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
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
increased heart weight Pde2aem1(IMPC)H HET Early adult 1.61×10-05
increased circulating bilirubin level Pde2aem1(IMPC)H HET Early adult 5.06×10-05

Download data as:  TSV  XLS

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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

MicroCT E14.5-E15.5

Embryo reconstruction

6 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
Compensated hemolytic anemia, Neonatal hyperbilirubinemia, Heinz bodies OMIM:614164
Red Cell Phospholipid Defect With Hemolysis
Hyperbilirubinemia, Splenomegaly, Reticulocytosis OMIM:179700
Hemolytic Anemia Due To Glutathione Reductase Deficiency
Hyperbilirubinemia, Fava bean-induced hemolytic anemia, Reduced erythrocyte glutathione reductase... OMIM:618660
Crigler-Najjar Syndrome Type 2
Neonatal hyperbilirubinemia, Unconjugated hyperbilirubinemia ORPHA:79235
Hyperbilirubinemia, Shunt, Primary
Hepatomegaly, Hyperbilirubinemia, Anemia of inadequate production, Reticulocytosis, Splenomegaly,... OMIM:237800
Cholestasis, Progressive Familial Intrahepatic, 11
Hepatomegaly, Abnormal circulating bilirubin concentration, Increased serum bile acid concentration OMIM:619874
Hyperbilirubinemia, Transient Familial Neonatal
Neonatal unconjugated hyperbilirubinemia OMIM:237900
Jaundice, Familial Obstructive, Of Infancy
Neonatal hyperbilirubinemia OMIM:308600
Hyperbilirubinemia, Conjugated, Type Iii
Conjugated hyperbilirubinemia OMIM:237550
Cholestasis, Progressive Familial Intrahepatic, 12
Hepatomegaly, Increased serum bile acid concentration, Hyperbilirubinemia, Splenomegaly, Conjugat... OMIM:620010
Hypercholanemia, Familial, 2
Increased serum bile acid concentration, Unconjugated hyperbilirubinemia OMIM:619256
Hyperbilirubinemia, Rotor Type
Conjugated hyperbilirubinemia OMIM:237450
Megaloblastic Anemia, Folate-Responsive
Increased circulating ferritin concentration, Hyperhomocystinemia, Folate-responsive megaloblasti... OMIM:601775
Dubin-Johnson Syndrome
Conjugated hyperbilirubinemia OMIM:237500
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Chronic hemolytic anemia, Anemia, Reduced red cell pyruvate kinase level, Reticulocytosis, Poikil... ORPHA:766
Crigler-Najjar Syndrome, Type Ii
Unconjugated hyperbilirubinemia OMIM:606785
Cholestasis, Progressive Familial Intrahepatic, 10
Hepatomegaly, Increased serum bile acid concentration, Increased total bilirubin, Splenomegaly, C... OMIM:619868
Ethanolaminosis
Cardiomegaly OMIM:227150
Spherocytosis, Type 4
Hyperbilirubinemia, Spherocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia OMIM:612653
Neutrophilia, Hereditary
Neutrophilia, Splenomegaly OMIM:162830
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To
Hyperbilirubinemia, Reduced erythrocyte adenosine triphosphate concentration, Reticulocytosis, Er... OMIM:301083
Rotor Syndrome
Hyperbilirubinemia, Conjugated hyperbilirubinemia ORPHA:3111
Crigler-Najjar Syndrome, Type I
Unconjugated hyperbilirubinemia OMIM:218800
Malaria
Hyperbilirubinemia, Thrombocytopenia, Anemia, Elevated circulating C-reactive protein concentration ORPHA:673
Dehydrated Hereditary Stomatocytosis 2
Anisopoikilocytosis, Hepatomegaly, Increased mean corpuscular hemoglobin concentration, Increased... OMIM:616689
Spherocytosis, Type 2
Hyperbilirubinemia, Spherocytosis, Reticulocytosis, Splenomegaly, Acanthocytosis, Hemolytic anemia OMIM:616649
Rh-Null, Amorph Type
Hyperbilirubinemia, Reticulocytosis, Anisocytosis, Stomatocytosis, Hemolytic anemia OMIM:617970
Diamond-Blackfan Anemia 18
Steroid-responsive anemia, Erythroid hypoplasia, Neutropenia OMIM:618310
Spherocytosis, Type 1
Hyperbilirubinemia, Spherocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia OMIM:182900
Crigler-Najjar Syndrome Type 1
Neonatal hyperbilirubinemia, Unconjugated hyperbilirubinemia ORPHA:79234
Elliptocytosis 2
Elliptocytosis, Neonatal hyperbilirubinemia, Hemolytic anemia, Reticulocytosis OMIM:130600
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Normocytic anemia, Normochromic anemia, Hyperbilirubinemia, Nonspherocytic hemolytic anemia, Reti... OMIM:235700
Bile Acid Synthesis Defect, Congenital, 5
Hepatomegaly, Increased total iron binding capacity, Increased serum bile acid concentration, Iro... OMIM:616278
Edinburgh Malformation Syndrome
Neonatal hyperbilirubinemia OMIM:129850
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Hepatomegaly, Anemia, Hypochromia, Elevated hepatic iron concentration, Anisocytosis, Hepatosplen... OMIM:616860
Gilbert Syndrome
Unconjugated hyperbilirubinemia OMIM:143500
Cardiomyopathy, Dilated, 1I
Cardiomegaly, Dilated cardiomyopathy, Elevated circulating creatine kinase concentration OMIM:604765
Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia Due To
Hyperbilirubinemia, Hemolytic anemia, Reticulocytosis OMIM:266120
Specific Granule Deficiency 1
Abnormal neutrophil count, Hyposegmentation of neutrophil nuclei, Impaired neutrophil bactericida... OMIM:245480
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Hypertriglyceridemia, Increased circulating ferritin concentration, Anemia, Acute myeloid leukemi... ORPHA:158057
Cholestasis-Lymphedema Syndrome
Hepatomegaly, Hyperlipidemia, Splenomegaly, Conjugated hyperbilirubinemia OMIM:214900
Harderoporphyria
Hepatomegaly, Reticulocytosis, Splenomegaly, Neonatal hyperbilirubinemia, Increased circulating f... OMIM:618892
Rh-Null, Regulator Type
Stomatocytosis, Hemolytic anemia, Unconjugated hyperbilirubinemia OMIM:268150
Immunodeficiency 53
Neutrophilia, Impaired lymphocyte transformation with phytohemagglutinin OMIM:617585
Anemia, Congenital Dyserythropoietic, Type Iv
Reduced hematocrit, Anemia, Hepatomegaly, Reduced haptoglobin level, Hyperbilirubinemia, Anemia o... OMIM:613673
Cholestasis, Benign Recurrent Intrahepatic, 1
Hepatomegaly, Increased serum bile acid concentration, Conjugated hyperbilirubinemia OMIM:243300
Citrullinemia, Type Ii, Neonatal-Onset
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Elevated plasma citrulline, Increa... OMIM:605814
Overhydrated Hereditary Stomatocytosis
Hepatomegaly, Increased mean corpuscular volume, Hyperbilirubinemia, Reticulocytosis, Splenomegal... OMIM:185000
Biliary Atresia, Extrahepatic
Increased total bilirubin, Hyperbilirubinemia, Hepatomegaly, Unconjugated hyperbilirubinemia OMIM:210500
Hepatic Veno-Occlusive Disease
Increased total bilirubin, Hepatomegaly ORPHA:890
Pyruvate Kinase Deficiency Of Red Cells
Chronic hemolytic anemia, Hepatomegaly, Reduced red cell pyruvate kinase level, Reduced haptoglob... OMIM:266200
Dehydrated Hereditary Stomatocytosis
Macrocytic anemia, Increased mean corpuscular hemoglobin concentration, Increased mean corpuscula... ORPHA:3202
Isolated Polycystic Liver Disease
Increased total bilirubin, Hepatomegaly ORPHA:2924
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Fava bean-induced hemolytic anemia, Leukocytosis, Reticulocytosis, Poikilocytosis, Unconjugated h... OMIM:300908
Anemia, Congenital Dyserythropoietic, Type Ia
Hepatomegaly, Hyperbilirubinemia, Macrocytic dyserythropoietic anemia, Anemia of inadequate produ... OMIM:224120
Neutropenia, Severe Congenital, 2, Autosomal Dominant
B lymphocytopenia, Monocytosis, Neutropenia OMIM:613107
Infantile Sialic Acid Storage Disease
Hepatomegaly, Vacuolated lymphocytes, Splenomegaly, Conjugated hyperbilirubinemia, Cardiomegaly OMIM:269920
Bile Acid Conjugation Defect 1
Hepatomegaly, Conjugated hyperbilirubinemia OMIM:619232
Neutropenia, Lethal Congenital, With Eosinophilia
Eosinophilia, Neutropenia OMIM:257100
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Anemia, Thrombocytosis, Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monoc... OMIM:202700
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hypertriglyceridemia, Abnormal circulating lipid concentration, Decreased HDL cholesterol concent... ORPHA:247598
Congenital Dyserythropoietic Anemia Type Iii
Increased total iron binding capacity, Anemia, Increased mean corpuscular volume, Hyperbilirubine... ORPHA:98870
Polycystic Liver Disease 1 With Or Without Kidney Cysts
Increased total bilirubin OMIM:174050
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults
Acute myeloid leukemia, Neutropenia OMIM:607847
Drug-Induced Autoimmune Hemolytic Anemia
Autoimmune hemolytic anemia, Increased total bilirubin, Splenomegaly ORPHA:90037
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hepatomegaly, Anemia, Hemophagocyt... OMIM:267700
Hypermethioninemia Due To Adenosine Kinase Deficiency
Elevated circulating S-adenosyl-L-homocysteine concentration, Hyperbilirubinemia, Elevated circul... OMIM:614300
Neutropenia, Severe Congenital, 10, Autosomal Recessive
Anorectal abscess, Anemia, Thrombocytopenia, Monocytosis, Neutropenia OMIM:620534
Bile Acid Synthesis Defect, Congenital, 2
Hyperbilirubinemia, Hepatomegaly, Splenomegaly OMIM:235555
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Enlarged kidney, Hepatomegaly, Anemia, Thrombocytopenia, Splenomegaly, Leukopenia, Extramedullary... OMIM:615285
Cholestasis, Benign Recurrent Intrahepatic, 2
Hepatomegaly, Conjugated hyperbilirubinemia OMIM:605479
Rh Deficiency Syndrome
Reduced haptoglobin level, Macrocytic anemia, Hyperbilirubinemia, Hypochromia, Spherocytosis, Ret... ORPHA:71275
Lipoyltransferase 1 Deficiency
Increased total bilirubin, Hyperglutaminemia, Hyperprolinemia OMIM:616299
Relapsing Fever
Anemia, Elevated circulating C-reactive protein concentration, Leukocytosis, Increased total bili... ORPHA:91547
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome
Neonatal hyperbilirubinemia ORPHA:3363
Hereditary Elliptocytosis
Hyperbilirubinemia, Reticulocytosis, Poikilocytosis, Elliptocytosis, Splenomegaly, Neonatal hyper... ORPHA:288
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency
Decreased hemoglobin concentration, Hyperbilirubinemia, Hemolytic anemia, Reticulocytosis ORPHA:713
Wolcott-Rallison Syndrome
Hepatomegaly, Iron deficiency anemia, Lymphocytosis, Hyperbilirubinemia, Hyperammonemia, Hyponatr... ORPHA:1667
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Hyperkalemia, Hepatomegaly, Increased total bilirubin, Conjugated hyperbilirubinemia, Hypoalbumin... OMIM:618528
Hypermanganesemia With Dystonia 1
Hepatomegaly, Increased total iron binding capacity, Unconjugated hyperbilirubinemia, Polycythemi... OMIM:613280
Hereditary Spherocytosis
Hepatomegaly, Anemia, Spontaneous hemolytic crises, Increased mean corpuscular hemoglobin concent... ORPHA:822
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Cardiomegaly, Hypoalbuminemia ORPHA:88643
Glycogen Storage Disease Vii
Hyperuricemia, Elevated circulating creatine kinase concentration, Reticulocytosis, Increased tot... OMIM:232800
Felty Syndrome
Splenomegaly, Neutropenia OMIM:134750
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hypertriglyceridemia, Hepatomegaly, Anemia, Hemophagocytosis, Pancytopenia, Hypoproteinemia, Incr... OMIM:603553
Congenital Bile Acid Synthesis Defect Type 2
Hepatomegaly, Hyperbilirubinemia, Abnormal serum bile acid concentration, Conjugated hyperbilirub... ORPHA:79303
Dubin-Johnson Syndrome
Hepatomegaly, Conjugated hyperbilirubinemia ORPHA:234
Hepatoportal Sclerosis
Anemia, Hyperbilirubinemia, Thrombocytopenia, Leukopenia, Splenomegaly, Hypoalbuminemia, Hyperspl... ORPHA:64743
Anemia, Sideroblastic, 5
Reduced hematocrit, Hypochromic microcytic anemia, Anemia, Thrombocytopenia, Neutropenia OMIM:619523
X-Linked Severe Congenital Neutropenia
Monocytopenia, Neutropenia ORPHA:86788
Cholestasis, Progressive Familial Intrahepatic, 2
Hepatomegaly, Splenomegaly, Conjugated hyperbilirubinemia OMIM:601847
Amegakaryocytic Thrombocytopenia, Congenital, 2
Aplastic anemia, Anemia, Pancytopenia, Thrombocytopenia, Elevated circulating alpha-fetoprotein c... OMIM:620481
Fetal Cytomegalovirus Syndrome
Hepatomegaly, Anemia, Thrombocytopenia, Splenomegaly, Conjugated hyperbilirubinemia ORPHA:294
Hijazi-Reis Syndrome
Hyperbilirubinemia OMIM:301094
Immunodeficiency 32B
Hepatomegaly, Anemia, Monocytopenia, Neutrophilia, Thrombocytopenia, Splenomegaly, Hypoalbuminemi... OMIM:226990
Acquired Idiopathic Sideroblastic Anemia
Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Normochromic anemia, Pancytopenia, Anemi... ORPHA:75564
Congenital Bile Acid Synthesis Defect Type 3
Hyperbilirubinemia, Hepatosplenomegaly ORPHA:79302
Alpha-Thalassemia-Myelodysplastic Syndrome
Acute leukemia, HbH hemoglobin, Thrombocytopenia, Splenomegaly, Microcytic anemia, Neutropenia ORPHA:231401
Mitochondrial Complex I Deficiency, Nuclear Type 36
Cardiomegaly, Perimembranous ventricular septal defect, Hyperprolinemia, Hyperalaninemia OMIM:619170
Bile Acid Synthesis Defect, Congenital, 4
Hyperbilirubinemia, Decreased serum bile acid concentration, Hepatomegaly OMIM:214950
Glycogen Storage Disease Xii
Normocytic anemia, Hepatomegaly, Anemia, Decreased erythrocyte fructose-1,6-bisphosphate aldolase... OMIM:611881
Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies
Abnormal circulating thyroglobulin concentration, Conjugated hyperbilirubinemia ORPHA:95715
Cholestasis, Progressive Familial Intrahepatic, 1
Hepatomegaly, Splenomegaly, Conjugated hyperbilirubinemia OMIM:211600
Autosomal Dominant Spastic Paraplegia Type 29
Hyperbilirubinemia ORPHA:101009
Bile Acid Synthesis Defect, Congenital, 1
Hypocholesterolemia, Hepatomegaly, Splenomegaly, Conjugated hyperbilirubinemia OMIM:607765
Diamond-Blackfan Anemia 4
Erythroid hypoplasia, Macrocytic anemia, Reticulocytopenia, Atrial septal defect, Neutropenia OMIM:612527
Sickle Cell Anemia
Chronic hemolytic anemia, Iron deficiency anemia, Increased mean corpuscular volume, Leukocytosis... ORPHA:232
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Anemia, Acute myeloid leukemia, Pancytopenia, Increased mean corpuscular volume, Thrombocytopenia... OMIM:619041
Idiopathic Congenital Hypothyroidism
Neonatal hyperbilirubinemia ORPHA:95717
Neutropenia, Severe Congenital, X-Linked
Monocytopenia, Decreased CD4:CD8 ratio, Neutropenia OMIM:300299
Cystic Echinococcosis
Hepatomegaly, Splenic cyst, Hyperbilirubinemia, Peritoneal abscess, Abnormal heart morphology, Eo... ORPHA:400
Mixed-Type Autoimmune Hemolytic Anemia
Autoimmune hemolytic anemia, Increased total bilirubin ORPHA:90036
Peroxisome Biogenesis Disorder 12A (Zellweger)
Double outlet right ventricle, Hyperbilirubinemia, Atrial septal defect, Elevated circulating lon... OMIM:614886
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome
Increased mean platelet volume, Thrombocytopenia, Iron deficiency anemia, Neutropenia ORPHA:494444
Cholestasis, Progressive Familial Intrahepatic, 8
Hepatomegaly, Increased serum bile acid concentration, Elevated circulating alpha-fetoprotein con... OMIM:619662
Liver Failure, Infantile, Transient
Hypoalbuminemia, Hepatomegaly, Hyperbilirubinemia OMIM:613070
Mitochondrial Complex I Deficiency, Nuclear Type 39
Perimembranous ventricular septal defect, Anemia, Hypertrophic cardiomyopathy, Cardiomegaly, Atri... OMIM:620135
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Conjugated hyperbilirubinemia, Hepatomegaly, Ventricular septal defect, Right ventricular hypertr... OMIM:613404
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Patent foramen ovale, Thrombocytopenia, Right ventricular hypertrophy, Conjugated hyperbilirubine... OMIM:208085
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Macrocytic anemia, Rectal abscess, Reduction of neutrophil motility, Leukocytosis, Neutrophilia, ... OMIM:608203
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Chronic hemolytic anemia, Hepatomegaly, Ventricular hypertrophy, Leukocytosis, Reticulocytosis, P... OMIM:618278
Osteopetrosis, Autosomal Recessive 5
Hepatomegaly, Anemia, Hypochromic microcytic anemia, Pancytopenia, Hypocalcemia, Hyperbilirubinem... OMIM:259720
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Enlarged kidney, Hepatomegaly, Elevated circulating creatinine concentration, Elevated circulatin... OMIM:608836
Neurodevelopmental Disorder With Microcephaly, Seizures, And Neonatal Cholestasis
Hyperbilirubinemia, Increased serum bile acid concentration OMIM:619685
Cholestasis, Progressive Familial Intrahepatic, 6
Conjugated hyperbilirubinemia OMIM:619484
Bile Acid Synthesis Defect, Congenital, 3
Hyperbilirubinemia, Hepatomegaly, Splenomegaly OMIM:613812
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Hepatomegaly, Elevated circulating creatine kinase concentration, Hyperammonemia, Cardiomegaly, D... OMIM:600649
Fanconi-Bickel Syndrome
Hepatomegaly, Increased serum bile acid concentration, Hypokalemia, Hypouricemia, Hyperbilirubine... OMIM:227810
Abetalipoproteinemia
Decreased HDL cholesterol concentration, Hepatomegaly, Anemia, Hypotriglyceridemia, Hyperbilirubi... ORPHA:14
Thrombocytopenia 5
Anemia, Increased mean corpuscular volume, B Acute Lymphoblastic Leukemia, Thrombocytopenia, Neut... OMIM:616216
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hepatomegaly, Hyperbilirubinemia, Thrombocytopenia, Splenomegaly, Elevated circulating alpha-feto... OMIM:251880
Pearson Marrow-Pancreas Syndrome
Hepatomegaly, Refractory sideroblastic anemia, Anemia, Pancytopenia, Hyperbilirubinemia, Reticulo... OMIM:557000
Immunodeficiency 14B, Autosomal Recessive
Monocytosis, B lymphocytopenia, Leukocytosis, Neutrophilia, Thrombocytosis OMIM:619281
Chronic Bilirubin Encephalopathy
Hypernatremia, Hypoalbuminemia, Neonatal hyperbilirubinemia, Hemolytic anemia ORPHA:529808
Acute Bilirubin Encephalopathy
Hypernatremia, Hypoalbuminemia, Neonatal hyperbilirubinemia, Hemolytic anemia ORPHA:529799
Cholestasis, Progressive Familial Intrahepatic, 5
Hyperammonemia, Elevated circulating alpha-fetoprotein concentration, Conjugated hyperbilirubinemia OMIM:617049
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Hyperbilirubinemia OMIM:609734
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects
Hyperkalemia, Hepatomegaly, Splenomegaly, Conjugated hyperbilirubinemia, Stomatocytosis, Hemolyti... OMIM:608885
Fanconi Anemia, Complementation Group V
Thrombocytopenia, Anemia, Elevated circulating alpha-fetoprotein concentration, Neutropenia OMIM:617243
Bachmann-Bupp Syndrome
Hyperbilirubinemia OMIM:619075
Pyruvate Carboxylase Deficiency
Hypertaurinemia, Elevated plasma citrulline, Hepatomegaly, Hyperglutamatemia, Increased serum pyr... ORPHA:3008
Combined Oxidative Phosphorylation Deficiency 41
Cardiomegaly, Anemia, Elevated circulating creatine kinase concentration OMIM:618838
Caroli Syndrome
Liver abscess, Hepatomegaly, Hyperbilirubinemia, Leukocytosis, Thrombocytopenia, Leukopenia, Conj... ORPHA:480520
Familial Thyroid Dyshormonogenesis
Abnormal circulating thyroglobulin concentration, Neonatal hyperbilirubinemia ORPHA:95716
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Hypertyrosinemia, Hyperbilirubinemia, Conjugated hyperbilirubinemia, Hypoalbuminemia, Hypermethio... OMIM:617156
Car T Cell Therapy-Associated Cytokine Release Syndrome
Hyperbilirubinemia, Elevated circulating creatinine concentration ORPHA:542323
Graft Versus Host Disease
Hyperbilirubinemia, Hepatosplenomegaly, Hemophagocytosis ORPHA:39812
Distal Xq28 Microduplication Syndrome
Patent foramen ovale, Neonatal hyperbilirubinemia ORPHA:293939
Intrahepatic Cholestasis Of Pregnancy
Hyperbilirubinemia, Increased serum bile acid concentration ORPHA:69665
Peroxisome Biogenesis Disorder 13A (Zellweger)
Increased circulating very long-chain fatty acid concentration, Hepatomegaly, Conjugated hyperbil... OMIM:614887
Fructose-1,6-Bisphosphatase Deficiency
Hepatomegaly, Hyperalaninemia, Neonatal hyperbilirubinemia, Hyperuricemia ORPHA:348
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Hypokalemia, Leukocytosis, Reticulocytosis, Unconjugated hyperbilirubinemia, Hyponatremia, Thromb... ORPHA:90038
Lathosterolosis
Anisopoikilocytosis, Hyperammonemia, Elevated circulating lathosterol concentration, Hyperbilirub... OMIM:607330
Spastic Paraplegia 29, Autosomal Dominant
Neonatal hyperbilirubinemia OMIM:609727
Attrv122I Amyloidosis
Anemia, Increased circulating NT-proBNP concentration, Cardiac amyloidosis, Restrictive cardiomyo... ORPHA:85451
Deafness-Lymphedema-Leukemia Syndrome
Acute leukemia, Hepatomegaly, Abnormal neutrophil count, Myeloproliferative disorder, Leukocytosi... ORPHA:3226
Parenteral Nutrition-Associated Cholestasis
Hepatomegaly, Hyperlipidemia, Splenomegaly, Conjugated hyperbilirubinemia, Abnormal circulating f... ORPHA:567983
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Neonatal hyperbilirubinemia ORPHA:73272
Caroli Disease
Liver abscess, Hepatomegaly, Leukocytosis, Splenomegaly, Conjugated hyperbilirubinemia ORPHA:53035
Fumarase Deficiency
Hyperbilirubinemia, Polycythemia, Perimembranous ventricular septal defect OMIM:606812
Reynolds Syndrome
Calcinosis, Hepatomegaly, Hyperbilirubinemia, Splenomegaly, Lymphopenia OMIM:613471
Autoimmune Hepatitis
Increased total bilirubin, Splenomegaly ORPHA:2137
Autoinflammatory Disease, Systemic, With Vasculitis
Hepatomegaly, Anemia, Elevated circulating C-reactive protein concentration, Increased B cell cou... OMIM:620376
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Hyperbilirubinemia, Abnormal heart morphology, Thrombocytopenia, Hypertrophic cardiomyopathy ORPHA:464321
Pituitary Hormone Deficiency, Combined, 6
Hyperbilirubinemia OMIM:613986
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Hyperammonemia, Hypoalbuminemia, Conjugated hyperbilirubinemia, Decreased serum zinc OMIM:617093
Immunodeficiency 91 And Hyperinflammation
Hepatomegaly, Hemophagocytosis, Elevated circulating C-reactive protein concentration, Neutrophil... OMIM:619644
X-Linked Intellectual Disability, Nascimento Type
Patent foramen ovale, Mitral stenosis, Tetralogy of Fallot, Neonatal hyperbilirubinemia, Recurren... ORPHA:163956
Liver Disease, Severe Congenital
Left atrial enlargement, Lymphocytosis, Hypoproteinemia, Hyperammonemia, Leukopenia, Splenomegaly... OMIM:619991
Hereditary Cryohydrocytosis With Reduced Stomatin
Stomatocytosis, Hepatosplenomegaly, Conjugated hyperbilirubinemia, Spontaneous hemolytic crises ORPHA:168577
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Anemia, Hypocalcemia, Hyperbilirubinemia, Thrombocytopenia, Atrial septal defect, Ventricular sep... ORPHA:163979
Peroxisome Biogenesis Disorder 5A (Zellweger)
Increased circulating very long-chain fatty acid concentration, Hepatomegaly, Elevated circulatin... OMIM:614866
Wilson Disease
Hepatomegaly, Anemia, Decreased circulating ceruloplasmin concentration, Hypouricemia, Hyperbilir... OMIM:277900
Ogden Syndrome
Left atrial enlargement, Perimembranous ventricular septal defect, Enlarged kidney, Iron deficien... OMIM:300855
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Macrocytic anemia, Poikilocytosis, Elliptocytosis, Anisocytosis, Thrombocytopenia, Abnormal retic... OMIM:300835
Congenital Erythropoietic Porphyria
Increased erythrocyte protoporphyrin concentration, Reduced haptoglobin level, Reticulocytosis, P... ORPHA:79277
Mitchell-Riley Syndrome
Hyperbilirubinemia OMIM:615710
Systemic Mastocytosis With Associated Hematologic Neoplasm
Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Normochromic anemia, Chronic lymphatic l... ORPHA:98849
Lissencephaly Due To Lis1 Mutation
Neonatal hyperbilirubinemia ORPHA:95232
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Liver abscess, Anemia, Elevated circulating C-reactive protein concentration, Neutrophilia, Brain... ORPHA:54251
Primary Biliary Cholangitis
Abnormal circulating lipid concentration, Hepatomegaly, Splenomegaly, Conjugated hyperbilirubinem... ORPHA:186
Yellow Fever
Hyperbilirubinemia, Leukocytosis, Elevated circulating creatine kinase concentration, Neutrophili... ORPHA:99829
Isolated Biliary Atresia
Hepatomegaly, Splenomegaly, Conjugated hyperbilirubinemia ORPHA:30391
Adult-Onset Still Disease
Myocarditis, Abnormal circulating lipid concentration, Hepatomegaly, Anemia, Elevated circulating... ORPHA:829
Hypothyroidism Due To Tsh Receptor Mutations
Increased circulating thyroglobulin concentration, Neonatal hyperbilirubinemia ORPHA:90673
Cranioectodermal Dysplasia 2
Hepatomegaly, Hyperbilirubinemia, Patent foramen ovale, Splenomegaly, Left ventricular hypertroph... OMIM:613610
Paroxysmal Nocturnal Hemoglobinuria
Anemia, Reduced haptoglobin level, Pancytopenia, Abnormal erythrocyte enzyme concentration or act... ORPHA:447
Degcags Syndrome
Hepatomegaly, Anemia, Iron deficiency anemia, Pancytopenia, Dysplastic pulmonary valve, Hyperbili... OMIM:619488
Sickle Cell Disease
Hepatomegaly, Splenic infarction, Leukocytosis, Target cells, Splenomegaly, Cardiomegaly, Increas... OMIM:603903
Psoriasis 14, Pustular
Neutrophilia, Leukocytosis, Elevated circulating C-reactive protein concentration OMIM:614204
Cryptogenic Organizing Pneumonia
Neutrophilia, Leukocytosis, Elevated circulating C-reactive protein concentration ORPHA:1302
Herpes Simplex Virus Encephalitis
Hyponatremia, Neutrophilia, Leukocytosis, Elevated circulating C-reactive protein concentration ORPHA:1930
Hardikar Syndrome
Hepatomegaly, Hyperbilirubinemia, Patent foramen ovale, Thrombocytopenia, Hepatosplenomegaly, Spl... OMIM:301068
Congenital Tricuspid Valve Dysplasia
Tricuspid valve prolapse, Hepatomegaly, Abnormal tricuspid valve annulus morphology, Patent foram... ORPHA:555874
Fructose Intolerance, Hereditary
Bicarbonaturia, Hepatomegaly, Hyperuricemia, Hyperbilirubinemia, Hypophosphatemia OMIM:229600
Isolated Thyroid-Stimulating Hormone Deficiency
Abnormal circulating thyroglobulin concentration, Hypercholesterolemia, Neonatal hyperbilirubinemia ORPHA:90674
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Granuloma, Hyperbilirubinemia ORPHA:562639
Mirizzi Syndrome
Hyperbilirubinemia ORPHA:521219
Senior-Boichis Syndrome
Increased total bilirubin, Hepatosplenomegaly, Anemia ORPHA:84081
Biliary, Renal, Neurologic, And Skeletal Syndrome
Situs inversus totalis, Increased circulating ferritin concentration, Atrioventricular canal defe... OMIM:619534
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Hepatomegaly, Elevated circulating C-reactive protein concentration, Neutrophilia, Splenomegaly, ... OMIM:612852
Immunodeficiency 113 With Autoimmunity And Autoinflammation
Autoimmune hemolytic anemia, Hepatomegaly, Elevated circulating C-reactive protein concentration,... OMIM:620565
Neurooculorenal Syndrome
Dextrocardia, Tetralogy of Fallot with pulmonary stenosis, Patent foramen ovale, Conjugated hyper... OMIM:620305
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Elevated circulating C-reactive protein concentration, Neutrophilia, Leukocytosis, Increased prop... 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 concentration, Hyperbilirubinemia OMIM:218700
Rajab Interstitial Lung Disease With Brain Calcifications 1
Anemia, Pancytopenia, Hypocalcemia, Unconjugated hyperbilirubinemia, Hypoalbuminemia OMIM:613658
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Patent foramen ovale, Unconjugated hyperbilirubinemia, Right ventricular hypertrophy, Aplasia of ... OMIM:620186
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Muscular ventricular septal defect, Hyperbilirubinemia, Patent foramen ovale, Tetralogy of Fallot... OMIM:210710
Sweet Syndrome
Anemia, Acute myeloid leukemia, Elevated circulating C-reactive protein concentration, Chronic ly... ORPHA:3243
Acute Generalized Exanthematous Pustulosis
Eosinophilia, Neutrophilia, Leukocytosis, Neutropenia ORPHA:293173
Familial Mediterranean Fever
Hepatomegaly, Elevated circulating C-reactive protein concentration, Leukocytosis, Pericarditis, ... OMIM:249100
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Conjugated hyperbilirubinemia OMIM:208500
Congenital Disorder Of Glycosylation, Type Iim
Atrial septal defect, Neonatal hyperbilirubinemia OMIM:300896
Pneumocystosis
Abnormal neutrophil count ORPHA:723
Johanson-Blizzard Syndrome
Situs inversus totalis, Atrial septal defect, Hepatomegaly, Hypocalcemia, Increased VLDL choleste... OMIM:243800
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.

There are 1 publication which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
The phosphodiesterase 2A controls lymphatic junctional maturation via cGMP-dependent notch signaling. Developmental cell (December 2023) Pde2atm1c(EUCOMM)Hmgu Pde2atm1a(EUCOMM)Hmgu 38159569

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.

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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