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Gene: Cntn3 MGI:99534

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Gene Summary

Name:
contactin 3
Synonyms:
Pang

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 triglyceride level Cntn3em1(IMPC)Marc HOM Early adult 3.51×10-05
thick ventricular wall Cntn3em1(IMPC)Marc HOM Early adult 4.69×10-07
increased blood urea nitrogen level Cntn3em1(IMPC)Marc HOM Early adult 2.14×10-05

Download data as:  TSV  XLS

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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.

Phenotype associated images not available

Human diseases caused by Cntn3 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 Cntn3 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Hypertriglyceridemia 2
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia OMIM:619324
Atherosclerosis Susceptibility
Hypertriglyceridemia, Decreased HDL cholesterol concentration OMIM:108725
Hypoalphalipoproteinemia, Primary, 1
Hypertriglyceridemia, Decreased HDL cholesterol concentration OMIM:604091
Fish-Eye Disease
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Increased LDL cholesterol concentr... OMIM:136120
Cholesterol-Ester Transfer Protein Deficiency
Hypotriglyceridemia, Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholesterolemi... ORPHA:79506
Hypercholesterolemia, Familial, 4
Hypertriglyceridemia, Decreased LDL cholesterol concentration, Hypercholesterolemia OMIM:603813
Hyperlipoproteinemia, Type Ii, And Deafness
Hypertriglyceridemia, Increased LDL cholesterol concentration, Hypercholesterolemia OMIM:144300
Glycogen Storage Disease Vi
Hypertriglyceridemia, Hypercholesterolemia, Hyperlipidemia OMIM:232700
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Hypertriglyceridemia ORPHA:366
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2
Hypervalinemia, Hyperisoleucinemia, Hyperleucinemia, Increased blood urea nitrogen, Hyperammonemia OMIM:620085
Proteasome-Associated Autoinflammatory Syndrome 5
Hypertriglyceridemia OMIM:619175
Hypertriglyceridemia 1
Hypertriglyceridemia, Increased VLDL cholesterol concentration OMIM:145750
Lipase Deficiency, Combined
Hypertriglyceridemia OMIM:246650
Coronary Artery Disease, Autosomal Dominant 2
Hypertriglyceridemia, Increased LDL cholesterol concentration OMIM:610947
Hepatic Lipase Deficiency
Hypertriglyceridemia, Increased HDL cholesterol concentration, Hypercholesterolemia OMIM:614025
Morbid Obesity And Spermatogenic Failure
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia, Increased LD... OMIM:615703
Hyperlipidemia Due To Hepatic Triacylglycerol Lipase Deficiency
Hypertriglyceridemia, Increased HDL cholesterol concentration ORPHA:140905
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive
Hypertriglyceridemia, Increased LDL cholesterol concentration, Elevated circulating creatine kina... OMIM:616516
Hyperlipidemia, Familial Combined, 3
Xanthelasma, Increased LDL cholesterol concentration, Hyperlipidemia, Increased VLDL cholesterol ... OMIM:144250
Lecithin:Cholesterol Acyltransferase Deficiency
Hypertriglyceridemia, Decreased HDL cholesterol concentration OMIM:245900
Hemophagocytic Lymphohistiocytosis, Familial, 3
Hypertriglyceridemia OMIM:608898
Glycogen Storage Disease Ixa1
Hypertriglyceridemia, Hypercholesterolemia, Hyperuricemia OMIM:306000
Combined Oxidative Phosphorylation Deficiency 34
Increased blood urea nitrogen, Elevated circulating creatinine concentration OMIM:617872
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome
Hypertriglyceridemia ORPHA:436182
Hypertriglyceridemia, Transient Infantile
Hypertriglyceridemia OMIM:614480
Encephalopathy, Progressive, With Or Without Lipodystrophy
Hypertriglyceridemia OMIM:615924
Niemann-Pick Disease, Type B
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Increased LDL cholesterol concentr... OMIM:607616
Interstitial Nephritis, Karyomegalic
Increased blood urea nitrogen, Elevated circulating creatinine concentration OMIM:614817
Obesity Due To Melanocortin 4 Receptor Deficiency
Hypertriglyceridemia ORPHA:71529
Body Mass Index Quantitative Trait Locus 19
Hypertriglyceridemia, Hyperlipidemia OMIM:617885
Drug-Induced Lupus Erythematosus
Elevated circulating C-reactive protein concentration, Elevated circulating creatine kinase conce... ORPHA:231111
Cholesteryl Ester Storage Disease
Hypertriglyceridemia, Hypercholesterolemia ORPHA:75234
Abdominal Obesity-Metabolic Syndrome 4
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Increased LDL cholesterol concentr... OMIM:618620
Citrullinemia, Type Ii, Neonatal-Onset
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Elevated plasma citrulline, Increa... OMIM:605814
Lipodystrophy, Congenital Generalized, Type 3
Hypertriglyceridemia, Hypercholesterolemia, Hypocalcemia OMIM:612526
Hypobetalipoproteinemia, Familial, 1
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Steatorrhea, Decreased LDL cholest... OMIM:615558
Nephrotic Syndrome, Type 2
Hypoalbuminemia, Hyperlipidemia OMIM:600995
Apolipoprotein C-Ii Deficiency
Hypertriglyceridemia, Decreased circulating apolipoprotein C-II concentration, Hypercholesterolem... OMIM:207750
Diarrhea 7, Protein-Losing Enteropathy Type
Hypoalbuminemia, Hypercholesterolemia, Hyperlipidemia OMIM:615863
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hypertriglyceridemia, Increased circulating ferritin concentration OMIM:603552
Citrullinemia, Type Ii, Adult-Onset
Hypertriglyceridemia, Hyperammonemia, Elevated plasma citrulline, Hyperargininemia OMIM:603471
Protoporphyria, Erythropoietic, 1
Hypertriglyceridemia OMIM:177000
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Hypertriglyceridemia, Restrictive cardiomyopathy, Right atrial enlargement, Pericardial effusion,... OMIM:619313
Tangier Disease
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Decreased circulating apolipoprote... OMIM:205400
Lipodystrophy, Familial Partial, Type 4
Hypertriglyceridemia OMIM:613877
Immunodeficiency 109 With Lymphoproliferation
Hypertriglyceridemia OMIM:620282
Lymphoproliferative Syndrome, X-Linked, 2
Hypertriglyceridemia, Increased circulating ferritin concentration OMIM:300635
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Increased blood urea nitrogen, Elevated circulating creatinine concentration OMIM:612924
Plin1-Related Familial Partial Lipodystrophy
Hypertriglyceridemia ORPHA:280356
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hypertriglyceridemia, Increased circulating ferritin concentration OMIM:613101
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Increased blood urea nitrogen, Elevated circulating creatinine concentration OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Increased blood urea nitrogen, Elevated circulating creatinine concentration OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Increased blood urea nitrogen, Elevated circulating creatinine concentration OMIM:612926
Abdominal Obesity-Metabolic Syndrome 3
Hypertriglyceridemia, Increased LDL cholesterol concentration, Hypercholesterolemia, Coronary art... OMIM:615812
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hypertriglyceridemia, Abnormal circulating lipid concentration, Decreased HDL cholesterol concent... ORPHA:247598
Lcat Deficiency
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Decreased circulating apolipoprote... ORPHA:650
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Increased blood urea nitrogen, Hyponatremia, Hypomagnesemia, Hyperuricemia OMIM:613845
Lactic Acidosis, Chronic Adult Form
Hyperuricemia OMIM:150170
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Increased blood urea nitrogen, Elevated circulating creatinine concentration OMIM:612925
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency
Hyperlipidemia, Hyperuricemia ORPHA:364
Lipodystrophy, Familial Partial, Type 1
Hypertriglyceridemia OMIM:608600
Lipodystrophy, Familial Partial, Type 5
Hypertriglyceridemia, Increased C-peptide level OMIM:615238
Lipodystrophy, Familial Partial, Type 3
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hyperuricemia OMIM:604367
Hypouricemia, Familial Renal, Due To Tubular Hypersecretion
Hypouricemia OMIM:307830
Glycogen Storage Disease Iii
Hyperlipidemia, Ventricular hypertrophy, Cardiomyopathy, Elevated circulating creatine kinase con... OMIM:232400
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Increased blood urea nitrogen, Elevated circulating creatinine concentration, Hyperlipidemia OMIM:235400
Uremic Pruritus
Increased blood urea nitrogen, Hypermagnesemia, Renal hypophosphatemia, Hypercalcemia ORPHA:94059
Immunodeficiency 114, Folate-Responsive
Hypertriglyceridemia, Increased circulating ferritin concentration OMIM:620603
Smith-Magenis Syndrome
Hypertriglyceridemia, Abnormal heart morphology, Hypercholesterolemia OMIM:182290
Rajab Interstitial Lung Disease With Brain Calcifications 2
Hypertriglyceridemia, Hypoalbuminemia OMIM:619013
Hyperlipoproteinemia, Type Id
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Increased circulating chylomicron ... OMIM:615947
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Increased LDL cholesterol concentr... OMIM:267700
Orthostatic Hypotension 1
Increased blood urea nitrogen, Hypomagnesemia, Elevated circulating dihydroxyphenylacetic acid co... OMIM:223360
Citrullinemia Type Ii
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Elevated plasma citrulline, Hypopr... ORPHA:247585
Hereditary Renal Hypouricemia
Hypouricemia, Increased blood urea nitrogen ORPHA:94088
Idiopathic Steroid-Resistant Nephrotic Syndrome
Hypertriglyceridemia, Hypoalbuminemia, Hypercholesterolemia, Abnormal circulating lipid concentra... ORPHA:567548
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Hypertriglyceridemia, Increased circulating ferritin concentration OMIM:618398
Temple Syndrome
Hypertriglyceridemia, Hypercholesterolemia OMIM:616222
Glycosylphosphatidylinositol Biosynthesis Defect 17
Hypertriglyceridemia OMIM:618010
Severe Neurodegenerative Syndrome With Lipodystrophy
Hypertriglyceridemia ORPHA:363400
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Hypertriglyceridemia, Hyperbilirubinemia, Increased circulating ferritin concentration, Elevated ... ORPHA:158057
Ataxia With Vitamin E Deficiency
Hypertriglyceridemia, Xanthelasma, Increased LDL cholesterol concentration, Hypercholesterolemia OMIM:277460
Akt2-Related Familial Partial Lipodystrophy
Hypertriglyceridemia ORPHA:79085
Congenital Generalized Lipodystrophy
Hypertriglyceridemia, Increased C-peptide level, Hypercholesterolemia, Hypertrophic cardiomyopathy ORPHA:528
Hyperlipoproteinemia, Type I
Lactescent serum, Hypercholesterolemia, Hyperlipidemia, Increased circulating chylomicron concent... OMIM:238600
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Hypertriglyceridemia, Increased LDL cholesterol concentration, Hypercholesterolemia ORPHA:209902
Thrombotic Thrombocytopenic Purpura, Hereditary
Increased blood urea nitrogen, Elevated circulating creatinine concentration OMIM:274150
Pparg-Related Familial Partial Lipodystrophy
Hypertriglyceridemia, Hypertrophic cardiomyopathy, Hyperuricemia ORPHA:79083
46,Xy Sex Reversal 4
Increased blood urea nitrogen, Elevated circulating creatinine concentration OMIM:154230
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Hypertriglyceridemia, Increased LDL cholesterol concentration, Elevated circulating creatine kina... ORPHA:98853
Emery-Dreifuss Muscular Dystrophy
Hypertriglyceridemia, Increased LDL cholesterol concentration, Elevated circulating creatine kina... ORPHA:261
Cholestasis-Lymphedema Syndrome
Hyperlipidemia, Conjugated hyperbilirubinemia OMIM:214900
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Hypertriglyceridemia, Dilated cardiomyopathy, Increased LDL cholesterol concentration, Elevated c... ORPHA:98855
Paternal Uniparental Disomy Of Chromosome 1
Increased blood urea nitrogen, Hypercalcemia ORPHA:251004
Focal Segmental Glomerulosclerosis 1
Hypoalbuminemia, Hyperlipidemia OMIM:603278
Nephrogenic Syndrome Of Inappropriate Antidiuresis
Decreased serum creatinine, Hyponatremia, Decreased circulating renin level, Reduced blood urea n... OMIM:300539
X-Linked Emery-Dreifuss Muscular Dystrophy
Hypertriglyceridemia, Increased LDL cholesterol concentration, Elevated circulating creatine kina... ORPHA:98863
Hypouricemia, Renal, 2
Hypouricemia OMIM:612076
Dysbetalipoproteinemia
Hypertriglyceridemia, Xanthelasma, Decreased HDL cholesterol concentration, Increased LDL cholest... ORPHA:412
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Increased blood urea nitrogen, Elevated circulating creatinine concentration OMIM:223900
Cholesteryl Ester Storage Disease
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Steatorrhea, Increased LDL cholest... OMIM:278000
Familial Partial Lipodystrophy, Dunnigan Type
Hypertriglyceridemia, Hypertrophic cardiomyopathy ORPHA:2348
Glycogen Storage Disease Ixc
Hypertriglyceridemia OMIM:613027
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Mildly elevated creatine kinase, Hyperlipidemia OMIM:604484
Hypouricemia, Hypercalcinuria, And Decreased Bone Density
Hypouricemia OMIM:242050
Cidec-Related Familial Partial Lipodystrophy
Hypertriglyceridemia ORPHA:435651
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Hypertriglyceridemia OMIM:615381
Dopamine Beta-Hydroxylase Deficiency
Increased blood urea nitrogen, Elevated circulating creatinine concentration ORPHA:230
Lipe-Related Familial Partial Lipodystrophy
Hypertriglyceridemia, Elevated circulating creatine kinase concentration ORPHA:435660
Macrophage Activation Syndrome
Hypertriglyceridemia, Hypoalbuminemia, Increased circulating ferritin concentration, Elevated cir... ORPHA:158061
Reni Syndrome
Hypertriglyceridemia, Hypoalbuminemia OMIM:617575
Smith-Magenis Syndrome
Hypertriglyceridemia, Hypercholesterolemia ORPHA:819
Griscelli Syndrome Type 1
Hyperlipidemia ORPHA:79476
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hypertriglyceridemia, Hypoproteinemia, Increased total bilirubin, Hyponatremia, Hypoalbuminemia, ... OMIM:603553
Diarrhea 10, Protein-Losing Enteropathy Type
Hypertriglyceridemia, Hypocalcemia, Pericardial effusion, Hyponatremia, Hypomagnesemia, Hypoalbum... OMIM:618183
Mandibuloacral Dysplasia
Hypertriglyceridemia, Increased circulating free fatty acid level, Hypercholesterolemia ORPHA:2457
Lipodystrophy, Familial Partial, Type 6
Abnormal circulating lipid concentration, Hyperlipidemia, Elevated circulating creatine kinase co... OMIM:615980
Obesity Due To Congenital Leptin Deficiency
Hypertriglyceridemia ORPHA:66628
Obesity Due To Leptin Receptor Gene Deficiency
Hypertriglyceridemia ORPHA:179494
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Hyperlipidemia, Hypertrophic cardiomyopathy ORPHA:369
Cockayne Syndrome Type 1
Increased blood urea nitrogen ORPHA:90321
Lysinuric Protein Intolerance
Hypertriglyceridemia, Hyperglycinemia, Decreased HDL cholesterol concentration, Elevated plasma c... ORPHA:470
Neutral Lipid Storage Disease With Ichthyosis
Hypertriglyceridemia, Abnormal circulating creatine kinase concentration, Cardiomyopathy ORPHA:98907
Familial Hemophagocytic Lymphohistiocytosis
Hypertriglyceridemia, Hypoalbuminemia, Increased circulating ferritin concentration ORPHA:540
Acquired Generalized Lipodystrophy
Hypertriglyceridemia, Cardiomyopathy, Abnormal circulating lipid concentration ORPHA:79086
Tangier Disease
Hypertriglyceridemia, Hypocholesterolemia, Coronary artery stenosis, Left ventricular hypertrophy ORPHA:31150
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal
Hypertriglyceridemia, Hypercholesterolemia OMIM:610644
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hypertriglyceridemia, Hypercholesterolemia, Cardiomyopathy, Elevated circulating creatine kinase ... ORPHA:264580
Immunodeficiency 97 With Autoinflammation
Hypertriglyceridemia, Increased circulating ferritin concentration OMIM:619802
Igg4-Related Retroperitoneal Fibrosis
Increased blood urea nitrogen, Elevated circulating creatinine concentration, Elevated circulatin... ORPHA:49041
Lmna-Related Cardiocutaneous Progeria Syndrome
Hypertriglyceridemia, Ventricular hypertrophy, Mitral valve calcification, Aortic valve stenosis,... ORPHA:363618
Seckel Syndrome 10
Hypertriglyceridemia, Ventricular hypertrophy, Elevated hemoglobin A1c OMIM:617253
Xp21 Deletion Syndrome
Hypertriglyceridemia, Elevated circulating creatine kinase concentration ORPHA:261476
Familial Chylomicronemia Syndrome
Hypertriglyceridemia, Hyperlipidemia, Increased circulating chylomicron concentration ORPHA:444490
Werner Syndrome
Hypertriglyceridemia, Elevated hemoglobin A1c OMIM:277700
Fanconi-Bickel Syndrome
Hypertriglyceridemia, Hypophosphatemia ORPHA:2088
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Hypertriglyceridemia, Hypercholesterolemia, Elevated circulating creatine kinase concentration ORPHA:79240
Neutral Lipid Storage Disease With Myopathy
Hypertriglyceridemia, Cardiomyopathy, Elevated circulating creatine kinase concentration OMIM:610717
Lipodystrophy, Congenital Generalized, Type 4
Hypertriglyceridemia, Elevated circulating creatine kinase concentration OMIM:613327
Gaisböck Syndrome
Hypertriglyceridemia, Hyperuricemia, Increased circulating renin level, Hyperproteinemia, Hyperch... ORPHA:90041
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypertrophic cardiomyopathy ORPHA:280365
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Hypertriglyceridemia, Restrictive cardiomyopathy, Abnormal heart morphology, Hypercalcemia, Atria... ORPHA:369837
Microtriplication 11Q24.1
Hyperlipidemia ORPHA:289522
Nephrotic Syndrome, Type 1
Hypoalbuminemia, Hypoproteinemia, Hyperlipidemia OMIM:256300
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Hyperlipidemia ORPHA:2089
Alstrom Syndrome
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hyperuricemia, Elevated hemoglobin... OMIM:203800
Congenital Analbuminemia
Hypoproteinemia, Hyperlipidemia, Hypoalbuminemia, Increased alpha-globulin, Hypercholesterolemia ORPHA:86816
Proteasome-Associated Autoinflammatory Syndrome 3
Hypertriglyceridemia OMIM:617591
Prader-Willi Syndrome
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia OMIM:176270
Classical-Like Ehlers-Danlos Syndrome Type 2
Hypertriglyceridemia, Pericardial effusion, Mitral valve prolapse ORPHA:536532
Lipodystrophy, Familial Partial, Type 2
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia OMIM:151660
Immunodeficiency 87 And Autoimmunity
Hypertriglyceridemia, Atrial septal defect, Atrioventricular canal defect, Hypokalemia, Elevated ... OMIM:619573
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Hyperlipidemia, Cardiomyopathy, Elevated circulating creatine kinase concentration, Hyperammonemi... ORPHA:228308
Aapoaiv Amyloidosis
Cardiac amyloidosis, Elevated circulating creatinine concentration, Hyperlipidemia, Hypertrophic ... ORPHA:439232
Combined Deficiency Of Factor V And Factor Viii
Hyperlipidemia, Hyperuricemia ORPHA:35909
Lysosomal Acid Lipase Deficiency
Hypertriglyceridemia, Hyperkalemia, Xanthelasma, Steatorrhea, Hyponatremia, Hypercholesterolemia ORPHA:275761
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hypertriglyceridemia, Xanthelasma, Hyperuricemia, Hyperlipidemia, Hypercholesterolemia ORPHA:79259
Chédiak-Higashi Syndrome
Hypertriglyceridemia, Hypoproteinemia, Pericardial effusion, Hyponatremia, Increased circulating ... ORPHA:167
Hemophagocytic Syndrome Associated With An Infection
Hypertriglyceridemia, Increased circulating ferritin concentration, Hyperproteinemia ORPHA:158048
Neutral Lipid Storage Myopathy
Hypertriglyceridemia, Abnormal circulating creatine kinase concentration, Cardiomyopathy ORPHA:98908
H Syndrome
Hypertriglyceridemia ORPHA:168569
Griscelli Syndrome Type 2
Hyperlipidemia ORPHA:79477
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Hypertriglyceridemia, Ventricular septal defect OMIM:619418
Methanol Poisoning
Hyperlipidemia ORPHA:31825
Chronic Visceral Acid Sphingomyelinase Deficiency
Hypertriglyceridemia, Abnormal circulating lipid concentration, Decreased HDL cholesterol concent... ORPHA:77293
Cholestasis-Lymphedema Syndrome
Hyperlipidemia ORPHA:1414
Familial Multiple Lipomatosis
Hyperlipidemia, Abnormal tricuspid valve morphology ORPHA:199276
19P13.12 Microdeletion Syndrome
Atrial septal defect, Ventricular septal defect, Hyperlipidemia ORPHA:254346
Alagille Syndrome 1
Hypertriglyceridemia, Tetralogy of Fallot, Atrial septal defect, Ventricular septal defect, Hyper... OMIM:118450
Mandibuloacral Dysplasia Progeroid Syndrome
Hypertriglyceridemia, Patent foramen ovale, Mitral valve calcification, Elevated hemoglobin A1c, ... OMIM:619127
Carnitine Palmitoyltransferase Ii Deficiency
Hyperlipidemia, Cardiomyopathy, Elevated circulating creatine kinase concentration, Decreased pla... ORPHA:157
Lipodystrophy, Congenital Generalized, Type 2
Hypertriglyceridemia, Ventricular septal hypertrophy, Elevated hemoglobin A1c, Hypertrophic cardi... OMIM:269700
Paroxysmal Nocturnal Hemoglobinuria
Increased blood urea nitrogen, Reduced haptoglobin level, Decreased circulating iron concentratio... ORPHA:447
Glycerol Kinase Deficiency
Hypertriglyceridemia, Hyperglycerolemia OMIM:307030
Lipodystrophy, Congenital Generalized, Type 1
Hypertriglyceridemia, Cardiomyopathy OMIM:608594
Proteasome-Associated Autoinflammatory Syndrome 1
Cardiomegaly, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Elevated circulating... OMIM:256040
Atypical Werner Syndrome
Aortic valve stenosis, Hypertriglyceridemia, Mitral valve prolapse, Aortic valve calcification ORPHA:79474
Primary Triglyceride Deposit Cardiomyovasculopathy
Hyperlipidemia, Cardiomyopathy, Elevated circulating creatine kinase concentration, Coronary arte... ORPHA:565612
Bardet-Biedl Syndrome
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Abnormal heart morphology, Cardiom... ORPHA:110
Glycogen Storage Disease Ia
Xanthelasma, Hyperlipidemia, Hyperuricemia OMIM:232200
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Paradoxical increased cortisol secretion on dexamethasone suppression test, Hyperlipidemia, Hyper... ORPHA:189427
Goodpasture Syndrome
Increased blood urea nitrogen OMIM:233450
Lipodystrophy, Familial Partial, Type 7
Hypertriglyceridemia, Hypercholesterolemia OMIM:606721
Wiedemann-Rautenstrauch Syndrome
Hypertriglyceridemia, Secundum atrial septal defect OMIM:264090
Schimke Immuno-Osseous Dysplasia
Hyperlipidemia ORPHA:1830
Parenteral Nutrition-Associated Cholestasis
Conjugated hyperbilirubinemia, Hyperlipidemia, Abnormal circulating fatty-acid concentration ORPHA:567983
Wiedemann-Rautenstrauch Syndrome
Pulmonic stenosis, Congenital malformation of the left heart, Hypertriglyceridemia, Dysplastic pu... ORPHA:3455
Mandibuloacral Dysplasia With Type B Lipodystrophy
Hyperlipidemia OMIM:608612
Glycogen Storage Disease Ib
Xanthelasma, Hyperlipidemia, Hyperuricemia OMIM:232220
Mandibuloacral Dysplasia With Type B Lipodystrophy
Calcinosis, Hyperlipidemia ORPHA:90154
Fabry Disease
Abnormal endocardium morphology, Abnormal circulating lipid concentration, Abnormal aortic valve ... ORPHA:324
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Hypoalbuminemia, Hyperlipidemia ORPHA:567546
Glycogen Storage Disease Ic
Xanthelasma, Hyperlipidemia, Hyperuricemia OMIM:232240
Mandibuloacral Dysplasia With Type A Lipodystrophy
Hyperlipidemia ORPHA:90153
Mandibuloacral Dysplasia With Type A Lipodystrophy
Calcinosis, Hypercholesterolemia, Hyperlipidemia OMIM:248370
Aromatase Deficiency
Hyperlipidemia ORPHA:91
Woodhouse-Sakati Syndrome
Hyperlipidemia OMIM:241080
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Hyponatremia, Hyperlipidemia ORPHA:293987
Alström Syndrome
Hypertriglyceridemia, Hyperlipidemia, Dilated cardiomyopathy, Myocardial fibrosis ORPHA:64
Homozygous Familial Hypercholesterolemia
Myocardial steatosis, Increased LDL cholesterol concentration, Hypercholesterolemia, Hyperlipidemia ORPHA:391665
Woodhouse-Sakati Syndrome
Hyperlipidemia ORPHA:3464

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 Cntn3

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 Cntn3.

No publications found that use IMPC mice or data for Cntn3.

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
Cntn3tm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells
Cntn3tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Cntn3em1(IMPC)Marc Deletion Mice

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