIM:619259
Neuroblastoma
Anemic pallor ORPHA:635
Fucosidosis
Hepatomegaly, Cardiomegaly, Splenomegaly, Cherry red spot of the macula OMIM:230000
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Hepatomegaly, Left ventricular hypertrophy, Cardiomegaly, Hypertrophic cardiomyopathy ORPHA:308552
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Hepatomegaly, Cardiomegaly, Abnormal myocardium morphology, Cardiomyopathy ORPHA:228308
Multiple Endocrine Neoplasia Type 2
Proximal amyotrophy, Pallor ORPHA:653
Neurodegeneration And Seizures Due To Copper Transport Defect
Cardiomegaly OMIM:620306
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome
Cardiomegaly ORPHA:2463
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Cardiomegaly, Right ventricular hypertrophy ORPHA:268
Autoinflammatory Disease, Systemic, With Vasculitis
Intrauterine growth retardation, Hepatosplenomegaly, Splenomegaly, Cardiomegaly, Small vessel vas... OMIM:620376
Williams Syndrome
Mitral valve prolapse, Ventricular septal defect, Bicuspid aortic valve, Overriding aorta, Atrial... ORPHA:904
Liver Disease, Severe Congenital
Umbilical hernia, Dilatation of the ventricular cavity, Intrauterine growth retardation, Splenome... OMIM:619991
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Muscular dystrophy, Pallor OMIM:253280
Aicardi-Goutières Syndrome
Hypertrophic cardiomyopathy, Moyamoya phenomenon, Hepatosplenomegaly, Calcification of the aorta,... ORPHA:51
Bohring-Opitz Syndrome
Cardiomegaly, Intrauterine growth retardation, Abnormal cardiac septum morphology ORPHA:97297
Shwachman-Diamond Syndrome 1
Short stature, Myocardial necrosis OMIM:260400
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Hepatomegaly, Ventricular hypertrophy, Hepatosplenomegaly, Cardiomegaly OMIM:618278
Abetalipoproteinemia
Hepatomegaly, Cardiomegaly ORPHA:14
Generalized Arterial Calcification Of Infancy
Ventricular hypertrophy, Aortic dissection, Medial calcification of large arteries, Arterial calc... ORPHA:51608
Beckwith-Wiedemann Syndrome
Visceromegaly, Umbilical hernia, Hypertrophic cardiomyopathy, Large placenta, Splenomegaly, Cardi... ORPHA:116
Amoebiasis Due To Free-Living Amoebae
Myocardial necrosis, Facial palsy, Skin ulcer ORPHA:68
Tropical Endomyocardial Fibrosis
Restrictive cardiomyopathy, Endocardial fibrosis, Coronary artery stenosis, Right ventricular car... ORPHA:75565
Yunis-Varon Syndrome
Cardiomyopathy, Tetralogy of Fallot, Renal artery stenosis, Ventricular septal defect, Cardiomega... ORPHA:3472
Beckwith-Wiedemann Syndrome
Pancreatic hyperplasia, Cardiomyopathy, Cardiomegaly, Hepatomegaly, Enlarged kidney OMIM:130650
Alpha-N-Acetylgalactosaminidase Deficiency Type 2
Cardiomegaly ORPHA:79280
Proteasome-Associated Autoinflammatory Syndrome 1
Hepatomegaly, Cardiomegaly, Splenomegaly OMIM:256040
Goodpasture Syndrome
Pallor OMIM:233450
Singleton-Merten Syndrome 1
Aortic valve stenosis, Aortic valve calcification, Cardiomegaly, Mitral valve calcification, Subv... OMIM:182250

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

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
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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