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Gene: Cntn5 MGI:3042287

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Gene Summary

Name:
contactin 5
Synonyms:
NB-2,  LOC244683,  A830025P08Rik,  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 1.95×10-15
enlarged lymph nodes Cntn5em1(IMPC)Mbp HOM Early adult 0.00
abnormal lymph node morphology Cntn5em1(IMPC)Mbp HOM Early adult 0.00

Download data as:  TSV  XLS

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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 Dorso Ventral

39 Images

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X-ray

XRay Images Whole Body Lateral Orientation

13 Images

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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
Seizures, Benign Familial Infantile, 2
Bilateral tonic-clonic seizure, Focal impaired awareness seizure OMIM:605751
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, Bilateral tonic-clonic seizure with focal onset, Deja vu aura OMIM:611630
Myoclonic Epilepsy, Juvenile, Susceptibility To, 4
Generalized myoclonic seizure, Bilateral tonic-clonic seizure OMIM:611364
Epilepsy, Familial Temporal Lobe, 5
Visually-induced seizure, Bilateral tonic-clonic seizure, Focal aware seizure, Focal impaired awa... OMIM:614417
Immunodeficiency 38 With Basal Ganglia Calcification
Lymphadenopathy OMIM:616126
Epilepsy, Familial Temporal Lobe, 8
Bilateral tonic-clonic seizure with focal onset, Focal aware autonomic seizure with epigastric se... OMIM:616461
Epilepsy, Familial Temporal Lobe, 1
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Focal autonomic ... OMIM:600512
Epilepsy, Idiopathic Generalized, Susceptibility To, 17
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At... OMIM:602477
Febrile Seizures, Familial, 1
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At... OMIM:121210
Febrile Seizures, Familial, 5
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At... OMIM:609255
Febrile Seizures, Familial, 6
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At... OMIM:609253
Febrile Seizures, Familial, 4
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At... OMIM:604352
Hepatic Venoocclusive Disease With Immunodeficiency
Absence of lymph node germinal center OMIM:235550
Seizures, Benign Familial Infantile, 5
Bilateral tonic-clonic seizure, Focal impaired awareness seizure OMIM:617080
Hereditary Progressive Mucinous Histiocytosis
Lymphadenopathy ORPHA:158025
Centralopathic Epilepsy
Focal-onset seizure, Bilateral tonic-clonic seizure with focal onset, Nocturnal seizures OMIM:117100
Pentosuria
Abnormal circulating carbohydrate concentration, Abnormality of circulating enzyme level ORPHA:2843
Reticuloendotheliosis, X-Linked
Hepatosplenomegaly, Lymphadenopathy OMIM:312500
Squamous Cell Carcinoma Of The Esophagus
Lymphadenopathy ORPHA:99977
Epilepsy, Idiopathic Generalized, Susceptibility To, 11
Generalized myoclonic seizure, Bilateral tonic-clonic seizure on awakening, Generalized non-motor... OMIM:607628
Generalized Epilepsy With Febrile Seizures Plus, Type 1
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ge... OMIM:604233
Generalized Epilepsy With Febrile Seizures Plus, Type 9
Bilateral tonic-clonic seizure, Tonic seizure, Generalized non-motor (absence) seizure, Focal imp... OMIM:616172
Seizures, Benign Familial Neonatal, 1
Febrile seizure (within the age range of 3 months to 6 years), Focal clonic seizure, Bilateral to... OMIM:121200
Succinic Semialdehyde Dehydrogenase Deficiency
Generalized myoclonic seizure, Bilateral tonic-clonic seizure, Status epilepticus ORPHA:22
Epilepsy, Idiopathic Generalized, Susceptibility To, 14
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Seizure, Generalized myo... OMIM:616685
Epilepsy, Myoclonic Juvenile
Morning myoclonic jerks, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure,... OMIM:254770
Pulmonary Nodular Lymphoid Hyperplasia
Mediastinal lymphadenopathy, Follicular hyperplasia ORPHA:60026
Generalized Epilepsy With Febrile Seizures Plus, Type 7
Bilateral tonic-clonic seizure, Focal-onset seizure, Generalized non-motor (absence) seizure, Feb... OMIM:613863
Generalized Epilepsy With Febrile Seizures Plus, Type 2
Bilateral tonic-clonic seizure, Focal hemiclonic seizure, Focal-onset seizure, Generalized non-mo... OMIM:604403
Epilepsy, Familial Temporal Lobe, 6
Bilateral tonic-clonic seizure with focal onset, Focal impaired awareness seizure, Status epilept... OMIM:615697
Epilepsy, Idiopathic Generalized
Generalized myoclonic seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) se... OMIM:600669
Epilepsy, Juvenile Myoclonic, Susceptibility To, 10
Generalized myoclonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Bil... OMIM:617924
Generalized Epilepsy With Febrile Seizures Plus, Type 4
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ge... OMIM:609800
Epilepsy, Familial Temporal Lobe, 2
Bilateral tonic-clonic seizure, Febrile status epilepticus, Focal impaired awareness seizure, Foc... OMIM:608096
Epilepsy, Idiopathic Generalized, Susceptibility To, 10
Bilateral tonic-clonic seizure, Focal-onset seizure, Generalized non-motor (absence) seizure, Gen... 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 myoclonic seizure, Bilateral tonic-clonic seizure on awakening, Generalized non-motor... OMIM:607631
Epilepsy, Idiopathic Generalized, Susceptibility To, 15
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Eyelid myoclonus, Seizur... OMIM:618357
Developmental And Epileptic Encephalopathy 9
Bilateral tonic-clonic seizure with generalized onset, Bilateral tonic-clonic seizure, Focal hemi... OMIM:300088
Immunodeficiency 75 With Lymphoproliferation
Hepatosplenomegaly, Lymphadenopathy, Follicular hyperplasia OMIM:619126
Mantle Cell Lymphoma
Splenomegaly, Lymphadenopathy ORPHA:52416
Kerion Celsi
Lymphadenopathy ORPHA:499
Febrile Seizures, Familial, 11
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Fo... OMIM:614418
Kimura Disease
Lymphadenopathy, Follicular hyperplasia ORPHA:482
Juvenile Absence Epilepsy
Generalized-onset seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizur... ORPHA:1941
Developmental And Epileptic Encephalopathy 24
Bilateral tonic-clonic seizure, Focal-onset seizure, Clonic seizure, Generalized non-motor (absen... OMIM:615871
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, Recurrent tonsillitis, Lymphadenopathy OMIM:618852
Mast Cell Sarcoma
Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy ORPHA:66661
Laryngeal Neuroendocrine Tumor
Elevated carcinoembryonic antigen level, Chronic noninfectious lymphadenopathy ORPHA:100083
Immunodeficiency 104
Splenomegaly, Lymphadenopathy OMIM:608971
Fish-Eye Disease
Splenomegaly, Decreased HDL cholesterol concentration, Lymphadenopathy ORPHA:79292
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, Lymphadenopathy... OMIM:613101
Hemophagocytic Lymphohistiocytosis, Familial, 4
Splenomegaly, Hypertriglyceridemia, Increased circulating ferritin concentration, Lymphadenopathy OMIM:603552
Lymphoproliferative Syndrome 3
Hepatosplenomegaly, Lymphadenopathy OMIM:618261
Burkitt Lymphoma
Abnormality of the spleen, Hyperuricemia, Abnormal lymph node morphology ORPHA:543
Alpha-Heavy Chain Disease
Splenomegaly, Hypocalcemia, Lymphadenopathy ORPHA:100025
Follicular Lymphoma
Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy ORPHA:545
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 Cold Autoinflammatory Syndrome 2
Splenomegaly, Elevated circulating C-reactive protein concentration, Lymphadenopathy OMIM:611762
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
Immunodeficiency 103, Susceptibility To Fungal Infections
Decreased serum iron, Lymphadenopathy OMIM:212050
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Splenomegaly, Lymphadenopathy OMIM:615513
Immunodeficiency 76
Splenomegaly, Lymphadenopathy OMIM:619164
Immunodeficiency With Hyper-Igm, Type 2
Lymphadenopathy OMIM:605258
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Lymphadenopathy, Fluctuating splenomegaly OMIM:619220
Immunodeficiency 27A
Splenomegaly, Enlarged mesenteric lymph node, Lymphadenopathy, Hepatosplenomegaly, Hypoalbuminemia OMIM:209950
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Hepatosplenomegaly, Lymphadenopathy OMIM:618982
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Lymphadenopathy, Follicular hyperplasia OMIM:619846
Immunodeficiency With Hyper-Igm, Type 3
Absence of lymph node germinal center OMIM:606843
Rosaï-Dorfman Disease
Lymphadenopathy ORPHA:158014
Generalized Eruptive Histiocytosis
Lymphadenopathy ORPHA:157991
Immunodeficiency 109 With Lymphoproliferation
Splenomegaly, Generalized lymphadenopathy, Hypertriglyceridemia OMIM:620282
Mu-Heavy Chain Disease
Splenomegaly, Lymphadenopathy ORPHA:100024
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Cervical lymphadenopathy OMIM:618987
Autoimmune Lymphoproliferative Syndrome, Type Iii
Generalized lymphadenopathy, Elevated circulating C-reactive protein concentration, Follicular hy... OMIM:615559
Systemic-Onset Juvenile Idiopathic Arthritis
Splenomegaly, Elevated circulating C-reactive protein concentration, Lymphadenopathy ORPHA:85414
Immunodeficiency 52
Splenomegaly, Lymphadenopathy OMIM:617514
Heme Oxygenase 1 Deficiency
Elevated circulating C-reactive protein concentration, Asplenia, Increased circulating ferritin c... OMIM:614034
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Abnormality of the lymphatic system, Elevated circulating C-reactive protein concentration, Abnor... ORPHA:54251
Immunodeficiency With Hyper-Igm, Type 4
Absence of lymph node germinal center OMIM:608184
Mycosis Fungoides
Lymphadenopathy OMIM:254400
Pfapa Syndrome
Splenomegaly, Lymphadenopathy ORPHA:42642
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy OMIM:300853
Immunodeficiency, Common Variable, 2
Splenomegaly, Follicular hyperplasia, Lymphadenopathy OMIM:240500
Immunodeficiency 64 With Lymphoproliferation
Splenomegaly, Mediastinal lymphadenopathy, Cervical lymphadenopathy, Lymphadenopathy, Hepatosplen... OMIM:618534
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Generalized lymphadenopathy, Aplasia of the thymus, Splenomegaly, Lymph node hypoplasia, Absent t... OMIM:602450
Leukocyte Adhesion Deficiency, Type Iii
Splenomegaly, Abnormal lymph node morphology, Hepatosplenomegaly OMIM:612840
Cinca Syndrome
Lymphadenopathy, Elevated circulating C-reactive protein concentration, Hepatosplenomegaly OMIM:607115
Pancreatoblastoma
Elevated maternal serum alpha-fetoprotein, Abnormal lymph node morphology ORPHA:677
Caspase 8 Deficiency
Splenomegaly, Lymphadenopathy OMIM:607271
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies
Elevated circulating amyloid A, Lymphadenopathy, Elevated circulating C-reactive protein concentr... OMIM:619750
Pseudomyxoma Peritonei
Lymphadenopathy ORPHA:26790
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hyponatremia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased VLDL chole... OMIM:267700
Pleural Mesothelioma
Lymphadenopathy ORPHA:50251
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
Griscelli Syndrome Type 2
Splenomegaly, Hyperlipidemia, Lymphadenopathy ORPHA:79477
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
Lymphoproliferative Syndrome, X-Linked, 1
Splenomegaly, Hypoalbuminemia, Elevated circulating C-reactive protein concentration, Lymphadenop... OMIM:308240
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Splenomegaly, Lymphadenopathy OMIM:618495
Classic Hodgkin Lymphoma
Splenomegaly, Bone marrow hypocellularity, Lymphadenopathy ORPHA:391
Cold Agglutinin Disease
Splenomegaly, Lymphadenopathy ORPHA:56425
Leishmaniasis
Splenomegaly, Hypoalbuminemia, Lymphadenopathy ORPHA:507
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Splenomegaly, Lymphadenopathy OMIM:150550
Middle Ear Neuroendocrine Tumor
Chronic noninfectious lymphadenopathy ORPHA:100084
Tularemia
Abnormal nasopharyngeal adenoid morphology, Cervical lymphadenopathy, Mediastinal lymphadenopathy... ORPHA:3392
Rhabdoid Tumor
Hypercalcemia, Lymphadenopathy ORPHA:69077
Macrophage Activation Syndrome
Hypertriglyceridemia, Elevated circulating C-reactive protein concentration, Splenomegaly, Increa... ORPHA:158061
Immunodeficiency 54
Splenomegaly, Lymphadenopathy OMIM:609981
Indolent Systemic Mastocytosis
Splenomegaly, Lymphadenopathy ORPHA:98848
Lymphoproliferative Syndrome 1
Splenomegaly, Increased circulating ferritin concentration, Elevated circulating C-reactive prote... OMIM:613011
Congenital Toxoplasmosis
Lymphadenopathy ORPHA:858
Immunodeficiency, Common Variable, 1
Splenomegaly, Lymphadenopathy OMIM:607594
Purine Nucleoside Phosphorylase Deficiency
Hypouricemia, Increased circulating guanosine concentration, Splenomegaly, Lymph node hypoplasia,... OMIM:613179
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Splenomegaly, Lymphadenopathy OMIM:619375
Ras-Associated Autoimmune Leukoproliferative Disorder
Splenomegaly, Follicular hyperplasia OMIM:614470
Immunodeficiency 7
Splenomegaly, Lymphadenopathy OMIM:615387
Meige Disease
Lymph node hypoplasia, Absence of lymph node germinal center ORPHA:90186
Omenn Syndrome
Hypoproteinemia, Splenomegaly, Hypoplasia of the thymus, Lymphadenopathy OMIM:603554
Nephroblastoma
Lymphadenopathy ORPHA:654
Lymphoproliferative Syndrome 2
Splenomegaly, Lymphadenopathy, Hepatosplenomegaly OMIM:615122
Immunodeficiency 10
Lymphadenopathy OMIM:612783
Proteasome-Associated Autoinflammatory Syndrome 2
Elevated circulating C-reactive protein concentration, Lymphadenopathy OMIM:618048
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hyponatremia, Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, L... OMIM:603553
Griscelli Syndrome
Splenomegaly, Abnormal circulating lipid concentration, Bone marrow hypocellularity, Lymphadenopathy ORPHA:381
Squamous Cell Carcinoma Of The Anal Canal
Lymphadenopathy ORPHA:424019
Immunodeficiency 91 And Hyperinflammation
Lymphadenopathy, Elevated circulating C-reactive protein concentration, Hepatosplenomegaly OMIM:619644
Acquired Hypertrichosis Lanuginosa
Lymphadenopathy ORPHA:2221
Combined Immunodeficiency Due To Zap70 Deficiency
Lymphadenitis, Abnormal lymph node morphology, Lymphadenopathy, Hepatosplenomegaly ORPHA:911
Immunodeficiency 97 With Autoinflammation
Hypertriglyceridemia, Splenomegaly, Mediastinal lymphadenopathy, Increased circulating ferritin c... OMIM:619802
Thyroid Lymphoma
Lymphadenopathy ORPHA:97285
Adult-Onset Still Disease
Generalized lymphadenopathy, Elevated circulating C-reactive protein concentration, Splenomegaly,... ORPHA:829
Papa Syndrome
Lymphadenopathy ORPHA:69126
Castleman Disease
Generalized lymphadenopathy, Elevated circulating C-reactive protein concentration, Follicular hy... ORPHA:160
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Splenomegaly, Lymphadenitis, Recurrent tonsillitis, Lymphadenopathy, Hepatosplenomegaly OMIM:618935
Hereditary Amyloidosis With Primary Renal Involvement
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... ORPHA:85450
Roifman Syndrome
Splenomegaly, Lymphadenopathy OMIM:616651
Desmoplastic Small Round Cell Tumor
Mediastinal lymphadenopathy, Lymphadenopathy ORPHA:83469
Proteasome-Associated Autoinflammatory Syndrome 4
Splenomegaly, Lymphadenopathy OMIM:619183
Deafness-Lymphedema-Leukemia Syndrome
Splenomegaly, Bone marrow hypocellularity, Lymphadenopathy ORPHA:3226
Roifman Syndrome
Lymphadenopathy, Hepatosplenomegaly ORPHA:353298
Autoimmune Lymphoproliferative Syndrome
Splenomegaly, Chronic noninfectious lymphadenopathy, Follicular hyperplasia OMIM:601859
Thymic Neuroendocrine Tumor
Neoplasm of the thymus, Mediastinal lymphadenopathy, Hypercalcemia, Chronic noninfectious lymphad... ORPHA:97289
Boutonneuse Fever
Cervical lymphadenopathy, Lymphadenopathy ORPHA:83313
Klatskin Tumor
Lymphadenopathy ORPHA:99978
Autoimmune Lymphoproliferative Syndrome, Type Iia
Splenomegaly, Follicular hyperplasia, Chronic noninfectious lymphadenopathy, Lymphadenopathy OMIM:603909
Sézary Syndrome
Splenomegaly, Lymphadenopathy ORPHA:3162
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Lymph node hypoplasia, Absent tonsils ORPHA:276
Cutaneous Mastocytoma
Lymphadenopathy ORPHA:79455
Cinca Syndrome
Splenomegaly, Elevated circulating C-reactive protein concentration, Lymphadenopathy ORPHA:1451
Melkersson-Rosenthal Syndrome
Lymphadenopathy ORPHA:2483
Pulmonary Non-Tuberculous Mycobacterial Infection
Lymphadenopathy ORPHA:411703
Familial Hemophagocytic Lymphohistiocytosis
Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, Lymphadenopathy... ORPHA:540
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Elevated circulating creatine kinase concentration, Splenomegaly, Lymphadenitis, Lymphadenopathy,... OMIM:615895
Niemann-Pick Disease, Type A
Splenomegaly, Lymphadenopathy OMIM:257200
Medullary Thyroid Carcinoma
Lymphadenopathy ORPHA:1332
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Elevated circulating C-reactive protein concentration, Lymphadenopathy OMIM:617099
Acute Interstitial Pneumonia
Elevated circulating creatinine concentration, Elevated circulating C-reactive protein concentrat... ORPHA:79126
Cyclic Neutropenia
Cervical lymphadenopathy, Recurrent tonsillitis, Lymphadenopathy ORPHA:2686
Carcinoid Syndrome
Chronic noninfectious lymphadenopathy, Abnormal B-type natriuretic peptide concentration ORPHA:100093
Mevalonic Aciduria
Elevated circulating creatine kinase concentration, Elevated circulating C-reactive protein conce... OMIM:610377
American Trypanosomiasis
Splenomegaly, Lymphadenopathy ORPHA:3386
Anaplastic Thyroid Carcinoma
Lymphadenopathy ORPHA:142
Scrub Typhus
Splenomegaly, Lymphadenopathy ORPHA:83317
Primary Myelofibrosis
Splenomegaly, Lymphadenopathy, Hepatosplenomegaly ORPHA:824
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Splenomegaly, Lymphadenopathy OMIM:616100
Immunodeficiency 98 With Autoinflammation, X-Linked
Splenomegaly, Bone marrow hypocellularity, Lymphadenopathy OMIM:301078
Diffuse Cutaneous Mastocytosis
Abnormality of the spleen, Lymphadenopathy ORPHA:79456
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Absent peripheral lymph nodes in presence of infection ORPHA:98813
Gamma-Heavy Chain Disease
Splenomegaly, Lymphadenopathy ORPHA:100026
Omenn Syndrome
Splenomegaly, Lymphadenopathy ORPHA:39041
Aggressive Systemic Mastocytosis
Hypersplenism, Lymphadenopathy, Hepatosplenomegaly ORPHA:98850
Legionnaires Disease
Hyponatremia, Splenomegaly, Bone marrow hypocellularity, Lymphadenopathy ORPHA:549
Joint Contractures, Osteochondromas, And B-Cell Lymphoma
Generalized lymphadenopathy OMIM:620232
Combined Immunodeficiency Due To Crac Channel Dysfunction
Splenomegaly, Lymphadenopathy ORPHA:169090
Multiple Myeloma
Hypercalcemia, Splenomegaly, Elevated circulating creatinine concentration, Lymphadenopathy, Hype... ORPHA:29073
Felty Syndrome
Splenomegaly, Bone marrow hypocellularity, Lymphadenopathy ORPHA:47612
Proteasome-Associated Autoinflammatory Syndrome 3
Splenomegaly, Hypertriglyceridemia, Lymphadenopathy OMIM:617591
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Cervical lymphadenopathy, Elevated circulating C-reactive protein concentration, Lymphadenopathy OMIM:617718
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Lymphadenopathy, Hepatosplenomegaly ORPHA:169154
Hypocomplementemic Urticarial Vasculitis
Splenomegaly, Lymphadenopathy ORPHA:36412
Cutaneous Neuroendocrine Carcinoma
Chronic noninfectious lymphadenopathy ORPHA:79140
Hyperimmunoglobulinemia D With Periodic Fever
Lymphadenopathy ORPHA:343
Tangier Disease
Orange discolored tonsils, Hypertriglyceridemia, Chronic noninfectious lymphadenopathy, Hepatospl... ORPHA:31150
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Enlarged tonsils, Lymphadenopathy, Hepatosplenomegaly OMIM:606367
Immunodeficiency With Hyper-Igm, Type 1
Splenomegaly, Enlarged tonsils, Absence of lymph node germinal center OMIM:308230
Mixed Connective Tissue Disease
Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy ORPHA:809
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Splenomegaly, Lymphadenopathy ORPHA:436159
Malt Lymphoma
Mediastinal lymphadenopathy, Lymphadenopathy ORPHA:52417
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Lymphadenopathy OMIM:304790
Graft Versus Host Disease
Lymphadenopathy, Hyperbilirubinemia, Hepatosplenomegaly ORPHA:39812
Kikuchi-Fujimoto Disease
Generalized lymphadenopathy, Elevated circulating C-reactive protein concentration, Splenomegaly,... ORPHA:50918
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Lymphadenitis, Generalized lymphadenopathy, Hepatosplenomegaly OMIM:618986
Lig4 Syndrome
Lymphadenopathy ORPHA:99812
Immunodeficiency, Common Variable, 8, With Autoimmunity
Splenomegaly, Generalized lymphadenopathy, Lymphadenopathy OMIM:614700
Aregenerative Anemia
Bone marrow hypocellularity, Lymphadenopathy ORPHA:101096
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, Lymphadenitis, Lymphadenopathy, Hepatosplenomegaly OMIM:260920
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Splenomegaly, Abnormal blood ion concentration, Lymphadenopathy, Hypoalbuminemia, Hypocalcemia, H... ORPHA:37042
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Splenomegaly, Lymphadenitis, Lymphadenopathy OMIM:233690
Pulmonary Capillary Hemangiomatosis
Mediastinal lymphadenopathy, Lymphadenopathy ORPHA:199241
Carney Triad
Mediastinal lymphadenopathy, Lymphadenopathy ORPHA:139411
T-Cell Immunodeficiency With Thymic Aplasia
Hypocalcemic tetany, Aplasia of the thymus, Lymphadenopathy ORPHA:83471
Acute Promyelocytic Leukemia
Lymphadenopathy ORPHA:520
Drug Reaction With Eosinophilia And Systemic Symptoms
Lymphadenopathy ORPHA:139402
Lymphatic Filariasis
Lymphadenitis, Abnormality of the lymphatic system, Lymphangiectasis, Lymphadenopathy ORPHA:2035
Agammaglobulinemia, X-Linked
Lymph node hypoplasia OMIM:300755
Chédiak-Higashi Syndrome
Hyponatremia, Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, L... ORPHA:167
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Accessory spleen, Hypertriglyceridemia, Splenomegaly, Lymphadenopathy, Polysplenia OMIM:619418
Pediatric Systemic Lupus Erythematosus
Lymphadenopathy ORPHA:93552
H Syndrome
Hypertriglyceridemia, Lymphadenopathy, Hepatosplenomegaly ORPHA:168569
Farber Disease
Lymphadenopathy, Hepatosplenomegaly ORPHA:333
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Absence of lymph node germinal center, Hepatosplenomegaly ORPHA:79124
Immunodeficiency 55
Lymphadenopathy OMIM:617827
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Elevated circulating C-reactive protein concentration, Splenomegaly, Lymphadenopathy, Hepatosplen... OMIM:615688
Waldenström Macroglobulinemia
Splenomegaly, Lymphadenopathy ORPHA:33226
Acute Generalized Exanthematous Pustulosis
Lymphadenopathy ORPHA:293173
Familial Pancreatic Carcinoma
Lymphadenopathy, Hepatosplenomegaly ORPHA:1333
Hennekam Syndrome
Splenomegaly, Pulmonary lymphangiectasia, Lymphadenopathy, Hypocalcemia, Lymphangioma ORPHA:2136
Chediak-Higashi Syndrome
Splenomegaly, Lymphadenopathy OMIM:214500
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome
Splenomegaly, Elevated circulating C-reactive protein concentration, Lymphadenopathy ORPHA:32960
Histiocytosis-Lymphadenopathy Plus Syndrome
Splenomegaly, Cervical lymphadenopathy, Lymphadenopathy, Hepatosplenomegaly OMIM:602782
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
Systemic Mastocytosis With Associated Hematologic Neoplasm
Splenomegaly, Lymphadenopathy ORPHA:98849
Granulomatous Disease, Chronic, X-Linked
Splenomegaly, Lymphadenitis, Lymphadenopathy OMIM:306400
Common Variable Immunodeficiency
Splenomegaly, Lymphadenopathy ORPHA:1572
Adenocarcinoma Of The Anal Canal
Lymphadenopathy ORPHA:424016
Poems Syndrome
Lymphadenopathy ORPHA:2905
Q Fever
Splenomegaly, Lymphadenopathy, Hepatosplenomegaly ORPHA:781
Selective Igm Deficiency
Lymphadenitis, Lymphadenopathy ORPHA:331235
Spondyloenchondrodysplasia With Immune Dysregulation
Lymphadenopathy OMIM:607944
Gallbladder Neuroendocrine Tumor
Chronic noninfectious lymphadenopathy ORPHA:100086
Immunodeficiency 82 With Systemic Inflammation
Elevated circulating C-reactive protein concentration, Follicular hyperplasia, Splenomegaly, Lymp... OMIM:619381
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis
Lymphadenopathy, Hepatosplenomegaly ORPHA:85408
Autosomal Recessive Malignant Osteopetrosis
Splenomegaly, Hypophosphatemia, Hypocalcemia, Lymphadenopathy ORPHA:667
Lymphangioleiomyomatosis
Pulmonary lymphangiomyomatosis, Abnormality of the lymphatic system, Lymphadenopathy ORPHA:538
Autoimmune Lymphoproliferative Syndrome
Chronic noninfectious lymphadenopathy, Hypersplenism, Splenomegaly, Lymphadenopathy, Bone marrow ... ORPHA:3261
Marburg Hemorrhagic Fever
Elevated circulating creatine kinase concentration, Hyperamylasemia, Elevated circulating creatin... ORPHA:99826
Immunodeficiency 31C
Splenomegaly, Lymphadenopathy OMIM:614162
Coccidioidomycosis
Abnormality of the spleen, Mediastinal lymphadenopathy, Lymphadenopathy ORPHA:228123
Familial Mediterranean Fever
Splenomegaly, Lymphadenopathy ORPHA:342
Igg4-Related Kidney Disease
Elevated circulating C-reactive protein concentration, Lymphadenitis, Elevated circulating creati... ORPHA:449395
Ileal Neuroendocrine Tumor
Lymphadenopathy ORPHA:100078
Brucellosis
Hypersplenism, Splenomegaly, Elevated circulating C-reactive protein concentration, Lymphadenopathy ORPHA:1304
Proteasome-Associated Autoinflammatory Syndrome 1
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Elevated circulating C-reactive pr... OMIM:256040
Igg4-Related Ophthalmic Disease
Elevated circulating C-reactive protein concentration, Lymphadenopathy ORPHA:449563
Chikungunya
Cervical lymphadenopathy, Lymphadenopathy ORPHA:324625
Igg4-Related Submandibular Gland Disease
Lymphadenopathy ORPHA:449432
Sarcoidosis
Abnormal lymph node morphology, Hypercalcemia, Lymphadenopathy ORPHA:797
Crimean-Congo Hemorrhagic Fever
Splenomegaly, Elevated circulating creatine kinase concentration, Lymphadenopathy ORPHA:99827
Behçet Disease
Splenomegaly, Lymphadenopathy ORPHA:117
Systemic Lupus Erythematosus
Lymphadenopathy ORPHA:536
Leptospirosis
Hyperproteinemia, Lymphadenopathy ORPHA:509
Igg4-Related Dacryoadenitis And Sialadenitis
Lymphadenopathy ORPHA:79078
Primary Sjögren Syndrome
Lymphadenopathy ORPHA:289390
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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