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,  JNKK1,  Serk1,  Sek1

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
Erythroid hypoplasia, Anemia, Steroid-responsive anemia OMIM:618312
Transient Erythroblastopenia Of Childhood
Transient erythroblastopenia, Anemia OMIM:227050
Diamond-Blackfan Anemia-Like
Pure red cell aplasia, Steroid-responsive anemia OMIM:617911
Anemia, Hypochromic Microcytic, With Iron Overload 1
Hypochromia, Decreased mean corpuscular volume, Abnormality of the liver, Anemia OMIM:206100
Anemia, Sideroblastic, Pyridoxine-Responsive, Autosomal Recessive
Hypochromia, Pyridoxine-responsive sideroblastic anemia, Sideroblastic anemia, Decreased mean cor... OMIM:206000
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Hepatomegaly, Pallor, Splenomegaly ORPHA:46532
Diamond-Blackfan Anemia 17
Anemia OMIM:617409
Hemoglobin-Delta locus
Imbalanced hemoglobin synthesis, Anemia OMIM:142000
Fetal Cytomegalovirus Syndrome
Hepatomegaly, Anemia, Splenomegaly ORPHA:294
Retinohepatoendocrinologic Syndrome
Degenerative liver disease, Pallor OMIM:268040
Diamond-Blackfan Anemia 13
Elevated red cell adenosine deaminase level, Normocytic anemia OMIM:615909
Anemia, Sideroblastic, 2, Pyridoxine-Refractory
Hypochromia, Decreased mean corpuscular volume, Anemia OMIM:205950
Anemia, Sideroblastic, 4
Sideroblastic anemia, Abnormal erythrocyte morphology OMIM:182170
Hemoglobin H Disease
Hemolytic anemia, Hepatomegaly, HbH hemoglobin, Splenomegaly, Reduced alpha/beta synthesis ratio OMIM:613978
Reticuloendotheliosis, X-Linked
Jaundice, Hepatosplenomegaly, Anemia OMIM:312500
Heinz Body Anemias
Nonspherocytic hemolytic anemia, Heinz body anemia, Heinz bodies OMIM:140700
Hemoglobin C-Beta-Thalassemia Syndrome
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231242
Hemoglobin E-Beta-Thalassemia Syndrome
Abnormal hemoglobin, Anemia ORPHA:231249
Diamond-Blackfan Anemia 18
Erythroid hypoplasia, Neutropenia, Steroid-responsive anemia OMIM:618310
Cyanosis, Transient Neonatal
Reticulocytosis, Hepatomegaly, Jaundice, Anemia, Methemoglobinemia OMIM:613977
Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231237
Thanatophoric Dysplasia, Glasgow Variant
Neonatal death, Hepatosplenomegaly, Anemia OMIM:273680
X-Linked Sideroblastic Anemia
Pallor, Elevated hepatic transaminase, Splenomegaly ORPHA:75563
Erythroleukemia, Familial, Susceptibility To
Erythroid hyperplasia, Thrombocytopenia, Acute myeloid leukemia, Hepatomegaly, Anemia, Splenomega... OMIM:133180
Hyperbilirubinemia, Shunt, Primary
Reticulocytosis, Erythroid hyperplasia, Hepatomegaly, Jaundice, Anemia of inadequate production, ... OMIM:237800
Chromosome 5Q Deletion Syndrome
Erythroid hypoplasia, Anemia of inadequate production, Refractory macrocytic anemia OMIM:153550
Retinitis Pigmentosa 42
Pallor OMIM:612943
Hemolytic Anemia, Congenital, X-Linked
Jaundice, Hemolytic anemia OMIM:301015
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hepatomegaly, Pallor, Splenomegaly OMIM:615234
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Thrombocytopenia, Abnormal hemoglobin, Anemia, Splenomegaly ORPHA:231393
Congenital Atransferrinemia
Abnormality of the pancreas, Anemia ORPHA:1195
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin
Oval macrocytosis, Anisocytosis, Poikilocytosis, Anemia of inadequate production OMIM:603529
Retinitis Pigmentosa 81
Pallor OMIM:617871
Apolipoprotein A-I Deficiency
Abnormality of the liver, Anemia, Splenomegaly ORPHA:425
Acetophenetidin Sensitivity
Methemoglobinemia, Hemolytic anemia OMIM:200300
Acute Peripheral Arterial Occlusion
Abnormal capillary physiology, Myocardial infarction, Supraventricular tachycardia, Abnormality o... ORPHA:90064
Anemia, Congenital Dyserythropoietic, Type Iv
Reticulocytosis, Erythroid hyperplasia, Hepatomegaly, Anemia of inadequate production, Anemia, Sp... OMIM:613673
Autoimmune Hemolytic Anemia, Cold Type
Pallor, Splenomegaly ORPHA:228312
Anemia, Congenital Dyserythropoietic, Type Ib
Reticulocytosis, Erythroid hyperplasia, Hepatomegaly, Anisocytosis, Jaundice, Splenomegaly, Anemi... OMIM:615631
Evans Syndrome
Epistaxis, Jaundice, Petechiae, Pallor, Bruising susceptibility, Syncope ORPHA:1959
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Extramedullary hematopoiesis, Neutropenia, Thrombocytopenia, Hepatomegaly, Leukopenia, Splenomega... OMIM:615285
Retinitis Pigmentosa 60
Pallor OMIM:613983
Hemolytic anemia, Microcytic anemia, Cholelithiasis, Jaundice, Hypersplenism, Splenomegaly, Anemi... ORPHA:846
Nphp3-Related Meckel-Like Syndrome
Abnormality of the pancreas, Abnormal biliary tract morphology, Abnormal liver parenchyma morphology ORPHA:3032
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Hypochromia, Cirrhosis, Elevated hepatic transaminase, Erythroid hyperplasia, Hepatomegaly, Aniso... OMIM:616860
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Chronic hemolytic anemia, Reticulocytosis, Abnormal erythrocyte morphology, Congenital hemolytic ... ORPHA:766
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Thrombocytopenia, Hepatosplenomegaly, Anemia OMIM:610539
Anemia, Sideroblastic, 1
Sideroblastic anemia, Hypochromic microcytic anemia, Macrocytic anemia, Anemia of inadequate prod... OMIM:300751
Cholelithiasis, Hepatomegaly, Hepatitis, Splenomegaly, Pallor, Skin ulcer, Hypertrophic cardiomyo... ORPHA:848
Irida Syndrome
Intrahepatic cholestasis, Pallor ORPHA:209981
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Hepatomegaly, Jaundice, Pallor OMIM:613839
Pancytopenia And Occlusive Vascular Disease
Thrombocytopenia, Leukopenia, Pancytopenia, Anemia OMIM:167850
Hyperinsulinism Due To Ucp2 Deficiency
Palpitations, Diffuse pancreatic islet hyperplasia, Syncope, Hepatomegaly, Tachycardia, Pallor, H... ORPHA:276556
Hypochromic anemia, Abnormality of the liver OMIM:209300
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Palpitations, Diffuse pancreatic islet hyperplasia, Syncope, Hepatomegaly, Tachycardia, Focal pan... ORPHA:276575
Senior-Loken Syndrome 8
Hepatic cysts, Pancreatic cysts, Pallor OMIM:616307
Hb Bart'S Hydrops Fetalis
Pericarditis, Hepatomegaly, Congestive heart failure, Splenomegaly, Pallor ORPHA:163596
Elliptocytosis 1
Jaundice, Pallor, Splenomegaly OMIM:611804
Optic Atrophy 9
Pallor OMIM:616289
Anemia, Congenital Dyserythropoietic, Type Ii
Reticulocytosis, Cholelithiasis, Jaundice, Anemia of inadequate production, Splenomegaly OMIM:224100
Dehydrated Hereditary Stomatocytosis 2
Hemolytic anemia, Increased mean corpuscular hemoglobin concentration, Reticulocytosis, Anisopoik... OMIM:616689
Anemia, Congenital Dyserythropoietic, Type Ia
Macrocytic dyserythropoietic anemia, Reticulocytosis, Erythroid hyperplasia, Prolonged neonatal j... OMIM:224120
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Palpitations, Diffuse pancreatic islet hyperplasia, Syncope, Hepatomegaly, Tachycardia, Pallor, H... ORPHA:276580
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Leukocytosis, Anemia OMIM:619398
Anemia ORPHA:655
Abnormal bleeding, Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Pallor, Skin ulcer ORPHA:507
Methylmalonic Acidemia With Homocystinuria, Type Cbld
Pallor ORPHA:79283
Hemophagocytic Lymphohistiocytosis, Familial, 3
Hemophagocytosis, Hepatosplenomegaly, Granulocytopenia, Anemia OMIM:608898
6-Phosphogluconolactonase Deficiency
Hemolytic anemia OMIM:172150
Adenylate Kinase Deficiency, Hemolytic Anemia Due To
Hemolytic anemia OMIM:612631
Peripheral Cone Dystrophy
Pallor OMIM:609021
Erythrocytosis, Familial, 8
Nonspherocytic hemolytic anemia, Cholecystitis, Polycythemia, Cholelithiasis, Normocytic anemia, ... OMIM:222800
Cone-Rod Dystrophy 11
Pallor OMIM:610381
Overhydrated Hereditary Stomatocytosis
Hemolytic anemia, Decreased mean corpuscular hemoglobin concentration, Stomatocytosis, Reticulocy... ORPHA:3203
Primary Myelofibrosis
Abnormal bleeding, Purpura, Increased circulating lactate dehydrogenase concentration, Hepatomega... ORPHA:824
Cold Agglutinin Disease
Hepatomegaly, Pallor, Splenomegaly ORPHA:56425
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Cholelithiasis, Hepatomegaly, Jaundice, Hepatitis, Splenomegaly, Pallor OMIM:194380
Eosinophilia, Familial
Leukocytosis, Thrombocytopenia, Eosinophilia, Anemia OMIM:131400
Hyperinsulinism Due To Hnf1A Deficiency
Palpitations, Hepatomegaly, Tachycardia, Pallor, Syncope ORPHA:324575
Beta-Thalassemia Intermedia
Cirrhosis, Hepatocellular carcinoma, Cholelithiasis, Hepatomegaly, Jaundice, Decreased liver func... ORPHA:231222
Elliptocytosis 3
Chronic hemolytic anemia, Elliptocytosis, Intermittent jaundice, Pyropoikilocytosis, Decreased me... OMIM:617948
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Tachycardia, Pancreatic islet-cell hyperplasia, Pallor ORPHA:276608
Acute Erythroid Leukemia
Pancytopenia, Erythroid hypoplasia, Leukopenia, Anemia ORPHA:318
Spherocytosis, Type 5
Hemolytic anemia, Reticulocytosis, Jaundice, Splenomegaly, Spherocytosis OMIM:612690
Deafness-Lymphedema-Leukemia Syndrome
Prolonged bleeding time, Intracranial hemorrhage, Hepatomegaly, Splenomegaly, Bruising susceptibi... ORPHA:3226
Ovalocytosis, Hereditary Hemolytic, With Defective Erythropoiesis
Hemolytic anemia, Elliptocytosis, Anemia of inadequate production OMIM:166910
Isobutyryl-Coa Dehydrogenase Deficiency
Anemia OMIM:611283
Auditory Neuropathy And Optic Atrophy
Pallor OMIM:617717
Splenomegaly, Pallor, Purpura OMIM:254450
Acute Myelomonocytic Leukemia
Abnormal bleeding, Pallor ORPHA:517
Congenital Dyserythropoietic Anemia Type Iii
Elevated hepatic transaminase, Post-partum hemorrhage, Oral cavity bleeding, Melena, Pallor, Ging... ORPHA:98870
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Nonspherocytic hemolytic anemia, Reticulocytosis, Cholecystitis, Cholelithiasis, Normocytic anemi... OMIM:235700
Retinitis Pigmentosa 70
Pallor OMIM:615922
Refractory Anemia
Erythroid hypoplasia, Neutropenia, Normocytic anemia, Thrombocytopenia, Normochromic anemia, Anem... ORPHA:98826
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Hypochromic anemia, Macrothrombocytopenia, Anisocytosis, Anemia of inadequate production, Poikilo... ORPHA:67044
Hemochromatosis, Type 2B
Cirrhosis, Elevated hepatic transaminase, Hepatomegaly, Anemia, Splenomegaly OMIM:613313
American Trypanosomiasis
Arrhythmia, Hepatomegaly, Congestive heart failure, Splenomegaly, Myocarditis, Pallor, Cardiomyop... ORPHA:3386
Congenital Amegakaryocytic Thrombocytopenia
Thrombocytopenia, Abnormal hemoglobin, Anemia ORPHA:3319
Autoimmune Hemolytic Anemia, Warm Type
Jaundice, Congestive heart failure, Tachycardia, Splenomegaly, Pallor ORPHA:90033
Dermatitis, Atopic
Pallor, Facial erythema, Dry skin OMIM:603165
Drug-Induced Autoimmune Hemolytic Anemia
Congestive heart failure, Tachycardia, Pallor, Splenomegaly ORPHA:90037
Hyperinsulinism Due To Hnf4A Deficiency
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating alkaline phosphatase concentrat... ORPHA:263455
Diamond-Blackfan Anemia 16
Anemia OMIM:617408
Neutropenia, Anemia, Splenomegaly OMIM:602079
Benign Paroxysmal Torticollis Of Infancy
Pallor ORPHA:71518
Optic Atrophy 1
Pallor OMIM:165500
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Congenital agranulocytosis, Monocytosis, Thrombocytosis, Acute monocytic leukemia, Neutropenia, A... OMIM:202700
Thrombocytopenia, Anemia, And Myelofibrosis
Thrombocytopenia, Anisopoikilocytosis, Anemia, Splenomegaly OMIM:617441
Acquired Idiopathic Sideroblastic Anemia
Hypochromic anemia, Thrombocytosis, Leukocytosis, Erythroid hyperplasia, Neutropenia, Hyposegment... ORPHA:75564
Breath-Holding Spells
Pallor OMIM:607578
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Elliptocytosis, Increased hemoglobin, Abnormal erythrocyte morphology, Neutropenia, Thrombocytope... OMIM:300835
Reticulocytosis, Hemolytic anemia, Stomatocytosis, Splenomegaly OMIM:185020
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Neutropenia, Thrombocytopenia, Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpu... OMIM:619041
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Pallor ORPHA:2786
Immunodeficiency 69
Thrombocytosis, Leukocytosis, Pancytopenia, Anemia, Splenomegaly, Hepatosplenomegaly OMIM:618963
Hemolytic Poikilocytic Anemia Due To Reduced Ankyrin Binding Sites
Nonspherocytic hemolytic anemia, Heinz body anemia, Elliptocytosis, Poikilocytosis OMIM:141700
Retinitis Pigmentosa 27
Pallor OMIM:613750
Bleeding Disorder, Platelet-Type, 16
Macrothrombocytopenia, Thrombocytopenia, Giant platelets, Anemia, Platelet anisocytosis OMIM:187800
Autoimmune Hemolytic Anemia
Arrhythmia, Pallor, Congestive heart failure, Splenomegaly ORPHA:98375
Pyropoikilocytosis, Hereditary
Microspherocytosis, Hemolytic anemia, Elliptocytosis, Pyropoikilocytosis OMIM:266140
Spherocytosis, Type 2
Hemolytic anemia, Reticulocytosis, Jaundice, Splenomegaly, Acanthocytosis, Spherocytosis OMIM:616649
Solute carrier family 4 (anion exchanger), member 1
Hemolytic anemia, Elliptocytosis, Stomatocytosis, Reticulocytosis, Jaundice, Splenomegaly, Acanth... OMIM:109270
Retinitis Pigmentosa 73
Pallor OMIM:616544
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Hepatosplenomegaly, Pallor OMIM:611590
Diamond-Blackfan Anemia 9
Anemia OMIM:613308
Overhydrated Hereditary Stomatocytosis
Hemolytic anemia, Stomatocytosis, Reticulocytosis, Hepatomegaly, Jaundice, Splenomegaly OMIM:185000
Dehydrated Hereditary Stomatocytosis
Nonspherocytic hemolytic anemia, Increased hemoglobin concentration, Hemolytic anemia, Increased ... ORPHA:3202
Letterer-Siwe Disease
Jaundice, Hepatosplenomegaly, Pallor OMIM:246400
Optic Atrophy 7 With Or Without Auditory Neuropathy
Pallor, Hypertrophic cardiomyopathy OMIM:612989
Bone Marrow Failure Syndrome 2
Thrombocytopenia, Anemia, Leukopenia OMIM:615715
Spherocytosis, Type 1
Hemolytic anemia, Reticulocytosis, Cholelithiasis, Jaundice, Splenomegaly, Spherocytosis OMIM:182900
Diamond-Blackfan Anemia 12
Elevated red cell adenosine deaminase level, Normochromic anemia, Macrocytic anemia, Reticulocyto... OMIM:615550
Hereditary Spherocytosis
Restrictive cardiomyopathy, Cholelithiasis, Hepatomegaly, Jaundice, Splenomegaly, Pallor, Skin ulcer ORPHA:822
Spherocytosis, Type 4
Hemolytic anemia, Reticulocytosis, Jaundice, Splenomegaly, Spherocytosis OMIM:612653
Leber Congenital Amaurosis 14
Pallor OMIM:613341
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hemophagocytosis, Neutropenia, Thrombocytopenia, Jaundice, Hepatomegaly, Anemia, Splenomegaly OMIM:603552
Primary Lateral Sclerosis, Juvenile
Pallor OMIM:606353
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Elevated hepatic iron concentration, Hepatosplenomegaly, Pallor, Elevated hepatic transaminase ORPHA:300298
Thiamine-Responsive Megaloblastic Anemia Syndrome
Paroxysmal atrial tachycardia, Congestive heart failure, Pallor, Cardiac arrest ORPHA:49827
Diamond-Blackfan Anemia 20
Erythroid hypoplasia, Anemia OMIM:618313
Dominant Beta-Thalassemia
Cirrhosis, Arrhythmia, Hepatocellular carcinoma, Hepatic fibrosis, Jaundice, Chronic hepatitis, S... ORPHA:231226
Sickle Cell Anemia
Iron deficiency anemia, Hypochromic anemia, Thrombocytosis, Hemolytic anemia, Chronic hemolytic a... ORPHA:232
Fructose-1,6-Bisphosphatase Deficiency
Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly, Tachycardia, Abnormal enzyme/coen... ORPHA:348
Hydrops Fetalis, Nonimmune
Anemia OMIM:236750
Bleeding Disorder, Platelet-Type, 19
Anemia, Macrothrombocytopenia OMIM:616176
Spontaneous Periodic Hypothermia
Arrhythmia, Pallor ORPHA:29822
Porphyria Cutanea Tarda
Hepatic lobular inflammation, Elevated hepatic transaminase, Viral hepatitis, Hepatic steatosis, ... ORPHA:101330
Non-Functioning Paraganglioma
Palpitations, Hypertension associated with pheochromocytoma, Positive regitine blocking test, Sin... ORPHA:94080
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To
Elevated red cell adenosine deaminase level, Anisopoikilocytosis, Hemolytic anemia, Stomatocytosis OMIM:102730
Fanconi Anemia, Complementation Group G
Thrombocytopenia, Leukemia, Neutropenia, Anemia OMIM:614082
Fanconi Anemia, Complementation Group T
Thrombocytopenia, Pancytopenia, Anemia OMIM:616435
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Prolonged neonatal jaundice, Pallor, Splenomegaly OMIM:300908
Infantile Liver Failure Syndrome 1
Elevated hepatic transaminase, Hepatic steatosis, Acute hepatic failure, Hepatomegaly, Anemia, Ma... OMIM:615438
Beta-Thalassemia Major
Cirrhosis, Arrhythmia, Hepatocellular carcinoma, Hepatic fibrosis, Jaundice, Hepatomegaly, Spleno... ORPHA:231214
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency
Hepatomegaly, Pallor OMIM:246450
Spherocytosis, Type 3
Spherocytosis, Hemolytic anemia OMIM:270970
Diamond-Blackfan Anemia 3
Increased mean corpuscular volume, Macrocytic anemia, Persistence of hemoglobin F, Reticulocytopenia OMIM:610629
Osteopetrosis, Autosomal Recessive 8
Thrombocytopenia, Hepatomegaly, Anemia, Splenomegaly OMIM:615085
Rh-Null, Regulator Type
Jaundice, Hemolytic anemia, Stomatocytosis OMIM:268150
Mu-Heavy Chain Disease
Hepatomegaly, Abnormal B cell count, Anemia, Splenomegaly ORPHA:100024
Fumarase Deficiency
Pallor, Hepatic failure, Cholestasis OMIM:606812
Cyclic Vomiting Syndrome
Pallor, Cardiomyopathy OMIM:500007
Sepsis In Premature Infants
Abnormal bleeding, Purpura, Hypotension, Hepatomegaly, Jaundice, Petechiae, Decreased liver funct... ORPHA:90051
Waldenström Macroglobulinemia
Gastrointestinal hemorrhage, Purpura, Epistaxis, Hepatomegaly, Congestive heart failure, Splenome... ORPHA:33226
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Hepatomegaly, Hepatosplenomegaly, Pallor, Elevated hepatic transaminase ORPHA:331206
Ataxia-Pancytopenia Syndrome
Acute myelomonocytic leukemia, Neutropenia, Pancytopenia, Thrombocytopenia, Hypoplastic anemia, A... OMIM:159550
Lysosomal Acid Lipase Deficiency
Bone-marrow foam cells, Cirrhosis, Elevated circulating aspartate aminotransferase concentration,... OMIM:278000
Familial Focal Epilepsy With Variable Foci
Pallor ORPHA:98820
Hemochromatosis, Type 3
Cirrhosis, Elevated hepatic transaminase, Lymphopenia, Neutropenia, Anemia OMIM:604250
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2
Pallor OMIM:608423
Ovalocytosis, Southeast Asian
Hemolytic anemia, Elliptocytosis OMIM:166900
Osteopetrosis, Autosomal Recessive 4
Reticulocytosis, Thrombocytopenia, Hepatomegaly, Anemia, Splenomegaly, Hepatosplenomegaly OMIM:611490
Anemia, Congenital Dyserythropoietic, Type Iii
Jaundice, Congenital hypoplastic anemia, Macrocytic anemia, Anemia of inadequate production OMIM:105600
Thrombocytopenia 5
Thrombocytopenia, Neutropenia, Anemia OMIM:616216
3-Hydroxy-3-Methylglutaric Aciduria
Elevated hepatic transaminase, Prolonged prothrombin time, Hypotension, Acute pancreatitis, Hepat... ORPHA:20
Hereditary Elliptocytosis
Hemolytic anemia, Elliptocytosis, Stomatocytosis, Reticulocytosis, Abnormal erythrocyte morpholog... ORPHA:288
Elliptocytosis 2
Reticulocytosis, Hemolytic anemia, Elliptocytosis OMIM:130600
Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia
Acanthocytosis, Congenital thrombocytopenia, Poikilocytosis, Anemia of inadequate production OMIM:300367
Rheumatic Fever
Arrhythmia, Pericarditis, Epistaxis, Erythema, Myocarditis, Pallor ORPHA:3099
Medullary Thyroid Carcinoma
Abnormal liver parenchyma morphology ORPHA:1332
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Exocrine pancreatic insufficiency, Hepatomegaly, Jaundice, Splenomegaly, Anemia, Anemia of inadeq... OMIM:612714
Systemic Mastocytosis With Associated Hematologic Neoplasm
Elevated total serum tryptase, Hypotension, Hepatomegaly, Tachycardia, Splenomegaly, Pallor, Syncope ORPHA:98849
Beta-Ketothiolase Deficiency
Hepatomegaly, Hypotension, Pallor, Hypertension ORPHA:134
Leukocyte Adhesion Deficiency, Type Iii
Leukocytosis, Extramedullary hematopoiesis, Hepatomegaly, Anemia, Splenomegaly, Hepatosplenomegaly OMIM:612840
Dohle Bodies And Leukemia
Acute myeloid leukemia, Leukocyte inclusion bodies, Anemia OMIM:223350
Retinitis Pigmentosa 51
Pallor OMIM:613464
Myopathic Ehlers-Danlos Syndrome
Pallor ORPHA:536516
Mixed-Type Autoimmune Hemolytic Anemia
Tachycardia, Pallor ORPHA:90036
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1
Pallor OMIM:600462
Histiocytoid Cardiomyopathy
Wolff-Parkinson-White syndrome, Atrial flutter, Atrial fibrillation, Ventricular tachycardia, Hep... ORPHA:137675
Neonatal Lupus Erythematosus
Hemolytic anemia, Elevated hepatic transaminase, Neutropenia, Pancytopenia, Thrombocytopenia, Hep... ORPHA:398124
Sporadic Pheochromocytoma/Secreting Paraganglioma
Palpitations, Hypertension associated with pheochromocytoma, Positive regitine blocking test, Sin... ORPHA:276621
Idiopathic Hypereosinophilic Syndrome
Elevated hepatic transaminase, Supraventricular arrhythmia, Intracranial hemorrhage, Vasculitis i... ORPHA:3260
Paroxysmal Nocturnal Hemoglobinuria
Abnormal bleeding, Angina pectoris, Pulmonary embolism, Myocardial infarction, Pulmonary arterial... ORPHA:447
Myoclonus, Intractable, Neonatal
Pallor OMIM:617235
Omenn Syndrome
Severe B lymphocytopenia, Thrombocytopenia, Hypoplasia of the thymus, Hepatomegaly, B lymphocytop... OMIM:603554
Bone Marrow Failure Syndrome 6
Persistence of hemoglobin F, Lymphopenia, Neutropenia, Anemia, Increased mean corpuscular volume OMIM:618849
Fanconi Anemia, Complementation Group V
Thrombocytopenia, Neutropenia, Anemia OMIM:617243
Retinitis Pigmentosa 75
Pallor OMIM:617023
Kcnq2-Related Epileptic Encephalopathy
Pallor, Facial erythema ORPHA:439218
Lymphoproliferative Syndrome 1
Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Decreased proportion of CD4-positive he... OMIM:613011
Dravet Syndrome
Pallor ORPHA:33069
Interstitial Lung And Liver Disease
Cirrhosis, Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly, Decreased liver functi... OMIM:615486
Idiopathic Aplastic Anemia
Neutropenia, Reticulocytopenia, Thrombocytopenia, Pancytopenia, Anemia ORPHA:88
Von Hippel-Lindau Disease
Palpitations, Arrhythmia, Pancreatic cysts, Pancreatic islet cell adenoma, Abnormal left ventricu... ORPHA:892
Hereditary Pheochromocytoma-Paraganglioma
Palpitations, Hypertension associated with pheochromocytoma, Positive regitine blocking test, Sin... ORPHA:29072
Gamma-Heavy Chain Disease
Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Abnormal lymphocyte morphology, Thrombo... ORPHA:100026
Retinitis Pigmentosa And Erythrocytic Microcytosis
Elliptocytosis, Anisocytosis, Anemia, Decreased mean corpuscular volume, Poikilocytosis OMIM:616959
Fanconi Anemia, Complementation Group I
Pallor OMIM:609053
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency
Pallor ORPHA:13
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Pancytopenia, Hemophagocytosis, Anemia, Splenomegaly OMIM:618398
Aregenerative Anemia
Abnormal bleeding, Bruising susceptibility, Pallor ORPHA:101096
Refractory Anemia With Excess Blasts
Palpitations, Abnormal bleeding, Anemic pallor, Retinal hemorrhage ORPHA:86839
Cone-Rod Dystrophy 8
Pallor OMIM:605549
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease
Exocrine pancreatic insufficiency, Hyperechogenic pancreas, Hepatomegaly, Abnormal liver parenchy... ORPHA:456312
Generalized Juvenile Polyposis/Juvenile Polyposis Coli
Anemic pallor, Abnormal bleeding, Hematochezia ORPHA:329971
Tay-Sachs Disease
Pallor OMIM:272800
Telangiectasia, Hereditary Hemorrhagic, Type 2
Conjunctival telangiectasia, Lip telangiectasia, Melena, Cerebral hemorrhage, Pulmonary arterial ... OMIM:600376
Developmental And Epileptic Encephalopathy 50
Anisopoikilocytosis, Schistocytosis, Anemia, Acanthocytosis OMIM:616457
Rare Circulatory System Disease
Pallor, Intermittent claudication ORPHA:98028
Multiple Endocrine Neoplasia Type 2
Palpitations, Hypertension associated with pheochromocytoma, Hypertensive crisis, Neoplasm of the... ORPHA:653
Sheehan Syndrome
Palpitations, Orthostatic hypotension, Pallor, Bradycardia, Dry skin ORPHA:91355
Autosomal Recessive Malignant Osteopetrosis
Hepatomegaly, Splenomegaly, Pulmonary arterial hypertension, Bruising susceptibility, Pallor ORPHA:667
Plummer-Vinson Syndrome
Pallor ORPHA:54028
Pituitary Apoplexy
Hypotension, Pallor, Hypertension ORPHA:95613
Myopathy, Mitochondrial, And Ataxia
Pallor OMIM:617675
Non-Functioning Pituitary Adenoma
Hypotension, Pallor ORPHA:91349
Childhood Absence Epilepsy
Pallor ORPHA:64280
Hereditary Folate Malabsorption
Pallor ORPHA:90045
Pallor, Orthostatic hypotension ORPHA:95512
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Thrombocytopenia, Microangiopathic hemolytic anemia, Anemia OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Thrombocytopenia, Microangiopathic hemolytic anemia, Anemia OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Thrombocytopenia, Microangiopathic hemolytic anemia, Anemia OMIM:612925
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Thrombocytopenia, Microangiopathic hemolytic anemia, Anemia OMIM:612924
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Thrombocytopenia, Microangiopathic hemolytic anemia, Anemia OMIM:612926
Telangiectasia, Hereditary Hemorrhagic, Type 1
Conjunctival telangiectasia, Lip telangiectasia, Melena, Cerebral hemorrhage, High-output congest... OMIM:187300
Abnormal liver lobulation OMIM:608022
Incontinentia Pigmenti
Retinal hemorrhage, Pallor, Erythema OMIM:308300
Pallor, Orthostatic hypotension ORPHA:95513
Alternating Hemiplegia Of Childhood
Arrhythmia, Cardiac conduction abnormality, Abnormal T-wave, Pallor, Cardiomyopathy ORPHA:2131
Hypotension, Pallor ORPHA:2965
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome
Hematochezia, Hepatic arteriovenous malformation, Epistaxis, Mitral regurgitation, Telangiectasia OMIM:175050
Fanconi Anemia, Complementation Group D2
Anemic pallor, Bruising susceptibility, Patent ductus arteriosus, Annular pancreas OMIM:227646
Infection-Related Hemolytic Uremic Syndrome
Hypertensive crisis, Hypertension, Pancreatitis, Myocarditis, Pallor ORPHA:544482
Tsh-Secreting Pituitary Adenoma
Ventricular arrhythmia, Palpitations, Supraventricular arrhythmia, Hypotension, Hypertension, Con... ORPHA:91347
Mosaic Trisomy 9
Abnormal liver lobulation, Asplenia, Patent ductus arteriosus ORPHA:99776
Diamond-Blackfan Anemia 1
Elevated red cell adenosine deaminase level, Tricuspid stenosis, Congestive heart failure, Pallor OMIM:105650
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
Right ventricular failure, Patent ductus arteriosus, Tricuspid regurgitation, Hepatomegaly, Tachy... ORPHA:99125
Fanconi Anemia, Complementation Group C
Anemic pallor, Bruising susceptibility OMIM:227645
Blackfan-Diamond Anemia
Elevated red cell adenosine deaminase level, Pallor ORPHA:124
Kasabach-Merritt Syndrome
Microangiopathic hemolytic anemia, Reticulocytosis, Neutropenia, Thrombocytopenia, Hepatic hemang... ORPHA:2330
Esophageal Atresia
Pallor ORPHA:1199
Juvenile Polyposis Syndrome
Gastrointestinal hemorrhage, Hematochezia, Spontaneous, recurrent epistaxis, Hepatic arteriovenou... ORPHA:2929
Arrhythmia, Heart block, Abnormal cardiac ventricular function, Ventricular tachycardia, Hepatome... ORPHA:797
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Pallor OMIM:253280
Goodpasture Syndrome
Pulmonary hemorrhage, Pallor OMIM:233450
Elevated hepatic transaminase, Pericarditis, Angina pectoris, Intracranial hemorrhage, Hepatic fi... 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

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