Gene Summary

Name:
phosphodiesterase 2A, cGMP-stimulated
Synonyms:
N/A

IMPC Phenotype Summary

Significant
Not Significant
Not tested

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 neutrophil cell number Pde2aem1(IMPC)H HET Early adult 7.51×10-06
increased circulating bilirubin level Pde2aem1(IMPC)H HET Early adult 5.45×10-05
preweaning lethality, complete penetrance Pde2aem1(IMPC)H HOM   Early adult 0.00
increased heart weight Pde2aem1(IMPC)H HET Early adult 2.72×10-06
decreased circulating triglyceride level Pde2aem1(IMPC)H HET Early adult 7.07×10-05

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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 Lateral Orientation

8 Images

X-ray

XRay Images Whole Body Dorso Ventral

8 Images

Human diseases caused by Pde2a 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 Pde2a by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures
OMIM:619150
Infantile Convulsions And Choreoathetosis
ORPHA:31709

The table below shows human diseases predicted to be associated to Pde2a by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Glutathione Peroxidase Deficiency
Heinz bodies, Compensated hemolytic anemia, Neonatal hyperbilirubinemia OMIM:614164
Red Cell Phospholipid Defect With Hemolysis
Reticulocytosis, Hyperbilirubinemia, Splenomegaly OMIM:179700
Hyperbilirubinemia, Shunt, Primary
Hepatomegaly, Erythroid hyperplasia, Hyperbilirubinemia, Splenomegaly, Reticulocytosis, Anemia of... OMIM:237800
Crigler-Najjar Syndrome Type 2
Unconjugated hyperbilirubinemia, Neonatal hyperbilirubinemia ORPHA:79235
Anemia, Congenital Dyserythropoietic, Type Iv
Hypertrophic cardiomyopathy, Hepatomegaly, Erythroid hyperplasia, Anemia, Hyperbilirubinemia, Spl... OMIM:613673
Hemolytic Anemia Due To Glutathione Reductase Deficiency
Fava bean-induced hemolytic anemia, Hyperbilirubinemia OMIM:618660
Citrullinemia, Type Ii, Neonatal-Onset
Decreased HDL cholesterol concentration, Hyperbilirubinemia, Hypercholesterolemia, Hypertriglycer... OMIM:605814
Jaundice, Familial Obstructive, Of Infancy
Neonatal hyperbilirubinemia OMIM:308600
Crigler-Najjar Syndrome, Type Ii
Unconjugated hyperbilirubinemia OMIM:606785
Hyperbilirubinemia, Conjugated, Type Iii
Conjugated hyperbilirubinemia OMIM:237550
Hyperbilirubinemia, Transient Familial Neonatal
Neonatal unconjugated hyperbilirubinemia OMIM:237900
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Increased serum iron, Congenital hemolytic anemia, Reduced red cell pyruvate kinase level, Unconj... ORPHA:766
Megaloblastic Anemia, Folate-Responsive
Hyperhomocystinemia, Schistocytosis, Episodic hemolytic anemia, Hyperbilirubinemia, Increased cir... OMIM:601775
Hyperbilirubinemia, Rotor Type
Conjugated hyperbilirubinemia OMIM:237450
Dubin-Johnson Syndrome
Conjugated hyperbilirubinemia OMIM:237500
Crigler-Najjar Syndrome, Type I
Unconjugated hyperbilirubinemia OMIM:218800
Spherocytosis, Type 4
Hyperbilirubinemia, Splenomegaly, Spherocytosis, Reticulocytosis, Hemolytic anemia OMIM:612653
Rotor Syndrome
Conjugated hyperbilirubinemia, Hyperbilirubinemia ORPHA:3111
Dehydrated Hereditary Stomatocytosis 2
Hepatomegaly, Anisopoikilocytosis, Increased mean corpuscular volume, Acanthocytosis, Hyperbiliru... OMIM:616689
Malaria
Thrombocytopenia, Elevated circulating C-reactive protein concentration, Anemia, Hyperbilirubinemia ORPHA:673
Spherocytosis, Type 2
Hemolytic anemia, Acanthocytosis, Hyperbilirubinemia, Splenomegaly, Reticulocytosis, Spherocytosis OMIM:616649
Overhydrated Hereditary Stomatocytosis
Hepatomegaly, Stomatocytosis, Hyperbilirubinemia, Splenomegaly, Reticulocytosis, Hemolytic anemia OMIM:185000
Edinburgh Malformation Syndrome
Neonatal hyperbilirubinemia OMIM:129850
Ethanolaminosis
Cardiomegaly OMIM:227150
Neutrophilia, Hereditary
Neutrophilia, Hepatosplenomegaly OMIM:162830
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Acute lymphoblastic leukemia, Neutropenia, Anemia, Hyperbilirubinemia, Splenomegaly, Increased ci... ORPHA:158057
Thrombocytopenia, Cyclic
Thrombocytopenia, Neutropenia, Cyclic neutropenia OMIM:188020
Gilbert Syndrome
Unconjugated hyperbilirubinemia OMIM:143500
Cholestasis-Lymphedema Syndrome
Hepatomegaly, Conjugated hyperbilirubinemia, Hyperlipidemia, Splenomegaly OMIM:214900
Crigler-Najjar Syndrome Type 1
Unconjugated hyperbilirubinemia, Neonatal hyperbilirubinemia ORPHA:79234
Spherocytosis, Type 1
Hyperbilirubinemia, Splenomegaly, Spherocytosis, Reticulocytosis, Hemolytic anemia OMIM:182900
Bile Acid Synthesis Defect, Congenital, 5
Hepatomegaly, Iron deficiency anemia, Hyperbilirubinemia, Splenomegaly, Increased serum bile acid... OMIM:616278
Hemophagocytic Lymphohistiocytosis, Familial, 3
Anemia, Hepatosplenomegaly, Hypertriglyceridemia, Granulocytopenia, Hemophagocytosis OMIM:608898
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Hepatomegaly, Hypochromia, Elevated hepatic iron concentration, Erythroid hyperplasia, Anemia, Sp... OMIM:616860
Solute carrier family 4 (anion exchanger), member 1
Hemolytic anemia, Acanthocytosis, Stomatocytosis, Hyperbilirubinemia, Splenomegaly, Reticulocytos... OMIM:109270
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Normocytic anemia, Normochromic anemia, Hyperbilirubinemia, Splenomegaly, Nonspherocytic hemolyti... OMIM:235700
Hypertriglyceridemia 2
Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia OMIM:619324
Elliptocytosis 2
Reticulocytosis, Hemolytic anemia, Elliptocytosis, Neonatal hyperbilirubinemia OMIM:130600
Diamond-Blackfan Anemia 18
Steroid-responsive anemia, Neutropenia, Erythroid hypoplasia OMIM:618310
Harderoporphyria
Hepatomegaly, Neonatal hyperbilirubinemia, Splenomegaly, Increased circulating ferritin concentra... OMIM:618892
Specific Granule Deficiency 1
Absent neutrophil lactoferrin, Absent neutrophil specific granules, Increased neutrophil mitochon... OMIM:245480
Cyclic Neutropenia
Neutropenia, Cyclic neutropenia OMIM:162800
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Leukocytosis, Unconjugated hyperbilirubinemia, Decreased glucose-6-phosphate dehydrogenase level ... OMIM:300908
Dehydrated Hereditary Stomatocytosis
Congenital hemolytic anemia, Macrocytic anemia, Schistocytosis, Increased mean corpuscular volume... ORPHA:3202
Isolated Polycystic Liver Disease
Hepatomegaly, Increased total bilirubin ORPHA:2924
Cholestasis, Benign Recurrent Intrahepatic, 1
Hepatomegaly, Conjugated hyperbilirubinemia, Increased serum bile acid concentration OMIM:243300
Hypermethioninemia Due To Adenosine Kinase Deficiency
Atrial septal defect, Hypermethioninemia, Hyperbilirubinemia, Pulmonic stenosis OMIM:614300
Bile Acid Synthesis Defect, Congenital, 2
Hepatomegaly, Steatorrhea, Hyperbilirubinemia, Splenomegaly OMIM:235555
Rh-Null, Regulator Type
Stomatocytosis, Hemolytic anemia, Unconjugated hyperbilirubinemia OMIM:268150
Sickle Cell Anemia
Leukocytosis, Abnormality of the spleen, Thrombocytosis, Unconjugated hyperbilirubinemia, Increas... ORPHA:232
Liver Failure, Infantile, Transient
Hepatomegaly, Hyperbilirubinemia OMIM:613070
Hepatic Veno-Occlusive Disease
Hepatomegaly, Increased total bilirubin ORPHA:890
Biliary Atresia, Extrahepatic
Hepatomegaly, Unconjugated hyperbilirubinemia, Hyperbilirubinemia, Increased total bilirubin OMIM:210500
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hypergalactosemia, Hyperammonemia, Hyperthreoninemia, Hepatosplenomegaly, Hypermethioninemia, Dec... ORPHA:247598
Infantile Sialic Acid Storage Disease
Hepatomegaly, Vacuolated lymphocytes, Cardiomegaly, Splenomegaly, Conjugated hyperbilirubinemia OMIM:269920
Hereditary Elliptocytosis
Congenital hemolytic anemia, Neonatal hyperbilirubinemia, Stomatocytosis, Hyperbilirubinemia, Spl... ORPHA:288
Glycogen Storage Disease Vii
Increased total bilirubin, Hyperuricemia, Reticulocytosis, Reduced erythrocyte 2,3-diphosphoglyce... OMIM:232800
T-Cell Immunodeficiency, Recurrent Infections, And Autoimmunity With Or Without Cardiac Malformations
Atrial septal defect, Neutropenia, Lymphopenia OMIM:614868
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hyponatremia, Hypoproteinemia, Decreased HDL cholesterol concentration, Hepatomegaly, Leukopenia,... OMIM:267700
Bile Acid Conjugation Defect 1
Hepatomegaly, Conjugated hyperbilirubinemia OMIM:619232
Polycystic Liver Disease 1 With Or Without Kidney Cysts
Increased total bilirubin OMIM:174050
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hepatomegaly, Neutropenia, Anemia, Splenomegaly, Increased circulating ferritin concentration, Hy... OMIM:603552
Neutropenia, Severe Congenital, 7, Autosomal Recessive
Neutropenia OMIM:617014
Congenital Dyserythropoietic Anemia Type Iii
Increased serum iron, Increased mean corpuscular volume, Anemia, Hyperbilirubinemia, Anisocytosis... ORPHA:98870
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Hepatomegaly, Neutropenia, Leukopenia, Anemia, Splenomegaly, Extramedullary hematopoiesis, Thromb... OMIM:615285
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Thrombocytosis, Neutropenia, Monocytosis, Congenital agranulocytosis, Anemia, Acute monocytic leu... OMIM:202700
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Hepatomegaly, Increased total bilirubin OMIM:618528
Drug-Induced Autoimmune Hemolytic Anemia
Autoimmune hemolytic anemia, Increased total bilirubin, Splenomegaly ORPHA:90037
Pyruvate Kinase Deficiency Of Red Cells
Reticulocytosis, Chronic hemolytic anemia, Unconjugated hyperbilirubinemia, Splenomegaly OMIM:266200
Bile Acid Synthesis Defect, Congenital, 1
Hepatomegaly, Hypocholesterolemia, Hyperbilirubinemia, Splenomegaly, Steatorrhea OMIM:607765
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Hyperbilirubinemia OMIM:609734
Neutropenia, Severe Congenital, 2, Autosomal Dominant
B lymphocytopenia, Neutropenia, Monocytosis OMIM:613107
Neutropenia, Severe Congenital, X-Linked
Neutropenia OMIM:300299
Neutropenia, Lethal Congenital, With Eosinophilia
Eosinophilia, Neutropenia OMIM:257100
Rh Deficiency Syndrome
Hemolytic anemia, Reduced haptoglobin level, Macrocytic anemia, Hypochromia, Stomatocytosis, Hype... ORPHA:71275
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency
Reticulocytosis, Hemolytic anemia, Hyperbilirubinemia, Decreased hemoglobin concentration ORPHA:713
Congenital Bile Acid Synthesis Defect Type 2
Hepatomegaly, Abnormal serum bile acid concentration, Hyperbilirubinemia, Conjugated hyperbilirub... ORPHA:79303
Osteopetrosis, Autosomal Recessive 5
Hepatomegaly, Anemia, Hyperbilirubinemia, Decreased osteoclast count, Splenomegaly, Extramedullar... OMIM:259720
Hereditary Spherocytosis
Hepatomegaly, Restrictive cardiomyopathy, Anemia, Hyperbilirubinemia, Splenomegaly, Extramedullar... ORPHA:822
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hyponatremia, Hypoproteinemia, Hepatomegaly, Leukopenia, Anemia, Increased total bilirubin, Splen... OMIM:603553
Relapsing Fever
Leukocytosis, Leukopenia, Elevated circulating creatinine concentration, Anemia, Increased total ... ORPHA:91547
Wolcott-Rallison Syndrome
Hyponatremia, Hepatomegaly, Neutropenia, Iron deficiency anemia, Double outlet right ventricle, H... ORPHA:1667
Hypermanganesemia With Dystonia 1
Hepatomegaly, Unconjugated hyperbilirubinemia, Polycythemia, Hypermanganesemia, Increased total i... OMIM:613280
Bile Acid Synthesis Defect, Congenital, 4
Hepatomegaly, Hyperbilirubinemia OMIM:214950
Cholestasis, Benign Recurrent Intrahepatic, 2
Hepatomegaly, Conjugated hyperbilirubinemia OMIM:605479
Lipoyltransferase 1 Deficiency
Increased total bilirubin OMIM:616299
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults
Acute myeloid leukemia, Neutropenia OMIM:607847
Hepatoportal Sclerosis
Leukopenia, Anemia, Hyperbilirubinemia, Splenomegaly, Hypersplenism, Hypoalbuminemia, Thrombocyto... ORPHA:64743
Dubin-Johnson Syndrome
Hepatomegaly, Conjugated hyperbilirubinemia ORPHA:234
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Cardiomegaly, Hypoalbuminemia ORPHA:88643
Ras-Associated Autoimmune Leukoproliferative Disorder
Hepatomegaly, Neutropenia, Monocytosis, Leukemia, Splenomegaly, Autoimmune thrombocytopenia, Lymp... OMIM:614470
Cholestasis, Progressive Familial Intrahepatic, 2
Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly OMIM:601847
Congenital Bile Acid Synthesis Defect Type 3
Hepatosplenomegaly, Hyperbilirubinemia ORPHA:79302
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hepatomegaly, Hyperbilirubinemia, Splenomegaly, Hypoalbuminemia, Thrombocytopenia OMIM:251880
Acquired Idiopathic Sideroblastic Anemia
Hepatomegaly, Leukocytosis, Thrombocytosis, Neutropenia, Normocytic anemia, Megaloblastic erythro... ORPHA:75564
Combined Oxidative Phosphorylation Deficiency 41
Elevated circulating creatine kinase concentration, Cardiomegaly, Anemia, Decreased circulating c... OMIM:618838
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Right ventricular hypertrophy, Ventricular septal defect, Conjugated hyperbilirubinemia OMIM:613404
Cholestasis, Progressive Familial Intrahepatic, 8
Hepatomegaly, Hypercholesterolemia, Elevated alpha-fetoprotein, Conjugated hyperbilirubinemia, In... OMIM:619662
Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies
Abnormal circulating thyroglobulin level, Conjugated hyperbilirubinemia ORPHA:95715
Peroxisome Biogenesis Disorder 12A (Zellweger)
Double outlet right ventricle, Atrial septal defect, Hyperbilirubinemia, Elevated circulating lon... OMIM:614886
Cholestasis, Progressive Familial Intrahepatic, 1
Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly OMIM:211600
Idiopathic Congenital Hypothyroidism
Neonatal hyperbilirubinemia ORPHA:95717
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Right ventricular hypertrophy, Ventricular septal defect, Conjugated hyperbilirubinemia, Atrial s... OMIM:208085
Autosomal Dominant Spastic Paraplegia Type 29
Hyperbilirubinemia ORPHA:101009
Cystic Echinococcosis
Hepatomegaly, Splenic cyst, Peritoneal abscess, Abnormal heart morphology, Abscess, Hyperbilirubi... ORPHA:400
Anemia, Sideroblastic, 5
Reduced hematocrit, Neutropenia, Hypochromic microcytic anemia, Anemia, Thrombocytopenia OMIM:619523
Alpha-Thalassemia-Myelodysplastic Syndrome
Neutropenia, Acute leukemia, Splenomegaly, Microcytic anemia, Thrombocytopenia, HbH hemoglobin ORPHA:231401
Mixed-Type Autoimmune Hemolytic Anemia
Increased total bilirubin, Autoimmune hemolytic anemia ORPHA:90036
Felty Syndrome
Neutropenia, Splenomegaly OMIM:134750
Abetalipoproteinemia
Hepatomegaly, Decreased HDL cholesterol concentration, Hypocholesterolemia, Acanthocytosis, Abnor... ORPHA:14
X-Linked Severe Congenital Neutropenia
Monocytopenia, Neutropenia ORPHA:86788
Immunodeficiency 21
Abnormal natural killer cell morphology, Neutropenia, Lymphopenia, Myeloid leukemia, Monocytopeni... OMIM:614172
Diamond-Blackfan Anemia 4
Macrocytic anemia, Neutropenia, Erythroid hypoplasia, Atrial septal defect, Reticulocytopenia OMIM:612527
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Neutropenia, Increased mean corpuscular volume, Anemia, Acute myeloid leukemia, Pancytopenia, Thr... OMIM:619041
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Dilated cardiomyopathy, Hepatomegaly, Decreased plasma free carnitine, Elevated circulating long ... OMIM:608836
Reynolds Syndrome
Hepatomegaly, Calcinosis, Hyperbilirubinemia, Splenomegaly, Steatorrhea OMIM:613471
Mitochondrial Complex I Deficiency, Nuclear Type 36
Hyperprolinemia, Perimembranous ventricular septal defect, Cardiomegaly, Hyperalaninemia OMIM:619170
Fanconi Anemia, Complementation Group V
Anemia, Thrombocytopenia, Elevated alpha-fetoprotein, Neutropenia OMIM:617243
Cholestasis, Progressive Familial Intrahepatic, 6
Conjugated hyperbilirubinemia OMIM:619484
Chronic Bilirubin Encephalopathy
Hypoalbuminemia, Hemolytic anemia, Hypernatremia, Neonatal hyperbilirubinemia ORPHA:529808
Acute Bilirubin Encephalopathy
Hypoalbuminemia, Hemolytic anemia, Hypernatremia, Neonatal hyperbilirubinemia ORPHA:529799
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Leukocytosis, Macrocytic anemia, Abnormally low T cell receptor excision circle level, Reduction ... OMIM:608203
Familial Thyroid Dyshormonogenesis
Abnormal circulating thyroglobulin level, Neonatal hyperbilirubinemia ORPHA:95716
Immunodeficiency 14B, Autosomal Recessive
Thrombocytosis, Leukocytosis, B lymphocytopenia, Monocytosis, Neutrophilia OMIM:619281
Caroli Syndrome
Hepatomegaly, Leukocytosis, Leukopenia, Hyperbilirubinemia, Hypersplenism, Conjugated hyperbiliru... ORPHA:480520
Parenteral Nutrition-Associated Cholestasis
Hepatomegaly, Hyperlipidemia, Abnormal circulating fatty-acid concentration, Splenomegaly, Conjug... ORPHA:567983
Bachmann-Bupp Syndrome
Hyperbilirubinemia OMIM:619075
Fumarase Deficiency
Polycythemia, Hyperbilirubinemia OMIM:606812
Pyruvate Carboxylase Deficiency
Hepatomegaly, Hypernatremia, Neonatal hyperbilirubinemia, Increased level of L-glutamic acid in b... ORPHA:3008
Cholestasis, Progressive Familial Intrahepatic, 5
Elevated alpha-fetoprotein, Conjugated hyperbilirubinemia, Hyperammonemia OMIM:617049
Car T Cell Therapy-Associated Cytokine Release Syndrome
Elevated circulating creatinine concentration, Hyperbilirubinemia ORPHA:542323
Distal Xq28 Microduplication Syndrome
Patent foramen ovale, Neonatal hyperbilirubinemia ORPHA:293939
Carnitine Palmitoyltransferase I Deficiency
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Hyperammonemia, T... OMIM:255120
Intrahepatic Cholestasis Of Pregnancy
Increased serum bile acid concentration, Hyperbilirubinemia ORPHA:69665
Graft Versus Host Disease
Hepatosplenomegaly, Hemophagocytosis, Hyperbilirubinemia ORPHA:39812
Fructose-1,6-Bisphosphatase Deficiency
Hepatomegaly, Hyperalaninemia, Hyperuricemia, Neonatal hyperbilirubinemia ORPHA:348
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Macrocytic anemia, Neutropenia, Abnormal reticulocyte morphology, Abnormal platelet morphology, A... OMIM:300835
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Hyponatremia, Leukocytosis, Unconjugated hyperbilirubinemia, Schistocytosis, Hypokalemia, Microan... ORPHA:90038
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Dilated cardiomyopathy, Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiom... OMIM:600649
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Neonatal hyperbilirubinemia ORPHA:73272
Hepatocellular Carcinoma
Hyponatremia, Hypercalcemia, Hepatomegaly, Thrombocytosis, Hypokalemia, Polycythemia, Anemia, Hyp... ORPHA:88673
Caroli Disease
Hepatomegaly, Leukocytosis, Splenomegaly, Conjugated hyperbilirubinemia, Liver abscess ORPHA:53035
Spastic Paraplegia 29, Autosomal Dominant
Neonatal hyperbilirubinemia OMIM:609727
Deafness-Lymphedema-Leukemia Syndrome
Hepatomegaly, Leukocytosis, Acute leukemia, Splenomegaly, Myeloproliferative disorder, Thrombocyt... ORPHA:3226
Adult-Onset Still Disease
Myocarditis, Hepatomegaly, Leukocytosis, Pericarditis, Abnormal circulating lipid concentration, ... ORPHA:829
Autoimmune Hepatitis
Increased total bilirubin, Splenomegaly ORPHA:2137
Lathosterolosis
Anisopoikilocytosis, Increased mean platelet volume, Schistocytosis, Abnormal circulating cholest... OMIM:607330
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Ventricular septal defect, Anemia, Hyperbilirubinemia, Atrial septal defect, Hypocalcemia, Thromb... ORPHA:163979
X-Linked Intellectual Disability, Nascimento Type
Ventricular septal defect, Neutropenia, Neonatal hyperbilirubinemia, Recurrent cutaneous abscess ... ORPHA:163956
Immunodeficiency 91 And Hyperinflammation
Hepatomegaly, Monocytosis, Neutrophilia, Hepatosplenomegaly, Thrombocytopenia, Elevated circulati... OMIM:619644
Attrv122I Amyloidosis
Hypertrophic cardiomyopathy, Cardiac amyloidosis, Restrictive cardiomyopathy, Cardiomegaly, Anemi... ORPHA:85451
Hereditary Cryohydrocytosis With Reduced Stomatin
Stomatocytosis, Hepatosplenomegaly, Conjugated hyperbilirubinemia, Spontaneous hemolytic crises ORPHA:168577
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Hypertrophic cardiomyopathy, Abnormal heart morphology, Hyperbilirubinemia, Thrombocytopenia ORPHA:464321
Mitchell-Riley Syndrome
Hyperbilirubinemia OMIM:615710
Danon Disease
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Elevated circulating creatine kinase concent... OMIM:300257
Isolated Biliary Atresia
Xanthelasma, Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly ORPHA:30391
Congenital Erythropoietic Porphyria
Reduced haptoglobin level, Unconjugated hyperbilirubinemia, Leukopenia, Erythroid hyperplasia, Sp... ORPHA:79277
Cranioectodermal Dysplasia 2
Hepatomegaly, Polysplenia, Hyperbilirubinemia, Splenomegaly, Left ventricular hypertrophy, Atrial... OMIM:613610
Systemic Mastocytosis With Associated Hematologic Neoplasm
Hepatomegaly, Leukocytosis, Chronic lymphatic leukemia, Normocytic anemia, Normochromic anemia, C... ORPHA:98849
Lissencephaly Due To Lis1 Mutation
Neonatal hyperbilirubinemia ORPHA:95232
Yellow Fever
Leukocytosis, Elevated circulating creatine kinase concentration, Elevated circulating creatinine... ORPHA:99829
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Brain abscess, Anemia, Neutrophilia, Elevated circulating C-reactive protein concentration, Liver... ORPHA:54251
Fructose Intolerance, Hereditary
Hepatomegaly, Hypophosphatemia, Hyperbilirubinemia, Hyperuricemia, Hyperuricosuria, Bicarbonaturia OMIM:229600
Isolated Thyroid-Stimulating Hormone Deficiency
Hypercholesterolemia, Abnormal circulating thyroglobulin level, Neonatal hyperbilirubinemia ORPHA:90674
Congenital Disorder Of Glycosylation, Type Iic
Reduction of neutrophil motility, Neutrophilia OMIM:266265
Degcags Syndrome
Hepatomegaly, Ventricular septal defect, Leukopenia, Iron deficiency anemia, Congenital hypoplast... OMIM:619488
Hypothyroidism Due To Tsh Receptor Mutations
Increased circulating thyroglobulin level, Neonatal hyperbilirubinemia ORPHA:90673
Paroxysmal Nocturnal Hemoglobinuria
Reduced haptoglobin level, Unconjugated hyperbilirubinemia, Leukopenia, Erythroid hyperplasia, An... ORPHA:447
Biliary, Renal, Neurologic, And Skeletal Syndrome
Dextrocardia, Hepatomegaly, Primum atrial septal defect, Ventricular septal defect, Atrioventricu... OMIM:619534
Psoriasis 14, Pustular
Leukocytosis, Elevated circulating C-reactive protein concentration, Neutrophilia OMIM:614204
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Granuloma, Hyperbilirubinemia ORPHA:562639
Primary Biliary Cholangitis
Abnormal circulating lipid concentration, Conjugated hyperbilirubinemia, Hypoalbuminemia ORPHA:186
Mirizzi Syndrome
Hyperbilirubinemia ORPHA:521219
Herpes Simplex Virus Encephalitis
Hyponatremia, Elevated circulating C-reactive protein concentration, Neutrophilia, Leukocytosis ORPHA:1930
Hardikar Syndrome
Hepatomegaly, Ventricular septal defect, Hyperbilirubinemia, Splenomegaly, Hepatosplenomegaly, At... OMIM:301068
Senior-Boichis Syndrome
Hepatosplenomegaly, Anemia, Increased total bilirubin ORPHA:84081
Congenital Tricuspid Valve Dysplasia
Hepatomegaly, Pericardial effusion, Right ventricular hypertrophy, Cardiomegaly, Tricuspid valve ... ORPHA:555874
Cryptogenic Organizing Pneumonia
Leukocytosis, Elevated circulating C-reactive protein concentration, Neutrophilia ORPHA:1302
Sickle Cell Anemia
Hepatomegaly, Leukocytosis, Cardiomegaly, Splenomegaly, Increased red cell sickling tendency, Hem... OMIM:603903
Gaucher Disease, Type Iiic
Hepatomegaly, Mitral valve calcification, Cardiomegaly, Mitral stenosis, Splenomegaly, Aortic val... OMIM:231005
Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis
Hepatomegaly, Abscess, Splenomegaly, Neutrophilia, Elevated circulating C-reactive protein concen... OMIM:612852
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Leukocytosis, Elevated circulating C-reactive protein concentration, Neutrophilia, Increased prop... OMIM:617099
Biliary Malformation With Renal Tubular Insufficiency
Conjugated hyperbilirubinemia OMIM:210550
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Bicuspid aortic valve, Ventricular septal defect, Hyperbilirubinemia OMIM:619475
Staphylococcal Necrotizing Pneumonia
Leukocytosis, Elevated circulating C-reactive protein concentration, Neutrophilia, Leukopenia ORPHA:36238
Sweet Syndrome
Dilated cardiomyopathy, Leukocytosis, Chronic lymphatic leukemia, Sterile abscess, Anemia, Acute ... ORPHA:3243
Hypothyroidism, Congenital, Nongoitrous, 2
Hyperbilirubinemia OMIM:218700
Rajab Interstitial Lung Disease With Brain Calcifications 1
Hypoalbuminemia, Unconjugated hyperbilirubinemia, Anemia, Hypocalcemia, Pancytopenia OMIM:613658
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Conjugated hyperbilirubinemia OMIM:208500
Familial Mediterranean Fever
Hepatomegaly, Leukocytosis, Pericarditis, Elevated circulating amyloid A, Splenomegaly, Neutrophi... OMIM:249100
Heterotaxy, Visceral, 1, X-Linked
Dextrocardia, Ventricular septal defect, Asplenia, Mitral atresia, Double outlet right ventricle,... OMIM:306955
Aorta Coarctation
Bicuspid aortic valve, Perimembranous ventricular septal defect, Cardiomegaly, Abnormal left vent... ORPHA:1457
Congenital Disorder Of Glycosylation, Type Iim
Atrial septal defect, Neonatal hyperbilirubinemia OMIM:300896
Pneumocystosis
Abnormal neutrophil count ORPHA:723
Idiopathic Hypereosinophilic Syndrome
Dilated cardiomyopathy, Leukocytosis, Thrombocytosis, Myocardial eosinophilic infiltration, Anemi... ORPHA:3260
Hyper-Igd Syndrome
Leukocytosis, Hepatosplenomegaly, Neutrophilia, Splenomegaly OMIM:260920
Crimean-Congo Hemorrhagic Fever
Myocarditis, Hepatomegaly, Leukocytosis, Pericardial effusion, Leukopenia, Elevated circulating c... ORPHA:99827
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures
OMIM:619150
Infantile Convulsions And Choreoathetosis
ORPHA:31709

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 Pde2a

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 Pde2a.

No publications found that use IMPC mice or data for Pde2a.

Order Mouse and ES Cells

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MGI Allele Allele Type Produced
Pde2atm2e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Pde2aem4H Point Mutation Mice
Pde2aem3H Point Mutation Mice
Pde2atm2a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Pde2aem2(IMPC)H Exon Deletion Mice
Pde2atm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Pde2aem1(IMPC)H Exon Deletion Mice
Pde2atm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells

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