Gene Summary

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

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

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

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
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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

X-ray

XRay Images Whole Body Dorso Ventral

39 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
Focal clonic seizure, Bilateral tonic-clonic seizure OMIM:121201
Epilepsy, Idiopathic Generalized, Susceptibility To, 7
Myoclonus, Bilateral tonic-clonic seizure 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
Visually-induced seizure, Focal aware seizure, Focal impaired awareness seizure, Bilateral tonic-... OMIM:614417
Immunodeficiency 38 With Basal Ganglia Calcification
Axillary lymphadenopathy, Inguinal lymphadenopathy, Lymphadenopathy OMIM:616126
Epilepsy, Familial Temporal Lobe, 8
Focal aware sensory seizure with auditory features, Bilateral tonic-clonic seizure with focal ons... OMIM:616461
Epilepsy, Idiopathic Generalized, Susceptibility To, 17
Generalized tonic seizure, Atonic seizure, Bilateral tonic-clonic seizure, Febrile seizure (withi... OMIM:602477
Febrile Seizures, Familial, 1
Generalized tonic seizure, Atonic seizure, Bilateral tonic-clonic seizure, Febrile seizure (withi... OMIM:121210
Febrile Seizures, Familial, 5
Generalized tonic seizure, Atonic seizure, Bilateral tonic-clonic seizure, Febrile seizure (withi... OMIM:609255
Febrile Seizures, Familial, 6
Generalized tonic seizure, Atonic seizure, Bilateral tonic-clonic seizure, Febrile seizure (withi... OMIM:609253
Febrile Seizures, Familial, 4
Generalized tonic seizure, Atonic seizure, Bilateral tonic-clonic seizure, Febrile seizure (withi... OMIM:604352
Epilepsy, Familial Temporal Lobe, 1
Focal automatism seizure, Focal aware sensory seizure with auditory features, Focal impaired awar... 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
Nocturnal seizures, Bilateral tonic-clonic seizure with focal onset, Focal-onset seizure OMIM:117100
Reticuloendotheliosis, X-Linked
Hepatosplenomegaly, Lymphadenopathy OMIM:312500
Epilepsy, Myoclonic Juvenile
Myoclonic seizure, Generalized non-motor (absence) seizure, Morning myoclonic jerks, Bilateral to... OMIM:254770
Epilepsy, Early-Onset, 3, With Or Without Developmental Delay
Myoclonic seizure, Focal impaired awareness seizure, Generalized non-motor (absence) seizure, Feb... OMIM:620465
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
Bilateral tonic-clonic seizure, Atonic seizure, Generalized non-motor (absence) seizure, Febrile ... OMIM:604233
Generalized Epilepsy With Febrile Seizures Plus, Type 9
Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y... OMIM:616172
Seizures, Benign Familial Neonatal, 1
Focal clonic seizure, Bilateral tonic-clonic seizure, Febrile seizure (within the age range of 3 ... OMIM:121200
Epilepsy, Idiopathic Generalized, Susceptibility To, 14
Seizure, Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 mont... OMIM:616685
Seizures, Benign Familial Infantile, 2
Focal impaired awareness seizure, Bilateral tonic-clonic seizure, Febrile seizure (within the age... OMIM:605751
Generalized Epilepsy With Febrile Seizures Plus, Type 7
Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y... OMIM:613863
Epilepsy, Idiopathic Generalized, Susceptibility To, 8
Generalized non-motor (absence) seizure, Seizure, Febrile seizure (within the age range of 3 mont... OMIM:612899
Pulmonary Nodular Lymphoid Hyperplasia
Mediastinal lymphadenopathy, Follicular hyperplasia ORPHA:60026
Generalized Epilepsy With Febrile Seizures Plus, Type 2
Generalized myoclonic seizure, Generalized non-motor (absence) seizure, Febrile seizure (within t... OMIM:604403
Epilepsy, Familial Temporal Lobe, 6
Focal impaired awareness seizure, Status epilepticus, Febrile seizure (within the age range of 3 ... OMIM:615697
Epilepsy, Idiopathic Generalized
Bilateral tonic-clonic seizure, Generalized myoclonic seizure, Generalized non-motor (absence) se... OMIM:600669
Epilepsy, Juvenile Myoclonic, Susceptibility To, 10
Bilateral tonic-clonic seizure, Generalized myoclonic seizure, Generalized non-motor (absence) se... OMIM:617924
Generalized Epilepsy With Febrile Seizures Plus, Type 4
Bilateral tonic-clonic seizure, Generalized tonic seizure, Generalized non-motor (absence) seizur... OMIM:609800
Epilepsy, Familial Temporal Lobe, 2
Febrile seizure (within the age range of 3 months to 6 years), Febrile status epilepticus, Bilate... OMIM:608096
Epilepsy, Idiopathic Generalized, Susceptibility To, 10
Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y... OMIM:613060
Intellectual Developmental Disorder, X-Linked 100
Bilateral tonic-clonic seizure, Generalized non-motor (absence) 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, Seizure, Myoclonus, Bilateral tonic-clonic seizure, Eyel... OMIM:618357
Developmental And Epileptic Encephalopathy 9
Convulsive status epilepticus, Generalized non-motor (absence) seizure, Focal-onset seizure, Foca... OMIM:300088
Immunodeficiency 75 With Lymphoproliferation
Hepatosplenomegaly, Follicular hyperplasia, Lymphadenopathy OMIM:619126
Mantle Cell Lymphoma
Splenomegaly, Lymphadenopathy ORPHA:52416
Myoclonic Epilepsy, Juvenile, Susceptibility To, 4
Bilateral tonic-clonic seizure, Generalized myoclonic seizure, Generalized non-motor (absence) se... OMIM:611364
Kerion Celsi
Lymphadenopathy ORPHA:499
Febrile Seizures, Familial, 11
Focal impaired awareness seizure, Bilateral tonic-clonic seizure, Febrile seizure (within the age... OMIM:614418
Benign Familial Infantile Epilepsy
Focal head nodding automatism seizure, Neonatal seizure, Limb myoclonus, Generalized non-motor (a... ORPHA:306
Juvenile Absence Epilepsy
Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y... 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
Recurrent tonsillitis, Splenomegaly, Lymphadenopathy OMIM:618852
Mast Cell Sarcoma
Mediastinal lymphadenopathy, Splenomegaly, Lymphadenopathy ORPHA:66661
Immunodeficiency 104
Splenomegaly, Lymphadenopathy OMIM:608971
Laryngeal Neuroendocrine Tumor
Chronic noninfectious lymphadenopathy, Elevated circulating carcinoembryonic antigen concentration ORPHA:100083
Fish-Eye Disease
Decreased HDL cholesterol concentration, Splenomegaly, Lymphadenopathy ORPHA:79292
Lymphoproliferative Syndrome 3
Hepatosplenomegaly, Lymphadenopathy OMIM:618261
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Increased circulating ferritin concentration, Hepatosplenomegaly, Splenomegaly, Lymphadenopathy, ... OMIM:613101
Alpha-Heavy Chain Disease
Hypocalcemia, Splenomegaly, Lymphadenopathy ORPHA:100025
Follicular Lymphoma
Mediastinal lymphadenopathy, Splenomegaly, Lymphadenopathy ORPHA:545
Hemophagocytic Lymphohistiocytosis, Familial, 4
Splenomegaly, Lymphadenopathy, Increased circulating ferritin concentration, Hypertriglyceridemia OMIM:603552
Burkitt Lymphoma
Abnormality of the spleen, Hyperuricemia, Abnormal lymph node morphology ORPHA:543
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Splenomegaly, Lymphadenopathy ORPHA:444463
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Splenomegaly, Lymphadenopathy ORPHA:86893
Immune Dysregulation, Autoimmunity, And Autoinflammation
Cervical lymphadenopathy, Inguinal lymphadenopathy, Abnormal circulating C-reactive protein conce... OMIM:620514
Immunodeficiency With Hyper-Igm, Type 5
Lymphadenopathy OMIM:608106
Immunodeficiency 27B
Generalized lymphadenopathy OMIM:615978
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia
Chronic noninfectious lymphadenopathy, Abnormal lymph node morphology ORPHA:97290
Familial Papillary Or Follicular Thyroid Carcinoma
Chronic noninfectious lymphadenopathy, Abnormal lymph node morphology ORPHA:319487
Familial Cold Autoinflammatory Syndrome 2
Elevated circulating C-reactive protein concentration, Splenomegaly, Lymphadenopathy OMIM:611762
Immunodeficiency With Hyper-Igm, Type 2
Lymphadenopathy OMIM:605258
Immunodeficiency 27A
Hypoalbuminemia, Hepatosplenomegaly, Splenomegaly, Lymphadenopathy, Enlarged mesenteric lymph node OMIM:209950
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
Generalized lymphadenopathy, Splenomegaly, Hypertriglyceridemia OMIM:620282
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Cervical lymphadenopathy OMIM:618987
Autoimmune Lymphoproliferative Syndrome, Type Iii
Hepatosplenomegaly, Splenomegaly, Follicular hyperplasia, Generalized lymphadenopathy, Lymphadeno... OMIM:615559
Pfapa Syndrome
Splenomegaly, Lymphadenopathy ORPHA:42642
Mycosis Fungoides
Lymphadenopathy OMIM:254400
Immunodeficiency With Hyper-Igm, Type 4
Absence of lymph node germinal center OMIM:608184
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy OMIM:300853
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Elevated circulating C-reactive protein concentration, Abnormality of the lymphatic system, Abnor... ORPHA:54251
Heme Oxygenase 1 Deficiency
Increased circulating ferritin concentration, Cervical lymphadenopathy, Lymphadenopathy, Elevated... OMIM:614034
Immunodeficiency 64 With Lymphoproliferation
Cervical lymphadenopathy, Hepatosplenomegaly, Splenomegaly, Lymphadenopathy, Mediastinal lymphade... OMIM:618534
Immunodeficiency, Common Variable, 2
Splenomegaly, Follicular hyperplasia, Lymphadenopathy OMIM:240500
Systemic-Onset Juvenile Idiopathic Arthritis
Elevated circulating C-reactive protein concentration, Splenomegaly, Lymphadenopathy ORPHA:85414
Caspase 8 Deficiency
Splenomegaly, Lymphadenopathy OMIM:607271
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Lymph node hypoplasia, Splenomegaly, Aplasia of the thymus, Generalized lymphadenopathy, Absent t... OMIM:602450
Leukocyte Adhesion Deficiency, Type Iii
Hepatosplenomegaly, Splenomegaly, Abnormal lymph node morphology OMIM:612840
Cinca Syndrome
Elevated circulating C-reactive protein concentration, Hepatosplenomegaly, Lymphadenopathy OMIM:607115
Pleural Mesothelioma
Lymphadenopathy ORPHA:50251
Pseudomyxoma Peritonei
Lymphadenopathy ORPHA:26790
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies
Elevated circulating C-reactive protein concentration, Hepatosplenomegaly, Lymphadenopathy, Eleva... OMIM:619750
Immunodeficiency 52
Splenomegaly, Lymphadenopathy OMIM:617514
Griscelli Syndrome Type 2
Hyperlipidemia, Splenomegaly, Lymphadenopathy ORPHA:79477
Classic Mycosis Fungoides
Splenomegaly, Lymphadenopathy 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, Lymphadenopathy, Splenomegaly ORPHA:391
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hypoalbuminemia, Increased circulating ferritin concentration, Increased total bilirubin, Decreas... OMIM:267700
Schnitzler Syndrome
Splenomegaly, Lymphadenopathy ORPHA:37748
Activated Pi3K-Delta Syndrome
Splenomegaly, Recurrent tonsillitis, Lymphadenopathy ORPHA:397596
Immunodeficiency 105
Hepatosplenomegaly, Absence of lymph node germinal center OMIM:619924
Cold Agglutinin Disease
Splenomegaly, Lymphadenopathy ORPHA:56425
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Splenomegaly, Lymphadenopathy OMIM:618495
Leishmaniasis
Hypoalbuminemia, Splenomegaly, Lymphadenopathy ORPHA:507
Middle Ear Neuroendocrine Tumor
Chronic noninfectious lymphadenopathy ORPHA:100084
Tularemia
Cervical lymphadenopathy, Abnormal nasopharyngeal adenoid morphology, Mediastinal lymphadenopathy... ORPHA:3392
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Splenomegaly, Lymphadenopathy OMIM:150550
Indolent Systemic Mastocytosis
Splenomegaly, Lymphadenopathy ORPHA:98848
Immunodeficiency 54
Splenomegaly, Lymphadenopathy OMIM:609981
Congenital Toxoplasmosis
Lymphadenopathy ORPHA:858
Rhabdoid Tumor
Hypercalcemia, Lymphadenopathy ORPHA:69077
Lymphoproliferative Syndrome, X-Linked, 1
Elevated circulating C-reactive protein concentration, Splenomegaly, Lymphadenopathy, Hypoalbumin... OMIM:308240
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Splenomegaly, Lymphadenopathy OMIM:619375
Immunodeficiency 7
Splenomegaly, Lymphadenopathy OMIM:615387
Macrophage Activation Syndrome
Hypoalbuminemia, Increased circulating ferritin concentration, Splenomegaly, Lymphadenopathy, Hyp... ORPHA:158061
Immunodeficiency, Common Variable, 1
Splenomegaly, Lymphadenopathy OMIM:607594
Ras-Associated Autoimmune Leukoproliferative Disorder
Splenomegaly, Follicular hyperplasia OMIM:614470
Lymphoproliferative Syndrome 1
Elevated circulating C-reactive protein concentration, Splenomegaly, Lymphadenopathy, Increased c... OMIM:613011
Lymphoproliferative Syndrome 2
Splenomegaly, Hepatosplenomegaly, Lymphadenopathy OMIM:615122
Meige Disease
Lymph node hypoplasia, Absence of lymph node germinal center ORPHA:90186
Nephroblastoma
Lymphadenopathy ORPHA:654
Omenn Syndrome
Hypoplasia of the thymus, Hypoproteinemia, Splenomegaly, Lymphadenopathy OMIM:603554
Proteasome-Associated Autoinflammatory Syndrome 2
Elevated circulating C-reactive protein concentration, Lymphadenopathy OMIM:618048
Purine Nucleoside Phosphorylase Deficiency
Hypouricemia, Lymph node hypoplasia, Splenomegaly, Increased circulating inosine concentration, I... OMIM:613179
Tafro Syndrome
Elevated circulating C-reactive protein concentration, Hepatosplenomegaly, Splenomegaly, Lymphade... ORPHA:457077
Thyroid Lymphoma
Lymphadenopathy ORPHA:97285
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hypoalbuminemia, Increased circulating ferritin concentration, Increased total bilirubin, Hepatos... OMIM:603553
Castleman Disease
Follicular hyperplasia, Generalized lymphadenopathy, Lymphadenopathy, Elevated circulating C-reac... ORPHA:160
Immunodeficiency 91 And Hyperinflammation
Elevated circulating C-reactive protein concentration, Hepatosplenomegaly, Lymphadenopathy OMIM:619644
Acquired Hypertrichosis Lanuginosa
Lymphadenopathy ORPHA:2221
Squamous Cell Carcinoma Of The Anal Canal
Lymphadenopathy ORPHA:424019
Griscelli Syndrome
Bone marrow hypocellularity, Abnormal circulating lipid concentration, Lymphadenopathy, Splenomegaly ORPHA:381
Combined Immunodeficiency Due To Zap70 Deficiency
Hepatosplenomegaly, Lymphadenitis, Lymphadenopathy, Abnormal lymph node morphology ORPHA:911
Papa Syndrome
Lymphadenopathy ORPHA:69126
Immunodeficiency 97 With Autoinflammation
Increased circulating ferritin concentration, Hepatosplenomegaly, Splenomegaly, Lymphadenopathy, ... OMIM:619802
Adult-Onset Still Disease
Bone marrow hypocellularity, Abnormal circulating lipid concentration, Increased circulating ferr... ORPHA:829
Desmoplastic Small Round Cell Tumor
Mediastinal lymphadenopathy, Lymphadenopathy ORPHA:83469
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Recurrent tonsillitis, Lymphadenitis, Hepatosplenomegaly, Splenomegaly, Lymphadenopathy OMIM:618935
Proteasome-Associated Autoinflammatory Syndrome 4
Splenomegaly, Lymphadenopathy OMIM:619183
Roifman Syndrome
Splenomegaly, Lymphadenopathy OMIM:616651
Thymic Neuroendocrine Tumor
Neoplasm of the thymus, Mediastinal lymphadenopathy, Hypercalcemia, Chronic noninfectious lymphad... ORPHA:97289
Roifman Syndrome
Hepatosplenomegaly, Lymphadenopathy ORPHA:353298
Boutonneuse Fever
Cervical lymphadenopathy, Lymphadenopathy ORPHA:83313
Deafness-Lymphedema-Leukemia Syndrome
Bone marrow hypocellularity, Lymphadenopathy, Splenomegaly ORPHA:3226
Hereditary Amyloidosis With Primary Renal Involvement
Abnormal lymph node morphology, Elevated circulating creatinine concentration, Hepatosplenomegaly... ORPHA:85450
Pancreatoblastoma
Abnormal lymph node morphology ORPHA:677
Autoimmune Lymphoproliferative Syndrome
Splenomegaly, Chronic noninfectious lymphadenopathy, Follicular hyperplasia OMIM:601859
Autoimmune Lymphoproliferative Syndrome, Type Iia
Splenomegaly, Chronic noninfectious lymphadenopathy, Follicular hyperplasia, Lymphadenopathy 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
Splenomegaly, Lymphadenopathy ORPHA:3162
Cinca Syndrome
Elevated circulating C-reactive protein concentration, Splenomegaly, Lymphadenopathy ORPHA:1451
Carcinoid Syndrome
Abnormal circulating B-type natriuretic peptide concentration, Chronic noninfectious lymphadenopathy ORPHA:100093
Familial Hemophagocytic Lymphohistiocytosis
Hypoalbuminemia, Increased circulating ferritin concentration, Splenomegaly, Lymphadenopathy, Hyp... ORPHA:540
Niemann-Pick Disease, Type A
Splenomegaly, Lymphadenopathy OMIM:257200
Scrub Typhus
Splenomegaly, Lymphadenopathy ORPHA:83317
Anaplastic Thyroid Carcinoma
Lymphadenopathy ORPHA:142
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Lymphadenitis, Splenomegaly, Elevated circulating creatine kinase concentration, Lymphadenopathy,... OMIM:615895
Medullary Thyroid Carcinoma
Lymphadenopathy ORPHA:1332
Primary Myelofibrosis
Splenomegaly, Hepatosplenomegaly, Lymphadenopathy ORPHA:824
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Elevated circulating C-reactive protein concentration, Lymphadenopathy OMIM:617099
American Trypanosomiasis
Splenomegaly, Lymphadenopathy ORPHA:3386
Acute Interstitial Pneumonia
Elevated circulating C-reactive protein concentration, Elevated circulating creatinine concentrat... ORPHA:79126
Melkersson-Rosenthal Syndrome
Lymphadenopathy ORPHA:2483
Mevalonic Aciduria
Fluctuating splenomegaly, Hepatosplenomegaly, Elevated circulating creatine kinase concentration,... OMIM:610377
Cyclic Neutropenia
Cervical lymphadenopathy, Recurrent tonsillitis, Lymphadenopathy ORPHA:2686
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Splenomegaly, Lymphadenopathy OMIM:616100
Immunodeficiency 98 With Autoinflammation, X-Linked
Bone marrow hypocellularity, Lymphadenopathy, Splenomegaly OMIM:301078
Diffuse Cutaneous Mastocytosis
Abnormality of the spleen, Lymphadenopathy ORPHA:79456
Legionnaires Disease
Hyponatremia, Bone marrow hypocellularity, Lymphadenopathy, Splenomegaly ORPHA:549
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Absent peripheral lymph nodes in presence of infection ORPHA:98813
Aggressive Systemic Mastocytosis
Hepatosplenomegaly, Lymphadenopathy, Hypersplenism ORPHA:98850
Omenn Syndrome
Splenomegaly, Lymphadenopathy ORPHA:39041
Gamma-Heavy Chain Disease
Splenomegaly, Lymphadenopathy ORPHA:100026
Joint Contractures, Osteochondromas, And B-Cell Lymphoma
Generalized lymphadenopathy OMIM:620232
Immunodeficiency 10
Splenomegaly, Lymphadenopathy OMIM:612783
Combined Immunodeficiency Due To Crac Channel Dysfunction
Splenomegaly, Lymphadenopathy ORPHA:169090
Felty Syndrome
Bone marrow hypocellularity, Lymphadenopathy, Splenomegaly ORPHA:47612
Multiple Myeloma
Elevated circulating creatinine concentration, Splenomegaly, Lymphadenopathy, Hyperproteinemia, H... ORPHA:29073
Proteasome-Associated Autoinflammatory Syndrome 3
Splenomegaly, Lymphadenopathy, Hypertriglyceridemia OMIM:617591
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Hepatosplenomegaly, Lymphadenopathy ORPHA:169154
Hypocomplementemic Urticarial Vasculitis
Splenomegaly, Lymphadenopathy ORPHA:36412
Cutaneous Neuroendocrine Carcinoma
Chronic noninfectious lymphadenopathy ORPHA:79140
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Cervical lymphadenopathy, Elevated circulating C-reactive protein concentration, Lymphadenopathy OMIM:617718
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
Enlarged tonsils, Splenomegaly, Absence of lymph node germinal center OMIM:308230
Mixed Connective Tissue Disease
Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy ORPHA:809
Immunodeficiency, Common Variable, 8, With Autoimmunity
Splenomegaly, Generalized lymphadenopathy, Lymphadenopathy OMIM:614700
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Splenomegaly, Lymphadenopathy ORPHA:436159
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Hepatosplenomegaly, Generalized lymphadenopathy, Lymphadenitis OMIM:618986
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Lymphadenopathy OMIM:304790
Pulmonary Capillary Hemangiomatosis
Mediastinal lymphadenopathy, Lymphadenopathy ORPHA:199241
Malt Lymphoma
Mediastinal lymphadenopathy, Lymphadenopathy ORPHA:52417
Lig4 Syndrome
Lymphadenopathy ORPHA:99812
Tangier Disease
Hypocholesterolemia, Hepatosplenomegaly, Chronic noninfectious lymphadenopathy, Orange discolored... ORPHA:31150
Aregenerative Anemia
Bone marrow hypocellularity, Lymphadenopathy ORPHA:101096
Kikuchi-Fujimoto Disease
Abnormal lymph node morphology, Cervical lymphadenopathy, Splenomegaly, Generalized lymphadenopat... ORPHA:50918
Neuroblastoma
Lymphadenopathy, Increased circulating ferritin concentration ORPHA:635
Graft Versus Host Disease
Hepatosplenomegaly, Hyperbilirubinemia, Lymphadenopathy ORPHA:39812
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Splenomegaly, Lymphadenitis, Lymphadenopathy OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Splenomegaly, Lymphadenitis, Lymphadenopathy OMIM:233710
Hyper-Igd Syndrome
Splenomegaly, Hepatosplenomegaly, Lymphadenitis, Lymphadenopathy OMIM:260920
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Hypoalbuminemia, Hypomagnesemia, Splenomegaly, Hypocalcemia, Decreased circulating prealbumin con... ORPHA:37042
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Splenomegaly, Lymphadenitis, Lymphadenopathy OMIM:233690
Lymphatic Filariasis
Lymphadenitis, Lymphadenopathy, Lymphangiectasis, Abnormality of the lymphatic system ORPHA:2035
Drug Reaction With Eosinophilia And Systemic Symptoms
Lymphadenopathy ORPHA:139402
Carney Triad
Mediastinal lymphadenopathy, Lymphadenopathy ORPHA:139411
Acute Promyelocytic Leukemia
Lymphadenopathy ORPHA:520
T-Cell Immunodeficiency With Thymic Aplasia
Hypocalcemic tetany, Aplasia of the thymus, Lymphadenopathy ORPHA:83471
Pediatric Systemic Lupus Erythematosus
Lymphadenopathy ORPHA:93552
Agammaglobulinemia, X-Linked
Lymph node hypoplasia OMIM:300755
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Accessory spleen, Polysplenia, Splenomegaly, Lymphadenopathy, Hypertriglyceridemia OMIM:619418
H Syndrome
Hepatosplenomegaly, Lymphadenopathy, Hypertriglyceridemia ORPHA:168569
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Hepatosplenomegaly, Absence of lymph node germinal center ORPHA:79124
Chédiak-Higashi Syndrome
Increased circulating ferritin concentration, Hepatosplenomegaly, Splenomegaly, Hyponatremia, Lym... ORPHA:167
Farber Disease
Hepatosplenomegaly, Lymphadenopathy ORPHA:333
Waldenström Macroglobulinemia
Splenomegaly, Lymphadenopathy ORPHA:33226
Immunodeficiency 55
Lymphadenopathy OMIM:617827
Acute Generalized Exanthematous Pustulosis
Lymphadenopathy ORPHA:293173
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Bone marrow hypocellularity, Hepatosplenomegaly, Splenomegaly, Lymphadenopathy, Elevated circulat... OMIM:615688
Poems Syndrome
Splenomegaly, Lymphadenopathy ORPHA:2905
Chediak-Higashi Syndrome
Splenomegaly, Lymphadenopathy OMIM:214500
Familial Pancreatic Carcinoma
Hepatosplenomegaly, Lymphadenopathy ORPHA:1333
Hennekam Syndrome
Hypocalcemia, Splenomegaly, Lymphadenopathy, Pulmonary lymphangiectasia, Lymphangioma ORPHA:2136
Histiocytosis-Lymphadenopathy Plus Syndrome
Cervical lymphadenopathy, Splenomegaly, Hepatosplenomegaly, Lymphadenopathy OMIM:602782
Common Variable Immunodeficiency
Splenomegaly, Lymphadenopathy ORPHA:1572
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
Splenomegaly, Lymphadenitis, Lymphadenopathy OMIM:306400
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome
Elevated circulating C-reactive protein concentration, Splenomegaly, Lymphadenopathy ORPHA:32960
Systemic Mastocytosis With Associated Hematologic Neoplasm
Splenomegaly, Lymphadenopathy ORPHA:98849
Q Fever
Splenomegaly, Hepatosplenomegaly, Lymphadenopathy ORPHA:781
Congenital Syphilis
Hepatosplenomegaly, Lymphadenopathy ORPHA:499009
Selective Igm Deficiency
Lymphadenitis, Lymphadenopathy ORPHA:331235
Spondyloenchondrodysplasia With Immune Dysregulation
Lymphadenopathy OMIM:607944
Lymphangioleiomyomatosis
Pulmonary lymphangiomyomatosis, Lymphadenopathy, Abnormality of the lymphatic system ORPHA:538
Immunodeficiency 31C
Splenomegaly, Lymphadenopathy OMIM:614162
Adenocarcinoma Of The Anal Canal
Lymphadenopathy ORPHA:424016
Gallbladder Neuroendocrine Tumor
Chronic noninfectious lymphadenopathy ORPHA:100086
Immunodeficiency 82 With Systemic Inflammation
Hypoalbuminemia, Splenomegaly, Follicular hyperplasia, Lymphadenopathy, Elevated circulating C-re... OMIM:619381
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis
Hepatosplenomegaly, Lymphadenopathy ORPHA:85408
Autoimmune Lymphoproliferative Syndrome
Bone marrow hypocellularity, Hypersplenism, Chronic noninfectious lymphadenopathy, Splenomegaly, ... ORPHA:3261
Marburg Hemorrhagic Fever
Hypoalbuminemia, Elevated circulating creatinine concentration, Hyperamylasemia, Hyperammonemia, ... ORPHA:99826
Autosomal Recessive Malignant Osteopetrosis
Splenomegaly, Hypophosphatemia, Lymphadenopathy, Hypocalcemia ORPHA:667
Igg4-Related Kidney Disease
Lymphadenitis, Decreased retinol-binding protein level, Elevated circulating creatinine concentra... ORPHA:449395
Coccidioidomycosis
Abnormality of the spleen, Mediastinal lymphadenopathy, Lymphadenopathy ORPHA:228123
Ileal Neuroendocrine Tumor
Lymphadenopathy ORPHA:100078
Brucellosis
Elevated circulating C-reactive protein concentration, Splenomegaly, Hypersplenism, Lymphadenopathy ORPHA:1304
Proteasome-Associated Autoinflammatory Syndrome 1
Splenomegaly, Hypertriglyceridemia, Lymphadenopathy, Decreased HDL cholesterol concentration, Ele... OMIM:256040
Familial Mediterranean Fever
Splenomegaly, Lymphadenopathy ORPHA:342
Chikungunya
Cervical lymphadenopathy, Lymphadenopathy ORPHA:324625
Igg4-Related Ophthalmic Disease
Elevated circulating C-reactive protein concentration, Lymphadenopathy ORPHA:449563
Igg4-Related Submandibular Gland Disease
Lymphadenopathy ORPHA:449432
Sarcoidosis
Hypercalcemia, Lymphadenopathy, Abnormal lymph node morphology ORPHA:797
Crimean-Congo Hemorrhagic Fever
Splenomegaly, Lymphadenopathy, Elevated circulating creatine kinase concentration ORPHA:99827
Behçet Disease
Splenomegaly, Lymphadenopathy ORPHA:117
Leptospirosis
Hyperproteinemia, Lymphadenopathy ORPHA:509
Igg4-Related Dacryoadenitis And Sialadenitis
Lymphadenopathy ORPHA:79078
Primary Sjögren Syndrome
Lymphadenopathy ORPHA:289390
Systemic Lupus Erythematosus
Lymphadenopathy ORPHA:536
Blau Syndrome
Splenomegaly, Lymphadenopathy ORPHA:90340
Cushing Syndrome Due To Ectopic Acth Secretion
Neoplasm of the thymus, Abnormal lymph node morphology ORPHA:99889
African Trypanosomiasis
Splenomegaly, Hepatosplenomegaly, Lymphadenopathy 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

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