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Gene: Ptpn13 MGI:103293

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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, non-receptor type 13
Synonyms:
PTP-BL,  Ptpri,  PTPL1

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 Ptpn13 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 Ptpn13 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein
Recurrent bacterial infections, Recurrent protozoan infections, Abnormality of T cell physiology,... OMIM:308220
Monocyte Chemotactic Disorder
Cutaneous anergy, Chronic mucocutaneous candidiasis OMIM:252250
Maturity-Onset Diabetes Of The Young, Type 11
Overweight, Obesity OMIM:613375
Immunodeficiency 18
Recurrent otitis media, Recurrent respiratory infections, Defective T cell proliferation, Recurre... OMIM:615615
Triglyceride Storage Disease, Type Ii
Obesity OMIM:190430
Obesity
Increased waist to hip ratio, Obesity OMIM:601665
Retinal Telangiectasia And Hypogammaglobulinemia
Reduced delayed hypersensitivity, Decreased circulating IgG level OMIM:267900
Candidiasis, Familial, 1
Cutaneous anergy, Chronic mucocutaneous candidiasis, Recurrent viral infections OMIM:114580
Immunodeficiency, Common Variable, 5
Recurrent respiratory infections, Chronic decreased circulating total IgG, Recurrent bacterial in... OMIM:613495
Spermatogenic Failure, X-Linked, 1
Obesity OMIM:305700
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
Recurrent bacterial infections, Decreased circulating IgG level, Recurrent candida infections OMIM:242870
Immunodeficiency With Hyper-Igm, Type 2
Recurrent respiratory infections, Impaired Ig class switch recombination, Increased circulating I... OMIM:605258
Immunodeficiency 24
Decreased circulating IgG level, Recurrent viral infections, Defective T cell proliferation, Redu... OMIM:615897
Immunodeficiency, Common Variable, 4
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... OMIM:613494
Immunodeficiency 35
Recurrent respiratory infections, Recurrent viral infections, Recurrent mycobacterial infections,... OMIM:611521
Prader-Willi syndrome (Type 1)
Truncal obesity DECIPHER:14
Prader-Willi Syndrome (Type 2)
Truncal obesity DECIPHER:53
Abdominal Obesity-Metabolic Syndrome 1
Abdominal obesity OMIM:605552
Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2
Abdominal obesity OMIM:605572
Bardet-Biedl Syndrome 11
Obesity OMIM:615988
Immunodeficiency With Hyper-Igm, Type 3
Impaired Ig class switch recombination, Impaired memory B cell generation, Recurrent bacterial in... OMIM:606843
Thumb Stiffness-Brachydactyly-Intellectual Disability Syndrome
Obesity ORPHA:1078
Bardet-Biedl Syndrome 14
Obesity OMIM:615991
Immunodeficiency With Hyper-Igm, Type 5
Impaired Ig class switch recombination, Recurrent bacterial infections, Increased circulating IgM... OMIM:608106
Bardet-Biedl Syndrome 13
Obesity OMIM:615990
Immunodeficiency, Common Variable, 3
Recurrent respiratory infections, Decreased circulating total IgM, Recurrent bacterial infections... OMIM:613493
Intellectual Developmental Disorder, X-Linked 97
Obesity OMIM:300803
Narcolepsy Type 1
Obesity ORPHA:2073
Bardet-Biedl Syndrome 18
Obesity OMIM:615995
Summitt Syndrome
Obesity OMIM:272350
Agammaglobulinemia 2, Autosomal Recessive
Recurrent respiratory infections, Recurrent pneumonia, Agammaglobulinemia, Recurrent bacterial in... OMIM:613500
Reticular Dysgenesis
Lack of T cell function, Sepsis, Impaired T cell function OMIM:267500
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Truncal obesity, Obesity, Large for gestational age OMIM:240900
Severe Intellectual Disability-Hypotonia-Strabismus-Coarse Face-Planovalgus Syndrome
Obesity ORPHA:436141
Intellectual Developmental Disorder, X-Linked, Syndromic, Wilson-Turner Type
Obesity OMIM:309585
Mitochondrial Complex Iv Deficiency, Nuclear Type 14
Obesity OMIM:619058
Immunodeficiency 11A
Agammaglobulinemia, Recurrent respiratory infections, Reduced antigen-specific T cell proliferati... OMIM:615206
Bardet-Biedl Syndrome 10
Obesity OMIM:615987
Autism, Susceptibility To, X-Linked 6
Obesity OMIM:300872
Agammaglobulinemia 4, Autosomal Recessive
Recurrent pneumonia, Agammaglobulinemia, Recurrent bacterial infections, Decreased circulating to... OMIM:613502
Caspase 8 Deficiency
Recurrent sinopulmonary infections, Complete or near-complete absence of specific antibody respon... OMIM:607271
Immunodeficiency, Common Variable, 2
Impaired T cell function, Recurrent pneumonia, Recurrent bacterial infections, Recurrent sinusiti... OMIM:240500
Adenocarcinoma Of The Esophagus
Obesity ORPHA:99976
Bardet-Biedl Syndrome 5
Obesity OMIM:615983
Coronary Artery Disease, Autosomal Dominant, 1
Obesity OMIM:608320
Wiskott-Aldrich Syndrome 2
Defective T cell proliferation, Reduced natural killer cell activity, Recurrent infections OMIM:614493
Syndromic X-Linked Intellectual Disability 7
Obesity ORPHA:85274
Body Mass Index Quantitative Trait Locus 20
Obesity, Tall stature OMIM:618406
Immunodeficiency, Common Variable, 1
Impaired T cell function, Recurrent pneumonia, Recurrent bacterial infections, Decreased circulat... OMIM:607594
Cortisone Reductase Deficiency 2
Obesity OMIM:614662
Short Stature Due To Primary Acid-Labile Subunit Deficiency
Truncal obesity ORPHA:140941
Intellectual Developmental Disorder, X-Linked 91
Obesity OMIM:300577
Impaired Intellectual Development, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome
Truncal obesity, Childhood-onset truncal obesity OMIM:610156
Agammaglobulinemia 6, Autosomal Recessive
Recurrent pneumonia, Agammaglobulinemia, Recurrent bacterial infections, Decreased circulating to... OMIM:612692
Hernández-Aguirre Negrete Syndrome
Obesity ORPHA:2139
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Obesity ORPHA:171706
Obesity And Hypopigmentation
Overgrowth, Obesity OMIM:620195
Ankylosing Vertebral Hyperostosis With Tylosis
Obesity ORPHA:2206
Cubitus Valgus With Impaired Intellectual Development And Unusual Facies
Truncal obesity OMIM:300471
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Recurrent respiratory infections, Recurrent viral infections, Decreased specific anti-polysacchar... OMIM:300853
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities
Obesity OMIM:620270
Adiposis Dolorosa
Obesity OMIM:103200
Griscelli Syndrome, Type 2
Recurrent bacterial infections, Reduced delayed hypersensitivity OMIM:607624
Simpson-Golabi-Behmel Syndrome, Type 2
Obesity OMIM:300209
Obesity Due To Melanocortin 4 Receptor Deficiency
Childhood-onset truncal obesity, Obesity ORPHA:71529
X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome
Obesity ORPHA:3055
Microduplication Xp11.22P11.23 Syndrome
Obesity ORPHA:217377
11P15.4 Microduplication Syndrome
Obesity ORPHA:300305
Bare Lymphocyte Syndrome, Type Ii
Recurrent urinary tract infections, Recurrent viral infections, Recurrent upper respiratory tract... OMIM:209920
Bardet-Biedl Syndrome 22
Obesity, Large for gestational age OMIM:617119
Xq27.3Q28 Duplication Syndrome
Truncal obesity, Failure to thrive ORPHA:261483
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features
Failure to thrive in infancy, Obesity OMIM:613670
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Recurrent opportunistic infections, Recurrent upper respiratory tract infections, Recurrent pneum... ORPHA:277
Prolactin Deficiency With Obesity And Enlarged Testes
Obesity OMIM:264120
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Obesity ORPHA:88643
Bardet-Biedl Syndrome 16
Obesity OMIM:615993
Nephronophthisis 15
Obesity OMIM:614845
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures
Obesity OMIM:616756
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers
Obesity ORPHA:276630
Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures
Obesity OMIM:618725
Obesity, Hyperphagia, And Developmental Delay
Obesity OMIM:613886
Cortisone Reductase Deficiency 1
Obesity OMIM:604931
Bardet-Biedl Syndrome 7
Obesity OMIM:615984
Polycystic Ovary Syndrome 1
Obesity OMIM:184700
Obesity Due To Prohormone Convertase I Deficiency
Failure to thrive, Childhood-onset truncal obesity, Obesity ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Failure to thrive, Childhood-onset truncal obesity, Obesity ORPHA:71526
Immunodeficiency 96
Recurrent infections, Decreased circulating total IgM, Defective T cell proliferation, Recurrent ... OMIM:619774
Trisomy 5P
Obesity ORPHA:1742
Immunodeficiency By Defective Expression Of Mhc Class Ii
Recurrent respiratory infections, Recurrent viral infections, Chronic mucocutaneous candidiasis, ... ORPHA:572
Morbid Obesity And Spermatogenic Failure
Obesity OMIM:615703
Bardet-Biedl Syndrome 4
Obesity OMIM:615982
Immunodeficiency With Hyper-Igm, Type 1
Dysgammaglobulinemia, Impaired Ig class switch recombination, Increased circulating IgA level, De... OMIM:308230
Obesity-Hypoventilation Syndrome
Obesity OMIM:257500
Chromosome Xq21 Deletion Syndrome
Obesity OMIM:303110
Morm Syndrome
Truncal obesity ORPHA:75858
Mehmo Syndrome
Small for gestational age, Obesity OMIM:300148
Coenzyme Q10 Deficiency, Primary, 2
Overweight, Obesity OMIM:614651
Biemond Syndrome Type 2
Obesity ORPHA:141333
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Obesity ORPHA:329249
Hypogonadotropic Hypogonadism 27 Without Anosmia
Obesity OMIM:619755
Spastic Paraplegia-Intellectual Disability-Nystagmus-Obesity Syndrome
Obesity ORPHA:521390
11Q22.2Q22.3 Microdeletion Syndrome
Obesity ORPHA:444002
Bardet-Biedl Syndrome 8
Obesity OMIM:615985
Borjeson-Forssman-Lehmann Syndrome
Obesity OMIM:301900
Leptin Deficiency Or Dysfunction
Obesity OMIM:614962
Retinal Dystrophy And Obesity
Obesity OMIM:616188
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Cutaneous anergy OMIM:183350
Impaired Intellectual Development, Obesity, Mandibular Prognathism, And Eye And Skin Anomalies
Obesity OMIM:606772
Pituitary Hormone Deficiency, Combined Or Isolated, 7
Truncal obesity, Abdominal obesity OMIM:618160
Summitt Syndrome
Obesity, Tall stature ORPHA:3210
Hypomagnesemia, Seizures, And Impaired Intellectual Development 1
Class III obesity OMIM:616418
Bardet-Biedl Syndrome 21
Overweight, Obesity OMIM:617406
Immunodeficiency 61
Obesity OMIM:300310
Mehmo Syndrome
Obesity ORPHA:85282
Immunodeficiency 81
Recurrent cutaneous abscess formation, Reduced natural killer cell activity, Recurrent infections... OMIM:619374
Bardet-Biedl Syndrome 2
Obesity OMIM:615981
Intellectual Developmental Disorder, X-Linked, Syndromic 11
Obesity OMIM:300238
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Increased circulating IgM level, Increased circulating IgE level, Reduced antigen-specific T cell... OMIM:617241
X-Linked Intellectual Disability-Cubitus Valgus-Dysmorphism Syndrome
Truncal obesity ORPHA:85280
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome
Truncal obesity ORPHA:2429
Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome
Obesity ORPHA:2233
Temple Syndrome
Overweight, Truncal obesity, Small for gestational age, Obesity OMIM:616222
Baralle-Macken Syndrome
Obesity OMIM:619255
Chung-Jansen Syndrome
Obesity OMIM:617991
Intellectual Developmental Disorder, Autosomal Dominant 39
Obesity OMIM:616521
Hydrocephalus-Obesity-Hypogonadism Syndrome
Obesity ORPHA:2183
Intellectual Disability-Obesity-Brain Malformations-Facial Dysmorphism Syndrome
Obesity ORPHA:352530
Prader-Willi Syndrome Due To Imprinting Mutation
Obesity ORPHA:177910
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Recurrent respiratory infections, Recurrent viral infections, Partial IgA deficiency, Recurrent o... ORPHA:35078
Bardet-Biedl Syndrome 3
Obesity OMIM:600151
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Truncal obesity, Large for gestational age ORPHA:293964
Obesity Due To Sim1 Deficiency
Obesity ORPHA:369873
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development
Obesity OMIM:618124
Clark-Baraitser Syndrome
Obesity OMIM:617752
Laurence-Moon Syndrome
Obesity OMIM:245800
Wilson-Turner Syndrome
Truncal obesity ORPHA:3459
Laurence-Moon Syndrome
Obesity ORPHA:2377
Rafiq Syndrome
Truncal obesity, Obesity OMIM:614202
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome
Obesity ORPHA:397973
Temple Syndrome Due To Paternal 14Q32.2 Microdeletion
Obesity ORPHA:254525
Atkin-Flaitz Syndrome
Obesity ORPHA:1193
X-Linked Intellectual Disability-Global Development Delay-Facial Dysmorphism-Sacral Caudal Remnant Syndrome
Obesity ORPHA:480907
Retinitis Pigmentosa
Obesity ORPHA:791
Bardet-Biedl Syndrome 19
Obesity OMIM:615996
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly
Obesity OMIM:615633
14Q11.2 Microduplication Syndrome
Obesity ORPHA:261229
Wagr Syndrome
Obesity ORPHA:893
Ataxia-Oculomotor Apraxia Type 4
Obesity ORPHA:459033
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Decreased lymphocyte proliferation in response to anti-CD3, Recurrent upper respiratory tract inf... OMIM:600802
Macrocephaly/Autism Syndrome
Large for gestational age, Splenomegaly, Obesity, Overgrowth, Lymphopenia OMIM:605309
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome
Truncal obesity ORPHA:2928
X-Linked Intellectual Disability, Shashi Type
Obesity ORPHA:85286
Temple Syndrome
Small for gestational age, Obesity ORPHA:254516
Purine Nucleoside Phosphorylase Deficiency
Recurrent urinary tract infections, Impaired T cell function, Recurrent viral infections, Recurre... OMIM:613179
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Truncal obesity, Obesity OMIM:618363
Pseudohypoparathyroidism, Type Ib
Obesity OMIM:603233
Clark-Baraitser syndrome
Obesity, Tall stature OMIM:300602
Bardet-Biedl Syndrome 9
Truncal obesity, Obesity OMIM:615986
Retinitis Pigmentosa 51
Obesity OMIM:613464
Intellectual Developmental Disorder With Dysmorphic Facies And Behavioral Abnormalities
Obesity, Tall stature OMIM:618089
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Obesity ORPHA:411515
Spastic Paraplegia 11, Autosomal Recessive
Obesity OMIM:604360
Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities
Obesity OMIM:619854
T-Cell Immunodeficiency With Thymic Aplasia
Recurrent urinary tract infections, Sepsis, Recurrent candida infections, Recurrent infections, R... ORPHA:83471
Congenital Myopathy 9A
Obesity OMIM:618822
X-Linked Intellectual Disability, Stevenson Type
Obesity, Tall stature ORPHA:85325
Rhizomelic Limb Shortening With Dysmorphic Features
Obesity OMIM:618821
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Obesity OMIM:601794
6Q16 Microdeletion Syndrome
Obesity ORPHA:171829
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome
Eunuchoid habitus, Obesity ORPHA:2234
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Obesity ORPHA:254531
Beta-Mercaptolactate Cysteine Disulfiduria
Obesity ORPHA:1035
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Obesity ORPHA:3085
Idiopathic Intracranial Hypertension
Obesity ORPHA:238624
Pseudopseudohypoparathyroidism
Obesity OMIM:612463
Microtriplication 11Q24.1
Obesity ORPHA:289522
Chromosome 16P13.3 Deletion Syndrome, Proximal
Failure to thrive, Obesity, Polysplenia OMIM:610543
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Obesity ORPHA:363741
Chromosome Xq27.3-Q28 Duplication Syndrome
Abdominal obesity, Small for gestational age OMIM:300869
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome
Obesity ORPHA:464282
Body Mass Index Quantitative Trait Locus 19
Obesity OMIM:617885
Combined Oxidative Phosphorylation Deficiency 54
Obesity OMIM:619737
Intellectual Developmental Disorder, Autosomal Recessive 13
Truncal obesity OMIM:613192
Intellectual Developmental Disorder, X-Linked 107
Obesity OMIM:301013
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Truncal obesity, Small for gestational age, Obesity ORPHA:96184
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Obesity ORPHA:171839
T-Cell Immunodeficiency With Thymic Aplasia
Recurrent viral infections, Recurrent bronchopulmonary infections, Recurrent pneumonia, Pyoderma,... OMIM:242700
Chromosome 3Q29 Duplication Syndrome
Obesity OMIM:611936
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia
Obesity OMIM:610628
Megalencephaly
Truncal obesity ORPHA:2477
Adult Acute Respiratory Distress Syndrome
Abnormal circulating interleukin concentration, Increased circulating interleukin 6 concentration... ORPHA:70578
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Obesity ORPHA:3077
Autoimmune Lymphoproliferative Syndrome
Increased circulating IgA level, Increased circulating IgG level, Increased circulating IgM level... OMIM:601859
48,Xxyy Syndrome
Obesity, Tall stature ORPHA:10
Shox-Related Short Stature
Obesity ORPHA:314795
Leptin Receptor Deficiency
Obesity OMIM:614963
Intellectual Developmental Disorder, X-Linked 12
Increased body mass index, Small for gestational age, Truncal obesity OMIM:300957
Schaaf-Yang Syndrome
Failure to thrive in infancy, Obesity OMIM:615547
Carpenter Syndrome
Obesity, Polysplenia ORPHA:65759
Obesity Due To Congenital Leptin Deficiency
Decreased proportion of CD4-positive helper T cells, Obesity ORPHA:66628
Abdominal Obesity-Metabolic Syndrome 4
Elevated hemoglobin A1c, Obesity OMIM:618620
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Splenomegaly, Obesity OMIM:615630
Acute Lung Injury
Increased circulating interleukin 6 concentration, Abnormality of serum cytokine level, Sepsis, A... ORPHA:178320
Cornelia De Lange Syndrome 5
Truncal obesity OMIM:300882
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome
Obesity ORPHA:464288
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities
Obesity, Tall stature OMIM:618430
Neurodevelopmental Disorder With Speech Impairment And Dysmorphic Facies
Obesity OMIM:619056
Obesity Due To Leptin Receptor Gene Deficiency
Decreased proportion of CD4-positive helper T cells, Obesity ORPHA:179494
Bardet-Biedl Syndrome 6
Obesity OMIM:605231
15Q24 Microdeletion Syndrome
Failure to thrive, Small for gestational age, Obesity ORPHA:94065
X-Linked Intellectual Disability, Hedera Type
Obesity ORPHA:93952
Subaortic Stenosis-Short Stature Syndrome
Obesity ORPHA:3191
Acrodysostosis 2 With Or Without Hormone Resistance
Obesity OMIM:614613
Chromosome 2Q37 Deletion Syndrome
Obesity OMIM:600430
Proprotein Convertase 1/3 Deficiency
Obesity OMIM:600955
Narcolepsy 7
Obesity OMIM:614250
Urban-Rogers-Meyer Syndrome
Obesity ORPHA:3409
Generalized Pustular Psoriasis
Overweight, Leukocytosis, Lymphopenia, Obesity ORPHA:247353
Acth-Independent Macronodular Adrenal Hyperplasia 2
Abdominal obesity, Increased body weight OMIM:615954
Senior-Loken Syndrome 9
Obesity OMIM:616629
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
Obesity ORPHA:2180
Lipodystrophy, Familial Partial, Type 6
Abdominal obesity OMIM:615980
Joubert Syndrome 37
Obesity OMIM:619185
13Q12.3 Microdeletion Syndrome
Failure to thrive, Obesity ORPHA:412035
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum
Overgrowth, Obesity OMIM:620250
Distal 16P11.2 Microdeletion Syndrome
Obesity ORPHA:261222
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skin Abnormalities
Obesity OMIM:620191
Immunodeficiency 58
Recurrent cutaneous abscess formation, Helicobacter pylori infection, Recurrent respiratory infec... OMIM:618131
Perrault Syndrome 4
Disproportionate tall stature, Obesity OMIM:615300
Pseudopseudohypoparathyroidism
Obesity ORPHA:79445
Tatton-Brown-Rahman Syndrome
Myeloid leukemia, Proportionate tall stature, Obesity ORPHA:404443
Morgagni-Stewart-Morel Syndrome
Obesity ORPHA:77296
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Obesity OMIM:300055
Momo Syndrome
Overgrowth, Obesity, Tall stature, Large for gestational age ORPHA:2563
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Abdominal obesity OMIM:300354
Congenital-Onset Steinert Myotonic Dystrophy
Obesity, Decreased body weight ORPHA:589821
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive
Obesity OMIM:615418
Laron Syndrome
Truncal obesity ORPHA:633
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome
Obesity OMIM:194072
Luscan-Lumish Syndrome
Overgrowth, Obesity OMIM:616831
Ataxia-Oculomotor Apraxia 4
Obesity OMIM:616267
Smith-Magenis Syndrome
Failure to thrive in infancy, Obesity ORPHA:819
Cntnap2-Related Developmental And Epileptic Encephalopathy
Obesity, Abnormal neuron morphology ORPHA:163681
Mody
Overweight, Obesity, Elevated hemoglobin A1c, Large for gestational age ORPHA:552
Radio-Tartaglia Syndrome
Obesity OMIM:619312
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome
Truncal obesity ORPHA:3041
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Truncal obesity, Failure to thrive, Small for gestational age ORPHA:73272
Low Phospholipid-Associated Cholelithiasis
Overweight, Liver abscess, Obesity ORPHA:69663
Webb-Dattani Syndrome
Neurogenic bladder, Obesity OMIM:615926
Man1B1-Cdg
Truncal obesity ORPHA:397941
Xp22.13P22.2 Duplication Syndrome
Truncal obesity ORPHA:284180
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Obesity OMIM:609734
Cohen Syndrome
Small for gestational age, Leukopenia, Childhood-onset truncal obesity, Neutropenia OMIM:216550
Ring Chromosome Y Syndrome
Obesity ORPHA:261529
Momo Syndrome
Overgrowth, Obesity OMIM:157980
Desbuquois Dysplasia 1
Obesity OMIM:251450
Metaphyseal Chondrodysplasia, Schmid Type
Obesity ORPHA:174
Pde4D Haploinsufficiency Syndrome
Obesity ORPHA:439822
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type
Disproportionate tall stature, Abdominal obesity OMIM:301039
19P13.12 Microdeletion Syndrome
Obesity ORPHA:254346
Congenital Disorder Of Glycosylation, Type Iil
Decreased specific anti-polysaccharide antibody level, Impaired T cell function, Recurrent infect... OMIM:614576
Adiposis Dolorosa
Obesity ORPHA:36397
Bdv Syndrome
Obesity OMIM:619326
Bardet-Biedl Syndrome 17
Obesity OMIM:615994
Rabin-Pappas Syndrome
Overgrowth, Obesity, Failure to thrive in infancy OMIM:620155
Angelman Syndrome Due To A Point Mutation
Obesity ORPHA:411511
48,Xxxy Syndrome
Obesity, Tall stature ORPHA:96263
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Obesity ORPHA:98855
Autoimmune Lymphoproliferative Syndrome, Type Iia
Increased circulating IgA level, Increased circulating IgG level, Increased circulating IgM level... OMIM:603909
Joubert Syndrome 8
Obesity OMIM:612291
Müllerian Aplasia And Hyperandrogenism
Obesity ORPHA:247768
Marbach-Schaaf Neurodevelopmental Syndrome
Obesity OMIM:619680
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3
Obesity OMIM:618395
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities
Obesity OMIM:618443
Pituitary Adenoma 4, Acth-Secreting
Abdominal obesity, Obesity OMIM:219090
Silver-Russell Syndrome
Failure to thrive in infancy, Obesity, Cachexia ORPHA:813
Pseudohypoparathyroidism, Type Ic
Obesity OMIM:612462
Carpenter Syndrome 1
Obesity, Polysplenia OMIM:201000
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Overweight, Small for gestational age, Obesity ORPHA:26793
X-Linked Emery-Dreifuss Muscular Dystrophy
Obesity ORPHA:98863
Emery-Dreifuss Muscular Dystrophy
Obesity ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Obesity ORPHA:98853
Abdominal Obesity-Metabolic Syndrome 3
Truncal obesity, Abdominal obesity OMIM:615812
Deafness-Genital Anomalies-Metacarpal And Metatarsal Synostosis Syndrome
Truncal obesity ORPHA:3224
Pseudohypoparathyroidism, Type Ia
Obesity OMIM:103580
Bardet-Biedl Syndrome
Obesity ORPHA:110
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia
Obesity OMIM:608624
Down Syndrome
Obesity, Acute megakaryocytic leukemia ORPHA:870
Retinal Dystrophy With Or Without Macular Staphyloma
Truncal obesity OMIM:617547
Den Hoed-De Boer-Voisin Syndrome
Overweight, Obesity, Decreased body weight OMIM:619229
Paternal Uniparental Disomy Of Chromosome 1
Episodic hemolytic anemia, Obesity ORPHA:251004
Proximal 16P11.2 Microdeletion Syndrome
Failure to thrive, Obesity ORPHA:261197
White-Sutton Syndrome
Failure to thrive, Obesity OMIM:616364
Wiskott-Aldrich Syndrome
Increased circulating IgA level, Reduced natural killer cell activity, Recurrent upper respirator... OMIM:301000
Angelman Syndrome
Obesity OMIM:105830
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity
Obesity OMIM:617296
Kleefstra Syndrome Due To 9Q34 Microdeletion
Failure to thrive, Obesity ORPHA:96147
Sim1-Related Prader-Willi-Like Syndrome
Abdominal obesity, Failure to thrive, Obesity ORPHA:398079
Diamond-Blackfan Anemia 21
Erythroid hypoplasia, Thrombocytopenia, Obesity, Anemia OMIM:620072
Borjeson-Forssman-Lehmann Syndrome
Truncal obesity ORPHA:127
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Obesity ORPHA:98794
Achondroplasia
Obesity ORPHA:15
Peripartum Cardiomyopathy
Obesity, Anemia ORPHA:563
2Q37 Microdeletion Syndrome
Obesity ORPHA:1001
X-Linked Intellectual Disability, Cabezas Type
Obesity, Cachexia ORPHA:85293
Kleefstra Syndrome 1
Obesity OMIM:610253
8P23.1 Microdeletion Syndrome
Obesity, Weight loss ORPHA:251071
Retinitis Pigmentosa 74
Obesity OMIM:616562
Cohen Syndrome
Failure to thrive in infancy, Obesity, Neutropenia ORPHA:193
Insulin-Like Growth Factor I, Resistance To
Truncal obesity, Decreased body weight OMIM:270450
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome
Obesity ORPHA:2235
Septo-Optic Dysplasia Spectrum
Obesity ORPHA:3157
Gaisböck Syndrome
Overweight, Splenomegaly, Increased mean corpuscular hemoglobin concentration, Obesity, Increased... ORPHA:90041
Neutral Lipid Storage Disease With Ichthyosis
Abnormal granulocyte morphology, Obesity ORPHA:98907
Congenital Analbuminemia
Small for gestational age, Obesity ORPHA:86816
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities
Obesity OMIM:618493
Hereditary Orotic Aciduria
Recurrent respiratory infections, Impaired T cell function ORPHA:30
Short Stature, Microcephaly, And Endocrine Dysfunction
Truncal obesity, Lymphopenia, Anemia OMIM:616541
Prader-Willi Syndrome
Abdominal obesity, Failure to thrive in infancy, Obesity OMIM:176270
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Recurrent respiratory infections, Increased circulating IgE level, Increased circulating IgG leve... OMIM:618213
Acth-Independent Macronodular Adrenal Hyperplasia
Truncal obesity OMIM:219080
Angelman Syndrome
Obesity ORPHA:72
Bardet-Biedl Syndrome 1
Truncal obesity, Abdominal obesity, Obesity OMIM:209900
Monosomy 13Q34
Obesity ORPHA:96168
Pigmented Nodular Adrenocortical Disease, Primary, 2
Truncal obesity OMIM:610475
Autosomal Recessive Spastic Paraplegia Type 11
Overweight, Obesity ORPHA:2822
Wagro Syndrome
Obesity OMIM:612469
Kleefstra Syndrome
Obesity ORPHA:261494
Vici Syndrome
Recurrent respiratory infections, Recurrent viral infections, Decreased circulating IgG2 level, D... OMIM:242840
Schimke Immuno-Osseous Dysplasia
Bone marrow hypocellularity, Impaired T cell function, Abnormal lymphocyte physiology, Recurrent ... ORPHA:1830
3Q29 Microduplication Syndrome
Obesity ORPHA:251038
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Obesity ORPHA:209902
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Impaired T cell function, Recurrent candida infections OMIM:201100
Chops Syndrome
Splenomegaly, Obesity OMIM:616368
Microcephalic Primordial Dwarfism, Dauber Type
Obesity ORPHA:319675
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Failure to thrive, Small for gestational age, Obesity ORPHA:98754
Bardet-Biedl Syndrome 12
Obesity OMIM:615989
White-Sutton Syndrome
Obesity ORPHA:468678
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Failure to thrive, Small for gestational age, Obesity ORPHA:98793
Bloom Syndrome
Decreased proportion of CD4-positive T cells, Acute myeloid leukemia, Small for gestational age, ... ORPHA:125
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Failure to thrive, Small for gestational age, Obesity ORPHA:177904
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Failure to thrive, Small for gestational age, Obesity ORPHA:177901
Lysinuric Protein Intolerance
Thrombocytopenia, Splenomegaly, Truncal obesity, Leukopenia, Hemophagocytosis, Failure to thrive,... OMIM:222700
Magel2-Related Prader-Willi-Like Syndrome
Abdominal obesity, Failure to thrive, Increased body weight ORPHA:398069
Xylt1-Cdg
Truncal obesity ORPHA:370930
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii
Truncal obesity, Anemia ORPHA:2637
Alstrom Syndrome
Truncal obesity OMIM:203800
Pigmented Nodular Adrenocortical Disease, Primary, 1
Truncal obesity OMIM:610489
Dysbetalipoproteinemia
Obesity ORPHA:412
Sheehan Syndrome
Normochromic anemia, Obesity ORPHA:91355
Kallmann Syndrome
Obesity ORPHA:478
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation
Truncal obesity, Obesity ORPHA:466950
Aromatase Deficiency
Eunuchoid habitus, Obesity, Tall stature ORPHA:91
Desbuquois Dysplasia 2
Truncal obesity OMIM:615777
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Obesity ORPHA:369837
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Abdominal obesity, Increased body weight ORPHA:189427
Prader-Willi Syndrome Due To Translocation
Obesity ORPHA:177907
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness
Obesity OMIM:250420
Intellectual Developmental Disorder, Autosomal Dominant 29
Obesity OMIM:616078
7Q11.23 Microduplication Syndrome
Obesity ORPHA:96121
Ulnar-Mammary Syndrome
Obesity ORPHA:3138
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies
Obesity, Hepatosplenomegaly OMIM:301066
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome
Failure to thrive, Obesity ORPHA:369950
Combined Oxidative Phosphorylation Deficiency 15
Obesity OMIM:614947
Helsmoortel-Van Der Aa Syndrome
Truncal obesity, Failure to thrive, Obesity OMIM:615873
Distal Deletion 12Q
Failure to thrive in infancy, Proportionate tall stature, Obesity ORPHA:96149
Cushing Disease
Leukocytosis, Increased body weight, Truncal obesity, Abdominal obesity, Decreased eosinophil cou... ORPHA:96253
Thyrotoxic Periodic Paralysis
Obesity, Weight loss ORPHA:79102
Pseudohypoparathyroidism Type 1C
Obesity ORPHA:79444
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis
Splenomegaly, Truncal obesity, Thrombocytopenia OMIM:301072
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Overweight, Failure to thrive, Obesity, Decreased body weight OMIM:619475
Bardet-Biedl Syndrome 20
Obesity OMIM:619471
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii
Truncal obesity OMIM:210720
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome
Obesity ORPHA:466943
Prader-Willi Syndrome
Abdominal obesity, Failure to thrive ORPHA:739
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies
Obesity OMIM:618653
Craniopharyngioma
Obesity ORPHA:54595
Kabuki Syndrome
Failure to thrive, Obesity ORPHA:2322
22Q11.2 Deletion Syndrome
Splenomegaly, Obesity, Hypoplasia of the thymus, Failure to thrive, Thrombocytopenia ORPHA:567
Odontochondrodysplasia 2 With Hearing Loss And Diabetes
Obesity OMIM:619269
Pseudohypoparathyroidism Type 1A
Obesity ORPHA:79443
1P21.3 Microdeletion Syndrome
Obesity ORPHA:293948
White-Kernohan Syndrome
Obesity OMIM:619426
Orotic Aciduria
Impaired T cell function OMIM:258900
Velocardiofacial Syndrome
Impaired T cell function, Recurrent infections OMIM:192430
Myhre Syndrome
Small for gestational age, Obesity OMIM:139210
Xq21 Microdeletion Syndrome
Obesity ORPHA:1435
Ectodermal Dysplasia And Immunodeficiency 2
Recurrent respiratory infections, Defective production of NFKB1-dependent cytokines, Recurrent in... OMIM:612132
Chronic Thromboembolic Pulmonary Hypertension
Myeloproliferative disorder, Obesity ORPHA:70591
Beckwith-Wiedemann Syndrome
Large for gestational age, Splenomegaly, Obesity, Polycythemia, Tall stature ORPHA:116
6Q Terminal Deletion Syndrome
Failure to thrive, Obesity ORPHA:75857
Adnp Syndrome
Truncal obesity ORPHA:404448
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Obesity ORPHA:444077
17Q24.2 Microdeletion Syndrome
Truncal obesity, Failure to thrive in infancy ORPHA:529962
Microcephaly, Epilepsy, And Diabetes Syndrome 1
Obesity OMIM:614231
Meningioma
Obesity ORPHA:2495
1P36 Deletion Syndrome
Abnormality of the spleen, Failure to thrive, Obesity ORPHA:1606
Neutral Lipid Storage Myopathy
Obesity ORPHA:98908
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures
Failure to thrive, Obesity OMIM:617157
45,X/46,Xy Mixed Gonadal Dysgenesis
Obesity ORPHA:1772
Rubinstein-Taybi Syndrome 1
Accessory spleen, Small for gestational age, Truncal obesity, Leukemia, Failure to thrive OMIM:180849
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Leukocytosis, Abdominal obesity OMIM:619321
Progeroid Short Stature With Pigmented Nevi
Impaired T cell function, Recurrent viral infections OMIM:176690
Parenteral Nutrition-Associated Cholestasis
Abnormality of cytokine secretion ORPHA:567983
Tako-Tsubo Cardiomyopathy
Obesity ORPHA:66529
Turner Syndrome Due To Structural X Chromosome Anomalies
Failure to thrive in infancy, Obesity ORPHA:99413
Turner Syndrome
Failure to thrive in infancy, Obesity ORPHA:881
Mosaic Monosomy X
Failure to thrive in infancy, Obesity ORPHA:99228
Monosomy X
Failure to thrive in infancy, Obesity ORPHA:99226
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Failure to thrive, Obesity ORPHA:353281
Monosomy 22Q13.3
Obesity ORPHA:48652
Cushing Syndrome Due To Ectopic Acth Secretion
Leukocytosis, Increased body weight, Weight loss, Truncal obesity, Abdominal obesity, Decreased e... ORPHA:99889
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Obesity ORPHA:293987
Carpenter Syndrome 2
Obesity OMIM:614976
Williams Syndrome
Failure to thrive in infancy, Obesity ORPHA:904
Digeorge Syndrome
Splenomegaly, Obesity, Anemia, Hypoplasia of the thymus, Thrombocytopenia OMIM:188400
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Failure to thrive, Obesity ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Failure to thrive, Obesity ORPHA:353277
Witteveen-Kolk Syndrome
Small for gestational age, Obesity OMIM:613406
Chromosome 1P36 Deletion Syndrome, Distal
Obesity OMIM:607872
Sarcoidosis, Susceptibility To, 1
Abnormality of T cell physiology, Increased circulating antibody level OMIM:181000
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Truncal obesity, Failure to thrive OMIM:612474
Ulnar-Mammary Syndrome
Obesity OMIM:181450
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Abnormality of T cell physiology ORPHA:2237
Williams-Beuren Syndrome
Failure to thrive in infancy, Obesity OMIM:194050
Cornelia De Lange Syndrome
Truncal obesity, Failure to thrive ORPHA:199
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1
Obesity OMIM:309580
Carney Complex
Abdominal obesity, Increased body weight, Tall stature ORPHA:1359
Pallister-Killian Syndrome
Obesity OMIM:601803
Primrose Syndrome
Truncal obesity OMIM:259050
Alström Syndrome
Splenomegaly, Truncal obesity, Obesity, Hepatosplenomegaly ORPHA:64

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 Ptpn13

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 Ptpn13.

No publications found that use IMPC mice or data for Ptpn13.

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
Ptpn13tm402802(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors

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