Not currently registered for phenotyping at IMPC

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

Gene Summary

mitogen-activated protein kinase kinase 4
MKK4,  Sek1,  Serk1,  JNKK1

IMPC Data Collections

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

IMPC Phenotype Summary

Not Significant
Not tested


The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Phenotype associated images not available

Human diseases caused by Map2k4 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.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Map2k4 by phenotypic similarity.

Disease Similarity of
Matching phenotypes Source
Diamond-Blackfan Anemia 19
Steroid-responsive anemia, Anemia, Erythroid hypoplasia OMIM:618312
Transient Erythroblastopenia Of Childhood
Anemia, Transient erythroblastopenia OMIM:227050
Diamond-Blackfan Anemia-Like
Steroid-responsive anemia, Pure red cell aplasia OMIM:617911
Anemia, Hypochromic Microcytic, With Iron Overload 1
Hypochromia, Decreased mean corpuscular volume, Anemia, Abnormality of the liver OMIM:206100
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Pallor, Hepatomegaly, Splenomegaly ORPHA:46532
Anemia, Sideroblastic, Pyridoxine-Responsive, Autosomal Recessive
Hypochromia, Decreased mean corpuscular volume, Hepatosplenomegaly, Sideroblastic anemia, Pyridox... OMIM:206000
Fetal Cytomegalovirus Syndrome
Anemia, Hepatomegaly, Splenomegaly ORPHA:294
Hemoglobin D Disease
Decreased mean corpuscular volume, Abnormal hemoglobin, HbS hemoglobin, Splenomegaly, Reduced alp... ORPHA:90039
Diamond-Blackfan Anemia 17
Anemia OMIM:617409
Hemoglobin-Delta locus
Anemia, Imbalanced hemoglobin synthesis OMIM:142000
Retinohepatoendocrinologic Syndrome
Pallor, Degenerative liver disease OMIM:268040
Diamond-Blackfan Anemia 13
Normocytic anemia, Elevated red cell adenosine deaminase level OMIM:615909
Anemia, Sideroblastic, 4
Sideroblastic anemia, Abnormal erythrocyte morphology OMIM:182170
Hemoglobin H Disease
Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin OMIM:613978
Beta-Thalassemia, Dominant Inclusion Body Type
Hepatomegaly, Splenomegaly, Persistence of hemoglobin F, Erythrocyte inclusion bodies, Microcytic... OMIM:603902
Anemia, Sideroblastic, 2, Pyridoxine-Refractory
Hypochromia, Decreased mean corpuscular volume, Anemia, Sideroblastic anemia OMIM:205950
Hemoglobin C-Beta-Thalassemia Syndrome
Anemia, Microcytic anemia, Abnormal hemoglobin, Splenomegaly ORPHA:231242
Heinz Body Anemias
Nonspherocytic hemolytic anemia, Heinz bodies, Heinz body anemia OMIM:140700
Hemoglobin E-Beta-Thalassemia Syndrome
Anemia, Abnormal hemoglobin ORPHA:231249
Reticuloendotheliosis, X-Linked
Anemia, Hepatosplenomegaly, Jaundice OMIM:312500
Diamond-Blackfan Anemia 18
Steroid-responsive anemia, Neutropenia, Erythroid hypoplasia OMIM:618310
Cyanosis, Transient Neonatal
Methemoglobinemia, Hepatomegaly, Anemia, Reticulocytosis, Jaundice OMIM:613977
Anemia, Microcytic anemia, Abnormal hemoglobin ORPHA:231237
X-Linked Sideroblastic Anemia
Pallor, Elevated hepatic transaminase, Splenomegaly ORPHA:75563
Erythroleukemia, Familial, Susceptibility To
Hepatomegaly, Splenomegaly, Anemia, Thrombocytopenia, Leukemia, Acute myeloid leukemia, Erythroid... OMIM:133180
Hyperbilirubinemia, Shunt, Primary
Anemia of inadequate production, Hepatomegaly, Splenomegaly, Reticulocytosis, Jaundice, Erythroid... OMIM:237800
Thanatophoric Dysplasia, Glasgow Variant
Anemia, Hepatosplenomegaly, Neonatal death OMIM:273680
Chromosome 5Q Deletion Syndrome
Anemia of inadequate production, Refractory macrocytic anemia, Erythroid hypoplasia OMIM:153550
Retinitis Pigmentosa 42
Pallor OMIM:612943
Hemoglobin E Disease
Hypochromia, Anemia of inadequate production, Abnormal hemoglobin, Decreased mean corpuscular vol... ORPHA:2133
Anemia, Hypochromic Microcytic, With Iron Overload 2
Pallor, Hepatomegaly, Splenomegaly OMIM:615234
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Anemia, Abnormal hemoglobin, Thrombocytopenia, Splenomegaly ORPHA:231393
Congenital Atransferrinemia
Anemia, Abnormality of the pancreas ORPHA:1195
Retinitis Pigmentosa 81
Pallor OMIM:617871
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin
Anemia of inadequate production, Anisocytosis, Oval macrocytosis, Poikilocytosis OMIM:603529
Acetophenetidin Sensitivity
Hemolytic anemia, Methemoglobinemia OMIM:200300
Acute Peripheral Arterial Occlusion
Supraventricular tachycardia, Absent ankle pulse, Pallor, Myocardial infarction, Abnormality of v... ORPHA:90064
Autoimmune Hemolytic Anemia, Cold Type
Pallor, Splenomegaly ORPHA:228312
Nphp3-Related Meckel-Like Syndrome
Abnormal biliary tract morphology, Abnormality of the pancreas, Abnormal liver parenchyma morphology ORPHA:3032
Evans Syndrome
Petechiae, Jaundice, Bruising susceptibility, Pallor, Syncope, Epistaxis ORPHA:1959
Anemia, Congenital Dyserythropoietic, Type Ib
Anemia of inadequate production, Hepatomegaly, Splenomegaly, Anemia, Anisocytosis, Poikilocytosis... OMIM:615631
Retinitis Pigmentosa 60
Pallor OMIM:613983
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Hepatomegaly, Splenomegaly, Extramedullary hematopoiesis, Leukopenia, Neutropenia, Anemia, Thromb... OMIM:615285
Cholelithiasis, Abnormal hemoglobin, Splenomegaly, Hemolytic anemia, Microcytic anemia, Anemia, J... ORPHA:846
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Splenomegaly, Anemia, Anisocytosis, Poikilocytosis, Congenital hemolytic anemia, Chronic hemolyti... ORPHA:766
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Hypochromia, Decreased mean corpuscular volume, Hepatomegaly, Splenomegaly, Anisocytosis, Hepatos... OMIM:616860
Irida Syndrome
Pallor, Intrahepatic cholestasis ORPHA:209981
Cholelithiasis, Hepatomegaly, Splenomegaly, Pallor, Hepatitis, Skin ulcer, Hypertrophic cardiomyo... ORPHA:848
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Pallor, Hepatomegaly, Jaundice OMIM:613839
Anemia, Sideroblastic, 5
Hypochromic microcytic anemia, Neutropenia, Reduced hematocrit, Anemia, Thrombocytopenia OMIM:619523
Hb Bart'S Hydrops Fetalis
Hepatomegaly, Splenomegaly, Pallor, Pericarditis, Congestive heart failure ORPHA:163596
Hyperinsulinism Due To Ucp2 Deficiency
Hepatomegaly, Diffuse pancreatic islet hyperplasia, Pallor, Palpitations, Tachycardia, Syncope, H... ORPHA:276556
Abnormality of the liver, Hypochromic anemia OMIM:209300
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hepatomegaly, Diffuse pancreatic islet hyperplasia, Pallor, Palpitations, Tachycardia, Syncope, F... ORPHA:276575
Elliptocytosis 1
Pallor, Jaundice, Splenomegaly OMIM:611804
Optic Atrophy 9
Pallor OMIM:616289
Anemia, Congenital Dyserythropoietic, Type Ii
Cholelithiasis, Anemia of inadequate production, Splenomegaly, Reticulocytosis, Jaundice OMIM:224100
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hepatomegaly, Diffuse pancreatic islet hyperplasia, Pallor, Palpitations, Tachycardia, Syncope, H... ORPHA:276580
Pyruvate Kinase Deficiency Of Red Cells
Cholelithiasis, Hepatomegaly, Splenomegaly, Pallor, Cholecystitis, Jaundice, Reduced red cell pyr... OMIM:266200
Dehydrated Hereditary Stomatocytosis 2
Increased mean corpuscular volume, Hepatomegaly, Splenomegaly, Anisopoikilocytosis, Acanthocytosi... OMIM:616689
Hepatomegaly, Splenomegaly, Abnormal bleeding, Pallor, Elevated hepatic transaminase, Skin ulcer ORPHA:507
Anemia ORPHA:655
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Anemia, Leukocytosis OMIM:619398
Erythrocytosis, Familial, 8
Nonspherocytic hemolytic anemia, Cholelithiasis, Splenomegaly, Polycythemia, Normocytic anemia, C... OMIM:222800
Anemia, Sideroblastic, 1
Anemia of inadequate production, Sideroblastic anemia, Hypochromic microcytic anemia, Macrocytic ... OMIM:300751
Methylmalonic Acidemia With Homocystinuria, Type Cbld
Pallor ORPHA:79283
6-Phosphogluconolactonase Deficiency
Hemolytic anemia OMIM:172150
Adenylate Kinase Deficiency, Hemolytic Anemia Due To
Hemolytic anemia OMIM:612631
Peripheral Cone Dystrophy
Pallor OMIM:609021
Citrullinemia, Type Ii, Adult-Onset
Pancreatitis, Hepatocellular carcinoma, Elevated gamma-glutamyltransferase level, Elevated circul... OMIM:603471
Spherocytosis, Type 5
Spherocytosis, Abnormal leukocyte count, Splenomegaly, Hemolytic anemia, Abnormal platelet count,... OMIM:612690
Primary Myelofibrosis
Petechiae, Hepatomegaly, Splenomegaly, Abnormal bleeding, Pallor, Hepatosplenomegaly, Increased c... ORPHA:824
Hepatoportal Sclerosis
Intrahepatic portal vein sclerosis, Abnormality of the hepatic vasculature, Periportal fibrosis, ... ORPHA:64743
Cold Agglutinin Disease
Pallor, Hepatomegaly, Splenomegaly ORPHA:56425
Cone-Rod Dystrophy 11
Pallor OMIM:610381
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Cholelithiasis, Hepatomegaly, Splenomegaly, Pallor, Hepatitis, Jaundice OMIM:194380
Hemophagocytic Lymphohistiocytosis, Familial, 3
Anemia, Hepatosplenomegaly, Granulocytopenia, Hemophagocytosis OMIM:608898
Overhydrated Hereditary Stomatocytosis
Splenomegaly, Anisocytosis, Abnormal mean corpuscular volume, Hemolytic anemia, Decreased mean co... ORPHA:3203
Hyperinsulinism Due To Hnf1A Deficiency
Hepatomegaly, Pallor, Palpitations, Tachycardia, Syncope ORPHA:324575
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Pallor, Tachycardia, Pancreatic islet-cell hyperplasia ORPHA:276608
Eosinophilia, Familial
Anemia, Eosinophilia, Thrombocytopenia, Leukocytosis OMIM:131400
Beta-Thalassemia Intermedia
Cholelithiasis, Decreased liver function, High-output congestive heart failure, Hepatomegaly, Spl... ORPHA:231222
Elliptocytosis 3
Decreased mean corpuscular volume, Elliptocytosis, Chronic hemolytic anemia, Pyropoikilocytosis, ... OMIM:617948
Anemia, Congenital Dyserythropoietic, Type Iiib, Autosomal Recessive
Macrocytic anemia, Macrocytic dyserythropoietic anemia OMIM:619789
Congenital Dyserythropoietic Anemia Type Iii
Melena, Post-partum hemorrhage, Pallor, Oral cavity bleeding, Elevated hepatic transaminase, Ging... ORPHA:98870
Isobutyryl-Coa Dehydrogenase Deficiency
Anemia OMIM:611283
Acute Erythroid Leukemia
Pancytopenia, Leukopenia, Anemia, Erythroid hypoplasia ORPHA:318
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Nonspherocytic hemolytic anemia, Cholelithiasis, Splenomegaly, Normocytic anemia, Cholecystitis, ... OMIM:235700
Retinitis Pigmentosa 70
Pallor OMIM:615922
Deafness-Lymphedema-Leukemia Syndrome
Hepatomegaly, Bruising susceptibility, Splenomegaly, Pallor, Intracranial hemorrhage, Prolonged b... ORPHA:3226
Pallor, Purpura, Splenomegaly OMIM:254450
Auditory Neuropathy And Optic Atrophy
Pallor OMIM:617717
Acute Myelomonocytic Leukemia
Abnormal bleeding, Pallor ORPHA:517
Ovalocytosis, Hereditary Hemolytic, With Defective Erythropoiesis
Hemolytic anemia, Anemia of inadequate production, Elliptocytosis OMIM:166910
Drug-Induced Autoimmune Hemolytic Anemia
Pallor, Tachycardia, Congestive heart failure, Splenomegaly ORPHA:90037
Refractory Anemia
Anemia of inadequate production, Normocytic anemia, Erythroid hypoplasia, Macrocytic anemia, Neut... ORPHA:98826
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Anemia of inadequate production, Hypochromic anemia, Anisocytosis, Poikilocytosis, Macrothrombocy... ORPHA:67044
Autoimmune Hemolytic Anemia, Warm Type
Splenomegaly, Pallor, Tachycardia, Jaundice, Congestive heart failure ORPHA:90033
American Trypanosomiasis
Hepatomegaly, Splenomegaly, Pallor, Arrhythmia, Myocarditis, Cardiomyopathy, Congestive heart fai... ORPHA:3386
Anemia, Neutropenia, Splenomegaly OMIM:602079
Hyperinsulinism Due To Hnf4A Deficiency
Hepatomegaly, Elevated circulating alkaline phosphatase concentration, Increased hepatic glycogen... ORPHA:263455
Optic Atrophy 1
Pallor OMIM:165500
Diamond-Blackfan Anemia 16
Anemia OMIM:617408
Benign Paroxysmal Torticollis Of Infancy
Pallor ORPHA:71518
Dermatitis, Atopic
Pallor, Dry skin, Facial erythema OMIM:603165
Senior-Loken Syndrome 8
Pallor, Pancreatic cysts, Intrahepatic bile duct dilatation, Hepatic cysts OMIM:616307
Thrombocytopenia, Anemia, And Myelofibrosis
Anemia, Thrombocytopenia, Anisopoikilocytosis, Splenomegaly OMIM:617441
Breath-Holding Spells
Pallor OMIM:607578
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Acute monocytic leukemia, Eosinophilia, Monocytosis, Congenital agranulocytosis, Thrombocytosis, ... OMIM:202700
Hemochromatosis, Type 2B
Hepatomegaly, Splenomegaly, Cirrhosis, Elevated hepatic transaminase, Hepatic fibrosis, Anemia OMIM:613313
Acquired Idiopathic Sideroblastic Anemia
Anemia of inadequate production, Granulocytopenia, Neutropenia, Hepatomegaly, Leukocytosis, Splen... ORPHA:75564
Retinitis Pigmentosa 27
Pallor OMIM:613750
Idiopathic Pulmonary Hemosiderosis
Hepatomegaly, Pallor, Hepatosplenomegaly, Heart murmur, Diffuse alveolar hemorrhage ORPHA:99931
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Abnormal reticulocyte morphology, Anisocytosis, Macrocytic anemia, Poikilocytosis, Increased hemo... OMIM:300835
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Pallor ORPHA:2786
Retinitis Pigmentosa 73
Pallor OMIM:616544
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Increased mean corpuscular volume, Neutropenia, Pancytopenia, Anemia, Thrombocytopenia, Acute mye... OMIM:619041
Autoimmune Hemolytic Anemia
Pallor, Arrhythmia, Congestive heart failure, Splenomegaly ORPHA:98375
Hemolytic anemia, Reticulocytosis, Stomatocytosis, Splenomegaly OMIM:185020
Hemolytic Poikilocytic Anemia Due To Reduced Ankyrin Binding Sites
Nonspherocytic hemolytic anemia, Poikilocytosis, Elliptocytosis, Heinz body anemia OMIM:141700
Optic Atrophy 7 With Or Without Auditory Neuropathy
Pallor, Hypertrophic cardiomyopathy OMIM:612989
Diamond-Blackfan Anemia 3
Increased mean corpuscular volume, Persistence of hemoglobin F, Macrocytic anemia, Reticulocytope... OMIM:610629
Bleeding Disorder, Platelet-Type, 16
Macrothrombocytopenia, Giant platelets, Platelet anisocytosis, Anemia, Thrombocytopenia OMIM:187800
Immunodeficiency 69
Leukocytosis, Splenomegaly, Hepatosplenomegaly, Thrombocytosis, Pancytopenia, Anemia OMIM:618963
Anemia, Congenital Dyserythropoietic, Type Ia
Anemia of inadequate production, Hepatomegaly, Prolonged neonatal jaundice, Splenomegaly, Anisocy... OMIM:224120
Spherocytosis, Type 2
Spherocytosis, Splenomegaly, Acanthocytosis, Hemolytic anemia, Reticulocytosis, Jaundice OMIM:616649
Pyropoikilocytosis, Hereditary
Hemolytic anemia, Pyropoikilocytosis, Elliptocytosis, Microspherocytosis OMIM:266140
Anemia, Congenital Dyserythropoietic, Type Iv
Circulating nucleated red blood cells, Anemia of inadequate production, Hepatomegaly, Splenomegal... OMIM:613673
Solute carrier family 4 (anion exchanger), member 1
Spherocytosis, Splenomegaly, Acanthocytosis, Hemolytic anemia, Elliptocytosis, Stomatocytosis, Re... OMIM:109270
Dehydrated Hereditary Stomatocytosis
Increased mean corpuscular volume, Anemia of inadequate production, Nonspherocytic hemolytic anem... ORPHA:3202
Diamond-Blackfan Anemia 9
Anemia OMIM:613308
Overhydrated Hereditary Stomatocytosis
Hepatomegaly, Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis, Jaundice OMIM:185000
Diamond-Blackfan Anemia 12
Elevated red cell adenosine deaminase level, Normochromic anemia, Reticulocytopenia, Macrocytic a... OMIM:615550
Leber Congenital Amaurosis 14
Pallor OMIM:613341
Hemolytic Anemia, Congenital, X-Linked
Hemolytic anemia, Jaundice OMIM:301015
Spherocytosis, Type 1
Cholelithiasis, Spherocytosis, Splenomegaly, Hemolytic anemia, Reticulocytosis, Jaundice OMIM:182900
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Pallor, Hepatosplenomegaly OMIM:611590
Bone Marrow Failure Syndrome 2
Anemia, Leukopenia, Thrombocytopenia OMIM:615715
Primary Lateral Sclerosis, Juvenile
Pallor OMIM:606353
Letterer-Siwe Disease
Pallor, Hepatosplenomegaly, Jaundice OMIM:246400
Diamond-Blackfan Anemia 20
Anemia, Erythroid hypoplasia OMIM:618313
Hereditary Spherocytosis
Cholelithiasis, Hepatomegaly, Splenomegaly, Restrictive cardiomyopathy, Pallor, Skin ulcer, Jaundice ORPHA:822
Spherocytosis, Type 4
Spherocytosis, Splenomegaly, Hemolytic anemia, Reticulocytosis, Jaundice OMIM:612653
Thiamine-Responsive Megaloblastic Anemia Syndrome
Pallor, Cardiac arrest, Paroxysmal atrial tachycardia, Congestive heart failure ORPHA:49827
Fructose-1,6-Bisphosphatase Deficiency
Hepatomegaly, Abnormal enzyme/coenzyme activity, Pallor, Tachycardia, Elevated hepatic transamina... ORPHA:348
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hepatomegaly, Hemophagocytosis, Splenomegaly, Neutropenia, Anemia, Thrombocytopenia, Jaundice OMIM:603552
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Pallor, Elevated hepatic transaminase, Hepatosplenomegaly, Elevated hepatic iron concentration ORPHA:300298
Dominant Beta-Thalassemia
High-output congestive heart failure, Splenomegaly, Pallor, Cirrhosis, Chronic hepatitis, Hepatoc... ORPHA:231226
Myoclonus, Intractable, Neonatal
Pallor OMIM:617235
Hydrops Fetalis, Nonimmune
Anemia OMIM:236750
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To
Hemolytic anemia, Reticulocytosis, Erythroid hyperplasia, Stomatocytosis OMIM:301083
Spontaneous Periodic Hypothermia
Pallor, Arrhythmia ORPHA:29822
Bleeding Disorder, Platelet-Type, 19
Anemia, Macrothrombocytopenia OMIM:616176
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Pallor, Jaundice, Splenomegaly, Prolonged neonatal jaundice OMIM:300908
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency
Pallor, Hepatomegaly OMIM:246450
Non-Functioning Paraganglioma
Hypertension associated with pheochromocytoma, Positive regitine blocking test, Cerebral hemorrha... ORPHA:94080
Infantile Liver Failure Syndrome 1
Hepatomegaly, Acute hepatic failure, Macrocytic anemia, Elevated hepatic transaminase, Anemia, He... OMIM:615438
Familial Focal Epilepsy With Variable Foci
Pallor ORPHA:98820
Waldenström Macroglobulinemia
Hepatomegaly, Splenomegaly, Pallor, Retinal hemorrhage, Vasculitis, Gingival bleeding, Purpura, G... ORPHA:33226
Porphyria Cutanea Tarda
Viral hepatitis, Periportal fibrosis, Abnormal enzyme/coenzyme activity, Chronic hepatitis, Hepat... ORPHA:101330
Fanconi Anemia, Complementation Group T
Anemia, Thrombocytopenia, Pancytopenia OMIM:616435
Beta-Thalassemia Major
High-output congestive heart failure, Hepatomegaly, Splenomegaly, Pallor, Cirrhosis, Hepatospleno... ORPHA:231214
Fumarase Deficiency
Pallor, Cholestasis, Hepatic failure OMIM:606812
Osteopetrosis, Autosomal Recessive 8
Anemia, Thrombocytopenia, Hepatomegaly, Splenomegaly OMIM:615085
Spherocytosis, Type 3
Hemolytic anemia, Spherocytosis OMIM:270970
Cyclic Vomiting Syndrome
Pallor, Cardiomyopathy OMIM:500007
Sepsis In Premature Infants
Decreased liver function, Petechiae, Hepatomegaly, Splenomegaly, Abnormal bleeding, Pallor, Tachy... ORPHA:90051
Rh-Null, Regulator Type
Hemolytic anemia, Jaundice, Stomatocytosis OMIM:268150
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Pallor, Elevated hepatic transaminase, Hepatosplenomegaly, Hepatomegaly ORPHA:331206
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2
Pallor OMIM:608423
Formiminoglutamic Aciduria
Megaloblastic anemia, Anemia ORPHA:51208
Ovalocytosis, Southeast Asian
Hemolytic anemia, Elliptocytosis OMIM:166900
Lysosomal Acid Lipase Deficiency
Hepatomegaly, Periportal fibrosis, Splenomegaly, Hepatic failure, Cirrhosis, Hepatosplenomegaly, ... OMIM:278000
Thrombocytopenia 5
Anemia, Thrombocytopenia, Neutropenia OMIM:616216
3-Hydroxy-3-Methylglutaric Aciduria
Cardiac arrest, Lipid accumulation in hepatocytes, Hepatomegaly, Pallor, Hypotension, Acute pancr... ORPHA:20
Osteopetrosis, Autosomal Recessive 4
Hepatomegaly, Splenomegaly, Hepatosplenomegaly, Reticulocytosis, Anemia, Thrombocytopenia OMIM:611490
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Anemia of inadequate production, Exocrine pancreatic insufficiency, Hepatomegaly, Splenomegaly, A... OMIM:612714
Retinitis Pigmentosa 51
Pallor OMIM:613464
Elliptocytosis 2
Hemolytic anemia, Reticulocytosis, Elliptocytosis OMIM:130600
Rheumatic Fever
Pallor, Erythema, Arrhythmia, Myocarditis, Pericarditis, Epistaxis ORPHA:3099
Dohle Bodies And Leukemia
Leukocyte inclusion bodies, Anemia, Acute myeloid leukemia OMIM:223350
Pearson Marrow-Pancreas Syndrome
Exocrine pancreatic insufficiency, Hepatomegaly, Hepatic failure, Pallor, Pancreatic fibrosis, Er... OMIM:557000
Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia
Anemia of inadequate production, Congenital thrombocytopenia, Acanthocytosis, Poikilocytosis OMIM:300367
Medullary Thyroid Carcinoma
Abnormal liver parenchyma morphology ORPHA:1332
Systemic Mastocytosis With Associated Hematologic Neoplasm
Hepatomegaly, Splenomegaly, Pallor, Tachycardia, Hypotension, Syncope, Elevated total serum tryptase ORPHA:98849
Anemia, Congenital Dyserythropoietic, Type Iiia
Anemia of inadequate production, Macrocytic anemia, Jaundice, Congenital hypoplastic anemia OMIM:105600
Beta-Ketothiolase Deficiency
Pallor, Hypertension, Hepatomegaly, Hypotension ORPHA:134
Myopathic Ehlers-Danlos Syndrome
Pallor ORPHA:536516
Mixed-Type Autoimmune Hemolytic Anemia
Pallor, Tachycardia ORPHA:90036
Histiocytoid Cardiomyopathy
Wolff-Parkinson-White syndrome, Supraventricular tachycardia, Hepatomegaly, Pallor, Tachycardia, ... ORPHA:137675
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1
Pallor OMIM:600462
Rh Deficiency Syndrome
Hypochromia, Spherocytosis, Anisocytosis, Hepatosplenomegaly, Macrocytic anemia, Hemolytic anemia... ORPHA:71275
Idiopathic Hypereosinophilic Syndrome
Supraventricular arrhythmia, Pancreatitis, Vasculitis in the skin, Splenomegaly, Raynaud phenomen... ORPHA:3260
Bone Marrow Failure Syndrome 6
Increased mean corpuscular volume, Lymphopenia, Persistence of hemoglobin F, Neutropenia, Anemia OMIM:618849
Sporadic Pheochromocytoma/Secreting Paraganglioma
Hypertension associated with pheochromocytoma, Positive regitine blocking test, Cerebral hemorrha... ORPHA:276621
Dravet Syndrome
Pallor ORPHA:33069
Omenn Syndrome
Hepatomegaly, Splenomegaly, Eosinophilia, Hypoplasia of the thymus, Severe B lymphocytopenia, B l... OMIM:603554
Orthostatic Hypotension 2
Anemia OMIM:618182
Kcnq2-Related Epileptic Encephalopathy
Facial erythema, Pallor ORPHA:439218
Retinitis Pigmentosa 75
Pallor OMIM:617023
Glycogen Storage Disease Xii
Nonspherocytic hemolytic anemia, Cholelithiasis, Hepatomegaly, Splenomegaly, Normocytic anemia, C... OMIM:611881
Gamma-Heavy Chain Disease
Hepatomegaly, Splenomegaly, Autoimmune thrombocytopenia, Abnormal lymphocyte morphology, Autoimmu... ORPHA:100026
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency
Pallor ORPHA:13
Idiopathic Aplastic Anemia
Pancytopenia, Neutropenia, Anemia, Thrombocytopenia, Reticulocytopenia ORPHA:88
Refractory Anemia With Excess Blasts
Abnormal bleeding, Palpitations, Anemic pallor, Retinal hemorrhage ORPHA:86839
Fanconi Anemia, Complementation Group V
Anemia, Thrombocytopenia, Neutropenia OMIM:617243
Von Hippel-Lindau Disease
Neoplasm of the pancreas, Abnormal left ventricular function, Pallor, Palpitations, Arrhythmia, M... ORPHA:892
Hereditary Pheochromocytoma-Paraganglioma
Hypertension associated with pheochromocytoma, Positive regitine blocking test, Cerebral hemorrha... ORPHA:29072
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease
Exocrine pancreatic insufficiency, Hepatomegaly, Aplasia/Hypoplasia of the pancreas, Hyperechogen... ORPHA:456312
Fanconi Anemia, Complementation Group I
Pallor OMIM:609053
Retinitis Pigmentosa And Erythrocytic Microcytosis
Decreased mean corpuscular volume, Anisocytosis, Poikilocytosis, Elliptocytosis, Anemia OMIM:616959
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Pancytopenia, Anemia, Hemophagocytosis, Splenomegaly OMIM:618398
Sitosterolemia 1
Episodic hemolytic anemia, Splenomegaly, Reticulocytosis, Chronic hemolytic anemia, Giant platele... OMIM:210250
Aregenerative Anemia
Abnormal bleeding, Pallor, Bruising susceptibility ORPHA:101096
Cone-Rod Dystrophy 8
Pallor OMIM:605549
Tay-Sachs Disease
Pallor OMIM:272800
Imerslund-Gräsbeck Syndrome
Abnormal bleeding, Tachycardia, Pallor ORPHA:35858
Rare Circulatory System Disease
Intermittent claudication, Pallor ORPHA:98028
Interstitial Lung And Liver Disease
Hepatomegaly, Hepatic failure, Cirrhosis, Elevated circulating aspartate aminotransferase concent... OMIM:615486
Generalized Juvenile Polyposis/Juvenile Polyposis Coli
Abnormal bleeding, Anemic pallor, Hematochezia ORPHA:329971
Developmental And Epileptic Encephalopathy 50
Anemia, Anisopoikilocytosis, Acanthocytosis, Schistocytosis OMIM:616457
Autosomal Recessive Malignant Osteopetrosis
Hepatomegaly, Bruising susceptibility, Splenomegaly, Pallor, Pulmonary arterial hypertension ORPHA:667
Telangiectasia, Hereditary Hemorrhagic, Type 2
Melena, Subarachnoid hemorrhage, Hematochezia, Lip telangiectasia, Facial telangiectasia, Fingerp... OMIM:600376
Multiple Endocrine Neoplasia Type 2
Hypertension associated with pheochromocytoma, Neoplasm of the liver, Pallor, Palpitations, Hyper... ORPHA:653
Childhood Absence Epilepsy
Pallor ORPHA:64280
Plummer-Vinson Syndrome
Pallor ORPHA:54028
Sheehan Syndrome
Pallor, Orthostatic hypotension, Palpitations, Dry skin, Bradycardia ORPHA:91355
Myopathy, Mitochondrial, And Ataxia
Pallor OMIM:617675
Pituitary Apoplexy
Pallor, Hypertension, Hypotension ORPHA:95613
Telangiectasia, Hereditary Hemorrhagic, Type 1
Melena, Telangiectasia of the skin, Hemothorax, Pulmonary hemorrhage, Subarachnoid hemorrhage, He... OMIM:187300
Non-Functioning Pituitary Adenoma
Pallor, Hypotension ORPHA:91349
Hereditary Folate Malabsorption
Pallor ORPHA:90045
Pallor, Orthostatic hypotension ORPHA:95512
Alternating Hemiplegia Of Childhood
Abnormal T-wave, Pallor, Arrhythmia, Cardiac conduction abnormality, Cardiomyopathy ORPHA:2131
Abnormal liver lobulation OMIM:608022
Pallor, Orthostatic hypotension ORPHA:95513
Pallor, Hypotension ORPHA:2965
Degcags Syndrome
Hepatomegaly, Pulmonic stenosis, Pallor, Abnormal spleen morphology, Hepatosplenomegaly, Tachycar... OMIM:619488
Incontinentia Pigmenti
Pallor, Erythema, Retinal hemorrhage OMIM:308300
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome
Hepatic arteriovenous malformation, Mitral regurgitation, Hematochezia, Telangiectasia, Epistaxis OMIM:175050
Fanconi Anemia, Complementation Group D2
Annular pancreas, Anemic pallor, Patent ductus arteriosus, Bruising susceptibility OMIM:227646
Infection-Related Hemolytic Uremic Syndrome
Pancreatitis, Pallor, Myocarditis, Hypertensive crisis, Hypertension ORPHA:544482
Tsh-Secreting Pituitary Adenoma
Supraventricular arrhythmia, Pallor, Palpitations, Ventricular arrhythmia, Hypotension, Hypertens... ORPHA:91347
Mosaic Trisomy 9
Abnormal liver lobulation, Patent ductus arteriosus, Asplenia ORPHA:99776
Diamond-Blackfan Anemia 1
Tricuspid stenosis, Pallor, Congestive heart failure, Elevated red cell adenosine deaminase level OMIM:105650
Liver Disease, Severe Congenital
Exocrine pancreatic insufficiency, Abnormal left ventricular function, Hepatomegaly, Hepatic fail... OMIM:619991
Fanconi Anemia, Complementation Group E
Anemic pallor, Bruising susceptibility OMIM:600901
Fanconi Anemia, Complementation Group A
Anemic pallor, Bruising susceptibility OMIM:227650
Congenital Total Pulmonary Venous Return Anomaly
Hepatomegaly, Tricuspid regurgitation, Pallor, Mitral regurgitation, Right ventricular failure, T... ORPHA:99125
Fanconi Anemia, Complementation Group C
Anemic pallor, Bruising susceptibility OMIM:227645
Esophageal Atresia
Pallor ORPHA:1199
Blackfan-Diamond Anemia
Pallor, Elevated red cell adenosine deaminase level ORPHA:124
Juvenile Polyposis Syndrome
Neoplasm of the pancreas, Abnormal onset of bleeding, Hepatic arteriovenous malformation, Mucosal... ORPHA:2929
Decreased liver function, Hepatomegaly, Hepatic failure, Arrhythmia, Ventricular tachycardia, Por... ORPHA:797
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Pallor OMIM:253280
Goodpasture Syndrome
Pallor, Pulmonary hemorrhage OMIM:233450
Angina pectoris, Intracranial hemorrhage, Elevated hepatic transaminase, Hepatic fibrosis, Perica... ORPHA:79318


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 Map2k4

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 Map2k4.

No publications found that use IMPC mice or data for Map2k4.

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MGI Allele Allele Type Produced
Map2k4tm2a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Map2k4tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Map2k4tm2e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells

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