banner
Genes Phenotypes Help, News, Blog

Gene: Cntn5 MGI:3042287

Log in to follow

Gene Summary

Name:
contactin 5
Synonyms:
NB-2,  A830025P08Rik,  LOC244683,  6720426O10Rik

Order Alleles

IMPC Data Collections

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.

Phenotype System Allele Zyg Sex Life Stage P Value
increased circulating alanine transaminase level Cntn5em1(IMPC)Mbp HOM Early adult 4.53×10-15
abnormal lymph node morphology Cntn5em1(IMPC)Mbp HOM Early adult 0.00
enlarged lymph nodes Cntn5em1(IMPC)Mbp HOM Early adult 0.00

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
Viewing: all phenotypes

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.

X-ray

XRay Images Whole Body Lateral Orientation

13 Images

View images
X-ray

XRay Images Whole Body Dorso Ventral

39 Images

View images

Human diseases caused by Cntn5 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 Cntn5 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Epilepsy, Idiopathic Generalized, Susceptibility To, 12
Bilateral tonic-clonic seizure OMIM:614847
Seizures, Benign Familial Neonatal, 3
Bilateral tonic-clonic seizure OMIM:608217
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency
Lymphadenopathy ORPHA:319600
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)
Abnormal lymph node morphology OMIM:136580
Seizures, Benign Familial Neonatal, 2
Bilateral tonic-clonic seizure, Focal clonic seizure OMIM:121201
Epilepsy, Idiopathic Generalized, Susceptibility To, 7
Bilateral tonic-clonic seizure, Myoclonus OMIM:604827
Epilepsy, Idiopathic Generalized, Susceptibility To, 3
Seizure, Bilateral tonic-clonic seizure OMIM:608762
Epilepsy, Familial Temporal Lobe, 3
Focal impaired awareness seizure, Deja vu aura, Bilateral tonic-clonic seizure with focal onset OMIM:611630
Epilepsy, Familial Temporal Lobe, 5
Focal aware seizure, Focal impaired awareness seizure, Visually-induced seizure, Bilateral tonic-... OMIM:614417
Immunodeficiency 38 With Basal Ganglia Calcification
Lymphadenopathy, Axillary lymphadenopathy, Inguinal lymphadenopathy OMIM:616126
Epilepsy, Familial Temporal Lobe, 8
Focal aware autonomic seizure with epigastric sensation/nausea/vomiting/other gastrointestinal ph... OMIM:616461
Epilepsy, Idiopathic Generalized, Susceptibility To, 17
Febrile seizure (within the age range of 3 months to 6 years), Atonic seizure, Generalized tonic ... OMIM:602477
Febrile Seizures, Familial, 1
Febrile seizure (within the age range of 3 months to 6 years), Atonic seizure, Generalized tonic ... OMIM:121210
Febrile Seizures, Familial, 5
Febrile seizure (within the age range of 3 months to 6 years), Atonic seizure, Generalized tonic ... OMIM:609255
Febrile Seizures, Familial, 6
Febrile seizure (within the age range of 3 months to 6 years), Atonic seizure, Generalized tonic ... OMIM:609253
Febrile Seizures, Familial, 4
Febrile seizure (within the age range of 3 months to 6 years), Atonic seizure, Generalized tonic ... OMIM:604352
Epilepsy, Familial Temporal Lobe, 1
Focal aware seizure, Focal sensory seizure with olfactory features, Bilateral tonic-clonic seizur... OMIM:600512
Hepatic Venoocclusive Disease With Immunodeficiency
Absence of lymph node germinal center OMIM:235550
Squamous Cell Carcinoma Of The Esophagus
Lymphadenopathy ORPHA:99977
Seizures, Benign Familial Infantile, 5
Focal impaired awareness seizure, Bilateral tonic-clonic seizure OMIM:617080
Centralopathic Epilepsy
Focal-onset seizure, Nocturnal seizures, Bilateral tonic-clonic seizure with focal onset OMIM:117100
Reticuloendotheliosis, X-Linked
Hepatosplenomegaly, Lymphadenopathy OMIM:312500
Epilepsy, Early-Onset, 3, With Or Without Developmental Delay
Generalized non-motor (absence) seizure, Focal-onset seizure, Infantile spasms, Bilateral tonic-c... OMIM:620465
Epilepsy, Myoclonic Juvenile
Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure, Myoclonic seizure, Morni... OMIM:254770
Epilepsy, Idiopathic Generalized, Susceptibility To, 11
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Bilateral tonic-clonic se... OMIM:607628
Generalized Epilepsy With Febrile Seizures Plus, Type 1
Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y... OMIM:604233
Generalized Epilepsy With Febrile Seizures Plus, Type 9
Generalized non-motor (absence) seizure, Tonic seizure, Bilateral tonic-clonic seizure, Febrile s... OMIM:616172
Seizures, Benign Familial Neonatal, 1
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Fo... OMIM:121200
Epilepsy, Idiopathic Generalized, Susceptibility To, 14
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Seizure, Bilateral tonic-... OMIM:616685
Pentosuria
Abnormal circulating carbohydrate concentration, Abnormal circulating enzyme concentration ORPHA:2843
Seizures, Benign Familial Infantile, 2
Febrile seizure (within the age range of 3 months to 6 years), Focal impaired awareness seizure, ... OMIM:605751
Generalized Epilepsy With Febrile Seizures Plus, Type 7
Generalized non-motor (absence) seizure, Focal-onset seizure, Bilateral tonic-clonic seizure, Feb... OMIM:613863
Epilepsy, Idiopathic Generalized, Susceptibility To, 8
Generalized non-motor (absence) seizure, Seizure, Bilateral tonic-clonic seizure, Febrile seizure... OMIM:612899
Pulmonary Nodular Lymphoid Hyperplasia
Mediastinal lymphadenopathy, Follicular hyperplasia ORPHA:60026
Generalized Epilepsy With Febrile Seizures Plus, Type 2
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Focal-onset seizure, Bila... OMIM:604403
Epilepsy, Familial Temporal Lobe, 6
Focal aware seizure, Bilateral tonic-clonic seizure with focal onset, Febrile seizure (within the... OMIM:615697
Epilepsy, Idiopathic Generalized
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Bilateral tonic-clonic se... OMIM:600669
Epilepsy, Juvenile Myoclonic, Susceptibility To, 10
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Febrile seizure (within t... OMIM:617924
Generalized Epilepsy With Febrile Seizures Plus, Type 4
Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y... OMIM:609800
Epilepsy, Familial Temporal Lobe, 2
Focal aware seizure, Febrile status epilepticus, Bilateral tonic-clonic seizure, Febrile seizure ... OMIM:608096
Epilepsy, Idiopathic Generalized, Susceptibility To, 10
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Focal-onset seizure, Bila... OMIM:613060
Intellectual Developmental Disorder, X-Linked 100
Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure OMIM:300923
Epilepsy, Juvenile Absence, Susceptibility To, 1
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Bilateral tonic-clonic se... OMIM:607631
Epilepsy, Idiopathic Generalized, Susceptibility To, 15
Generalized non-motor (absence) seizure, Eyelid myoclonus, Seizure, Bilateral tonic-clonic seizur... OMIM:618357
Developmental And Epileptic Encephalopathy 9
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Focal-onset seizure, Bila... OMIM:300088
Immunodeficiency 75 With Lymphoproliferation
Follicular hyperplasia, Hepatosplenomegaly, Lymphadenopathy OMIM:619126
Mantle Cell Lymphoma
Splenomegaly, Lymphadenopathy ORPHA:52416
Myoclonic Epilepsy, Juvenile, Susceptibility To, 4
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Febrile seizure (within t... OMIM:611364
Kerion Celsi
Lymphadenopathy ORPHA:499
Febrile Seizures, Familial, 11
Febrile seizure (within the age range of 3 months to 6 years), Focal impaired awareness seizure, ... OMIM:614418
Benign Familial Infantile Epilepsy
Generalized non-motor (absence) seizure, Generalized clonic seizure, Simple febrile seizure, Foca... ORPHA:306
Juvenile Absence Epilepsy
Generalized non-motor (absence) seizure, Generalized-onset seizure, Bilateral tonic-clonic seizur... ORPHA:1941
Kimura Disease
Follicular hyperplasia, Lymphadenopathy ORPHA:482
Adenocarcinoma Of The Esophagus
Lymphadenopathy ORPHA:99976
Immunodeficiency 32A
Lymphadenitis, Lymphadenopathy OMIM:614893
Deafness, Autosomal Dominant 34, With Or Without Inflammation
Lymphadenopathy OMIM:617772
Granulomatous Slack Skin
Hypercalcemia, Abnormal lymph node morphology ORPHA:33111
Autoinflammation With Episodic Fever And Lymphadenopathy
Splenomegaly, Lymphadenopathy, Recurrent tonsillitis OMIM:618852
Mast Cell Sarcoma
Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy ORPHA:66661
Laryngeal Neuroendocrine Tumor
Elevated circulating carcinoembryonic antigen concentration, Chronic noninfectious lymphadenopathy ORPHA:100083
Immunodeficiency 104
Splenomegaly, Lymphadenopathy OMIM:608971
Fish-Eye Disease
Splenomegaly, Lymphadenopathy, Decreased HDL cholesterol concentration ORPHA:79292
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hypertriglyceridemia, Lymphadenopathy, Hepatosplenomegaly, Splenomegaly, Increased circulating fe... OMIM:613101
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hypertriglyceridemia, Lymphadenopathy, Increased circulating ferritin concentration, Splenomegaly OMIM:603552
Lymphoproliferative Syndrome 3
Hepatosplenomegaly, Lymphadenopathy OMIM:618261
Alpha-Heavy Chain Disease
Hypocalcemia, Splenomegaly, Lymphadenopathy ORPHA:100025
Follicular Lymphoma
Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy ORPHA:545
Burkitt Lymphoma
Abnormal lymph node morphology, Abnormality of the spleen, Hyperuricemia ORPHA:543
Immune Dysregulation, Autoimmunity, And Autoinflammation
Abnormal circulating C-reactive protein concentration, Cervical lymphadenopathy, Inguinal lymphad... OMIM:620514
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Splenomegaly, Lymphadenopathy ORPHA:444463
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Splenomegaly, Lymphadenopathy ORPHA:86893
Immunodeficiency With Hyper-Igm, Type 5
Lymphadenopathy OMIM:608106
Immunodeficiency 27B
Generalized lymphadenopathy OMIM:615978
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia
Abnormal lymph node morphology, Chronic noninfectious lymphadenopathy ORPHA:97290
Familial Cold Autoinflammatory Syndrome 2
Lymphadenopathy, Splenomegaly, Elevated circulating C-reactive protein concentration OMIM:611762
Familial Papillary Or Follicular Thyroid Carcinoma
Abnormal lymph node morphology, Chronic noninfectious lymphadenopathy ORPHA:319487
Immunodeficiency 27A
Lymphadenopathy, Hepatosplenomegaly, Splenomegaly, Hypoalbuminemia, Enlarged mesenteric lymph node OMIM:209950
Immunodeficiency With Hyper-Igm, Type 2
Lymphadenopathy OMIM:605258
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Splenomegaly, Lymphadenopathy OMIM:615513
Immunodeficiency 76
Splenomegaly, Lymphadenopathy OMIM:619164
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Hepatosplenomegaly, Lymphadenopathy OMIM:618982
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Fluctuating splenomegaly, Lymphadenopathy OMIM:619220
Immunodeficiency With Hyper-Igm, Type 3
Absence of lymph node germinal center OMIM:606843
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Follicular hyperplasia, Lymphadenopathy OMIM:619846
Immunodeficiency 103, Susceptibility To Fungal Infections
Decreased circulating iron concentration, Lymphadenopathy OMIM:212050
Rosaï-Dorfman Disease
Lymphadenopathy ORPHA:158014
Mu-Heavy Chain Disease
Splenomegaly, Lymphadenopathy ORPHA:100024
Immunodeficiency 109 With Lymphoproliferation
Hypertriglyceridemia, Generalized lymphadenopathy, Splenomegaly OMIM:620282
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Cervical lymphadenopathy OMIM:618987
Autoimmune Lymphoproliferative Syndrome, Type Iii
Mediastinal lymphadenopathy, Lymphadenopathy, Elevated circulating C-reactive protein concentrati... OMIM:615559
Pfapa Syndrome
Splenomegaly, Lymphadenopathy ORPHA:42642
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Abnormality of the lymphatic system, Abnormal lymph node morphology, Elevated circulating C-react... ORPHA:54251
Mycosis Fungoides
Lymphadenopathy OMIM:254400
Immunodeficiency With Hyper-Igm, Type 4
Absence of lymph node germinal center OMIM:608184
Heme Oxygenase 1 Deficiency
Lymphadenopathy, Elevated circulating C-reactive protein concentration, Asplenia, Increased circu... OMIM:614034
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Lymphadenopathy, Mediastinal lymphadenopathy, Splenomegaly OMIM:300853
Immunodeficiency 64 With Lymphoproliferation
Mediastinal lymphadenopathy, Lymphadenopathy, Hepatosplenomegaly, Splenomegaly, Cervical lymphade... OMIM:618534
Systemic-Onset Juvenile Idiopathic Arthritis
Splenomegaly, Lymphadenopathy, Elevated circulating C-reactive protein concentration ORPHA:85414
Immunodeficiency, Common Variable, 2
Follicular hyperplasia, Lymphadenopathy, Splenomegaly OMIM:240500
Caspase 8 Deficiency
Splenomegaly, Lymphadenopathy OMIM:607271
Cinca Syndrome
Hepatosplenomegaly, Lymphadenopathy, Elevated circulating C-reactive protein concentration OMIM:607115
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Lymph node hypoplasia, Splenomegaly, Aplasia of the thymus, Absent tonsils, Generalized lymphaden... OMIM:602450
Leukocyte Adhesion Deficiency, Type Iii
Abnormal lymph node morphology, Splenomegaly, Hepatosplenomegaly OMIM:612840
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies
Hepatosplenomegaly, Lymphadenopathy, Elevated circulating C-reactive protein concentration, Eleva... OMIM:619750
Pleural Mesothelioma
Lymphadenopathy ORPHA:50251
Pseudomyxoma Peritonei
Lymphadenopathy ORPHA:26790
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Lymphadenopathy, Increased LDL cho... OMIM:267700
Griscelli Syndrome Type 2
Splenomegaly, Hyperlipidemia, Lymphadenopathy ORPHA:79477
Immunodeficiency 52
Lymphadenopathy, Splenomegaly OMIM:617514
Classic Mycosis Fungoides
Lymphadenopathy, Splenomegaly ORPHA:2584
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Absent tonsils, Absence of lymph node germinal center ORPHA:277
Classic Hodgkin Lymphoma
Bone marrow hypocellularity, Splenomegaly, Lymphadenopathy ORPHA:391
Schnitzler Syndrome
Lymphadenopathy, Splenomegaly ORPHA:37748
Activated Pi3K-Delta Syndrome
Lymphadenopathy, Splenomegaly, Recurrent tonsillitis ORPHA:397596
Immunodeficiency 105
Absence of lymph node germinal center, Hepatosplenomegaly OMIM:619924
Cold Agglutinin Disease
Splenomegaly, Lymphadenopathy ORPHA:56425
Leishmaniasis
Lymphadenopathy, Hypoalbuminemia, Splenomegaly ORPHA:507
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Splenomegaly, Lymphadenopathy OMIM:618495
Middle Ear Neuroendocrine Tumor
Chronic noninfectious lymphadenopathy ORPHA:100084
Tularemia
Abnormal nasopharyngeal adenoid morphology, Cervical lymphadenopathy, Mediastinal lymphadenopathy... ORPHA:3392
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Splenomegaly, Lymphadenopathy OMIM:150550
Indolent Systemic Mastocytosis
Splenomegaly, Lymphadenopathy ORPHA:98848
Immunodeficiency 54
Lymphadenopathy, Splenomegaly OMIM:609981
Lymphoproliferative Syndrome, X-Linked, 1
Lymphadenopathy, Hypoalbuminemia, Splenomegaly, Elevated circulating C-reactive protein concentra... OMIM:308240
Congenital Toxoplasmosis
Lymphadenopathy ORPHA:858
Rhabdoid Tumor
Hypercalcemia, Lymphadenopathy ORPHA:69077
Macrophage Activation Syndrome
Hypertriglyceridemia, Lymphadenopathy, Elevated circulating C-reactive protein concentration, Spl... ORPHA:158061
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Lymphadenopathy, Splenomegaly OMIM:619375
Immunodeficiency 7
Splenomegaly, Lymphadenopathy OMIM:615387
Immunodeficiency, Common Variable, 1
Lymphadenopathy, Splenomegaly OMIM:607594
Lymphoproliferative Syndrome 1
Lymphadenopathy, Increased circulating ferritin concentration, Splenomegaly, Elevated circulating... OMIM:613011
Ras-Associated Autoimmune Leukoproliferative Disorder
Follicular hyperplasia, Splenomegaly OMIM:614470
Lymphoproliferative Syndrome 2
Lymphadenopathy, Hepatosplenomegaly, Splenomegaly OMIM:615122
Meige Disease
Absence of lymph node germinal center, Lymph node hypoplasia ORPHA:90186
Omenn Syndrome
Splenomegaly, Hypoproteinemia, Hypoplasia of the thymus, Lymphadenopathy OMIM:603554
Nephroblastoma
Lymphadenopathy ORPHA:654
Proteasome-Associated Autoinflammatory Syndrome 2
Lymphadenopathy, Elevated circulating C-reactive protein concentration OMIM:618048
Purine Nucleoside Phosphorylase Deficiency
Hypouricemia, Increased circulating inosine concentration, Lymph node hypoplasia, Splenomegaly, I... OMIM:613179
Tafro Syndrome
Splenomegaly, Hepatosplenomegaly, Lymphadenopathy, Elevated circulating C-reactive protein concen... ORPHA:457077
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hypertriglyceridemia, Lymphadenopathy, Hypoproteinemia, Increased total bilirubin, Hyponatremia, ... OMIM:603553
Thyroid Lymphoma
Lymphadenopathy ORPHA:97285
Castleman Disease
Mediastinal lymphadenopathy, Lymphadenopathy, Elevated circulating C-reactive protein concentrati... ORPHA:160
Immunodeficiency 91 And Hyperinflammation
Hepatosplenomegaly, Lymphadenopathy, Elevated circulating C-reactive protein concentration OMIM:619644
Adult-Onset Still Disease
Abnormal circulating lipid concentration, Increased circulating ferritin concentration, Lymphaden... ORPHA:829
Griscelli Syndrome
Abnormal circulating lipid concentration, Bone marrow hypocellularity, Splenomegaly, Lymphadenopathy ORPHA:381
Acquired Hypertrichosis Lanuginosa
Lymphadenopathy ORPHA:2221
Squamous Cell Carcinoma Of The Anal Canal
Lymphadenopathy ORPHA:424019
Immunodeficiency 97 With Autoinflammation
Hypertriglyceridemia, Mediastinal lymphadenopathy, Lymphadenopathy, Hepatosplenomegaly, Splenomeg... OMIM:619802
Combined Immunodeficiency Due To Zap70 Deficiency
Lymphadenitis, Abnormal lymph node morphology, Hepatosplenomegaly, Lymphadenopathy ORPHA:911
Papa Syndrome
Lymphadenopathy ORPHA:69126
Desmoplastic Small Round Cell Tumor
Mediastinal lymphadenopathy, Lymphadenopathy ORPHA:83469
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Lymphadenopathy, Recurrent tonsillitis, Lymphadenitis, Hepatosplenomegaly, Splenomegaly OMIM:618935
Proteasome-Associated Autoinflammatory Syndrome 4
Splenomegaly, Lymphadenopathy OMIM:619183
Roifman Syndrome
Lymphadenopathy, Splenomegaly OMIM:616651
Thymic Neuroendocrine Tumor
Neoplasm of the thymus, Hypercalcemia, Mediastinal lymphadenopathy, Chronic noninfectious lymphad... ORPHA:97289
Boutonneuse Fever
Cervical lymphadenopathy, Lymphadenopathy ORPHA:83313
Hereditary Amyloidosis With Primary Renal Involvement
Decreased HDL cholesterol concentration, Abnormal lymph node morphology, Lymphadenopathy, Decreas... ORPHA:85450
Roifman Syndrome
Hepatosplenomegaly, Lymphadenopathy ORPHA:353298
Deafness-Lymphedema-Leukemia Syndrome
Bone marrow hypocellularity, Splenomegaly, Lymphadenopathy ORPHA:3226
Pancreatoblastoma
Abnormal lymph node morphology ORPHA:677
Autoimmune Lymphoproliferative Syndrome
Chronic noninfectious lymphadenopathy, Splenomegaly, Follicular hyperplasia OMIM:601859
Autoimmune Lymphoproliferative Syndrome, Type Iia
Chronic noninfectious lymphadenopathy, Lymphadenopathy, Splenomegaly, Follicular hyperplasia OMIM:603909
Pulmonary Non-Tuberculous Mycobacterial Infection
Lymphadenopathy ORPHA:411703
Klatskin Tumor
Lymphadenopathy ORPHA:99978
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Absent tonsils, Lymph node hypoplasia ORPHA:276
Sézary Syndrome
Lymphadenopathy, Splenomegaly ORPHA:3162
Cinca Syndrome
Lymphadenopathy, Splenomegaly, Elevated circulating C-reactive protein concentration ORPHA:1451
Carcinoid Syndrome
Abnormal circulating B-type natriuretic peptide concentration, Chronic noninfectious lymphadenopathy ORPHA:100093
Familial Hemophagocytic Lymphohistiocytosis
Hypertriglyceridemia, Lymphadenopathy, Splenomegaly, Hypoalbuminemia, Increased circulating ferri... ORPHA:540
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Lymphadenopathy, Hypoproteinemia, Lymphadenitis, Elevated circulating creatine kinase concentrati... OMIM:615895
Niemann-Pick Disease, Type A
Lymphadenopathy, Splenomegaly OMIM:257200
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Lymphadenopathy, Elevated circulating C-reactive protein concentration OMIM:617099
Scrub Typhus
Lymphadenopathy, Splenomegaly ORPHA:83317
Anaplastic Thyroid Carcinoma
Lymphadenopathy ORPHA:142
Medullary Thyroid Carcinoma
Lymphadenopathy ORPHA:1332
Acute Interstitial Pneumonia
Elevated circulating creatinine concentration, Lymphadenopathy, Elevated circulating C-reactive p... ORPHA:79126
Primary Myelofibrosis
Lymphadenopathy, Hepatosplenomegaly, Splenomegaly ORPHA:824
Mevalonic Aciduria
Fluctuating splenomegaly, Lymphadenopathy, Elevated circulating C-reactive protein concentration,... OMIM:610377
American Trypanosomiasis
Lymphadenopathy, Splenomegaly ORPHA:3386
Melkersson-Rosenthal Syndrome
Lymphadenopathy ORPHA:2483
Cyclic Neutropenia
Cervical lymphadenopathy, Lymphadenopathy, Recurrent tonsillitis ORPHA:2686
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Lymphadenopathy, Splenomegaly OMIM:616100
Legionnaires Disease
Bone marrow hypocellularity, Hyponatremia, Splenomegaly, Lymphadenopathy ORPHA:549
Immunodeficiency 98 With Autoinflammation, X-Linked
Bone marrow hypocellularity, Splenomegaly, Lymphadenopathy OMIM:301078
Diffuse Cutaneous Mastocytosis
Lymphadenopathy, Abnormality of the spleen ORPHA:79456
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Absent peripheral lymph nodes in presence of infection ORPHA:98813
Aggressive Systemic Mastocytosis
Hypersplenism, Hepatosplenomegaly, Lymphadenopathy ORPHA:98850
Omenn Syndrome
Lymphadenopathy, Splenomegaly ORPHA:39041
Gamma-Heavy Chain Disease
Splenomegaly, Lymphadenopathy ORPHA:100026
Joint Contractures, Osteochondromas, And B-Cell Lymphoma
Generalized lymphadenopathy OMIM:620232
Immunodeficiency 10
Lymphadenopathy, Splenomegaly OMIM:612783
Multiple Myeloma
Lymphadenopathy, Hypercalcemia, Splenomegaly, Hyperproteinemia, Elevated circulating creatinine c... ORPHA:29073
Combined Immunodeficiency Due To Crac Channel Dysfunction
Lymphadenopathy, Splenomegaly ORPHA:169090
Felty Syndrome
Bone marrow hypocellularity, Splenomegaly, Lymphadenopathy ORPHA:47612
Proteasome-Associated Autoinflammatory Syndrome 3
Hypertriglyceridemia, Lymphadenopathy, Splenomegaly OMIM:617591
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Cervical lymphadenopathy, Lymphadenopathy, Elevated circulating C-reactive protein concentration OMIM:617718
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Hepatosplenomegaly, Lymphadenopathy ORPHA:169154
Hypocomplementemic Urticarial Vasculitis
Lymphadenopathy, Splenomegaly ORPHA:36412
Cutaneous Neuroendocrine Carcinoma
Chronic noninfectious lymphadenopathy ORPHA:79140
Hyperimmunoglobulinemia D With Periodic Fever
Lymphadenopathy ORPHA:343
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Enlarged tonsils, Hepatosplenomegaly, Lymphadenopathy OMIM:606367
Immunodeficiency With Hyper-Igm, Type 1
Absence of lymph node germinal center, Enlarged tonsils, Splenomegaly OMIM:308230
Immunodeficiency, Common Variable, 8, With Autoimmunity
Lymphadenopathy, Generalized lymphadenopathy, Splenomegaly OMIM:614700
Mixed Connective Tissue Disease
Lymphadenopathy, Mediastinal lymphadenopathy, Splenomegaly ORPHA:809
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Lymphadenopathy, Splenomegaly ORPHA:436159
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Generalized lymphadenopathy, Hepatosplenomegaly, Lymphadenitis OMIM:618986
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Lymphadenopathy OMIM:304790
Tangier Disease
Hypertriglyceridemia, Chronic noninfectious lymphadenopathy, Orange discolored tonsils, Hepatospl... ORPHA:31150
Pulmonary Capillary Hemangiomatosis
Mediastinal lymphadenopathy, Lymphadenopathy ORPHA:199241
Malt Lymphoma
Mediastinal lymphadenopathy, Lymphadenopathy ORPHA:52417
Lig4 Syndrome
Lymphadenopathy ORPHA:99812
Kikuchi-Fujimoto Disease
Abnormal lymph node morphology, Lymphadenopathy, Elevated circulating C-reactive protein concentr... ORPHA:50918
Neuroblastoma
Increased circulating ferritin concentration, Lymphadenopathy ORPHA:635
Aregenerative Anemia
Bone marrow hypocellularity, Lymphadenopathy ORPHA:101096
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Lymphadenopathy, Hypocalcemia, Decreased circulating prealbumin concentration, Hypomagnesemia, Sp... ORPHA:37042
Graft Versus Host Disease
Hyperbilirubinemia, Hepatosplenomegaly, Lymphadenopathy ORPHA:39812
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Lymphadenitis, Lymphadenopathy, Splenomegaly OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Lymphadenitis, Lymphadenopathy, Splenomegaly OMIM:233710
Hyper-Igd Syndrome
Lymphadenitis, Lymphadenopathy, Hepatosplenomegaly, Splenomegaly OMIM:260920
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Lymphadenitis, Lymphadenopathy, Splenomegaly OMIM:233690
Lymphatic Filariasis
Lymphadenitis, Abnormality of the lymphatic system, Lymphangiectasis, Lymphadenopathy ORPHA:2035
Drug Reaction With Eosinophilia And Systemic Symptoms
Lymphadenopathy ORPHA:139402
Carney Triad
Mediastinal lymphadenopathy, Lymphadenopathy ORPHA:139411
T-Cell Immunodeficiency With Thymic Aplasia
Lymphadenopathy, Hypocalcemic tetany, Aplasia of the thymus ORPHA:83471
Acute Promyelocytic Leukemia
Lymphadenopathy ORPHA:520
Pediatric Systemic Lupus Erythematosus
Lymphadenopathy ORPHA:93552
Agammaglobulinemia, X-Linked
Lymph node hypoplasia OMIM:300755
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Hypertriglyceridemia, Lymphadenopathy, Accessory spleen, Splenomegaly, Polysplenia OMIM:619418
H Syndrome
Hypertriglyceridemia, Hepatosplenomegaly, Lymphadenopathy ORPHA:168569
Chédiak-Higashi Syndrome
Hypertriglyceridemia, Lymphadenopathy, Hypoproteinemia, Hyponatremia, Hepatosplenomegaly, Splenom... ORPHA:167
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Absence of lymph node germinal center, Hepatosplenomegaly ORPHA:79124
Farber Disease
Hepatosplenomegaly, Lymphadenopathy ORPHA:333
Waldenström Macroglobulinemia
Lymphadenopathy, Splenomegaly ORPHA:33226
Immunodeficiency 55
Lymphadenopathy OMIM:617827
Acute Generalized Exanthematous Pustulosis
Lymphadenopathy ORPHA:293173
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Lymphadenopathy, Elevated circulating C-reactive protein concentration, Bone marrow hypocellulari... OMIM:615688
Poems Syndrome
Lymphadenopathy, Splenomegaly ORPHA:2905
Hennekam Syndrome
Lymphadenopathy, Hypocalcemia, Lymphangioma, Splenomegaly, Pulmonary lymphangiectasia ORPHA:2136
Chediak-Higashi Syndrome
Lymphadenopathy, Splenomegaly OMIM:214500
Familial Pancreatic Carcinoma
Hepatosplenomegaly, Lymphadenopathy ORPHA:1333
Histiocytosis-Lymphadenopathy Plus Syndrome
Lymphadenopathy, Cervical lymphadenopathy, Hepatosplenomegaly, Splenomegaly OMIM:602782
Common Variable Immunodeficiency
Lymphadenopathy, Splenomegaly ORPHA:1572
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome
Lymphadenopathy, Splenomegaly, Elevated circulating C-reactive protein concentration ORPHA:32960
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Absent peripheral lymph nodes in presence of infection OMIM:600802
Cherubism
Submandibular lymph node enlargement OMIM:118400
Granulomatous Disease, Chronic, X-Linked
Lymphadenitis, Lymphadenopathy, Splenomegaly OMIM:306400
Systemic Mastocytosis With Associated Hematologic Neoplasm
Lymphadenopathy, Splenomegaly ORPHA:98849
Q Fever
Lymphadenopathy, Hepatosplenomegaly, Splenomegaly ORPHA:781
Congenital Syphilis
Hepatosplenomegaly, Lymphadenopathy ORPHA:499009
Selective Igm Deficiency
Lymphadenitis, Lymphadenopathy ORPHA:331235
Spondyloenchondrodysplasia With Immune Dysregulation
Lymphadenopathy OMIM:607944
Immunodeficiency 82 With Systemic Inflammation
Lymphadenopathy, Elevated circulating C-reactive protein concentration, Hypernatremia, Splenomega... OMIM:619381
Lymphangioleiomyomatosis
Abnormality of the lymphatic system, Pulmonary lymphangiomyomatosis, Lymphadenopathy ORPHA:538
Immunodeficiency 31C
Lymphadenopathy, Splenomegaly OMIM:614162
Adenocarcinoma Of The Anal Canal
Lymphadenopathy ORPHA:424016
Gallbladder Neuroendocrine Tumor
Chronic noninfectious lymphadenopathy ORPHA:100086
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis
Hepatosplenomegaly, Lymphadenopathy ORPHA:85408
Marburg Hemorrhagic Fever
Lymphadenopathy, Hypokalemia, Hyperamylasemia, Elevated circulating creatine kinase concentration... ORPHA:99826
Autoimmune Lymphoproliferative Syndrome
Lymphadenopathy, Chronic noninfectious lymphadenopathy, Bone marrow hypocellularity, Splenomegaly... ORPHA:3261
Autosomal Recessive Malignant Osteopetrosis
Hypocalcemia, Lymphadenopathy, Hypophosphatemia, Splenomegaly ORPHA:667
Igg4-Related Kidney Disease
Lymphadenopathy, Elevated circulating C-reactive protein concentration, Decreased retinol-binding... ORPHA:449395
Coccidioidomycosis
Lymphadenopathy, Mediastinal lymphadenopathy, Abnormality of the spleen ORPHA:228123
Ileal Neuroendocrine Tumor
Lymphadenopathy ORPHA:100078
Brucellosis
Lymphadenopathy, Splenomegaly, Elevated circulating C-reactive protein concentration, Hypersplenism ORPHA:1304
Proteasome-Associated Autoinflammatory Syndrome 1
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Lymphadenopathy, Elevated circulat... OMIM:256040
Familial Mediterranean Fever
Lymphadenopathy, Splenomegaly ORPHA:342
Chikungunya
Cervical lymphadenopathy, Lymphadenopathy ORPHA:324625
Igg4-Related Ophthalmic Disease
Lymphadenopathy, Elevated circulating C-reactive protein concentration ORPHA:449563
Igg4-Related Submandibular Gland Disease
Lymphadenopathy ORPHA:449432
Sarcoidosis
Hypercalcemia, Abnormal lymph node morphology, Lymphadenopathy ORPHA:797
Crimean-Congo Hemorrhagic Fever
Elevated circulating creatine kinase concentration, Lymphadenopathy, Splenomegaly ORPHA:99827
Behçet Disease
Lymphadenopathy, Splenomegaly ORPHA:117
Leptospirosis
Lymphadenopathy, Hyperproteinemia ORPHA:509
Igg4-Related Dacryoadenitis And Sialadenitis
Lymphadenopathy ORPHA:79078
Primary Sjögren Syndrome
Lymphadenopathy ORPHA:289390
Systemic Lupus Erythematosus
Lymphadenopathy ORPHA:536
Blau Syndrome
Lymphadenopathy, Splenomegaly ORPHA:90340
Cushing Syndrome Due To Ectopic Acth Secretion
Abnormal lymph node morphology, Neoplasm of the thymus ORPHA:99889
African Trypanosomiasis
Lymphadenopathy, Hepatosplenomegaly, Splenomegaly ORPHA:3385

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 Cntn5

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 Cntn5.

No publications found that use IMPC mice or data for Cntn5.

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
Cntn5tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Cntn5tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Cntn5em1(IMPC)Mbp Exon Deletion Mice, Tissue

The IMPC Newsletter

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

Subscribe to newsletter