Not currently registered for phenotyping at IMPC

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

Gene Summary

plakophilin 2
Pkp2l,  1200008D14Rik,  1200012P04Rik

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 Pkp2 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 Pkp2 by orthology or direct annotation.

The table below shows human diseases predicted to be associated to Pkp2 by phenotypic similarity.

Disease Similarity of
Matching phenotypes Source
Congenital Factor X Deficiency
Menorrhagia, Subarachnoid hemorrhage, Gingival bleeding, Post-partum hemorrhage, Prolonged prothr... ORPHA:328
Congenital Plasminogen Activator Inhibitor Type 1 Deficiency
Menorrhagia, Intracranial hemorrhage, Epidural hemorrhage, Post-partum hemorrhage, Joint hemorrha... ORPHA:465
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Dilated cardiomyopathy, Endocardial fibrosis, Ventricular arrhythmia, Left ventricular hypertroph... OMIM:601493
Left Ventricular Noncompaction 8
Dilated cardiomyopathy, Abnormal left ventricular function, Mitral regurgitation, Congestive hear... OMIM:615373
Left Ventricular Noncompaction 7
Left ventricular noncompaction cardiomyopathy, Left ventricular noncompaction OMIM:615092
Crimean-Congo Hemorrhagic Fever
Myocarditis, Subdural hemorrhage, Melena, Splenomegaly, Acute pancreatitis, Diffuse alveolar hemo... ORPHA:99827
Cardiomyopathy, Dilated, 1R
Dilated cardiomyopathy, Ventricular arrhythmia, Restrictive cardiomyopathy, Left ventricular hype... OMIM:613424
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Dilated cardiomyopathy, Endocardial fibrosis, Atrial fibrillation, Atrioventricular block, Endoca... OMIM:612158
Left Ventricular Noncompaction 1
Left ventricular noncompaction cardiomyopathy, Ventricular septal defect, Atrial fibrillation, Mi... OMIM:604169
Left Ventricular Noncompaction 10
Dilated cardiomyopathy, Left ventricular noncompaction OMIM:615396
Cardiomyopathy, Dilated, 1D
Dilated cardiomyopathy, Atrial fibrillation, Left ventricular hypertrophy, Congestive heart failu... OMIM:601494
Cardiomyopathy, Familial Hypertrophic, 4
Hypertrophic cardiomyopathy, Syncope, Myopathy, Hepatomegaly, Pericardial effusion, Ascites, Vent... OMIM:115197
Atrial Standstill
Syncope, Ventricular escape rhythm, Cardiac conduction abnormality, Abnormal P wave, Reduced ejec... ORPHA:1344
Primary Effusion Lymphoma
Abnormality of the peritoneum, Pleural effusion, Pericardial effusion ORPHA:48686
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma
Dilated cardiomyopathy, Ventricular tachycardia, Edema, Cardiomyocyte hypertrophy, Congestive hea... OMIM:605676
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Dilated cardiomyopathy, Syncope, Pericardial effusion, Ventricular arrhythmia, Atrial fibrillatio... ORPHA:300751
Hydrops Fetalis
Nonimmune hydrops fetalis, Pericardial effusion, Ascites, Capillary leak, Abnormal heart morpholo... ORPHA:1041
Lymphatic Malformation 8
Nonimmune hydrops fetalis, Pericardial effusion, Stillbirth, Polyhydramnios, Pleural effusion, Ge... OMIM:618773
Cardiomyopathy, Dilated, 1A
Dilated cardiomyopathy, Third degree atrioventricular block, Sinus bradycardia, Pericardial effus... OMIM:115200
Congenital Pulmonary Lymphangiectasia
Chylopericardium, Hepatomegaly, Ascites, Pulmonary arterial hypertension, Tricuspid regurgitation... ORPHA:2414
Combined Oxidative Phosphorylation Deficiency 31
Hypertrophic cardiomyopathy, Left ventricular noncompaction OMIM:617228
Congenital Gerbode Defect
Right ventricular failure, Constrictive pericarditis, Ventricular septal defect, Left-to-right sh... ORPHA:99095
Familial Isolated Restrictive Cardiomyopathy
Hypertrophic cardiomyopathy, Syncope, Left atrial enlargement, Hepatomegaly, Abnormal left ventri... ORPHA:75249
Klippel-Trénaunay Syndrome
Hepatomegaly, Ascites, Edema, Abnormal tricuspid valve morphology, Gastrointestinal hemorrhage, A... ORPHA:90308
Choanal Atresia And Lymphedema
Pericardial effusion, Lymphedema OMIM:613611
Pericardial effusion, Ascites OMIM:256150
Chilblain Lupus 2
Edema, Vasculitis OMIM:614415
Lymphatic Malformation 7
Nonimmune hydrops fetalis, Pericardial effusion, Edema, Facial edema, Atrial septal defect, Pulmo... OMIM:617300
Sick Sinus Syndrome 2
Sinus bradycardia, Mitral valve prolapse, Atrial fibrillation, Aortic regurgitation, Left ventric... OMIM:163800
Transaldolase Deficiency
Telangiectasia, Biventricular hypertrophy, Edema, Cirrhosis, Hepatosplenomegaly, Atrial septal de... ORPHA:101028
Glycogen Storage Disease Iv
Skeletal muscle atrophy, Ascites, Edema, Cardiomyopathy, Polyhydramnios, Arthrogryposis multiplex... OMIM:232500
Pericardial Effusion, Chronic
Constrictive pericarditis, Pericardial effusion OMIM:260900
Cirrhotic Cardiomyopathy
Left atrial enlargement, Ventricular arrhythmia, Third heart sound, Pulmonary edema, Jaundice, Gl... ORPHA:57777
Cardiomyopathy, Dilated, 1S
Dilated cardiomyopathy, Bicuspid aortic valve, Ventricular arrhythmia, Tricuspid regurgitation, C... OMIM:613426
Congenitally Uncorrected Transposition Of The Great Arteries
Hepatomegaly, Ventricular septal defect, Abnormal QRS complex, Abnormality of blood circulation, ... ORPHA:860
Pulmonary Edema Of Mountaineers, Susceptibility To
Edema, Pulmonary edema, Elevated pulmonary artery pressure OMIM:178400
Lethal Congenital Contracture Syndrome 2
Dilated cardiomyopathy, Ventricular septal defect, Skeletal muscle atrophy, Edema, Arthrogryposis... OMIM:607598
Congenital Tricuspid Valve Dysplasia
Hepatomegaly, Pericardial effusion, Systolic heart murmur, Right ventricular hypertrophy, Cardiom... ORPHA:555874
Naxos Disease
Dilated cardiomyopathy, Syncope, Paroxysmal ventricular tachycardia, Premature ventricular contra... OMIM:601214
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Abnormal mitochondria in muscle tissue, Ragg... OMIM:252011
Familial Idiopathic Dilatation Of The Right Atrium
Abnormal cardiac ventricular function, Syncope, Paroxysmal atrial fibrillation, Hepatomegaly, Atr... ORPHA:1677
Mitochondrial Complex Iv Deficiency, Nuclear Type 13
Hypertrophic cardiomyopathy, Reduced ejection fraction, Aortic regurgitation, Tricuspid regurgita... OMIM:616501
Snakebite Envenomation
Ecchymosis, Intracranial hemorrhage, Gingival bleeding, Angioedema, Edema, Epistaxis, Tachycardia... ORPHA:449285
Atrial Septal Defect, Ostium Primum Type
Left atrial enlargement, Syncope, Third heart sound, Abnormally loud pulmonic component of the se... ORPHA:99106
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Dilated cardiomyopathy, Hepatomegaly, Mitral regurgitation, Neonatal death, Left ventricular syst... OMIM:619167
Tropical Endomyocardial Fibrosis
Left atrial enlargement, Splenomegaly, Abnormal EKG, Abnormal P wave, Reduced ejection fraction, ... ORPHA:75565
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Nonimmune hydrops fetalis, Pericardial effusion, Endocardial fibroelastosis, Restrictive cardiomy... OMIM:619313
Cardiac Valvular Defect, Developmental
Tricuspid atresia, Mitral valve prolapse, Edema, Mitral stenosis, Tricuspid valve prolapse, Tricu... OMIM:212093
American Trypanosomiasis
Myocarditis, Hepatomegaly, Edema, Cardiomyopathy, Splenomegaly, Congestive heart failure, Periorb... ORPHA:3386
Pulmonary Capillary Hemangiomatosis
Right ventricular failure, Pericardial effusion, Elevated pulmonary artery pressure, Pulmonary ed... ORPHA:199241
Aneurysm Of Sinus Of Valsalva
Bacterial endocarditis, Aortic regurgitation, Edema, Congestive heart failure, Heart murmur ORPHA:1054
Congenital Enterovirus Infection
Myocarditis, Fetal ascites, Pericardial effusion, Hepatitis, Cardiomyopathy, Polyhydramnios, Chol... ORPHA:292
Craniofaciofrontodigital Syndrome
Bicuspid aortic valve, Ventricular septal defect, Pericardial effusion, Mitral regurgitation, Mac... ORPHA:363705
Gaucher Disease Type 1
Hepatomegaly, Pericardial effusion, Gingival bleeding, Ascites, Pedal edema, Biliary tract obstru... ORPHA:77259
Drug-Induced Lupus Erythematosus
Prolonged QTc interval, Pericarditis, Pericardial effusion, Petechiae ORPHA:231111
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Dilated cardiomyopathy, Hepatomegaly, Ventricular septal defect, Prolonged QT interval, Pericardi... ORPHA:26793
Lymphatic Malformation 6
Nonimmune hydrops fetalis, Ascites, Edema, Chylothorax, Facial edema, Genital edema, Polyhydramni... OMIM:616843
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Hypertrophic cardiomyopathy, Ventricular septal defect, Pericardial effusion, Cholelithiasis, Bra... OMIM:618775
Chronic Thromboembolic Pulmonary Hypertension
Right ventricular failure, Syncope, Right ventricular dilatation, Abnormal T-wave, Palpitations, ... ORPHA:70591
Diarrhea 10, Protein-Losing Enteropathy Type
Pericardial effusion, Ascites, Anasarca, Polyhydramnios, Pleural effusion, Hematochezia OMIM:618183
Kaposiform Lymphangiomatosis
Ecchymosis, Epidural hemorrhage, Pericardial effusion, Pancreatic cysts, Subconjunctival hemorrha... ORPHA:464329
Heart Block, Congenital
Myocardial calcification, Mitral regurgitation, Atrioventricular block, Cardiomyopathy, Absent at... OMIM:234700
Arteritis, Familial Granulomatous, With Juvenile Polyarthritis
Hypertension, Pericardial effusion, Granulomatous coronary arteritis, Pleural effusion, Jaundice OMIM:108050
Q Fever
Myocarditis, Hepatomegaly, Pericarditis, Pericardial effusion, Endocarditis, Hepatitis, Splenomeg... ORPHA:781
Primary Intestinal Lymphangiectasia
Pericardial effusion, Ascites, Edema, Pleural effusion, Generalized edema, Peritoneal effusion ORPHA:90362
Visceral Steatosis, Congenital
Myocardial steatosis, Neonatal death, Hepatic steatosis, Abnormal bleeding, Jaundice OMIM:228100
Gaucher Disease Type 3
Hepatomegaly, Pericardial effusion, Mitral valve calcification, Pulmonary arterial hypertension, ... ORPHA:77261
Homozygous Familial Hypercholesterolemia
Hypertension, Myocardial steatosis, Mitral regurgitation, Heart murmur, Supravalvular aortic sten... ORPHA:391665
Tubular Renal Disease-Cardiomyopathy Syndrome
Dilated cardiomyopathy, Hepatic calcification, Pericardial effusion, Pulmonary edema, Congestive ... ORPHA:73224
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9
Syncope, Ventricular arrhythmia, Palpitations, Dilatation of the ventricular cavity, Sudden cardi... OMIM:609040
Generalized Arterial Calcification Of Infancy
Hypertension, Myocardial calcification, Hepatic calcification, Pericardial effusion, Ascites, Ven... ORPHA:51608
Brugada Syndrome
Paroxysmal ventricular tachycardia, Syncope, Ventricular arrhythmia, Supraventricular tachycardia... ORPHA:130


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 Pkp2

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 Pkp2.

No publications found that use IMPC mice or data for Pkp2.

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MGI Allele Allele Type Produced
Pkp2tm221613(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Pkp2tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells

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