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Gene: Pde2a MGI:2446107

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Gene Summary

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

Order Alleles

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 bilirubin level Pde2aem1(IMPC)H HET Early adult 5.06×10-05
increased heart weight Pde2aem1(IMPC)H HET Early adult 1.61×10-05
preweaning lethality, complete penetrance Pde2aem1(IMPC)H HOM   Early adult 0.00
increased neutrophil cell number Pde2aem1(IMPC)H HET Early adult 7.54×10-06

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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.

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MicroCT E14.5-E15.5

Embryo reconstruction

6 Images

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X-ray

XRay Images Whole Body Dorso Ventral

8 Images

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X-ray

XRay Images Whole Body Lateral Orientation

8 Images

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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
Compensated hemolytic anemia, Neonatal hyperbilirubinemia, Heinz bodies OMIM:614164
Red Cell Phospholipid Defect With Hemolysis
Hyperbilirubinemia, Splenomegaly, Reticulocytosis OMIM:179700
Crigler-Najjar Syndrome Type 2
Unconjugated hyperbilirubinemia, Neonatal hyperbilirubinemia ORPHA:79235
Hyperbilirubinemia, Shunt, Primary
Hyperbilirubinemia, Erythroid hyperplasia, Reticulocytosis, Hepatomegaly, Anemia of inadequate pr... OMIM:237800
Hemolytic Anemia Due To Glutathione Reductase Deficiency
Hyperbilirubinemia, Fava bean-induced hemolytic anemia OMIM:618660
Cholestasis, Progressive Familial Intrahepatic, 11
Abnormal circulating bilirubin concentration, Increased serum bile acid concentration, Hepatomegaly OMIM:619874
Hyperbilirubinemia, Transient Familial Neonatal
Neonatal unconjugated hyperbilirubinemia OMIM:237900
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
Cholestasis, Progressive Familial Intrahepatic, 12
Hyperbilirubinemia, Increased serum bile acid concentration, Hepatomegaly, Splenomegaly, Conjugat... OMIM:620010
Hypercholanemia, Familial, 2
Unconjugated hyperbilirubinemia, Increased serum bile acid concentration OMIM:619256
Hyperbilirubinemia, Rotor Type
Conjugated hyperbilirubinemia OMIM:237450
Megaloblastic Anemia, Folate-Responsive
Hyperbilirubinemia, Hyperhomocystinemia, Episodic hemolytic anemia, Schistocytosis, Increased cir... OMIM:601775
Dubin-Johnson Syndrome
Conjugated hyperbilirubinemia OMIM:237500
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Anemia, Congenital hemolytic anemia, Increased serum iron, Unconjugated hyperbilirubinemia, Eleva... ORPHA:766
Crigler-Najjar Syndrome, Type I
Unconjugated hyperbilirubinemia OMIM:218800
Spherocytosis, Type 4
Hemolytic anemia, Hyperbilirubinemia, Reticulocytosis, Splenomegaly, Spherocytosis OMIM:612653
Ethanolaminosis
Cardiomegaly OMIM:227150
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To
Stomatocytosis, Hemolytic anemia, Hyperbilirubinemia, Erythroid hyperplasia, Reticulocytosis OMIM:301083
Neutrophilia, Hereditary
Neutrophilia, Splenomegaly OMIM:162830
Cholestasis, Progressive Familial Intrahepatic, 10
Increased total bilirubin, Increased serum bile acid concentration, Hepatomegaly, Hypercholestero... OMIM:619868
Overhydrated Hereditary Stomatocytosis
Stomatocytosis, Hemolytic anemia, Hyperbilirubinemia, Reticulocytosis, Hepatomegaly, Splenomegaly OMIM:185000
Dehydrated Hereditary Stomatocytosis 2
Increased mean corpuscular hemoglobin concentration, Hemolytic anemia, Anisopoikilocytosis, Hyper... OMIM:616689
Spherocytosis, Type 2
Hemolytic anemia, Hyperbilirubinemia, Reticulocytosis, Splenomegaly, Acanthocytosis, Spherocytosis OMIM:616649
Malaria
Elevated circulating C-reactive protein concentration, Anemia, Thrombocytopenia, Hyperbilirubinemia ORPHA:673
Diamond-Blackfan Anemia 18
Erythroid hypoplasia, Neutropenia, Steroid-responsive anemia OMIM:618310
Spherocytosis, Type 1
Hemolytic anemia, Hyperbilirubinemia, Reticulocytosis, Splenomegaly, Spherocytosis OMIM:182900
Rotor Syndrome
Hyperbilirubinemia, Conjugated hyperbilirubinemia ORPHA:3111
Elliptocytosis 2
Elliptocytosis, Neonatal hyperbilirubinemia, Hemolytic anemia, Reticulocytosis OMIM:130600
Bile Acid Synthesis Defect, Congenital, 5
Increased total iron binding capacity, Hyperbilirubinemia, Increased serum bile acid concentratio... OMIM:616278
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Anemia, Erythroid hyperplasia, Hepatosplenomegaly, Decreased mean corpuscular volume, Anisocytosi... OMIM:616860
Crigler-Najjar Syndrome Type 1
Unconjugated hyperbilirubinemia, Neonatal hyperbilirubinemia ORPHA:79234
Edinburgh Malformation Syndrome
Neonatal hyperbilirubinemia OMIM:129850
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Normocytic anemia, Hyperbilirubinemia, Reticulocytosis, Nonspherocytic hemolytic anemia, Splenome... OMIM:235700
Gilbert Syndrome
Unconjugated hyperbilirubinemia OMIM:143500
Specific Granule Deficiency 1
Absent neutrophil specific granules, Hyposegmentation of neutrophil nuclei, Absent neutrophil lac... OMIM:245480
Cardiomyopathy, Dilated, 1I
Cardiomegaly, Dilated cardiomyopathy, Elevated circulating creatine kinase concentration OMIM:604765
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Acute myeloid leukemia, Anemia, Reduced natural killer cell count, Hypertriglyceridemia, Hyperbil... ORPHA:158057
Harderoporphyria
Hemolytic anemia, Reticulocytosis, Neonatal hyperbilirubinemia, Increased circulating ferritin co... OMIM:618892
Anemia, Congenital Dyserythropoietic, Type Iv
Reduced haptoglobin level, Anemia, Reduced hematocrit, Hemolytic anemia, Circulating nucleated re... OMIM:613673
Rh-Null, Regulator Type
Stomatocytosis, Hemolytic anemia, Unconjugated hyperbilirubinemia OMIM:268150
Neutropenia, Severe Congenital, 7, Autosomal Recessive
Neutropenia OMIM:617014
Cholestasis-Lymphedema Syndrome
Hyperlipidemia, Splenomegaly, Hepatomegaly, Conjugated hyperbilirubinemia OMIM:214900
Cholestasis, Benign Recurrent Intrahepatic, 1
Conjugated hyperbilirubinemia, Increased serum bile acid concentration, Hepatomegaly OMIM:243300
Biliary Atresia, Extrahepatic
Increased total bilirubin, Hyperbilirubinemia, Unconjugated hyperbilirubinemia, Hepatomegaly OMIM:210500
Immunodeficiency 110 With Lymphoproliferation
Neutropenia, Lymphopenia, Atrial septal defect OMIM:614868
Citrullinemia, Type Ii, Neonatal-Onset
Hyperlysinemia, Hyperthreoninemia, Hypermethioninemia, Hyperbilirubinemia, Hypertyrosinemia, Decr... OMIM:605814
Hepatic Veno-Occlusive Disease
Increased total bilirubin, Hepatomegaly ORPHA:890
Dehydrated Hereditary Stomatocytosis
Increased total bilirubin, Increased mean corpuscular hemoglobin concentration, Congenital hemoly... ORPHA:3202
Pyruvate Kinase Deficiency Of Red Cells
Reduced haptoglobin level, Unconjugated hyperbilirubinemia, Erythroid hyperplasia, Reticulocytosi... OMIM:266200
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Heinz bodies, Unconjugated hyperbilirubinemia, Fava bean-induced hemolytic anemia, Reticulocytosi... OMIM:300908
Anemia, Congenital Dyserythropoietic, Type Ia
Hemolytic anemia, Hyperbilirubinemia, Erythroid hyperplasia, Reticulocytosis, Macrocytic dyseryth... OMIM:224120
Isolated Polycystic Liver Disease
Increased total bilirubin, Hepatomegaly ORPHA:2924
Neutropenia, Severe Congenital, 2, Autosomal Dominant
Monocytosis, Neutropenia, B lymphocytopenia OMIM:613107
Sickle Cell Anemia
Hemolytic anemia, Unconjugated hyperbilirubinemia, Reticulocytosis, Persistence of hemoglobin F, ... ORPHA:232
Glycogen Storage Disease Vii
Increased total bilirubin, Reduced erythrocyte 2,3-diphosphoglycerate concentration, Hyperuricemi... OMIM:232800
Neutropenia, Lethal Congenital, With Eosinophilia
Neutropenia, Eosinophilia OMIM:257100
Bile Acid Conjugation Defect 1
Conjugated hyperbilirubinemia, Hepatomegaly OMIM:619232
Infantile Sialic Acid Storage Disease
Hepatomegaly, Cardiomegaly, Vacuolated lymphocytes, Splenomegaly, Conjugated hyperbilirubinemia OMIM:269920
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Anemia, Acute monocytic leukemia, Thrombocytosis, Eosinophilia, Monocytosis, Congenital agranuloc... OMIM:202700
Polycystic Liver Disease 1 With Or Without Kidney Cysts
Increased total bilirubin OMIM:174050
Hereditary Elliptocytosis
Stomatocytosis, Congenital hemolytic anemia, Hemolytic anemia, Elliptocytosis, Hyperbilirubinemia... ORPHA:288
Congenital Dyserythropoietic Anemia Type Iii
Anemia, Increased total iron binding capacity, Hyperbilirubinemia, Poikilocytosis, Abnormal eryth... ORPHA:98870
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hyperlysinemia, Abnormal circulating lipid concentration, Hypergalactosemia, Hepatosplenomegaly, ... ORPHA:247598
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults
Acute myeloid leukemia, Neutropenia OMIM:607847
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Increased total bilirubin, Hepatomegaly OMIM:618528
Drug-Induced Autoimmune Hemolytic Anemia
Increased total bilirubin, Autoimmune hemolytic anemia, Splenomegaly ORPHA:90037
Hemophagocytic Lymphohistiocytosis, Familial, 1
Increased total bilirubin, Leukopenia, Anemia, Increased VLDL cholesterol concentration, Increase... OMIM:267700
Bile Acid Synthesis Defect, Congenital, 2
Hyperbilirubinemia, Splenomegaly, Hepatomegaly OMIM:235555
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Leukopenia, Anemia, Enlarged kidney, Hepatomegaly, Extramedullary hematopoiesis, Thrombocytopenia... OMIM:615285
Rh Deficiency Syndrome
Stomatocytosis, Reduced haptoglobin level, Hemolytic anemia, Hyperbilirubinemia, Reticulocytosis,... ORPHA:71275
Cholestasis, Benign Recurrent Intrahepatic, 2
Conjugated hyperbilirubinemia, Hepatomegaly OMIM:605479
Lipoyltransferase 1 Deficiency
Increased total bilirubin, Hyperprolinemia, Hyperglutaminemia OMIM:616299
Wolcott-Rallison Syndrome
Double outlet right ventricle, Lymphocytosis, Hyperbilirubinemia, Atrial septal defect, Hyperammo... ORPHA:1667
Relapsing Fever
Increased total bilirubin, Leukopenia, Anemia, Neutrophilia, Elevated circulating C-reactive prot... ORPHA:91547
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency
Decreased hemoglobin concentration, Hyperbilirubinemia, Hemolytic anemia, Reticulocytosis ORPHA:713
Hereditary Spherocytosis
Increased mean corpuscular hemoglobin concentration, Anemia, Spontaneous hemolytic crises, Restri... ORPHA:822
Hypermanganesemia With Dystonia 1
Hypermanganesemia, Increased total iron binding capacity, Unconjugated hyperbilirubinemia, Polycy... OMIM:613280
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Cardiomegaly, Hypoalbuminemia ORPHA:88643
Felty Syndrome
Neutropenia, Splenomegaly OMIM:134750
Hypermethioninemia Due To Adenosine Kinase Deficiency
Hypermethioninemia, Secundum atrial septal defect, Hyperbilirubinemia, Elevated circulating creat... OMIM:614300
Congenital Bile Acid Synthesis Defect Type 2
Abnormal serum bile acid concentration, Hyperbilirubinemia, Hepatomegaly, Extramedullary hematopo... ORPHA:79303
Hemophagocytic Lymphohistiocytosis, Familial, 2
Increased total bilirubin, Leukopenia, Anemia, Pancytopenia, Hepatosplenomegaly, Increased circul... OMIM:603553
Hepatoportal Sclerosis
Leukopenia, Anemia, Hypersplenism, Hyperbilirubinemia, Thrombocytopenia, Splenomegaly, Hypoalbumi... ORPHA:64743
Anemia, Sideroblastic, 5
Anemia, Reduced hematocrit, Hypochromic microcytic anemia, Thrombocytopenia, Neutropenia OMIM:619523
X-Linked Severe Congenital Neutropenia
Neutropenia, Monocytopenia ORPHA:86788
Dubin-Johnson Syndrome
Conjugated hyperbilirubinemia, Hepatomegaly ORPHA:234
Ras-Associated Autoimmune Leukoproliferative Disorder
Hemolytic anemia, Leukemia, Lymphocytosis, Pancytopenia, Autoimmune thrombocytopenia, Hepatomegal... OMIM:614470
Immunodeficiency 32B
Anemia, Monocytopenia, Neutrophilia, Hepatomegaly, Eosinophilia, Impaired oxidative burst, Thromb... OMIM:226990
Cholestasis, Progressive Familial Intrahepatic, 2
Conjugated hyperbilirubinemia, Splenomegaly, Hepatomegaly OMIM:601847
Congenital Bile Acid Synthesis Defect Type 3
Hyperbilirubinemia, Hepatosplenomegaly ORPHA:79302
Acquired Idiopathic Sideroblastic Anemia
Acute myeloid leukemia, Neutropenia, Megaloblastic erythroid hyperplasia, Granulocytopenia, Normo... ORPHA:75564
Alpha-Thalassemia-Myelodysplastic Syndrome
Neutropenia, HbH hemoglobin, Thrombocytopenia, Acute leukemia, Splenomegaly, Microcytic anemia ORPHA:231401
Bile Acid Synthesis Defect, Congenital, 4
Hyperbilirubinemia, Decreased serum bile acid concentration, Hepatomegaly OMIM:214950
Glycogen Storage Disease Xii
Reduced haptoglobin level, Anemia, Normocytic anemia, Hyperbilirubinemia, Elevated circulating cr... OMIM:611881
Autosomal Dominant Spastic Paraplegia Type 29
Hyperbilirubinemia ORPHA:101009
Mitochondrial Complex I Deficiency, Nuclear Type 36
Cardiomegaly, Hyperalaninemia, Hyperprolinemia, Perimembranous ventricular septal defect OMIM:619170
Cholestasis, Progressive Familial Intrahepatic, 1
Conjugated hyperbilirubinemia, Splenomegaly, Hepatomegaly OMIM:211600
Diamond-Blackfan Anemia 4
Reticulocytopenia, Erythroid hypoplasia, Atrial septal defect, Macrocytic anemia, Neutropenia OMIM:612527
Neutropenia, Severe Congenital, X-Linked
Decreased CD4:CD8 ratio, Monocytopenia, Neutropenia OMIM:300299
Bile Acid Synthesis Defect, Congenital, 1
Hypocholesterolemia, Conjugated hyperbilirubinemia, Splenomegaly, Hepatomegaly OMIM:607765
Cystic Echinococcosis
Peritoneal abscess, Splenic cyst, Hyperbilirubinemia, Abnormal heart morphology, Hepatomegaly, Eo... ORPHA:400
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Acute myeloid leukemia, Anemia, Pancytopenia, Increased mean corpuscular volume, Thrombocytopenia... OMIM:619041
Mixed-Type Autoimmune Hemolytic Anemia
Increased total bilirubin, Autoimmune hemolytic anemia ORPHA:90036
Cholestasis, Progressive Familial Intrahepatic, 8
Elevated circulating alpha-fetoprotein concentration, Increased serum bile acid concentration, He... OMIM:619662
Liver Failure, Infantile, Transient
Hyperbilirubinemia, Hepatomegaly, Hypoalbuminemia OMIM:613070
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Patent foramen ovale, Ventricular septal defect, Atrial septal defect, Thrombocytopenia, Right ve... OMIM:208085
Peroxisome Biogenesis Disorder 12A (Zellweger)
Double outlet right ventricle, Hyperbilirubinemia, Elevated circulating long chain fatty acid con... OMIM:614886
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Conjugated hyperbilirubinemia, Right ventricular hypertrophy, Ventricular septal defect, Hepatome... OMIM:613404
Idiopathic Congenital Hypothyroidism
Neonatal hyperbilirubinemia ORPHA:95717
Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies
Abnormal circulating thyroglobulin level, Conjugated hyperbilirubinemia ORPHA:95715
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Ventricular hypertrophy, Hemolytic anemia, Unconjugated hyperbilirubinemia, Elliptocytosis, Retic... OMIM:618278
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Impaired neutrophil chemotaxis, Neutrophilia, Abnormally low T cell receptor excision circle leve... OMIM:608203
Osteopetrosis, Autosomal Recessive 5
Anemia, Hyperbilirubinemia, Extramedullary hematopoiesis, Hypocalcemia, Pancytopenia, Hepatosplen... OMIM:259720
Mitochondrial Complex I Deficiency, Nuclear Type 39
Anemia, Perimembranous ventricular septal defect, Atrial septal defect, Hypertrophic cardiomyopat... OMIM:620135
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hyperbilirubinemia, Elevated circulating alpha-fetoprotein concentration, Hepatomegaly, Thrombocy... OMIM:251880
Bile Acid Synthesis Defect, Congenital, 3
Hyperbilirubinemia, Splenomegaly, Hepatomegaly OMIM:613812
Neurodevelopmental Disorder With Microcephaly, Seizures, And Neonatal Cholestasis
Hyperbilirubinemia, Increased serum bile acid concentration OMIM:619685
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Increased total bilirubin, Decreased plasma free carnitine, Enlarged kidney, Dilated cardiomyopat... OMIM:608836
Adult Idiopathic Neutropenia
Monocytopenia, Lymphopenia, Abnormal neutrophil count, Monocytosis, Neutropenia ORPHA:2688
Cholestasis, Progressive Familial Intrahepatic, 6
Conjugated hyperbilirubinemia OMIM:619484
Fanconi Anemia, Complementation Group V
Anemia, Thrombocytopenia, Neutropenia, Elevated circulating alpha-fetoprotein concentration OMIM:617243
Pearson Marrow-Pancreas Syndrome
Anemia, Reticulocytopenia, Hyperbilirubinemia, Refractory sideroblastic anemia, Sideroblastic ane... OMIM:557000
Cholestasis, Progressive Familial Intrahepatic, 5
Hyperammonemia, Conjugated hyperbilirubinemia, Elevated circulating alpha-fetoprotein concentration OMIM:617049
Immunodeficiency 14B, Autosomal Recessive
B lymphocytopenia, Neutrophilia, Thrombocytosis, Leukocytosis, Monocytosis OMIM:619281
Abetalipoproteinemia
Anemia, Decreased LDL cholesterol concentration, Hyperbilirubinemia, Reticulocytosis, Abnormal ci... ORPHA:14
Chronic Bilirubin Encephalopathy
Neonatal hyperbilirubinemia, Hypernatremia, Hemolytic anemia, Hypoalbuminemia ORPHA:529808
Acute Bilirubin Encephalopathy
Neonatal hyperbilirubinemia, Hypernatremia, Hemolytic anemia, Hypoalbuminemia ORPHA:529799
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Hyperbilirubinemia OMIM:609734
Familial Thyroid Dyshormonogenesis
Abnormal circulating thyroglobulin level, Neonatal hyperbilirubinemia ORPHA:95716
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Dilated cardiomyopathy, Elevated circulating creatine kinase concentration, Hyperammonemia, Hepat... OMIM:600649
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects
Stomatocytosis, Hemolytic anemia, Hyperkalemia, Hepatomegaly, Splenomegaly, Conjugated hyperbilir... OMIM:608885
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Hypermethioninemia, Hyperbilirubinemia, Hypertyrosinemia, Conjugated hyperbilirubinemia, Hypoalbu... OMIM:617156
Bachmann-Bupp Syndrome
Hyperbilirubinemia OMIM:619075
Combined Oxidative Phosphorylation Deficiency 41
Cardiomegaly, Anemia, Elevated circulating creatine kinase concentration OMIM:618838
Caroli Syndrome
Leukopenia, Liver abscess, Hypersplenism, Hyperbilirubinemia, Leukocytosis, Hepatomegaly, Thrombo... ORPHA:480520
Fumarase Deficiency
Hyperbilirubinemia, Polycythemia OMIM:606812
Pyruvate Carboxylase Deficiency
Hyperlysinemia, Hyperalaninemia, Hypoglutaminemia, Hypertaurinemia, Neonatal hyperbilirubinemia, ... ORPHA:3008
Graft Versus Host Disease
Hyperbilirubinemia, Hemophagocytosis, Hepatosplenomegaly ORPHA:39812
Car T Cell Therapy-Associated Cytokine Release Syndrome
Elevated circulating creatinine concentration, Hyperbilirubinemia ORPHA:542323
Fructose-1,6-Bisphosphatase Deficiency
Hyperalaninemia, Hyperuricemia, Neonatal hyperbilirubinemia, Hepatomegaly ORPHA:348
Hepatocellular Carcinoma
Anemia, Liver abscess, Hypokalemia, Hyperbilirubinemia, Polycythemia, Thrombocytosis, Hepatomegal... ORPHA:88673
Distal Xq28 Microduplication Syndrome
Patent foramen ovale, Neonatal hyperbilirubinemia ORPHA:293939
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Unconjugated hyperbilirubinemia, Microangiopathic hemolytic anemia, Hypokalemia, Reticulocytosis,... ORPHA:90038
Attrv122I Amyloidosis
Anemia, Restrictive cardiomyopathy, Left ventricular hypertrophy, Increased circulating NT-proBNP... ORPHA:85451
Peroxisome Biogenesis Disorder 13A (Zellweger)
Increased circulating very long-chain fatty acid concentration, Conjugated hyperbilirubinemia, He... OMIM:614887
Cardiomyopathy, Familial Hypertrophic, 27
Concentric hypertrophic cardiomyopathy, Ventricular septal hypertrophy, Hypertrophic cardiomyopat... OMIM:618052
Spastic Paraplegia 29, Autosomal Dominant
Neonatal hyperbilirubinemia OMIM:609727
Wilson Disease
Anemia, Hemolytic anemia, Decreased circulating ceruloplasmin concentration, Increased circulatin... OMIM:277900
Deafness-Lymphedema-Leukemia Syndrome
Abnormal neutrophil count, Hepatomegaly, Myeloproliferative disorder, Leukocytosis, Thrombocytope... ORPHA:3226
Intrahepatic Cholestasis Of Pregnancy
Hyperbilirubinemia, Increased serum bile acid concentration ORPHA:69665
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Neonatal hyperbilirubinemia ORPHA:73272
Adult-Onset Still Disease
Abnormal circulating lipid concentration, Neutrophilia, Pericarditis, Elevated circulating C-reac... ORPHA:829
Caroli Disease
Liver abscess, Abnormal circulating alpha-fetoprotein concentration, Leukocytosis, Hepatomegaly, ... ORPHA:53035
Parenteral Nutrition-Associated Cholestasis
Abnormal circulating fatty-acid concentration, Hyperlipidemia, Hepatomegaly, Splenomegaly, Conjug... ORPHA:567983
Lathosterolosis
Abnormal circulating cholesterol concentration, Anisopoikilocytosis, Hyperbilirubinemia, Hepatosp... OMIM:607330
Reynolds Syndrome
Calcinosis, Hyperbilirubinemia, Lymphopenia, Hepatomegaly, Splenomegaly OMIM:613471
Immunodeficiency 91 And Hyperinflammation
Neutrophilia, Hepatosplenomegaly, Hemophagocytosis, Elevated circulating C-reactive protein conce... OMIM:619644
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Hypertrophic cardiomyopathy, Thrombocytopenia, Hyperbilirubinemia, Abnormal heart morphology ORPHA:464321
Autoimmune Hepatitis
Increased total bilirubin, Splenomegaly ORPHA:2137
Pituitary Hormone Deficiency, Combined, 6
Hyperbilirubinemia OMIM:613986
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Anemia, Ventricular septal defect, Hyperbilirubinemia, Hypocalcemia, Atrial septal defect, Thromb... ORPHA:163979
Liver Disease, Severe Congenital
Subvalvular aortic stenosis, Elevated circulating alpha-fetoprotein concentration, Hepatomegaly, ... OMIM:619991
X-Linked Intellectual Disability, Nascimento Type
Patent foramen ovale, Double outlet right ventricle, Ventricular septal defect, Neutropenia, Mitr... ORPHA:163956
Hereditary Cryohydrocytosis With Reduced Stomatin
Stomatocytosis, Spontaneous hemolytic crises, Conjugated hyperbilirubinemia, Hepatosplenomegaly ORPHA:168577
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Elliptocytosis, Poikilocytosis, Anisocytosis, Macrocytic anemia, Thrombocytopenia, Neutropenia, A... OMIM:300835
Peroxisome Biogenesis Disorder 5A (Zellweger)
Ventricular septal defect, Elevated circulating phytanic acid concentration, Increased circulatin... OMIM:614866
Ogden Syndrome
Patent foramen ovale, Ventricular septal defect, Perimembranous ventricular septal defect, Bicusp... OMIM:300855
Systemic Mastocytosis With Associated Hematologic Neoplasm
Acute myeloid leukemia, Myeloid leukemia, Increased basophil count, Chronic lymphatic leukemia, C... ORPHA:98849
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Anemia, Brain abscess, Liver abscess, Neutrophilia, Elevated circulating C-reactive protein conce... ORPHA:54251
Congenital Erythropoietic Porphyria
Reduced haptoglobin level, Leukopenia, Abnormal circulating porphyrin concentration, Hemolytic an... ORPHA:79277
Mitchell-Riley Syndrome
Hyperbilirubinemia OMIM:615710
Lissencephaly Due To Lis1 Mutation
Neonatal hyperbilirubinemia ORPHA:95232
Yellow Fever
Pancreatic hyperplasia, Hyperbilirubinemia, Neutrophilia, Elevated circulating creatine kinase co... ORPHA:99829
Isolated Biliary Atresia
Conjugated hyperbilirubinemia, Splenomegaly, Hepatomegaly ORPHA:30391
Cranioectodermal Dysplasia 2
Patent foramen ovale, Polysplenia, Hyperbilirubinemia, Left ventricular hypertrophy, Atrial septa... OMIM:613610
Paroxysmal Nocturnal Hemoglobinuria
Reduced haptoglobin level, Leukopenia, Anemia, Hemolytic anemia, Unconjugated hyperbilirubinemia,... ORPHA:447
Hardikar Syndrome
Patent foramen ovale, Ventricular septal defect, Hypersplenism, Hyperbilirubinemia, Atrial septal... OMIM:301068
Degcags Syndrome
Patent foramen ovale, Anemia, Leukopenia, Ventricular septal defect, Abnormal spleen morphology, ... OMIM:619488
Psoriasis 14, Pustular
Neutrophilia, Elevated circulating C-reactive protein concentration, Leukocytosis OMIM:614204
Sickle Cell Disease
Hemolytic anemia, Target cells, Splenic infarction, Increased red cell sickling tendency, Hepatom... OMIM:603903
Herpes Simplex Virus Encephalitis
Neutrophilia, Elevated circulating C-reactive protein concentration, Leukocytosis, Hyponatremia ORPHA:1930
Fructose Intolerance, Hereditary
Hyperuricemia, Hypophosphatemia, Hyperbilirubinemia, Hepatomegaly, Bicarbonaturia OMIM:229600
Hypothyroidism Due To Tsh Receptor Mutations
Increased circulating thyroglobulin level, Neonatal hyperbilirubinemia ORPHA:90673
Congenital Tricuspid Valve Dysplasia
Patent foramen ovale, Cardiomegaly, Pericardial effusion, Abnormal tricuspid valve leaflet morpho... ORPHA:555874
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Granuloma, Hyperbilirubinemia ORPHA:562639
Mirizzi Syndrome
Hyperbilirubinemia ORPHA:521219
Cryptogenic Organizing Pneumonia
Neutrophilia, Elevated circulating C-reactive protein concentration, Leukocytosis ORPHA:1302
Biliary, Renal, Neurologic, And Skeletal Syndrome
Hypercholesterolemia, Atrioventricular canal defect, Patent foramen ovale, Unbalanced atrioventri... OMIM:619534
Primary Biliary Cholangitis
Abnormal circulating lipid concentration, Conjugated hyperbilirubinemia, Hypoalbuminemia ORPHA:186
Senior-Boichis Syndrome
Increased total bilirubin, Anemia, Hepatosplenomegaly ORPHA:84081
Isolated Thyroid-Stimulating Hormone Deficiency
Abnormal circulating thyroglobulin level, Neonatal hyperbilirubinemia, Hypercholesterolemia ORPHA:90674
Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis
Neutrophilia, Elevated circulating C-reactive protein concentration, Hepatomegaly, Splenomegaly, ... OMIM:612852
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Neutrophilia, Increased proportion of CD4-positive T cells, Elevated circulating C-reactive prote... OMIM:617099
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Bicuspid aortic valve, Hyperbilirubinemia, Ventricular septal defect OMIM:619475
Hypothyroidism, Congenital, Nongoitrous, 2
Increased circulating thyroglobulin level, Hyperbilirubinemia OMIM:218700
Sweet Syndrome
Acute myeloid leukemia, Anemia, Sterile abscess, Chronic lymphatic leukemia, Neutrophilia, Dilate... ORPHA:3243
Rajab Interstitial Lung Disease With Brain Calcifications 1
Anemia, Unconjugated hyperbilirubinemia, Pancytopenia, Hypocalcemia, Hypoalbuminemia OMIM:613658
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Patent foramen ovale, Ventricular septal defect, Hyperbilirubinemia, Atrial septal defect, Muscul... OMIM:210710
Familial Mediterranean Fever
Neutrophilia, Pericarditis, Elevated circulating C-reactive protein concentration, Leukocytosis, ... OMIM:249100
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Conjugated hyperbilirubinemia OMIM:208500
Congenital Disorder Of Glycosylation, Type Iim
Neonatal hyperbilirubinemia, Atrial septal defect OMIM:300896
Pneumocystosis
Abnormal neutrophil count ORPHA:723
Infantile Convulsions And Choreoathetosis
ORPHA:31709
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures
OMIM:619150

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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