Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

cadherin 2
N-cadherin,  Ncad,  N-CAD

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Not Significant
Not tested


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

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Phenotype associated images not available

Human diseases caused by Cdh2 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.

The table below shows human diseases associated to Cdh2 by orthology or direct annotation.

Disease Similarity of
Matching phenotypes Source
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome
Atrioventricular canal defect, Dextrocardia OMIM:618929
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14
Right ventricular dilatation OMIM:618920

The table below shows human diseases predicted to be associated to Cdh2 by phenotypic similarity.

Disease Similarity of
Matching phenotypes Source
Cardiomegaly OMIM:227150
Myopathy, Congenital, With Structured Cores And Z-Line Abnormalities
Internally nucleated skeletal muscle fibers, Type 1 muscle fiber predominance, Abnormal Z disc mo... OMIM:618654
Left Ventricular Noncompaction 7
Left ventricular noncompaction, Left ventricular noncompaction cardiomyopathy OMIM:615092
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Dilated cardiomyopathy, Endocardial fibrosis, Left ventricular hypertrophy, Left ventricular nonc... OMIM:601493
Left Ventricular Noncompaction 10
Dilated cardiomyopathy, Left ventricular noncompaction OMIM:615396
Cardiomyopathy, Dilated, 1R
Dilated cardiomyopathy, Restrictive cardiomyopathy, Left ventricular hypertrophy, Left ventricula... OMIM:613424
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Cardiomyocyte hypertrophy, Endocardial fibroelastosis, Endocardial fibrosis, Left ventricular hyp... OMIM:612158
Left Ventricular Noncompaction 1
Ventricular septal defect, Patent ductus arteriosus, Hypoplastic left heart, Left ventricular hyp... OMIM:604169
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Contractures of the large joints, Cardiomegaly, Hydrocephalus OMIM:300886
Congenital Toxoplasmosis
Intrauterine growth retardation, Cardiomegaly, Hydrocephalus, Hepatomegaly ORPHA:858
Combined Oxidative Phosphorylation Deficiency 33
Hepatomegaly, Left ventricular hypertrophy, Cardiomegaly, Myopathy, Cardiomyopathy OMIM:617713
Left Ventricular Noncompaction 8
Dilated cardiomyopathy, Abnormal left ventricle morphology, Left ventricular noncompaction OMIM:615373
Cardiomyopathy, Dilated, 1D
Dilated cardiomyopathy, Left ventricular hypertrophy, Left ventricular noncompaction OMIM:601494
Cantu Syndrome
Pericardial effusion, Patent ductus arteriosus, Umbilical hernia, Congenital hypertrophy of left ... OMIM:239850
Danon Disease
EMG: myopathic abnormalities, Myocardial fibrosis, Generalized amyotrophy, Cardiomegaly, Dilated ... OMIM:300257
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Cardiomegaly ORPHA:88643
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
Increased intramyocellular lipid droplets, Flexion contracture, Abnormal mitochondria in muscle t... OMIM:252011
Mulibrey Nanism
Myocardial fibrosis, Growth delay, Hepatomegaly, Cardiomegaly, Short stature, Intrauterine growth... OMIM:253250
Carnitine Deficiency, Systemic Primary
Reduced muscle carnitine level, Endocardial fibroelastosis, Hepatomegaly, Cardiomegaly, Myopathy,... OMIM:212140
Ectodermal Dysplasia-Syndactyly Syndrome 2
Cardiomegaly OMIM:613576
Congenital Tricuspid Valve Dysplasia
Anomalous pulmonary venous return, Abnormal tricuspid valve leaflet morphology, Pericardial effus... ORPHA:555874
Timothy Syndrome
Ventricular septal defect, Patent ductus arteriosus, Cardiomegaly, Patent foramen ovale, Tetralog... OMIM:601005
Infantile Sialic Acid Storage Disease
Hepatomegaly, Cardiomegaly, Hydrocephalus, Splenomegaly OMIM:269920
Cardiomyopathy, Familial Hypertrophic, 4
Ventricular hypertrophy, Pericardial effusion, Hepatomegaly, Cardiomegaly, Ventricular septal hyp... OMIM:115197
Attrv30M Amyloidosis
Cardiomegaly, Cardiomyopathy ORPHA:85447
Mitochondrial Complex I Deficiency, Nuclear Type 36
Perimembranous ventricular septal defect, Limb hypertonia, Cardiomegaly OMIM:619170
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Intrauterine growth retardation, Ventricular hypertrophy, Cardiomegaly, Hypertrophic cardiomyopathy OMIM:619051
Neurooculocardiogenitourinary Syndrome
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Cardiomegaly, Patent f... OMIM:618652
Combined Oxidative Phosphorylation Deficiency 41
Intrauterine growth retardation, Cardiomegaly OMIM:618838
Neuraminidase Deficiency
Hepatomegaly, Splenomegaly, Cardiomegaly, Short stature, Skeletal muscle atrophy, Cardiomyopathy OMIM:256550
Cardiomyopathy, Familial Hypertrophic 27
Cardiomegaly OMIM:618052
Familial Atrial Myxoma
Pulmonic valve myxoma, Cardiomegaly, Cardiac myxoma, Bacterial endocarditis ORPHA:615
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Dilated cardiomyopathy, Cardiomegaly, Hepatomegaly OMIM:600649
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Hepatomegaly, Cardiomegaly OMIM:619064
Alpha-N-Acetylgalactosaminidase Deficiency
Cardiomegaly ORPHA:3137
Refsum Disease, Classic
Limb muscle weakness, Cardiomegaly, Cardiomyopathy OMIM:266500
Mucopolysaccharidosis, Type Iiib
Hepatomegaly, Asymmetric septal hypertrophy, Cardiomegaly, Splenomegaly OMIM:252920
Hypertrichotic Osteochondrodysplasia, Cantu Type
Abnormal heart valve morphology, Patent ductus arteriosus, Umbilical hernia, Cardiomegaly, Hypert... ORPHA:1517
Mitochondrial Complex Iv Deficiency, Nuclear Type 13
Patent ductus arteriosus, Left ventricular noncompaction, Hypertrophic cardiomyopathy OMIM:616501
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Distal arthrogryposis, Cardiomegaly, Skeletal muscle atrophy, Myopathy ORPHA:42
Aorta Coarctation
Abnormal left ventricular outflow tract morphology, Aortic valve atresia, Patent ductus arteriosu... ORPHA:1457
Gaucher Disease, Type Iiic
Mitral valve calcification, Hepatomegaly, Cardiomegaly, Mitral stenosis, Splenomegaly, Aortic val... OMIM:231005
Lethal Congenital Contracture Syndrome 10
Ventricular septal defect, Torticollis, Cardiomegaly, Overriding aorta, Intrauterine growth retar... OMIM:617022
Hemochromatosis, Type 1
Hepatomegaly, Cardiomegaly, Cardiomyopathy, Splenomegaly OMIM:235200
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Ventricular septal defect, Flexion contracture, Cardiomegaly, Intrauterine growth retardation, Hy... OMIM:616897
Paternal Uniparental Disomy Of Chromosome 6
Macroglossia, Ventricular septal defect, Patent ductus arteriosus, Umbilical hernia, Postnatal gr... ORPHA:96191
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Scapular winging, Muscular edema, Lower limb muscle weakness, Proximal muscle weakness in upper l... ORPHA:268
Carnitine Palmitoyltransferase I Deficiency
Hepatomegaly, Cardiomegaly OMIM:255120
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Abnormal atrioventricular valve morphology, Aortic valve stenosis, Cardiomegaly, Mitral valve pro... ORPHA:324410
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Cardiomegaly, Short stature OMIM:613320
Familial Aortic Dissection
Patent ductus arteriosus, Cardiomegaly ORPHA:229
Amyloidosis, Hereditary, Transthyretin-Related
Cardiomegaly, Cardiomyopathy OMIM:105210
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Hepatomegaly, Exercise-induced rhabdomyolysis, Cardiomegaly, Hypertrophic cardiomyopathy OMIM:201475
Glycogen Storage Disease Of Heart, Lethal Congenital
Macroglossia, Biventricular hypertrophy, Cardiomegaly, Myopathy, Cardiomyopathy OMIM:261740
Hsd10 Disease, Infantile Type
Cardiomegaly, Hypertrophic cardiomyopathy ORPHA:391428
Histiocytosis-Lymphadenopathy Plus Syndrome
Camptodactyly of finger, Atrial septal defect, Flexion contracture of finger, Ventricular septal ... OMIM:602782
Heterotaxy, Visceral, 1, X-Linked
Atrial septal defect, Single ventricle, Ventricular septal defect, Mitral atresia, Patent ductus ... OMIM:306955
Lethal Acantholytic Erosive Disorder
Intrauterine growth retardation, Cardiomegaly, Cardiomyopathy, Camptodactyly of toe ORPHA:158687
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Dilated cardiomyopathy, Hepatomegaly, Neonatal death, Left ventricular hypertrophy, Patent forame... OMIM:619167
Craniofaciofrontodigital Syndrome
Cardiomegaly, Short stature, Abnormal heart morphology OMIM:114620
Leigh Syndrome With Nephrotic Syndrome
Intrauterine growth retardation, Cardiomegaly ORPHA:255249
Developmental And Epileptic Encephalopathy 95
Macroglossia, Arthrogryposis multiplex congenita, Umbilical hernia, Hepatomegaly, Multiple joint ... OMIM:618143
Macroglossia, Flexion contracture, Hepatomegaly, Cardiomegaly, Short stature, Splenomegaly OMIM:230000
Beck-Fahrner Syndrome
Facial hypotonia, Cardiomegaly, Ventricular septal defect OMIM:618798
Naxos Disease
Dilated cardiomyopathy, Abnormal morphology of right ventricular trabeculae, Right ventricular ca... OMIM:601214
Cardiomyopathy, Dilated, 1S
Dilated cardiomyopathy, Left ventricular noncompaction, Bicuspid aortic valve OMIM:613426
Mucolipidosis Ii Alpha/Beta
Macroglossia, Diastasis recti, Umbilical hernia, Hepatomegaly, Cardiomegaly, Splenomegaly, Severe... OMIM:252500
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Increased muscle lipid content, Enlarged kidney, Hepatomegaly, Cardiomegaly, Knee flexion contrac... OMIM:608836
Gaucher Disease, Perinatal Lethal
Arthrogryposis multiplex congenita, Hepatomegaly, Cardiomegaly, Splenomegaly, Intrauterine growth... OMIM:608013
Sick Sinus Syndrome 2
Left ventricular noncompaction, Mitral valve prolapse, Left ventricular hypertrophy OMIM:163800
Glycogen Storage Disease Ii
Macroglossia, Firm muscles, Hepatomegaly, Cardiomegaly, Splenomegaly OMIM:232300
Symptomatic Form Of Hemochromatosis Type 1
Decreased muscle mass, Hepatomegaly, Cardiomegaly, Splenomegaly, Cardiomyopathy ORPHA:465508
Hepatomegaly, Decreased muscle mass, Cardiomegaly ORPHA:349
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy
Limb muscle weakness, Cardiomegaly, Cardiomyopathy OMIM:619259
Complete Atrioventricular Septal Defect
Complete atrioventricular canal defect, Displacement of the papillary muscles, Hepatomegaly, Righ... ORPHA:1329
Pseudo-Torch Syndrome 3
Cardiomegaly OMIM:618886
Truncus Arteriosus
Atrial septal defect, Truncus arteriosus, Abnormal heart morphology, Abnormal heart valve morphol... ORPHA:3384
Sandhoff Disease
Macroglossia, Hepatomegaly, Cardiomegaly, Skeletal muscle atrophy, Hepatosplenomegaly OMIM:268800
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Macroglossia, Facial hypotonia, Hepatomegaly, Left ventricular hypertrophy, Cardiomegaly, Hypertr... ORPHA:308552
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Atrial septal defect, Rhizomelia, Bicuspid aortic valve, Cardiomegaly, Left ventricular hypertrop... OMIM:245600
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Hepatomegaly, Cardiomegaly, Abnormal myocardium morphology, Hydrocephalus, Cardiomyopathy ORPHA:228308
Mucopolysaccharidosis Type 3
Macroglossia, Abnormal mitral valve morphology, Flexion contracture, Abnormal aortic valve morpho... ORPHA:581
Sickle Cell Anemia
Hepatomegaly, Cardiomegaly, Splenomegaly OMIM:603903
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome
Small hypothenar eminence, Hypoplasia of the musculature, Cardiomegaly, Thenar muscle atrophy ORPHA:2463
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Delayed puberty, Right... OMIM:300967
Bohring-Opitz Syndrome
Bilateral wrist flexion contracture, Facial hypotonia, Lower limb hypertonia, Congenital contract... ORPHA:97297
Greenberg Dysplasia
Stillbirth, Rhizomelia, Hepatomegaly, Neonatal death, Cardiomegaly, Hepatosplenomegaly, Dispropor... OMIM:215140
Glycogen Storage Disease Due To Acid Maltase Deficiency
EMG: myopathic abnormalities, Macroglossia, Facial hypotonia, Flexion contracture, Lower limb mus... ORPHA:365
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Hepatomegaly, Cardiomegaly OMIM:618278
Beckwith-Wiedemann Syndrome
Macroglossia, Diastasis recti, Enlarged kidney, Large placenta, Visceromegaly, Umbilical hernia, ... ORPHA:116
Visceral Steatosis, Congenital
Neonatal death, Myocardial steatosis OMIM:228100
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Patent ductus arteriosus, Cardiomegaly, Bicuspid aortic valve ORPHA:91387
Aicardi-Goutières Syndrome
Arrhinencephaly, Multiple joint contractures, Cardiomegaly, Short stature, Myositis, Hepatospleno... ORPHA:51
Histiocytoid Cardiomyopathy
Hepatomegaly, Cardiomegaly, Hydrocephalus, Ventricular septal defect ORPHA:137675
Hepatomegaly, Myopathy, Distal lower limb muscle weakness, Cardiomegaly ORPHA:14
Congenital Total Pulmonary Venous Return Anomaly
Cardiac total anomalous pulmonary venous connection, Atrial septal defect, Single ventricle, Vent... ORPHA:99125
Beckwith-Wiedemann Syndrome
Diastasis recti, Macroglossia, Enlarged kidney, Hepatomegaly, Pancreatic hyperplasia, Cardiomegal... OMIM:130650
Proteasome-Associated Autoinflammatory Syndrome 1
Camptodactyly of finger, Macroglossia, Flexion contracture of finger, Growth delay, Flexion contr... OMIM:256040
Alpha-N-Acetylgalactosaminidase Deficiency Type 2
Cardiomegaly ORPHA:79280
Tropical Endomyocardial Fibrosis
Coronary artery stenosis, Restrictive cardiomyopathy, Myocardial calcification, Hepatomegaly, Lef... ORPHA:75565
Yunis-Varon Syndrome
Atrial septal defect, Ventricular septal defect, Arrhinencephaly, Postnatal growth retardation, C... ORPHA:3472
Singleton-Merten Syndrome 1
Tendon rupture, Mitral valve calcification, Aortic valve stenosis, Cardiomegaly, Short stature, A... OMIM:182250
Williams Syndrome
Macroglossia, Atrial septal defect, Ventricular septal defect, Abnormal endocardium morphology, P... ORPHA:904
Generalized Arterial Calcification Of Infancy
Pericardial effusion, Ventricular hypertrophy, Cardiomegaly, Myocardial calcification ORPHA:51608
Homozygous Familial Hypercholesterolemia
Abnormal tendon morphology, Myocardial steatosis, Tendon xanthomatosis ORPHA:391665
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome
Atrioventricular canal defect, Dextrocardia OMIM:618929
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14
Right ventricular dilatation OMIM:618920


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 Cdh2

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 Cdh2.

There are 6 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
A Genome-Wide Screen in Mice To Identify Cell-Extrinsic Regulators of Pulmonary Metastatic Colonisation. G3 (Bethesda, Md.) (June 2020) Cdh23tm2b(EUCOMM)Wtsi Cdh23v PMC7263671
Neural circuits underlying auditory contrast gain control and their perceptual implications. Nature communications (January 2020) Cdh23ahl+em1H PMC6965083
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis. Nature communications (August 2019) Cdh23tm2b(EUCOMM)Wtsi Cdh23v Cdh23v PMC6671969
Mouse screen reveals multiple new genes underlying mouse and human hearing loss. PLoS biology (April 2019) Cdh23v PMC6459510
Genome wide in vivo mouse screen data from studies to assess host regulation of metastatic colonisation. Scientific data (September 2017) Cdh23tm2b(EUCOMM)Wtsi Cdh23v PMC5827107
Genetic background effects on age-related hearing loss associated with Cdh23 variants in mice. Hearing research (November 2011) Cdh23CBA/CaJ Cdh23ahl PMC3277672

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.

This service may be affected by the Covid-19 pandemic. See how

MGI Allele Allele Type Produced
Cdh2tm39522(L1L2_Pgk_PM) Targeting vectors
Cdh2tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Cdh2tm39522(L1L2_st0) Targeting vectors
Cdh2tm39522(L1L2_Pgk_P) Targeting vectors

The IMPC Newsletter

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

Subscribe to newsletter