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Gene: Map2k4 MGI:1346869

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Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
mitogen-activated protein kinase kinase 4
Synonyms:
Sek1,  Serk1,  MKK4,  JNKK1

Order Alleles

IMPC Data Collections

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

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.

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
phenotypes		 Matching phenotypes Source
Diamond-Blackfan Anemia 19
Anemia, Erythroid hypoplasia, Steroid-responsive anemia OMIM:618312
Transient Erythroblastopenia Of Childhood
Anemia, Transient erythroblastopenia OMIM:227050
Diamond-Blackfan Anemia-Like
Steroid-responsive anemia, Pure red cell aplasia OMIM:617911
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Hepatomegaly, Pallor, Splenomegaly ORPHA:46532
Hemoglobin D Disease
Reduced beta/alpha synthesis ratio, Reduced hemoglobin A, Imbalanced hemoglobin synthesis, Spleno... ORPHA:90039
Diamond-Blackfan Anemia 17
Anemia OMIM:617409
Hemoglobin-Delta locus
Anemia, Imbalanced hemoglobin synthesis OMIM:142000
Anemia, Sideroblastic, 4
Sideroblastic anemia, Abnormal erythrocyte morphology OMIM:182170
Hemoglobin H Disease
HbH hemoglobin, Splenomegaly, Hepatomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia OMIM:613978
Beta-Thalassemia, Dominant Inclusion Body Type
Persistence of hemoglobin F, Microcytic anemia, Splenomegaly, Erythrocyte inclusion bodies, Hepat... OMIM:603902
Anemia, Sideroblastic, 2, Pyridoxine-Refractory
Anemia, Sideroblastic anemia, Decreased mean corpuscular volume, Hypochromia OMIM:205950
Hemoglobin E-Beta-Thalassemia Syndrome
Anemia, Abnormal hemoglobin ORPHA:231249
Hemoglobin C-Beta-Thalassemia Syndrome
Anemia, Splenomegaly, Microcytic anemia, Abnormal hemoglobin ORPHA:231242
Heinz Body Anemias
Heinz bodies, Nonspherocytic hemolytic anemia, Heinz body anemia OMIM:140700
Diamond-Blackfan Anemia 18
Erythroid hypoplasia, Neutropenia, Steroid-responsive anemia OMIM:618310
Reticuloendotheliosis, X-Linked
Anemia, Jaundice, Hepatosplenomegaly OMIM:312500
Cyanosis, Transient Neonatal
Reticulocytosis, Methemoglobinemia, Hepatomegaly, Anemia, Jaundice OMIM:613977
Delta-Beta-Thalassemia
Anemia, Microcytic anemia, Abnormal hemoglobin ORPHA:231237
Adenylate Kinase Deficiency, Hemolytic Anemia Due To
Hemolytic anemia, Reduced erythrocyte adenylate kinase activity OMIM:612631
X-Linked Sideroblastic Anemia
Elevated circulating hepatic transaminase concentration, Pallor, Splenomegaly ORPHA:75563
Erythroleukemia, Familial, Susceptibility To
Erythroid hyperplasia, Splenomegaly, Hepatomegaly, Anemia, Acute myeloid leukemia, Thrombocytopen... OMIM:133180
Anemia, Hypochromic Microcytic, With Iron Overload 1
Erythroid hyperplasia, Elevated hepatic iron concentration, Hypochromia, Anemia, Decreased mean c... OMIM:206100
Hyperbilirubinemia, Shunt, Primary
Erythroid hyperplasia, Splenomegaly, Anemia of inadequate production, Reticulocytosis, Hepatomega... OMIM:237800
Thanatophoric Dysplasia, Glasgow Variant
Anemia, Hepatosplenomegaly, Neonatal death OMIM:273680
Hemoglobin E Disease
Increased red blood cell count, Reduced hemoglobin A, Drug-sensitive hemolytic anemia, Splenomega... ORPHA:2133
Chromosome 5Q Deletion Syndrome
Erythroid hypoplasia, Refractory macrocytic anemia, Anemia of inadequate production OMIM:153550
Congenital Atransferrinemia
Anemia, Abnormality of the pancreas ORPHA:1195
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Anemia, Splenomegaly, Thrombocytopenia, Abnormal hemoglobin ORPHA:231393
Evans Syndrome
Epistaxis, Bruising susceptibility, Pallor, Petechiae, Syncope, Jaundice ORPHA:1959
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Pallor, Hypertrophic cardi... OMIM:613561
Acute Peripheral Arterial Occlusion
Abnormal capillary physiology, Supraventricular tachycardia, Pallor, Abnormality of venous physio... ORPHA:90064
Acetophenetidin Sensitivity
Methemoglobinemia, Hemolytic anemia OMIM:200300
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin
Poikilocytosis, Oval macrocytosis, Anemia of inadequate production, Anisocytosis OMIM:603529
Nphp3-Related Meckel-Like Syndrome
Abnormal liver parenchyma morphology, Abnormality of the pancreas, Abnormal biliary tract morphology ORPHA:3032
Anemia, Congenital Dyserythropoietic, Type Ib
Hepatomegaly, Jaundice, Pallor, Splenomegaly OMIM:615631
Irida Syndrome
Intrahepatic cholestasis, Pallor ORPHA:209981
Beta-Thalassemia
Cholelithiasis, Hepatitis, Skin ulcer, Hypertrophic cardiomyopathy, Pallor, Splenomegaly, Hepatom... ORPHA:848
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Elevated circulating hepatic transaminase concentration, Hepatosplenomegaly, Erythroid hyperplasi... OMIM:616860
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Reduced red cell pyruvate kinase level, Congenital hemolytic anemia, Abnormal erythrocyte morphol... ORPHA:766
Hb Bart'S Hydrops Fetalis
Congestive heart failure, Pallor, Splenomegaly, Hepatomegaly, Pericarditis ORPHA:163596
Anemia, Sideroblastic, 5
Reduced hematocrit, Hypochromic microcytic anemia, Thrombocytopenia, Anemia, Neutropenia OMIM:619523
Hyperinsulinism Due To Ucp2 Deficiency
Diffuse pancreatic islet hyperplasia, Hypertrophic cardiomyopathy, Palpitations, Pallor, Syncope,... ORPHA:276556
Atransferrinemia
Abnormality of the liver, Hypochromic anemia OMIM:209300
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Diffuse pancreatic islet hyperplasia, Hypertrophic cardiomyopathy, Focal pancreatic islet hyperpl... ORPHA:276575
Elliptocytosis 1
Jaundice, Pallor, Splenomegaly OMIM:611804
Leishmaniasis
Elevated circulating hepatic transaminase concentration, Abnormal bleeding, Skin ulcer, Pallor, S... ORPHA:507
Pyruvate Kinase Deficiency Of Red Cells
Cholelithiasis, Reduced red cell pyruvate kinase level, Pallor, Splenomegaly, Cholecystitis, Hepa... OMIM:266200
Myelofibrosis
Hepatomegaly, Purpura, Splenomegaly, Pallor OMIM:254450
Nephronophthisis
Anemia ORPHA:655
Anemia, Congenital Dyserythropoietic, Type Ii
Cholelithiasis, Splenomegaly, Anemia of inadequate production, Reticulocytosis, Jaundice OMIM:224100
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Anemia, Leukocytosis OMIM:619398
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Diffuse pancreatic islet hyperplasia, Hypertrophic cardiomyopathy, Palpitations, Pallor, Syncope,... ORPHA:276580
Primary Myelofibrosis
Increased circulating lactate dehydrogenase concentration, Abnormal bleeding, Hepatosplenomegaly,... ORPHA:824
Methylmalonic Acidemia With Homocystinuria, Type Cbld
Pallor ORPHA:79283
Peripheral Cone Dystrophy
Pallor OMIM:609021
Hepatoportal Sclerosis
Nodular regenerative hyperplasia of liver, Periportal fibrosis, Elevated circulating hepatic tran... ORPHA:64743
Cone-Rod Dystrophy 11
Pallor OMIM:610381
Dehydrated Hereditary Stomatocytosis 2
Increased mean corpuscular volume, Increased mean corpuscular hemoglobin concentration, Thrombocy... OMIM:616689
Anemia, Sideroblastic, 1
Sideroblastic anemia, Hypochromic microcytic anemia, Anemia of inadequate production, Macrocytic ... OMIM:300751
6-Phosphogluconolactonase Deficiency
Hemolytic anemia OMIM:172150
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Cholelithiasis, Hepatitis, Pallor, Splenomegaly, Hepatomegaly, Jaundice OMIM:194380
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Normocytic anemia, Cholelithiasis, Splenomegaly, Reticulocytosis, Cholecystitis, Nonspherocytic h... OMIM:235700
Cold Agglutinin Disease
Hepatomegaly, Pallor, Splenomegaly ORPHA:56425
Beta-Thalassemia Intermedia
Cholelithiasis, Skin ulcer, Decreased liver function, Hepatosplenomegaly, Abnormality of the live... ORPHA:231222
Spherocytosis, Type 5
Abnormal leukocyte count, Splenomegaly, Reticulocytosis, Abnormal platelet count, Spherocytosis, ... OMIM:612690
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Hepatomegaly, Jaundice, Increased circulating lactate dehydrogenase concentration, Pallor OMIM:613839
Hyperinsulinism Due To Hnf1A Deficiency
Palpitations, Pallor, Syncope, Hepatomegaly, Tachycardia ORPHA:324575
Hemophagocytic Lymphohistiocytosis, Familial, 3
Anemia, Hepatosplenomegaly, Hemophagocytosis, Granulocytopenia OMIM:608898
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Extramedullary hematopoiesis, Leukopenia, Splenomegaly, Hepatomegaly, Thrombocytopenia, Neutropen... OMIM:615285
Overhydrated Hereditary Stomatocytosis
Abnormal mean corpuscular volume, Stomatocytosis, Hemolytic anemia, Splenomegaly, Reticulocytosis... ORPHA:3203
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Tachycardia, Pallor, Pancreatic islet-cell hyperplasia ORPHA:276608
Congenital Dyserythropoietic Anemia Type Iii
Gingival bleeding, Elevated circulating hepatic transaminase concentration, Pallor, Melena, Oral ... ORPHA:98870
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hepatomegaly, Pallor, Splenomegaly, Elevated hepatic iron concentration OMIM:615234
Isobutyryl-Coa Dehydrogenase Deficiency
Anemia OMIM:611283
Anemia, Congenital Dyserythropoietic, Type Iiib, Autosomal Recessive
Macrocytic dyserythropoietic anemia, Macrocytic anemia OMIM:619789
Citrullinemia, Type Ii, Adult-Onset
Hepatic fibrosis, Elevated gamma-glutamyltransferase level, Portal inflammation, Ballooning hepat... OMIM:603471
Eosinophilia, Familial
Anemia, Eosinophilia, Leukocytosis, Thrombocytopenia OMIM:131400
Deafness-Lymphedema-Leukemia Syndrome
Bruising susceptibility, Pallor, Splenomegaly, Hepatomegaly, Intracranial hemorrhage, Prolonged b... ORPHA:3226
Acute Myelomonocytic Leukemia
Abnormal bleeding, Pallor ORPHA:517
Congenital Heart Block
Atrioventricular block, Second degree atrioventricular block, Third degree atrioventricular block... ORPHA:60041
Dermatitis, Atopic
Dry skin, Facial erythema, Pallor OMIM:603165
American Trypanosomiasis
Cardiomyopathy, Congestive heart failure, Pallor, Splenomegaly, Arrhythmia, Myocarditis, Hepatome... ORPHA:3386
Elliptocytosis 3
Intermittent jaundice, Pyropoikilocytosis, Elliptocytosis, Decreased mean corpuscular volume, Chr... OMIM:617948
Drug-Induced Autoimmune Hemolytic Anemia
Tachycardia, Pallor, Splenomegaly, Congestive heart failure ORPHA:90037
Autoimmune Hemolytic Anemia, Warm Type
Congestive heart failure, Pallor, Splenomegaly, Jaundice, Tachycardia ORPHA:90033
Refractory Anemia
Normocytic anemia, Anemia of inadequate production, Macrocytic anemia, Erythroid hypoplasia, Neut... ORPHA:98826
Diamond-Blackfan Anemia 16
Anemia OMIM:617408
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Hypochromic anemia, Anemia of inadequate production, Anisocytosis, Poikilocytosis, Macrothrombocy... ORPHA:67044
Trimethylaminuria
Anemia, Splenomegaly, Neutropenia OMIM:602079
Benign Paroxysmal Torticollis Of Infancy
Pallor ORPHA:71518
Senior-Loken Syndrome 8
Intrahepatic bile duct dilatation, Pancreatic cysts, Pallor, Hepatic cysts OMIM:616307
Idiopathic Pulmonary Hemosiderosis
Diffuse alveolar hemorrhage, Hepatosplenomegaly, Pallor, Hepatomegaly, Heart murmur ORPHA:99931
Ovalocytosis, Hereditary Hemolytic, With Defective Erythropoiesis
Hemolytic anemia, Anemia of inadequate production, Elliptocytosis OMIM:166910
Breath-Holding Spells
Pallor OMIM:607578
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Acute monocytic leukemia, Congenital agranulocytosis, Thrombocytosis, Eosinophilia, Neutropenia, ... OMIM:202700
Optic Atrophy 7 With Or Without Auditory Neuropathy
Hypertrophic cardiomyopathy, Pallor OMIM:612989
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Elevated circulating hepatic transaminase concentration, Pallor, Elevated circulating alkaline ph... ORPHA:263455
Acquired Idiopathic Sideroblastic Anemia
Normocytic anemia, Megaloblastic erythroid hyperplasia, Hypochromic anemia, Pancytopenia, Erythro... ORPHA:75564
Thrombocytopenia, Anemia, And Myelofibrosis
Anemia, Splenomegaly, Thrombocytopenia, Anisopoikilocytosis OMIM:617441
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Increased mean corpuscular volume, Pancytopenia, Acute myeloid leukemia, Thrombocytopenia, Neutro... OMIM:619041
Hemochromatosis, Type 2B
Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Splenomegaly, Hepatome... OMIM:613313
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Pallor ORPHA:2786
Bleeding Disorder, Platelet-Type, 16
Platelet anisocytosis, Giant platelets, Thrombocytopenia, Anemia, Macrothrombocytopenia OMIM:187800
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To
Reduced erythrocyte adenosine triphosphate concentration, Stomatocytosis, Erythroid hyperplasia, ... OMIM:301083
Neutropenia, Severe Congenital, 10, Autosomal Recessive
Anemia, Thrombocytopenia, Neutropenia, Monocytosis OMIM:620534
Leber Congenital Amaurosis 14
Pallor OMIM:613341
Dehydrated Hereditary Stomatocytosis
Cholelithiasis, Increased mean corpuscular volume, Polycythemia, Increased mean corpuscular hemog... ORPHA:3202
Acute Erythroid Leukemia
Erythroid hypoplasia, Pancytopenia, Anemia, Leukopenia ORPHA:318
Diamond-Blackfan Anemia 3
Increased mean corpuscular volume, Elevated red cell adenosine deaminase activity, Persistence of... OMIM:610629
Anemia, Congenital Dyserythropoietic, Type Ia
Macrocytic dyserythropoietic anemia, Erythroid hyperplasia, Reticulocytosis, Anemia of inadequate... OMIM:224120
Letterer-Siwe Disease
Jaundice, Hepatosplenomegaly, Pallor OMIM:246400
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Hepatosplenomegaly, Pallor OMIM:611590
Anemia, Congenital Dyserythropoietic, Type Iv
Increased RBC distribution width, Persistence of hemoglobin F, Hepatosplenomegaly, Reduced hemato... OMIM:613673
Diamond-Blackfan Anemia 9
Anemia OMIM:613308
Immunodeficiency 69
Hemophagocytosis, Hepatosplenomegaly, Pancytopenia, Leukocytosis, Splenomegaly, Thrombocytosis, A... OMIM:618963
Optic Atrophy 1
Pallor OMIM:165500
Bleeding Disorder, Platelet-Type, 19
Anemia, Macrothrombocytopenia, Thrombocytopenia OMIM:616176
Hereditary Spherocytosis
Cholelithiasis, Restrictive cardiomyopathy, Skin ulcer, Pallor, Splenomegaly, Hepatomegaly, Jaundice ORPHA:822
Spherocytosis, Type 2
Acanthocytosis, Splenomegaly, Reticulocytosis, Spherocytosis, Jaundice, Hemolytic anemia OMIM:616649
Diamond-Blackfan Anemia 20
Erythroid hypoplasia, Anemia OMIM:618313
Thiamine-Responsive Megaloblastic Anemia Syndrome
Paroxysmal atrial tachycardia, Cardiac arrest, Pallor, Congestive heart failure ORPHA:49827
Diamond-Blackfan Anemia 12
Reticulocytopenia, Normochromic anemia, Macrocytic anemia, Elevated red cell adenosine deaminase ... OMIM:615550
Pyropoikilocytosis, Hereditary
Hemolytic anemia, Microspherocytosis, Pyropoikilocytosis, Elliptocytosis OMIM:266140
Spherocytosis, Type 1
Cholelithiasis, Splenomegaly, Reticulocytosis, Spherocytosis, Jaundice, Hemolytic anemia OMIM:182900
Dominant Beta-Thalassemia
Hepatic fibrosis, Dilated cardiomyopathy, Skin ulcer, Hepatosplenomegaly, Hypersplenism, Pallor, ... ORPHA:231226
Hemolytic Anemia, Congenital, X-Linked
Jaundice, Hemolytic anemia OMIM:301015
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Hepatosplenomegaly, Elevated circulating hepatic transaminase concentration, Pallor, Elevated hep... ORPHA:300298
Fructose-1,6-Bisphosphatase Deficiency
Elevated circulating hepatic transaminase concentration, Abnormal circulating enzyme concentratio... ORPHA:348
Alpha-Thalassemia
Cholelithiasis, Extramedullary hematopoiesis, Microcytic anemia, Hemoglobin Barts, Hepatosplenome... ORPHA:846
Familial Focal Epilepsy With Variable Foci
Pallor ORPHA:98820
Spherocytosis, Type 4
Splenomegaly, Reticulocytosis, Spherocytosis, Jaundice, Hemolytic anemia OMIM:612653
Spontaneous Periodic Hypothermia
Arrhythmia, Pallor ORPHA:29822
Primary Lateral Sclerosis, Juvenile
Pallor OMIM:606353
Hydrops Fetalis, Nonimmune
Anemia OMIM:236750
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Prolonged neonatal jaundice, Jaundice, Pallor, Splenomegaly OMIM:300908
Non-Functioning Paraganglioma
Sinus tachycardia, Congestive heart failure, Positive regitine blocking test, Palpitations, Pallo... ORPHA:94080
Bone Marrow Failure Syndrome 2
Anemia, Leukopenia, Thrombocytopenia OMIM:615715
Thrombocytopenia 5
Increased mean corpuscular volume, B Acute Lymphoblastic Leukemia, Neutropenia, Thrombocytopenia,... OMIM:616216
Cryohydrocytosis
Stomatocytosis, Hemolytic anemia, Splenomegaly, Reticulocytosis OMIM:185020
Beta-Thalassemia Major
Hepatic fibrosis, Dilated cardiomyopathy, Skin ulcer, Hepatosplenomegaly, Hypersplenism, Pallor, ... ORPHA:231214
Waldenström Macroglobulinemia
Gingival bleeding, Vasculitis, Gastrointestinal hemorrhage, Epistaxis, Congestive heart failure, ... ORPHA:33226
Sepsis In Premature Infants
Hypotension, Abnormal bleeding, Decreased liver function, Pallor, Splenomegaly, Petechiae, Bradyc... ORPHA:90051
Cyclic Vomiting Syndrome
Pallor, Cardiomyopathy OMIM:500007
Porphyria Cutanea Tarda
Periportal fibrosis, Elevated circulating hepatic transaminase concentration, Portal inflammation... ORPHA:101330
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Hepatomegaly, Hepatosplenomegaly, Elevated circulating hepatic transaminase concentration, Pallor ORPHA:331206
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency
Reduced HMG-CoA lyase activity in cultured fibroblasts, Elevated circulating aspartate aminotrans... OMIM:246450
Spherocytosis, Type 3
Hemolytic anemia, Spherocytosis OMIM:270970
Rh-Null, Regulator Type
Jaundice, Stomatocytosis, Hemolytic anemia OMIM:268150
Amegakaryocytic Thrombocytopenia, Congenital, 2
Aplastic anemia, Pancytopenia, Thrombocytopenia, Neutropenia, Anemia OMIM:620481
3-Hydroxy-3-Methylglutaric Aciduria
Hypotension, Elevated circulating hepatic transaminase concentration, Dilated cardiomyopathy, Pal... ORPHA:20
Overhydrated Hereditary Stomatocytosis
Stomatocytosis, Increased mean corpuscular volume, Splenomegaly, Reticulocytosis, Hepatomegaly, P... OMIM:185000
Rh-Null, Amorph Type
Stomatocytosis, Hemolytic anemia, Reticulocytosis, Anisocytosis OMIM:617970
Cholesteryl Ester Storage Disease
Hepatic bridging fibrosis, Hepatic fibrosis, Hepatic failure, Periportal fibrosis, Increased hepa... OMIM:278000
Dohle Bodies And Leukemia
Anemia, Acute myeloid leukemia, Leukocyte inclusion bodies OMIM:223350
Retinitis Pigmentosa 51
Pallor OMIM:613464
Ovalocytosis, Southeast Asian
Hemolytic anemia, Elliptocytosis OMIM:166900
Pearson Marrow-Pancreas Syndrome
Erythema, Hepatic failure, Elevated circulating hepatic transaminase concentration, Exocrine panc... OMIM:557000
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Abnormal reticulocyte morphology, Elliptocytosis, Macrocytic anemia, Anisocytosis, Neutropenia, P... OMIM:300835
Rheumatic Fever
Epistaxis, Erythema, Pallor, Arrhythmia, Myocarditis, Pericarditis ORPHA:3099
Beta-Ketothiolase Deficiency
Hepatomegaly, Hypotension, Hypertension, Pallor ORPHA:134
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2
Hepatosplenomegaly, Congenital thrombocytopenia, Neutropenia, Thrombocytopenia, Anemia OMIM:616738
Systemic Mastocytosis With Associated Hematologic Neoplasm
Hypotension, Elevated total serum tryptase, Pallor, Splenomegaly, Syncope, Hepatomegaly, Tachycardia ORPHA:98849
Elliptocytosis 2
Hemolytic anemia, Reticulocytosis, Elliptocytosis OMIM:130600
Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia
Acanthocytosis, Congenital thrombocytopenia, Anemia of inadequate production, Poikilocytosis OMIM:300367
Myopathic Ehlers-Danlos Syndrome
Pallor ORPHA:536516
Immunodeficiency 21
Reduced natural killer cell count, Aplastic anemia, Lymphopenia, Anemia, Neutropenia, B lymphocyt... OMIM:614172
Dravet Syndrome
Pallor ORPHA:33069
Medullary Thyroid Carcinoma
Abnormal liver parenchyma morphology ORPHA:1332
Anemia, Congenital Dyserythropoietic, Type Iiia
Macrocytic anemia, Jaundice, Congenital hypoplastic anemia, Anemia of inadequate production OMIM:105600
Mixed-Type Autoimmune Hemolytic Anemia
Tachycardia, Pallor ORPHA:90036
Histiocytoid Cardiomyopathy
Junctional ectopic tachycardia, Atrioventricular block, Atrial flutter, Congestive heart failure,... ORPHA:137675
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Hypotension, Decreased methylmalonyl-CoA mutase activity, Decreased methionine synthase activity,... OMIM:277400
Idiopathic Hypereosinophilic Syndrome
Portal fibrosis, Elevated circulating hepatic transaminase concentration, Pulmonary embolism, Dil... ORPHA:3260
Sporadic Pheochromocytoma/Secreting Paraganglioma
Sinus tachycardia, Congestive heart failure, Positive regitine blocking test, Palpitations, Pallo... ORPHA:276621
Fumarase Deficiency
Decreased fumarate hydratase activity, Intrahepatic cholestasis, Hepatic failure, Pallor OMIM:606812
Rh Deficiency Syndrome
Stomatocytosis, Hepatosplenomegaly, Reticulocytosis, Macrocytic anemia, Anisocytosis, Spherocytos... ORPHA:71275
Kcnq2-Related Epileptic Encephalopathy
Facial erythema, Pallor ORPHA:439218
Autoinflammation With Pulmonary And Cutaneous Vasculitis
Anemia, Hepatomegaly, Splenomegaly OMIM:620296
Bone Marrow Failure Syndrome 6
Increased mean corpuscular volume, Persistence of hemoglobin F, Lymphopenia, Neutropenia, Anemia OMIM:618849
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Cholestatic liver disease, Giant cell hepatitis, Elevated gamma-glutamyltransferase level, Elevat... OMIM:208085
Orthostatic Hypotension 2
Anemia OMIM:618182
Glycogen Storage Disease Xii
Normocytic anemia, Cholelithiasis, Splenomegaly, Cholecystitis, Decreased erythrocyte fructose-1,... OMIM:611881
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1
Pallor OMIM:600462
Retinitis Pigmentosa 75
Pallor OMIM:617023
Refractory Anemia With Excess Blasts
Retinal hemorrhage, Anemic pallor, Palpitations, Abnormal bleeding ORPHA:86839
Hereditary Pheochromocytoma-Paraganglioma
Sinus tachycardia, Congestive heart failure, Positive regitine blocking test, Palpitations, Pallo... ORPHA:29072
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency
Pallor ORPHA:13
Retinitis Pigmentosa And Erythrocytic Microcytosis
Leukopenia, Elliptocytosis, Anisocytosis, Hypochromia, Poikilocytosis, Anemia, Thrombocytopenia, ... OMIM:616959
Von Hippel-Lindau Disease
Cardiomyopathy, Palpitations, Pallor, Myocardial infarction, Arrhythmia, Pancreatic islet cell ad... ORPHA:892
Idiopathic Aplastic Anemia
Pancytopenia, Reticulocytopenia, Thrombocytopenia, Neutropenia, Anemia ORPHA:88
Cone-Rod Dystrophy 8
Pallor OMIM:605549
Tay-Sachs Disease
Pallor OMIM:272800
Fanconi Anemia, Complementation Group I
Pallor OMIM:609053
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease
Exocrine pancreatic insufficiency, Hyperechogenic pancreas, Abnormal liver parenchyma morphology,... ORPHA:456312
Aregenerative Anemia
Abnormal bleeding, Bruising susceptibility, Pallor ORPHA:101096
Hereditary Hemorrhagic Telangiectasia
Nasal mucosa telangiectasia, Telangiectasia, Cirrhosis, Retinal telangiectasia, Cholelithiasis, G... ORPHA:774
Sitosterolemia 1
Stomatocytosis, Giant platelets, Reticulocytosis, Splenomegaly, Episodic hemolytic anemia, Thromb... OMIM:210250
Imerslund-Gräsbeck Syndrome
Tachycardia, Abnormal bleeding, Pallor ORPHA:35858
Generalized Juvenile Polyposis/Juvenile Polyposis Coli
Hematochezia, Anemic pallor, Abnormal bleeding ORPHA:329971
Interstitial Lung And Liver Disease
Hepatic fibrosis, Hepatic failure, Cholestasis, Elevated circulating aspartate aminotransferase c... OMIM:615486
Plummer-Vinson Syndrome
Pallor ORPHA:54028
Childhood Absence Epilepsy
Pallor ORPHA:64280
Autosomal Recessive Malignant Osteopetrosis
Bruising susceptibility, Pallor, Splenomegaly, Pulmonary arterial hypertension, Hepatomegaly ORPHA:667
Telangiectasia, Hereditary Hemorrhagic, Type 2
Nasal mucosa telangiectasia, Cirrhosis, Facial telangiectasia, Cerebral hemorrhage, Fingerpad tel... OMIM:600376
Hereditary Folate Malabsorption
Pallor ORPHA:90045
Myopathy, Mitochondrial, And Ataxia
Pallor OMIM:617675
Sheehan Syndrome
Dry skin, Palpitations, Pallor, Orthostatic hypotension, Bradycardia ORPHA:91355
Adenohypophysitis
Pallor, Orthostatic hypotension ORPHA:95512
Neuroblastoma
Abnormal bleeding, Anemic pallor, Increased circulating lactate dehydrogenase concentration, Hype... ORPHA:635
Pituitary Apoplexy
Hypotension, Hypertension, Pallor ORPHA:95613
Multiple Endocrine Neoplasia Type 2
Hypertensive crisis, Palpitations, Pallor, Hypertension associated with pheochromocytoma, Neoplas... ORPHA:653
Non-Functioning Pituitary Adenoma
Hypotension, Pallor ORPHA:91349
Panhypophysitis
Pallor, Orthostatic hypotension ORPHA:95513
Alternating Hemiplegia Of Childhood
Cardiomyopathy, Abnormal T-wave, Pallor, Cardiac conduction abnormality, Arrhythmia ORPHA:2131
Anemia, Sideroblastic, And Spinocerebellar Ataxia
Pallor OMIM:301310
Telangiectasia, Hereditary Hemorrhagic, Type 1
Pulmonary hemorrhage, Nasal mucosa telangiectasia, High-output congestive heart failure, Telangie... OMIM:187300
Incontinentia Pigmenti
Retinal hemorrhage, Erythema, Pallor OMIM:308300
Degcags Syndrome
Cholestasis, Hepatosplenomegaly, Pallor, Abnormal spleen morphology, Pulmonary arterial hypertens... OMIM:619488
Prolactinoma
Hypotension, Pallor ORPHA:2965
Diaphanospondylodysostosis
Abnormal liver lobulation OMIM:608022
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome
Epistaxis, Hematochezia, Mitral regurgitation, Hepatic arteriovenous malformation, Telangiectasia OMIM:175050
Fanconi Anemia, Complementation Group D2
Anemic pallor, Annular pancreas, Bruising susceptibility, Patent ductus arteriosus OMIM:227646
Infection-Related Hemolytic Uremic Syndrome
Hypertensive crisis, Pallor, Pancreatitis, Myocarditis, Hypertension ORPHA:544482
Tsh-Secreting Pituitary Adenoma
Hypotension, Congestive heart failure, Palpitations, Pallor, Supraventricular arrhythmia, Ventric... ORPHA:91347
Mosaic Trisomy 9
Asplenia, Patent ductus arteriosus, Abnormal liver lobulation ORPHA:99776
Fanconi Anemia, Complementation Group E
Anemic pallor, Bruising susceptibility OMIM:600901
Fanconi Anemia, Complementation Group A
Anemic pallor, Bruising susceptibility OMIM:227650
Diamond-Blackfan Anemia 1
Tricuspid stenosis, Elevated red cell adenosine deaminase activity, Pallor, Congestive heart failure OMIM:105650
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity
Hepatic sinusoidal dilatation, Tricuspid regurgitation, Splenic cyst, Vitreous hemorrhage, Pancre... OMIM:620371
Fanconi Anemia, Complementation Group C
Anemic pallor, Bruising susceptibility OMIM:227645
Congenital Total Pulmonary Venous Return Anomaly
Right ventricular failure, Tricuspid regurgitation, Pallor, Mitral regurgitation, Pulmonary arter... ORPHA:99125
Esophageal Atresia
Pallor ORPHA:1199
Diamond-Blackfan Anemia
Pallor, Elevated red cell adenosine deaminase activity ORPHA:124
Liver Disease, Severe Congenital
Intrahepatic cholestasis, Hepatic failure, Elevated circulating hepatic transaminase concentratio... OMIM:619991
Juvenile Polyposis Syndrome
Abnormal onset of bleeding, Gastrointestinal hemorrhage, Hematochezia, Epistaxis, Transient ische... ORPHA:2929
Sarcoidosis
Hepatic failure, Decreased liver function, Portal hypertension, Arrhythmia, Abnormal liver parenc... ORPHA:797
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Pallor OMIM:253280
Goodpasture Syndrome
Pulmonary hemorrhage, Pallor OMIM:233450
Pmm2-Cdg
Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Hypertrophic cardiomyo... ORPHA:79318

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 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.

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
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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