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Gene: Pkp2 MGI:1914701

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Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
plakophilin 2
Synonyms:
Pkp2l,  1200008D14Rik,  1200012P04Rik

Order Alleles

IMPC Data Collections

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

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.

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.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9
Fibrofatty replacement of right ventricular myocardium, Right ventricular cardiomyopathy, Prolong... OMIM:609040
Brugada Syndrome
Tachycardia, Cardiac arrest, First degree atrioventricular block, Trifascicular block, ST segment... ORPHA:130

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Congenital Plasminogen Activator Inhibitor Type 1 Deficiency
Gastrointestinal hemorrhage, Epidural hemorrhage, Prolonged bleeding after dental extraction, Epi... ORPHA:465
Congenital Factor X Deficiency
Gastrointestinal hemorrhage, Epistaxis, Subarachnoid hemorrhage, Prolonged bleeding after surgery... ORPHA:328
Cardiomyopathy, Dilated, 1R
Increased left ventricular end-diastolic volume, Congestive heart failure, Myofiber disarray, Dil... OMIM:613424
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Increased left ventricular end-diastolic volume, Sudden cardiac death, Congestive heart failure, ... OMIM:601493
Left Ventricular Noncompaction 10
Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy... OMIM:615396
Cardiomyopathy, Dilated, 1Gg
Congestive heart failure, Dilated cardiomyopathy, Reduced left ventricular ejection fraction, Lef... OMIM:613642
Left Ventricular Noncompaction 8
Left ventricular diastolic dysfunction, Congestive heart failure, Dilated cardiomyopathy, Mitral ... OMIM:615373
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Atrial fibrillation, Cardiac arrest, Myofiber disarray, Dilated cardiomyopathy, Atrioventricular ... OMIM:612158
Left Ventricular Noncompaction 7
Left ventricular noncompaction, Left ventricular noncompaction cardiomyopathy OMIM:615092
Crimean-Congo Hemorrhagic Fever
Bundle branch block, Abnormal left ventricular function, Cholecystitis, Ecchymosis, Internal hemo... ORPHA:99827
Left Ventricular Noncompaction 1
Noncompaction cardiomyopathy, Atrial fibrillation, Ventricular septal defect, Left ventricular no... OMIM:604169
Atrial Standstill
Skeletal muscle atrophy, Flexion contracture, Ventricular tachycardia, Mobitz I atrioventricular ... ORPHA:1344
Congenital Heart Block
First degree atrioventricular block, Gallop rhythm, Pericardial effusion, Patent foramen ovale, C... ORPHA:60041
Cardiomyopathy, Familial Hypertrophic, 4
First degree atrioventricular block, Cardiomegaly, Atrioventricular block, Left bundle branch blo... OMIM:115197
Primary Effusion Lymphoma
Pericardial effusion, Abnormal peritoneum morphology, Pleural effusion ORPHA:48686
Hydrops Fetalis
Nonimmune hydrops fetalis, Polyhydramnios, Lymphedema, Pericardial effusion, Abnormal heart morph... ORPHA:1041
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Sinoatrial block, Atrial flutter, Atrial fibrillation, Sudden cardiac death, Cardiac conduction a... ORPHA:300751
Cardiomyopathy, Dilated, 1D
Prolonged QT interval, Increased left ventricular end-diastolic volume, Atrial fibrillation, Sudd... OMIM:601494
Cardiomyopathy, Dilated, 1A
Atrial flutter, Atrial fibrillation, First degree atrioventricular block, Sudden cardiac death, P... OMIM:115200
Lymphatic Malformation 8
Nonimmune hydrops fetalis, Polyhydramnios, Pericardial effusion, Stillbirth, Pleural effusion, Ge... OMIM:618773
Congenital Pulmonary Lymphangiectasia
Hepatomegaly, Tricuspid regurgitation, Congestive heart failure, Splenomegaly, Hydrops fetalis, C... ORPHA:2414
Sick Sinus Syndrome 2
Aortic regurgitation, Paroxysmal atrial fibrillation, Atrial fibrillation, Cardiac arrest, Sudden... OMIM:163800
Congenital Gerbode Defect
Elevated right atrial pressure, Tricuspid regurgitation, Left-to-right shunt, Ventricular septal ... ORPHA:99095
Long Qt Syndrome 15
Ventricular ectopy, 2:1 atrioventricular block, Cardiac arrest, Polymorphic ventricular tachycard... OMIM:616249
Familial Isolated Restrictive Cardiomyopathy
Hepatomegaly, Tricuspid regurgitation, Atrial fibrillation, Left atrial enlargement, Supraventric... ORPHA:75249
Choanal Atresia And Lymphedema
Pericardial effusion, Lymphedema OMIM:613611
Nephrosialidosis
Pericardial effusion, Ascites OMIM:256150
Cirrhotic Cardiomyopathy
Cardiomegaly, Global systolic dysfunction, Abnormal bleeding, Hepatomegaly, Elevated pulmonary ar... ORPHA:57777
Klippel-Trénaunay Syndrome
Gastrointestinal hemorrhage, Prolonged bleeding time, Hepatomegaly, Edema, Pulmonary embolism, Co... ORPHA:90308
Transaldolase Deficiency
Edema, Hydrops fetalis, Telangiectasia, Biventricular hypertrophy, Hepatosplenomegaly, Cirrhosis,... ORPHA:101028
Lymphatic Malformation 7
Nonimmune hydrops fetalis, Edema, Lymphedema, Facial edema, Pericardial effusion, Increased nucha... OMIM:617300
Glycogen Storage Disease Iv
Skeletal muscle atrophy, Portal hypertension, Polyhydramnios, Edema, Hydrops fetalis, Hepatosplen... OMIM:232500
Combined Oxidative Phosphorylation Deficiency 10
Cardiomegaly, Pericardial effusion, Pleural effusion, Bradycardia, Hypertrophic cardiomyopathy, A... OMIM:614702
Glycogen Storage Disease Of Heart, Lethal Congenital
Prolonged QRS complex, Cardiomegaly, Pericardial effusion, Shortened PR interval, Cardiomyopathy,... OMIM:261740
Congenitally Uncorrected Transposition Of The Great Arteries
Levotransposition of the great arteries, Hepatomegaly, Tachycardia, Ventricular septal defect, Ca... ORPHA:860
Mitochondrial Complex Iv Deficiency, Nuclear Type 13
Aortic regurgitation, Tricuspid regurgitation, Reduced left ventricular ejection fraction, Left v... OMIM:616501
Cardiomyopathy, Dilated, 1S
Tricuspid regurgitation, Bicuspid aortic valve, Sudden cardiac death, Congestive heart failure, D... OMIM:613426
Combined Oxidative Phosphorylation Deficiency 31
Increased variability in muscle fiber diameter, Hypertrophic cardiomyopathy, Left ventricular non... OMIM:617228
Pulmonary Edema Of Mountaineers, Susceptibility To
Elevated pulmonary artery pressure, Edema, Pulmonary edema OMIM:178400
Congenital Tricuspid Valve Dysplasia
Hepatomegaly, Tricuspid regurgitation, Cardiomegaly, Pericardial effusion, Anomalous pulmonary ve... ORPHA:555874
Naxos Disease
Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Prolonged ... OMIM:601214
Lethal Congenital Contracture Syndrome 2
Skeletal muscle atrophy, Ventricular septal defect, Polyhydramnios, Edema, Dilated cardiomyopathy... OMIM:607598
Snakebite Envenomation
Abnormal bleeding, Tachycardia, Epistaxis, Myocardial infarction, Edema, Cardiogenic shock, Angio... ORPHA:449285
Familial Idiopathic Dilatation Of The Right Atrium
Hepatomegaly, Abnormal cardiac ventricular function, Paroxysmal atrial fibrillation, Tricuspid re... ORPHA:1677
Combined Oxidative Phosphorylation Deficiency 20
Hypertrophic cardiomyopathy, Left ventricular noncompaction OMIM:615917
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Nonimmune hydrops fetalis, Pericardial effusion, Endocardial fibroelastosis, Restrictive cardiomy... OMIM:619313
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Hepatomegaly, Tricuspid regurgitation, Left ventricular systolic dysfunction, Dilated cardiomyopa... OMIM:619167
Tropical Endomyocardial Fibrosis
Prolonged QRS complex, Restrictive cardiomyopathy, Cardiomegaly, Atrioventricular block, Left bun... ORPHA:75565
Atrial Septal Defect, Ostium Primum Type
First degree atrioventricular block, Atrioventricular block, Right ventricular dilatation, Fixed ... ORPHA:99106
Congenital Disorder Of Glycosylation, Type Il
Hepatomegaly, Edema, Pericardial effusion, Hepatosplenomegaly, Abnormal cardiac septum morphology... OMIM:608776
Aneurysm Of Sinus Of Valsalva
Aortic regurgitation, Edema, Congestive heart failure, Heart murmur, Bacterial endocarditis ORPHA:1054
Pulmonary Capillary Hemangiomatosis
Pulmonary edema, Diffuse alveolar hemorrhage, Pericardial effusion, Right ventricular failure, Pe... ORPHA:199241
Congenital Enterovirus Infection
Abnormal bleeding, Fetal ascites, Polyhydramnios, Pericardial effusion, Myocarditis, Hydrops feta... ORPHA:292
Craniofaciofrontodigital Syndrome
Gastrointestinal hemorrhage, Persistent fetal circulation, Bicuspid aortic valve, Ventricular sep... ORPHA:363705
Gaucher Disease Type 1
Hepatomegaly, Pericardial effusion, Hypersplenism, Splenomegaly, Pedal edema, Pulmonary arterial ... ORPHA:77259
Lymphatic Malformation 6
Genital edema, Nonimmune hydrops fetalis, Polyhydramnios, Edema, Facial edema, Periorbital edema,... OMIM:616843
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Prolonged QT interval, Hepatomegaly, Tachycardia, Exercise-induced rhabdomyolysis, Ventricular se... ORPHA:26793
Drug-Induced Lupus Erythematosus
Pericardial effusion, Pericarditis, Prolonged QTc interval, Petechiae ORPHA:231111
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Persistent fetal circulation, Ventricular septal defect, Pericardial effusion, Bradycardia, Chole... OMIM:618775
Cardiac Valvular Dysplasia 1
Tricuspid regurgitation, Ventricular septal defect, Left atrial enlargement, Edema, Tricuspid ste... OMIM:212093
Kaposiform Lymphangiomatosis
Abnormal bleeding, Epidural hemorrhage, Epistaxis, Pericardial effusion, Pancreatic cysts, Spleno... ORPHA:464329
Chronic Thromboembolic Pulmonary Hypertension
Cardiac shunt, Edema, Pulmonary embolism, Right ventricular failure, Increased pulmonary vascular... ORPHA:70591
Aicardi-Goutieres Syndrome 9
Hepatomegaly, Pericarditis, Acute pancreatitis, Portal hypertension, Edema, Pericardial effusion,... OMIM:619487
Heart Block, Congenital
Atrioventricular block, Myocardial calcification, Absent atrioventricular node, Myocardial fibros... OMIM:234700
Diarrhea 10, Protein-Losing Enteropathy Type
Polyhydramnios, Pericardial effusion, Cryptorchidism, Hematochezia, Anasarca, Pleural effusion, A... OMIM:618183
Cardiac-Urogenital Syndrome
Accessory spleen, Prolonged bleeding time, Tachycardia, Cor triatrium sinister, Ventricular septa... OMIM:618280
Primary Intestinal Lymphangiectasia
Peritoneal effusion, Edema, Pericardial effusion, Pleural effusion, Ascites, Generalized edema ORPHA:90362
Q Fever
Hepatomegaly, Pericarditis, Abnormal heart valve morphology, Pericardial effusion, Myocarditis, S... ORPHA:781
Gaucher Disease Type 3
Hepatomegaly, Mitral valve calcification, Abnormal heart valve morphology, Pericardial effusion, ... ORPHA:77261
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome
Sudden cardiac death, Pericardial effusion, Congestive heart failure, Dilated cardiomyopathy, Hep... ORPHA:73224
Homozygous Familial Hypercholesterolemia
Angina pectoris, Sudden cardiac death, Myocardial infarction, Tendon xanthomatosis, Heart murmur,... ORPHA:391665
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9
Fibrofatty replacement of right ventricular myocardium, Right ventricular cardiomyopathy, Prolong... OMIM:609040
Generalized Arterial Calcification Of Infancy
Ventricular hypertrophy, Transient ischemic attack, Polyhydramnios, Edema, Pericardial effusion, ... ORPHA:51608
Brugada Syndrome
Tachycardia, Cardiac arrest, First degree atrioventricular block, Trifascicular block, ST segment... ORPHA:130

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 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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