Gene Summary

eukaryotic translation initiation factor 2-alpha kinase 2
dsRNA-activated kinase,  Tik,  4732414G15Rik,  Prkr,  Pkr,  2310047A08Rik,  IFN-induced and double-stranded RNA-activated kinase,  IFN- type I-induced and dsRNA-activated kinase,  eIF-2 alpha

IMPC Data Collections

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.

Phenotype System Allele Zyg Sex Life Stage P Value
increased circulating calcium level Eif2ak2em1(IMPC)Mbp HOM Early adult 8.46×10-08
abnormal spleen morphology Eif2ak2em1(IMPC)Mbp HOM Early adult 0.00
small spleen Eif2ak2em1(IMPC)Mbp HOM Early adult 0.00
increased circulating serum albumin level Eif2ak2em1(IMPC)Mbp HOM Early adult 5.93×10-05

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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.

Phenotype associated images not available

Human diseases caused by Eif2ak2 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 Eif2ak2 by orthology or direct annotation.

Disease Similarity of
Matching phenotypes Source
Early-Onset Generalized Limb-Onset Dystonia
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome
Dystonia 33

The table below shows human diseases predicted to be associated to Eif2ak2 by phenotypic similarity.

Disease Similarity of
Matching phenotypes Source
Cephalin Lipidosis
Abnormality of the spleen OMIM:212800
Monocyte Chemotactic Disorder
Cutaneous anergy, Chronic mucocutaneous candidiasis OMIM:252250
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein
Recurrent bacterial infections, Recurrent protozoan infections, Abnormality of T cell physiology,... OMIM:308220
Tuftsin Deficiency
Abnormality of the spleen OMIM:191150
Immunodeficiency 18
Defective T cell proliferation, Recurrent respiratory infections, Recurrent gastroenteritis, Recu... OMIM:615615
Ulna Metaphyseal Dysplasia Syndrome
Hypercalcemia OMIM:191420
Blue Diaper Syndrome
Abnormal circulating tryptophan concentration, Hypercalcemia OMIM:211000
Hypercalcemia ORPHA:55881
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
Hypocalcemia, T lymphocytopenia DECIPHER:16
Candidiasis, Familial, 1
Cutaneous anergy, Recurrent viral infections, Chronic mucocutaneous candidiasis OMIM:114580
Granulomatous Slack Skin
Abnormal lymph node morphology, Hypercalcemia ORPHA:33111
Retinal Telangiectasia And Hypogammaglobulinemia
Reduced delayed hypersensitivity, Decreased circulating IgG level OMIM:267900
Hyperparathyroidism 1
Hypercalcemia OMIM:145000
Cholestasis, Progressive Familial Intrahepatic, 10
Increased total bilirubin, Jaundice, Acholic stools, Portal fibrosis, Increased serum bile acid c... OMIM:619868
Hypocalcemia, Autosomal Dominant 2
Abnormal blood phosphate concentration, Hypocalcemia OMIM:615361
Hypoparathyroidism, Familial Isolated, 2
Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures OMIM:618883
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Hepatic fibrosis, Jaundice, Elevated circulating gamma-aminobutyric acid concentration, Hepatic b... OMIM:619658
Parathyroid Carcinoma
Hypercalcemia OMIM:608266
Progressive Familial Intrahepatic Cholestasis
Jaundice, Cholestasis, Hepatomegaly, Hypocalcemia, Splenomegaly ORPHA:172
Hypomagnesemia 1, Intestinal
Hypocalcemia, Hypomagnesemia OMIM:602014
Nephropathy-Deafness-Hyperparathyroidism Syndrome
Anemia, Hypercalcemia ORPHA:2668
Hyperparathyroidism 4
Hypercalcemia OMIM:617343
Alpha-Heavy Chain Disease
Anemia, Lymphadenopathy, Hepatomegaly, Hypocalcemia, Splenomegaly ORPHA:100025
Diffuse Neonatal Hemangiomatosis
Anemia, Thrombocytopenia, Hypercalcemia, Hepatomegaly ORPHA:2123
Focal Segmental Glomerulosclerosis 1
Anemia, Hyperlipidemia, Hypoalbuminemia OMIM:603278
Rhabdoid Tumor
Anemia, Neoplasm of the liver, Lymphadenopathy, Hypercalcemia, Thrombocytopenia ORPHA:69077
Lipodystrophy, Congenital Generalized, Type 3
Hepatosplenomegaly, Hepatic steatosis, Hepatomegaly, Hypercholesterolemia, Hypocalcemia, Hypertri... OMIM:612526
Hypercalcemia, Infantile, 2
Hypophosphatemia, Hypercalcemia OMIM:616963
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency
Hypermethioninemia, Decreased hepatic echogenicity, Increased circulating creatine kinase MM isof... OMIM:613752
Pseudohypoparathyroidism, Type Ii
Hyperphosphatemia, Hypocalcemia OMIM:203330
Immunodeficiency 11
Recurrent respiratory infections, Decreased circulating antibody level, Pneumocystis jirovecii pn... OMIM:615206
Erythroderma, Lethal Congenital
Hypoalbuminemia OMIM:227090
Immunodeficiency 66
Defective T cell proliferation, Pustule, Meningitis, Recurrent skin infections, Sepsis OMIM:618847
Immunodeficiency 27A
Anemia, Hepatosplenomegaly, Lymphadenopathy, Thrombocytosis, Leukocytosis, Histiocytosis, Enlarge... OMIM:209950
Nephrotic Syndrome, Type 15
Hypoalbuminemia OMIM:617609
Small Cell Carcinoma Of The Bladder
Hypercalcemia ORPHA:284400
Caspase 8 Deficiency
Decreased T cell activation, Decreased circulating total IgM, Recurrent herpes, Eczema, Recurrent... OMIM:607271
Hypocalciuric Hypercalcemia, Familial, Type I
Hypercalcemia, Pancreatitis, Hypermagnesemia OMIM:145980
Nephrotic Syndrome, Type 2
Hyperlipidemia, Hypoalbuminemia OMIM:600995
Hyperparathyroidism 2 With Jaw Tumors
Pancreatic adenocarcinoma, Recurrent pancreatitis, Hypercalcemia OMIM:145001
Wiskott-Aldrich Syndrome 2
Defective T cell proliferation, Recurrent infections, Eczema, Reduced natural killer cell activity OMIM:614493
Myopathy, Tubular Aggregate, 2
Hypocalcemia, Elevated circulating creatine kinase concentration OMIM:615883
Diarrhea 7, Protein-Losing Enteropathy Type
Hypoalbuminemia, Hyperlipidemia, Hypercholesterolemia OMIM:615863
Hypocalciuric Hypercalcemia, Familial, Type Ii
Hypercalcemia, Pancreatitis, Hypermagnesemia OMIM:145981
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria
Hypercalcemia OMIM:239199
Anemia, Hypercalcemia ORPHA:436
Refractory Celiac Disease
Normocytic anemia, Hypophosphatemia, Abnormal spleen physiology, Increased proportion of HLA DR+ ... ORPHA:398063
Blue Diaper Syndrome
Hyperphosphatemia, Hypercalcemia ORPHA:94086
Autoinflammation With Infantile Enterocolitis
Reduced natural killer cell count, Anemia, Pancytopenia, Increased circulating ferritin concentra... OMIM:616050
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Hyperphosphatemia, Hypocalcemia, Hypomagnesemia, Hypocalcemic seizures ORPHA:2239
Lymphoproliferative Syndrome, X-Linked, 1
Fulminant hepatitis, Lymphocytosis, Pancytopenia, Lymphadenopathy, Thrombocytopenia, Hemophagocyt... OMIM:308240
Hepatoportal Sclerosis
Nodular regenerative hyperplasia of liver, Leukopenia, Anemia, Periportal fibrosis, Hypersplenism... ORPHA:64743
Thymic Neuroendocrine Tumor
Neoplasm of the thymus, Pancreatic islet cell adenoma, Hypercalcemia, Mediastinal lymphadenopathy... ORPHA:97289
Immunodeficiency, Common Variable, 2
Conjunctivitis, Bronchiectasis, Recurrent bronchitis, Recurrent sinusitis, Recurrent otitis media... OMIM:240500
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Hypoalbuminemia ORPHA:88643
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Hypoalbuminemia, Hypercholesterolemia OMIM:607250
Ceroid storage disease
Abnormality of the spleen OMIM:214200
Hemophagocytic Lymphohistiocytosis, Familial, 1
Increased total bilirubin, Leukopenia, Anemia, Increased VLDL cholesterol concentration, Jaundice... OMIM:267700
Hyperparathyroidism, Neonatal Severe
Anemia, Calcinosis, Hypophosphatemia, Hypercalcemia, Hepatomegaly, Splenomegaly OMIM:239200
Leukopenia, Anemia, Abnormal macrophage morphology, Pancytopenia, Lymphadenopathy, Hepatomegaly, ... ORPHA:507
Immunodeficiency 32B
Anemia, Monocytopenia, Neutrophilia, Eosinophilia, Hepatomegaly, Impaired oxidative burst, Thromb... OMIM:226990
Increased LDL cholesterol concentration, Hypoalbuminemia, Elevated circulating transferrin concen... OMIM:616000
Nephrotic Syndrome, Type 9
Hypoalbuminemia OMIM:615573
Hemochromatosis, Type 5
Anemia, Abnormal circulating copper concentration, Elevated transferrin saturation, Abnormal circ... OMIM:615517
Reticular Dysgenesis
Impaired T cell function, Lack of T cell function, Sepsis OMIM:267500
Macrophage Activation Syndrome
Abnormal natural killer cell count, Anemia, Hypertriglyceridemia, Hepatitis, Lymphadenopathy, Inc... ORPHA:158061
Immunodeficiency, Common Variable, 1
Conjunctivitis, Decreased circulating total IgM, Bronchiectasis, Recurrent bronchitis, Recurrent ... OMIM:607594
Hypercalcemia, Infantile, 1
Hypercalcemia OMIM:143880
Focal Segmental Glomerulosclerosis 6
Hypoalbuminemia OMIM:614131
Bare Lymphocyte Syndrome, Type Ii
Panhypogammaglobulinemia, Recurrent urinary tract infections, Chronic mucocutaneous candidiasis, ... OMIM:209920
Chylomicron Retention Disease
Hypocholesterolemia, Decreased LDL cholesterol concentration, Hypoalbuminemia, Hypotriglyceridemia OMIM:246700
Familial Isolated Hyperparathyroidism
Hypophosphatemia, Hypercalcemia ORPHA:99879
Oculoskeletodental Syndrome
Hypocalcemia, Hypercalcemia, Splenomegaly, Hepatomegaly OMIM:618440
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Hypercalcemia OMIM:614732
Triokinase And Fmn Cyclase Deficiency Syndrome
Hepatic steatosis, Hepatomegaly, Pancreatitis, Microcytic anemia, Hypoalbuminemia OMIM:618805
Mastocytosis, Hypercalcemia, Hepatomegaly, Acute leukemia, Splenomegaly, Chronic leukemia ORPHA:98292
Hypoparathyroidism, Familial Isolated, 1
Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures OMIM:146200
Coenzyme Q10 Deficiency, Primary, 3
Hypoalbuminemia OMIM:614652
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency
Hypercalcemia, Elevated creatine kinase after exercise ORPHA:284426
Refractory Anemia With Excess Blasts
Abnormal circulating albumin concentration, Acute myeloid leukemia, Abnormal mean corpuscular vol... ORPHA:86839
Uremic Pruritus
Increased blood urea nitrogen, Renal hypophosphatemia, Hypercalcemia, Hypermagnesemia ORPHA:94059
Oculoskeletodental Syndrome
Hypocalcemia, Hypercalcemia ORPHA:557003
Infantile Myofibromatosis
Neoplasm of the pancreas, Hypercalcemia ORPHA:2591
Congenital Enterocyte Heparan Sulfate Deficiency
Abnormal circulating polysaccharide concentration, Abnormal circulating protein concentration, Hy... ORPHA:103910
Hemophagocytic Lymphohistiocytosis, Familial, 2
Increased total bilirubin, Leukopenia, Anemia, Jaundice, Pancytopenia, Hepatosplenomegaly, Lympha... OMIM:603553
Hypocalciuric Hypercalcemia, Familial, Type Iii
Hypophosphatemia, Hypercalcemia, Pancreatitis, Hypermagnesemia OMIM:600740
Rajab Interstitial Lung Disease With Brain Calcifications 2
Hepatosplenomegaly, Hepatic steatosis, Hypertriglyceridemia, Microcytic anemia, Hypoalbuminemia OMIM:619013
Vitamin D-Dependent Rickets, Type 3
Hypophosphatemia, Hypocalcemia OMIM:619073
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Reduced natural killer cell count, Hypoplasia of the thymus, T lymphocytopenia, B lymphocytopenia... OMIM:619313
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Hypoalbuminemia, Hypercholesterolemia ORPHA:94124
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3
Hyperphosphatemia, Hypercalcemia OMIM:617994
Primary Intestinal Lymphangiectasia
Anemia, Reduced proportion of CD4+ effector memory T cells, Abnormal lymphatic vessel morphology,... ORPHA:90362
Hypocalcemia, Autosomal Dominant 1
Hyperphosphatemia, Hypokalemia, Increased circulating renin level, Hypocalcemia, Hypomagnesemia OMIM:601198
Hepatocellular Carcinoma
Anemia, Abnormality of the liver, Hyponatremia, Liver abscess, Hepatic necrosis, Jaundice, Hypoka... ORPHA:88673
Pseudohypoparathyroidism, Type Ib
Hyperphosphatemia, Hypocalcemia OMIM:603233
Pseudohypoparathyroidism Type 2
Hyperphosphatemia, Hypocalcemic tetany, Calcinosis, Hypocalcemic seizures, Hypocalcemia ORPHA:94090
Hypophosphatemic Rickets And Hyperparathyroidism
Hypophosphatemia, Hypophosphatemic rickets, Hypercalcemia OMIM:612089
Multiple Myeloma
Anemia, Lymphadenopathy, Hypercalcemia, Elevated circulating creatinine concentration, Hyperprote... ORPHA:29073
Hypophosphatasia, Infantile
Elevated plasma pyrophosphate, Anemia, Hypercalcemia OMIM:241500
Immunodeficiency 43
Reduced natural killer cell count, B lymphocytopenia, Hypoproteinemia, Decreased circulating beta... OMIM:241600
Glucose-Galactose Malabsorption
Hypernatremia, Hypercalcemia ORPHA:35710
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hyperlysinemia, Abnormal circulating lipid concentration, Hypergalactosemia, Hepatosplenomegaly, ... ORPHA:247598
Non-Functioning Paraganglioma
Hypercalcemia ORPHA:94080
Congenital Lethal Erythroderma
Hypoalbuminemia ORPHA:1954
Primary Membranoproliferative Glomerulonephritis
Hypoalbuminemia ORPHA:54370
Immunodeficiency By Defective Expression Of Mhc Class Ii
Recurrent fungal infections, Rhinitis, Panhypogammaglobulinemia, Lack of T cell function, Decreas... ORPHA:572
Nephrotic Syndrome, Type 3
Hypoalbuminemia OMIM:610725
Jaundice, Decreased LDL cholesterol concentration, Abnormality of the liver, Hypoalbuminemia ORPHA:79320
Gracile Bone Dysplasia
Asplenia, Hypoplastic spleen, Hypocalcemia OMIM:602361
Intermediate Osteopetrosis
Thrombocytopenia, Hypocalcemia, Anemia, Hepatosplenomegaly ORPHA:210110
Fibronectin Glomerulopathy
Hypoalbuminemia ORPHA:84090
Pheochromocytoma--Islet Cell Tumor Syndrome
Hypercalcemia OMIM:171420
Late-Onset Isolated Acth Deficiency
Hyperuricemia, Hepatitis, Normocytic anemia, Hyperkalemia, Hypercalcemia, Macrocytic anemia, Eosi... ORPHA:199299
Immunodeficiency 96
Decreased circulating total IgM, Defective T cell proliferation, Eczema, Recurrent otitis media, ... OMIM:619774
Paternal Uniparental Disomy Of Chromosome 1
Increased blood urea nitrogen, Episodic hemolytic anemia, Hypercalcemia ORPHA:251004
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Periportal fibrosis, Hepatocellular necrosis, Depletion of mitochondrial DNA in liver, Jaundice, ... OMIM:251880
Familial Hypocalciuric Hypercalcemia
Hypermagnesemia, Hypercalcemia, Hypocalcemic seizures, Renal hypophosphatemia, Pancreatitis ORPHA:405
Nephrotic Syndrome, Type 6
Hypoalbuminemia OMIM:614196
Portal hypertension, Hepatic fibrosis, Hepatomegaly, Hypoalbuminemia ORPHA:79319
Renal Tubular Acidosis, Distal, 1
Elevated circulating creatinine concentration, Hypokalemia, Hypocalcemia OMIM:179800
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive
Cirrhosis, Decreased circulating ceruloplasmin concentration, Decreased circulating copper concen... OMIM:242150
Thymic Aplasia
Opportunistic infection, Recurrent Staphylococcus aureus infections, Meningitis, Pneumonia, Sepsi... ORPHA:83471
Familial Hemophagocytic Lymphohistiocytosis
Anemia, Hypertriglyceridemia, Jaundice, Lymphadenopathy, Increased circulating ferritin concentra... ORPHA:540
Immunodeficiency With Hyper-Igm, Type 1
Sclerosing cholangitis, Meningitis, Impaired memory B cell generation, Sepsis, Decreased circulat... OMIM:308230
Congenital Disorder Of Glycosylation, Type Ib
Lymphangiectasis, Hepatic fibrosis, Cirrhosis, Hepatomegaly, Hypoalbuminemia OMIM:602579
Galloway-Mowat Syndrome 8
Hypoalbuminemia OMIM:618349
Eosinophilic Gastroenteritis
Anemia, Elevated circulating C-reactive protein concentration, Leukocytosis, Eosinophilia, Hypoal... ORPHA:2070
Autosomal Dominant Hypophosphatemic Rickets
Iron deficiency anemia, Hypophosphatemia, Hypocalcemia ORPHA:89937
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Anemia, Hypoproteinemia, Thrombocytosis, Hepatomegaly, Iron deficiency anemia, Intestinal lymphan... OMIM:226300
2P21 Microdeletion Syndrome
Hypocalcemia ORPHA:163693
Ataxia-Oculomotor Apraxia 4
Hypoalbuminemia, Elevated circulating alpha-fetoprotein concentration, Hypercholesterolemia OMIM:616267
X-Linked Agammaglobulinemia
Anemia, Hepatitis, Hypocalcemia, Abnormality of the lymphatic system, Abnormality of the tonsils,... ORPHA:47
Metaphyseal Chondrodysplasia, Jansen Type
Hypophosphatemia, Hypercalcemia OMIM:156400
Citrullinemia Type Ii
Hypercholesterolemia, Hepatic fibrosis, Hepatocellular carcinoma, Acute hyperammonemia, Hepatic s... ORPHA:247585
Monosomy 13Q34
Hepatic steatosis, Hypercalcemia ORPHA:96168
Wolcott-Rallison Syndrome
Abnormality of the liver, Lymphocytosis, Jaundice, Hyperbilirubinemia, Iron deficiency anemia, Hy... ORPHA:1667
Paget Disease Of Bone 2, Early-Onset
Hypercalcemia OMIM:602080
Chronic Bilirubin Encephalopathy
Hemolytic anemia, Neonatal hyperbilirubinemia, Prolonged neonatal jaundice, Hypernatremia, Hypoal... ORPHA:529808
Acute Bilirubin Encephalopathy
Hemolytic anemia, Neonatal hyperbilirubinemia, Prolonged neonatal jaundice, Hypernatremia, Hypoal... ORPHA:529799
Stormorken Syndrome
Asplenia, Anemia, Howell-Jolly bodies, Elevated circulating creatine kinase concentration, Thromb... OMIM:185070
Idiopathic Steroid-Resistant Nephrotic Syndrome
Abnormal circulating lipid concentration, Hypercholesterolemia, Peritonitis, Hypertriglyceridemia... ORPHA:567548
Acute Adrenal Insufficiency
Hyperuricemia, Normocytic anemia, Hyperkalemia, Increased circulating renin level, Hypercalcemia,... ORPHA:95409
Autosomal Recessive Kenny-Caffey Syndrome
Hypocalcemic tetany, Hypocalcemia, Hypocalcemic seizures ORPHA:93324
Congenital Disorder Of Glycosylation, Type Ih
Anemia, Cholestasis, Hepatomegaly, Elevated circulating creatinine concentration, Thrombocytopeni... OMIM:608104
Liver Failure, Infantile, Transient
Microvesicular hepatic steatosis, Jaundice, Hyperbilirubinemia, Hepatomegaly, Macrovesicular hepa... OMIM:613070
S-Adenosylhomocysteine Hydrolase Deficiency
Hypermethioninemia, Abnormality of the liver, Hyperhomocystinemia, Hepatocellular carcinoma, Elev... ORPHA:88618
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Cirrhosis, Hepatosplenomegaly, Hepatomegaly, Portal hypertension, Hypoalbuminemia ORPHA:367
Genetic Steroid-Resistant Nephrotic Syndrome
Peritonitis, Hypoalbuminemia ORPHA:656
Congenital Enterovirus Infection
Leukopenia, Anemia, Abnormal macrophage morphology, Hepatitis, Hyperammonemia, Cholestasis, Leuko... ORPHA:292
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Hypercholesterolemia, Hypoalbuminemia, Elevated circulating creatine kinase concentration OMIM:208920
Galloway-Mowat Syndrome 6
Hypoalbuminemia OMIM:618347
Autoimmune Hypoparathyroidism
Hypocalcemic tetany, Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures ORPHA:36913
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Recurrent opportunistic infections, Lack of T cell function, Decreased circulating total IgM, Dec... ORPHA:35078
Osteopetrosis, Autosomal Recessive 1
Anemia, Hypocalcemia, Pancytopenia, Hepatomegaly, Thrombocytopenia, Splenomegaly OMIM:259700
Addison Disease
Thymoma, Hyperuricemia, Normocytic anemia, Hyperkalemia, Increased circulating renin level, Thiam... ORPHA:85138
Intermittent jaundice, Extrahepatic cholestasis, Neoplasm of the thymus, Neoplasm of the pancreas... ORPHA:97261
Nephrotic Syndrome, Type 1
Hypoproteinemia, Hyperlipidemia, Hypoalbuminemia OMIM:256300
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Hypercholesterolemia, Hypoalbuminemia, Elevated circulating alpha-fetoprotein concentration, Elev... ORPHA:64753
Albers-Schönberg Osteopetrosis
Anemia, Abnormal leukocyte morphology, Hypocalcemia ORPHA:53
Intermittent jaundice, Extrahepatic cholestasis, Neoplasm of the pancreas, Neoplasm of the liver,... ORPHA:97282
Intermittent jaundice, Extrahepatic cholestasis, Neoplasm of the pancreas, Intrahepatic cholestas... ORPHA:97278
Ménétrier Disease
Hypochromic microcytic anemia, Hypoproteinemia, Hypoalbuminemia ORPHA:2494
Sporadic Pheochromocytoma/Secreting Paraganglioma
Hypercalcemia ORPHA:276621
Hypoalbuminemia ORPHA:79327
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Thyroid lymphangiectasia, Pulmonary lymphangiectasia, Pancreatic lymphangiectasis, Hypoproteinemi... OMIM:235255
Hyperphosphatemia, Hypocalcemia ORPHA:79445
Intermittent jaundice, Extrahepatic cholestasis, Neoplasm of the pancreas, Intrahepatic cholestas... ORPHA:97283
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Hypokalemia, Anemia, Hypocalcemia, Hypomagnesemia OMIM:175500
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Hypercalcemia ORPHA:476126
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Panhypogammaglobulinemia, Abnormality of B cell physiology, Recurrent otitis media, Cutaneous ane... OMIM:600802
Kenny-Caffey Syndrome, Type 1
Anemia, Hypocalcemia, Hypomagnesemia OMIM:244460
Colchicine Poisoning
Hypophosphatemia, Hypokalemia, Abnormal blood ion concentration, Leukocytosis, Hyponatremia, Hypo... ORPHA:31824
Congenital Analbuminemia
Increased alpha-globulin, Hypoproteinemia, Hyperlipidemia, Hypercholesterolemia, Hypoalbuminemia ORPHA:86816
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Decreased prealbumin level, Hepatitis, Neutropenia in presence of anti-neutropil antibodies, Abno... ORPHA:37042
Hypercalcemia OMIM:171300
Multiple Endocrine Neoplasia, Type I
Insulinoma, Pancreatic islet cell adenoma, Hypercalcemia OMIM:131100
Nephrotic Syndrome, Type 8
Hypoalbuminemia OMIM:615244
Avian Influenza
Leukopenia, Hepatitis, Lymphopenia, Elevated circulating creatine kinase concentration, Elevated ... ORPHA:454836
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Pulmonary lymphangiectasia, Hepatosplenomegaly, Pancreatic lymphangiectasis, Hypoproteinemia, Hep... ORPHA:1655
Nephrotic Syndrome, Type 14
Hypertriglyceridemia, Lymphopenia, Hypoalbuminemia OMIM:617575
Mucopolysaccharidosis-Plus Syndrome
Leukopenia, Anemia, Macrovesicular hepatic steatosis, Bone marrow hypocellularity, Hepatomegaly, ... OMIM:617303
Bartter Syndrome, Type 1, Antenatal
Increased serum prostaglandin E2, Hypokalemia, Increased circulating renin level, Hyperchloriduri... OMIM:601678
Intermittent jaundice, Extrahepatic cholestasis, Neoplasm of the pancreas, Normochromic anemia, I... ORPHA:97280
Timothy Syndrome
Hypocalcemia OMIM:601005
Pseudohypoparathyroidism, Type Ic
Hypocalcemic tetany, Hypocalcemia, Hyperphosphatemia OMIM:612462
Primary Biliary Cholangitis
Hepatic fibrosis, Biliary cirrhosis, Cirrhosis, Abnormal circulating lipid concentration, Hepatit... ORPHA:186
Familial Isolated Hypoparathyroidism
Hypocalcemia ORPHA:2238
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Hypermethioninemia, Cirrhosis, Microvesicular hepatic steatosis, Jaundice, Hyperbilirubinemia, Hy... OMIM:617156
Juvenile Polyposis Syndrome
Hypokalemia, Anemia, Hypoalbuminemia OMIM:174900
Hyperparathyroidism-Jaw Tumor Syndrome
Pancreatic adenocarcinoma, Hypophosphatemia, Hypercalcemia, Pancreatitis ORPHA:99880
Lissencephaly Syndrome, Norman-Roberts Type
Hypoplastic spleen ORPHA:89844
Ring Chromosome 10 Syndrome
Hypocalcemia ORPHA:1438
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Hypertriglyceridemia, Hypercalcemia ORPHA:369837
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2
Hypoalbuminemia OMIM:614441
Parathyroid Carcinoma
Pancreatic adenocarcinoma, Hypophosphatemia, Hypercalcemia, Pancreatitis ORPHA:143
Genetic Recurrent Myoglobinuria
Highly elevated creatine kinase, Hypocalcemia, Hyperkalemia, Hyperphosphatemia ORPHA:99845
Fibrous Dysplasia Of Bone
Hypophosphatemia, Hypercalcemia ORPHA:249
Multiple Endocrine Neoplasia Type 4
Thymoma, Extrahepatic cholestasis, Abnormality of pancreas physiology, Insulinoma, Hypercalcemia ORPHA:276152
Diarrhea 10, Protein-Losing Enteropathy Type
Hyponatremia, Hypocalcemia, Hypertriglyceridemia, Hypomagnesemia, Hypoalbuminemia OMIM:618183
Nephrotic Syndrome, Type 11
Hypoalbuminemia, Hypercholesterolemia OMIM:616730
Hereditary Pheochromocytoma-Paraganglioma
Hypercalcemia ORPHA:29072
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Increased circulating free fatty acid level, Jaundice, Elevated circulating creatine kinase conce... ORPHA:26793
Wilson Disease
Cirrhosis, Anemia, Hemolytic anemia, Jaundice, Decreased circulating ceruloplasmin concentration,... OMIM:277900
Aicardi-Goutieres Syndrome 9
Hepatic fibrosis, Anemia, Hemolytic anemia, Hepatosplenomegaly, Hepatic steatosis, Acute pancreat... OMIM:619487
Hypotonia-Cystinuria Syndrome
Hypocalcemia OMIM:606407
Osteopetrosis, Autosomal Recessive 5
Anemia, Hyperbilirubinemia, Extramedullary hematopoiesis, Hypocalcemia, Pancytopenia, Hepatosplen... OMIM:259720
Bacterial Toxic-Shock Syndrome
Hepatitis, Peritonitis, Increased circulating metamyelocyte count, Hypocalcemia, Elevated circula... ORPHA:36234
Trichohepatoenteric Syndrome 1
Hypermethioninemia, Hepatic fibrosis, Splenomegaly, Cirrhosis, Abnormality of the pancreas, Abnor... OMIM:222470
Mirage Syndrome
Leukopenia, Anemia, Hyperkalemia, Lymphopenia, Thrombocytopenia, Hyponatremia, Hypoplastic spleen OMIM:617053
Multiple Endocrine Neoplasia Type 2
Neoplasm of the liver, Hypercalcemia, Cervical lymphadenopathy ORPHA:653
Zollinger-Ellison Syndrome
Jaundice, Extrahepatic cholestasis, Hypercalcemia ORPHA:913
Amoebiasis Due To Entamoeba Histolytica
Liver abscess, Anemia, Leukocytosis, Hypoalbuminemia ORPHA:67
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Hypophosphatemia, Hypocalcemia OMIM:600081
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures OMIM:241410
Pearson Syndrome
Anemia, Hyperalaninemia, Abnormality of the liver, Hypophosphatemia, Hypokalemia, Hypocalcemia, M... ORPHA:699
Neuroleptic Malignant Syndrome
Hyperphosphatemia, Hyperuricemia, Hypocalcemia, Hyperkalemia, Elevated circulating creatine kinas... ORPHA:94093
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Calcinosis, Hypokalemia, Hyponatremia, Hypocalcemia, Splenomegaly OMIM:617913
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Hypophosphatemia, Hypocalcemia, Hypocalcemic seizures OMIM:264700
Double Outlet Right Ventricle
Aplasia/Hypoplasia of the thymus, Hypocalcemia ORPHA:3426
Primary Sclerosing Cholangitis
Hepatic fibrosis, Cirrhosis, Hepatitis, Jaundice, Pancreatitis, Cholangiocarcinoma, Hepatocellula... ORPHA:171
Combined Oxidative Phosphorylation Deficiency 37
Hyperalaninemia, Bile duct proliferation, Macrovesicular hepatic steatosis, Hypoalbuminemia OMIM:618329
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Thyroid lymphangiectasia, Pulmonary lymphangiectasia, Pericardial lymphangiectasia, Intestinal ly... OMIM:235510
Hepatic fibrosis, Cirrhosis, Anemia, Decreased LDL cholesterol concentration, Hyperbilirubinemia,... ORPHA:14
Pseudohypoparathyroidism Type 1B
Hypocalcemic tetany, Hyperphosphatemia, Calcinosis, Hypocalcemic seizures, Hypocalcemia ORPHA:94089
Kenny-Caffey Syndrome, Type 2
Anemia, Hypocalcemia, Hyperphosphatemia, Transient hypophosphatemia OMIM:127000
Dahlberg-Borer-Newcomer Syndrome
Hypocalcemia ORPHA:1563
Abnormal lymph node morphology, Leukopenia, Anemia, Hemolytic anemia, Increased T cell count, Lym... ORPHA:797
Al Amyloidosis
Anemia, Howell-Jolly bodies, Abnormality of the liver, Increased circulating NT-proBNP concentrat... ORPHA:85443
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form
Anemia, Decreased plasma carnitine, Decreased serum iron, Abnormal circulating selenium concentra... ORPHA:89842
Hypocalcemic Vitamin D-Resistant Rickets
Hypophosphatemia, Hypocalcemia ORPHA:93160
Leigh Syndrome With Nephrotic Syndrome
Hypoalbuminemia ORPHA:255249
Hypophosphatemic Rickets
Hypophosphatemia, Hypercalcemia ORPHA:437
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome
Hypocalcemic tetany, Hepatic calcification, Hypocalcemia, Hypomagnesemia ORPHA:73224
Hypokalemia, Hypocalcemia, Abnormal blood ion concentration, Hyponatremia ORPHA:173
Congenital Disorder Of Glycosylation, Type Ia
Hepatic fibrosis, Hepatic steatosis, Thrombocytosis, Hepatomegaly, Hypocholesterolemia, Hypoalbum... OMIM:212065
Mitochondrial Trifunctional Protein Deficiency
Hypocalcemia, Diffuse hepatic steatosis, Cholestasis ORPHA:746
Congenital Disorder Of Glycosylation, Type Ig
Hypocalcemia OMIM:607143
Hypocalcemic Vitamin D-Dependent Rickets
Hypophosphatemia, Hypocalcemia, Hypocalcemic seizures ORPHA:289157
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Thrombocytopenia, Normochromic anemia, Hypoalbuminemia OMIM:254900
Igg4-Related Thyroid Disease
Sclerosing cholangitis, Pancreatic fibrosis, Hypocalcemia, Retroperitoneal fibrosis ORPHA:64744
Oncogenic Osteomalacia
Hypophosphatemia, Hypocalcemia ORPHA:352540
Multiple Endocrine Neoplasia Type 1
Thymoma, Neoplasm of the pancreas, Hypercalcemia, Insulinoma ORPHA:652
Immunodeficiency 82 With Systemic Inflammation
Anemia, Reduced natural killer cell count, T lymphocytopenia, B lymphocytopenia, Hepatitis, Decre... OMIM:619381
Juvenile Nephropathic Cystinosis
Hypocalcemic tetany, Hypophosphatemia, Hypokalemia, Hyponatremia, Elevated circulating creatinine... ORPHA:411634
Sanjad-Sakati Syndrome
Hypocalcemia, Hyperphosphatemia ORPHA:2323
B lymphocytopenia, Hyponatremia, Hypocholesterolemia, Thrombocytopenia, Hypoalbuminemia ORPHA:79324
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Leukopenia, Anemia, Hepatosplenomegaly, Bone marrow hypocellularity, Thrombocytopenia, Hypoalbumi... ORPHA:505248
Marburg Hemorrhagic Fever
Leukopenia, Elevated circulating creatinine concentration, Jaundice, Hypokalemia, Reticulocytosis... ORPHA:99826
Celiac Disease, Susceptibility To, 1
Iron deficiency anemia, Hypocalcemia, Thrombocytosis, Macrocytic anemia OMIM:212750
Secondary Intestinal Lymphangiectasia
Cirrhosis, Decreased prealbumin level, Reduced circulating transferrin concentration, Lymphopenia... ORPHA:90363
Visceral Steatosis, Congenital
Hepatic steatosis, Jaundice, Hypocalcemia OMIM:228100
Rajab Interstitial Lung Disease With Brain Calcifications 1
Cirrhosis, Anemia, Unconjugated hyperbilirubinemia, Hypocalcemia, Pancytopenia, Hepatic steatosis... OMIM:613658
Car T Cell Therapy-Associated Cytokine Release Syndrome
Increased circulating interleukin 6 concentration, Abnormality of serum cytokine level, Skin rash... ORPHA:542323
Hennekam Syndrome
Pulmonary lymphangiectasia, Lymphopenia, Lymphadenopathy, Hypocalcemia, Splenomegaly, Lymphangioma ORPHA:2136
Autosomal Recessive Malignant Osteopetrosis
Anemia, Hypophosphatemia, Lymphadenopathy, Hepatomegaly, Hypocalcemia, Splenomegaly ORPHA:667
Osteopetrosis With Renal Tubular Acidosis
Leukopenia, Anemia, Elliptocytosis, Enlarged tonsils, Hypocalcemia, Pancytopenia, Elevated circul... ORPHA:2785
Insulin-Resistance Syndrome Type B
Leukopenia, Biliary cirrhosis, Abnormal circulating lipid concentration, Abnormal circulating fat... ORPHA:2298
Pseudohypoparathyroidism Type 1C
Hypocalcemic tetany, Hyperphosphatemia, Calcinosis, Hypocalcemic seizures, Hypocalcemia ORPHA:79444
Mitochondrial Complex Iv Deficiency, Nuclear Type 12
Hypoalbuminemia, Elevated circulating creatine kinase concentration OMIM:619055
Liver Disease, Severe Congenital
Portal inflammation, Elevated circulating alpha-fetoprotein concentration, Hepatic steatosis, Hep... OMIM:619991
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Hypocalcemia OMIM:618476
Williams Syndrome
Abnormal circulating lipid concentration, Hypercalcemia, Cholelithiasis, Elevated circulating cre... ORPHA:904
Autosomal Dominant Hypocalcemia
Hypocalcemia, Hypomagnesemia, Hyperphosphatemia ORPHA:428
Xfe Progeroid Syndrome
Hypoalbuminemia OMIM:610965
Isotretinoin-Like Syndrome
Hypocalcemia, Lymphopenia ORPHA:2306
Galloway-Mowat Syndrome 3
Hypoalbuminemia OMIM:617729
Pseudohypoparathyroidism Type 1A
Hypocalcemic tetany, Hyperphosphatemia, Calcinosis, Hypocalcemic seizures, Hypocalcemia ORPHA:79443
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Hyperlipidemia, Hypoalbuminemia ORPHA:567546
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Anemia, Hypoalbuminemia ORPHA:79396
Cartilage-Hair Hypoplasia
Anemia, Abnormality of the pancreas, Hepatomegaly, Hypocalcemia, Neutropenia ORPHA:175
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Absent gallbladder, Anemia, Hyperbilirubinemia, Hypocalcemia, Thrombocytopenia ORPHA:163979
Infection-Related Hemolytic Uremic Syndrome
Hemolytic anemia, Hypocalcemia, Hyperkalemia, Leukocytosis, Hyponatremia, Thrombocytopenia, Pancr... ORPHA:544482
Pseudohypoparathyroidism, Type Ia
Hypocalcemic tetany, Hyperphosphatemia OMIM:103580
Williams-Beuren Syndrome
Portal hypertension, Hypercalcemia OMIM:194050
Galloway-Mowat Syndrome 1
Hypoalbuminemia OMIM:251300
Juvenile Polyposis Of Infancy
Anemia, Refractory anemia, Hypoalbuminemia ORPHA:79076
Ethylene Glycol Poisoning
Hypocalcemia, Hyperkalemia ORPHA:31826
Microphthalmia, Syndromic 9
Hypoplastic spleen, Multilobulated spleen OMIM:601186
Exercise-Induced Malignant Hyperthermia
Hyperphosphatemia, Hypocalcemia, Hyperkalemia, Elevated circulating creatine kinase concentration... ORPHA:466650
Craniofacioskeletal Syndrome
Absent gallbladder, Hypocalcemia OMIM:300712
Smith-Lemli-Opitz Syndrome
Cirrhosis, Hepatic steatosis, Hepatomegaly, Cholestatic liver disease, Hypocholesterolemia, Eleva... OMIM:270400
Gitelman Syndrome
Hypokalemia, Neoplasm of the pancreas, Hypermagnesemia, Iron deficiency anemia, Hypocalcemia, Hyp... ORPHA:358
Sotos Syndrome
Prolonged neonatal jaundice, Acute lymphoblastic leukemia, Hypercalcemia ORPHA:821
Cranioectodermal Dysplasia 1
Hepatic fibrosis, Malformation of the hepatic ductal plate, Hepatomegaly, Hepatic cysts, Hypocalc... OMIM:218330
Biliary, Renal, Neurologic, And Skeletal Syndrome
Hepatic fibrosis, Biliary cirrhosis, Cirrhosis, Jaundice, Intrahepatic bile duct dilatation, Hype... OMIM:619534
22Q11.2 Deletion Syndrome
Hypoplasia of the thymus, Hypocalcemia, Abnormality of the tonsils, Cholelithiasis, Thrombocytope... ORPHA:567
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Hypocalcemia, Hypocalcemic seizures ORPHA:2237
Velocardiofacial Syndrome
Hypocalcemia OMIM:192430
Autosomal Dominant Kenny-Caffey Syndrome
Hypocalcemic seizures, Anemia, Hyperphosphatemia, Hypocalcemic tetany ORPHA:93325
Digeorge Syndrome
Anemia, Hypoplasia of the thymus, Hypocalcemia, Hepatic steatosis, Abnormality of the thymus, Cho... OMIM:188400
Tropical Endomyocardial Fibrosis
Hypoalbuminemia, Splenomegaly, Eosinophilia, Hepatomegaly ORPHA:75565
Acrodysostosis With Multiple Hormone Resistance
Hypocalcemia, Hyperphosphatemia ORPHA:280651
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Hemolytic anemia, Hypocalcemia, Hepatosplenomegaly, Hepatic steatosis, Cholestasis, Portal hypert... OMIM:619503
Autosomal Recessive Hypophosphatemic Rickets
Hypocalcemic tetany, Hypophosphatemic rickets, Renal hypophosphatemia ORPHA:289176
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome
Hypoalbuminemia OMIM:614748
Charge Syndrome
Aplasia/Hypoplasia of the thymus, Hypocalcemia, Lymphopenia OMIM:214800
Johanson-Blizzard Syndrome
Exocrine pancreatic insufficiency, Hypocalcemia, Increased VLDL cholesterol concentration, Choles... OMIM:243800
Hepatic fibrosis, Abnormal liver parenchyma morphology, Impaired neutrophil chemotaxis, Reduced t... ORPHA:79318
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome
Early-Onset Generalized Limb-Onset Dystonia
Dystonia 33


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 Eif2ak2

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 Eif2ak2.

No publications found that use IMPC mice or data for Eif2ak2.

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MGI Allele Allele Type Produced
Eif2ak2em1(IMPC)Mbp Exon Deletion Mice, Tissue
Eif2ak2tm284228(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Eif2ak2tm1(NCOM)Mfgc Reporter-tagged deletion allele (with selection cassette) Targeting vectors, ES Cells
Eif2ak2tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells

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