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 8
Synonyms:
JNK1,  c-Jun N-terminal kinase,  Prkm8

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

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 Mapk8 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 Mapk8 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Monocyte Chemotactic Disorder
Cutaneous anergy OMIM:252250
Retinal Telangiectasia And Hypogammaglobulinemia
Reduced delayed hypersensitivity, Decreased circulating IgG level OMIM:267900
Retinal Dysplasia, Primary
Falciform retinal fold, Retinal dysplasia OMIM:312550
Keratosis, Focal Palmoplantar And Gingival
Gingival hyperkeratosis, Subungual hyperkeratosis, Focal friction-related palmoplantar hyperkerat... OMIM:148730
Pa Polymorphism Of Alpha-2-Globulin
Abnormal immunoglobulin level OMIM:260100
Hereditary Palmoplantar Keratoderma, Gamborg-Nielsen Type
Hyperkeratosis with erythema, Diffuse palmoplantar hyperkeratosis ORPHA:86923
Ichthyosis Hystrix, Lambert Type
Orthokeratotic hyperkeratosis, Hyperkeratosis OMIM:146600
Hyperkeratosis Lenticularis Perstans
Hyperkeratosis lenticularis perstans OMIM:144150
Angioma Serpiginosum, Autosomal Dominant
Hyperkeratosis OMIM:106050
Papillomatosis, Confluent And Reticulated
Hyperkeratosis OMIM:167900
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein
Abnormality of T cell physiology OMIM:308220
Deoxyribose-5-Phosphate Aldolase Deficiency
Abnormal circulating enzyme concentration or activity OMIM:125460
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Large for gestational age, Neonatal hypoglycemia, Fasting hypoglycemia, Hypoinsulinemia, Obesity,... OMIM:240900
Reticulate Acropigmentation Of Kitamura
Hyperkeratosis OMIM:615537
Palmoplantar Keratoderma, Nonepidermolytic, Focal 1
Palmoplantar keratoderma, Perioral hyperkeratosis, Follicular hyperkeratosis OMIM:613000
Transient Neonatal Diabetes Mellitus
Maturity-onset diabetes of the young, Maternal diabetes, Hypoinsulinemia, Hypothyroidism, Failure... ORPHA:99886
Choroidal Dystrophy, Central Areolar, 1
Chorioretinal atrophy, Choriocapillaris atrophy, Pigmentary retinopathy OMIM:215500
Candidiasis, Familial, 1
Cutaneous anergy OMIM:114580
Palmoplantar Keratoderma-Deafness Syndrome
Palmoplantar keratoderma, Hyperkeratosis ORPHA:2202
Palmoplantar Keratoderma, Punctate Type Iii
Hyperkeratosis OMIM:101850
Dermatoleukodystrophy
Hyperkeratosis ORPHA:1659
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Hypoglycemic seizures, Neonatal hypoglycemia, Large for gestational age, Hypoketotic hypoglycemia... ORPHA:293964
Left Ventricular Noncompaction 7
Left ventricular noncompaction cardiomyopathy, Left ventricular noncompaction OMIM:615092
Multiple Symmetric Lipomatosis
Insulin resistance, Multiple lipomas, Abnormal adipose tissue morphology ORPHA:2398
Hyperinsulinemic Hypoglycemia, Familial, 3
Hypoglycemic seizures, Diabetes mellitus, Hyperinsulinemic hypoglycemia OMIM:602485
Hyperinsulinemic Hypoglycemia, Familial, 5
Hypoglycemic seizures, Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia, Elevated circulat... OMIM:609968
Immunodeficiency 24
Defective T cell proliferation, Partial absence of specific antibody response to tetanus vaccine,... OMIM:615897
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemic seizures, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemia, Pancreatic ... OMIM:610021
Obesity Due To Melanocortin 4 Receptor Deficiency
Childhood-onset truncal obesity, Hyperinsulinemia, Increased adipose tissue, Obesity, Type II dia... ORPHA:71529
Night Blindness, Congenital Stationary, Type 1D
Congenital stationary night blindness, Attenuation of retinal blood vessels, Macular atrophy, Pig... OMIM:613830
Cardiomyopathy, Dilated, 1R
Congestive heart failure, Restrictive cardiomyopathy, Ventricular arrhythmia, Cardiomyocyte hyper... OMIM:613424
Short Stature Due To Ghsr Deficiency
Delayed puberty, Abnormality of body weight, Decreased body weight, Decreased serum insulin-like ... ORPHA:314811
Short Stature Due To Partial Ghr Deficiency
Delayed puberty, Hypoglycemia, Decreased serum insulin-like growth factor 1 ORPHA:314802
Hyperinsulinemic Hypoglycemia, Familial, 1
Hypoglycemic seizures, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia, Large fo... OMIM:256450
Hyperinsulinemic Hypoglycemia, Familial, 2
Hyperinsulinemic hypoglycemia, Hypoglycemia, Pancreatic islet-cell hyperplasia, Large for gestati... OMIM:601820
Hyperinsulinism Due To Insr Deficiency
Hyperinsulinemic hypoglycemia, Hypoglycemia, Recurrent hypoglycemia, Insulin resistance, Fasting ... ORPHA:263458
Obesity Due To Prohormone Convertase I Deficiency
Delayed puberty, Hypoglycemic seizures, Decreased response to growth hormone stimulation test, Hy... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Delayed puberty, Hypoglycemic seizures, Decreased response to growth hormone stimulation test, Hy... ORPHA:71526
Congenital Glucokinase-Related Hyperinsulinism
Hypoketotic hypoglycemia, Type II diabetes mellitus, Recurrent hypoglycemia, Hyperinsulinemic hyp... ORPHA:79299
Left Ventricular Noncompaction 10
Congestive heart failure, Pulmonary arterial hypertension, Syncope, Increased left ventricular en... OMIM:615396
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Congestive heart failure, Endocardial fibrosis, Left bundle branch block, Ventricular arrhythmia,... OMIM:601493
Plin1-Related Familial Partial Lipodystrophy
Lipoatrophy, Hyperinsulinemia, Loss of gluteal subcutaneous adipose tissue, Abnormal circulating ... ORPHA:280356
Reticular Dysgenesis
Lack of T cell function, Impaired T cell function OMIM:267500
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Cutaneous anergy OMIM:183350
Insulin Autoimmune Syndrome
Hyperinsulinemic hypoglycemia, Fasting hypoglycemia, Nonketotic hypoglycemia, Weight loss, Insuli... ORPHA:411593
Hyperinsulinemic Hypoglycemia, Familial, 4
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:609975
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Elevated circulating thyroid-stimulating hormone concentration, Increased circulating T4 concentr... ORPHA:171706
Familial Partial Lipodystrophy, Köbberling Type
Lipoatrophy, Insulin resistance, Diabetes mellitus, Hyperinsulinemia ORPHA:79084
Left Ventricular Noncompaction 8
Congestive heart failure, Left ventricular systolic dysfunction, Arrhythmia, Dilated cardiomyopat... OMIM:615373
Cardiomyopathy, Dilated, 1Gg
Congestive heart failure, Reduced left ventricular ejection fraction, Cardiogenic shock, Dilated ... OMIM:613642
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency
Hypoglycemia ORPHA:35701
Immunodeficiency 11A
Agammaglobulinemia, Decreased circulating antibody level, Reduced antigen-specific T cell prolife... OMIM:615206
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Endocardial fibrosis, Atrial fibrillation, Supraventricular tachycardia, Cardiac arrest, Hypertro... OMIM:612158
Proprotein Convertase 1/3 Deficiency
Hypoinsulinemia, Elevated circulating proinsulin concentration, Obesity, Decreased circulating co... OMIM:600955
Mody
Large for gestational age, Neonatal hypoglycemia, Hypoinsulinemia, Abnormal circulating insulin c... ORPHA:552
Lipodystrophy, Familial Partial, Type 3
Hyperinsulinemia, Loss of gluteal subcutaneous adipose tissue, Maternal diabetes, Loss of subcuta... OMIM:604367
Insulinomatosis And Diabetes Mellitus
Impaired glucose tolerance, Insulinoma, Type II diabetes mellitus, Hyperinsulinemic hypoglycemia,... OMIM:147630
Isolated Growth Hormone Deficiency, Type Ia
Reduced circulating growth hormone concentration, Hypoglycemia, Decreased serum insulin-like grow... OMIM:262400
Wiskott-Aldrich Syndrome 2
Defective T cell proliferation, Reduced natural killer cell activity OMIM:614493
Hyperproinsulinemia
Hyperinsulinemia, Hyperglycemia OMIM:616214
Immunodeficiency With Hyper-Igm, Type 3
Decreased circulating IgE, Impaired Ig class switch recombination, Decreased circulating IgG leve... OMIM:606843
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1
Delayed puberty, Delayed thelarche, Low anterior hairline, Dorsocervical fat pad, Hyperinsulinemi... OMIM:616033
Polyendocrine-Polyneuropathy Syndrome
Decreased circulating follicle stimulating hormone concentration, Decreased circulating luteinizi... ORPHA:453533
Left Ventricular Noncompaction 1
Congestive heart failure, Palpitations, Atrial fibrillation, Noncompaction cardiomyopathy, Ventri... OMIM:604169
Caspase 8 Deficiency
Reduced CD95-induced lymphocyte apoptosis, Complete or near-complete absence of specific antibody... OMIM:607271
Hyperinsulinism Due To Hnf1A Deficiency
Hypoglycemic seizures, Neonatal hypoglycemia, Hyperinsulinemia, Maturity-onset diabetes of the yo... ORPHA:324575
Body Mass Index Quantitative Trait Locus 19
Hyperinsulinemia, Polyphagia, Obesity, Increased serum leptin, Insulin resistance OMIM:617885
Akt2-Related Familial Partial Lipodystrophy
Hepatomegaly, Decreased serum leptin, Increased intraabdominal fat, Lipodystrophy, Decreased adip... ORPHA:79085
Hyperinsulinemic Hypoglycemia, Familial, 6
Hypoglycemic seizures, Failure to thrive, Hyperinsulinemic hypoglycemia, Abnormality of the pancr... OMIM:606762
Epidermolytic Hyperkeratosis 2A, Autosomal Dominant
Generalized hyperkeratosis, Hyperkeratosis, Cobblestone-like hyperkeratosis, Palmoplantar hyperke... OMIM:620150
Lipase Deficiency, Combined
Type II diabetes mellitus, Lipodystrophy OMIM:246650
Dwarfism, Low-Birth-Weight Type, With Unresponsiveness To Growth Hormone
Hypoglycemia OMIM:223500
Pituitary Hormone Deficiency, Combined, 4
Hypothyroidism, Impaired growth-hormone response to insulin stimulation test, Hypoglycemia, Adren... OMIM:262700
Lipe-Related Familial Partial Lipodystrophy
Hepatomegaly, Loss of gluteal subcutaneous adipose tissue, Increased adipose tissue around the ne... ORPHA:435660
Cidec-Related Familial Partial Lipodystrophy
Hepatomegaly, Pancreatitis, Loss of gluteal subcutaneous adipose tissue, Loss of subcutaneous adi... ORPHA:435651
Homozygous 11P15-P14 Deletion Syndrome
Failure to thrive, Hypoglycemia, Hyperinsulinemia OMIM:606528
Hypoglycemia, Leucine-Induced
Hyperinsulinemic hypoglycemia, Hypoglycemia OMIM:240800
Leptin Deficiency Or Dysfunction
Decreased serum leptin, Polyphagia, Obesity, Hypogonadism OMIM:614962
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin
Decreased circulating IgA level OMIM:235500
Fructose And Galactose Intolerance
Hypoglycemia OMIM:229500
Obesity Due To Congenital Leptin Deficiency
Absence of secondary sex characteristics, Hyperinsulinemia, Hypoplasia of the ovary, Decreased se... ORPHA:66628
Glycogen Storage Disease 0, Liver
Neonatal hypoglycemia, Postprandial hyperglycemia, Fasting hypoglycemia OMIM:240600
Obesity Due To Leptin Receptor Gene Deficiency
Absence of secondary sex characteristics, Hyperinsulinemia, Hypoplasia of the ovary, Decreased se... ORPHA:179494
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hypoglycemic seizures, Large for gestational age, Hyperinsulinemia, Maternal diabetes, Diffuse pa... ORPHA:276580
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Glucose intolerance, Hyperglycemia, Male hypogonadism, Hypergonadotropic hypogonadism OMIM:307500
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Hyperinsulinemia, Fasting hypoglycemia, Hypoketotic hypoglycemia, Increased body weight, Hyperins... ORPHA:276608
Immunodeficiency 66
Defective T cell proliferation OMIM:618847
Lipodystrophy, Familial Partial, Type 5
Hepatomegaly, Decreased serum leptin, Lipodystrophy, Decreased adiponectin level, Diabetic ketoac... OMIM:615238
Woolly Hair-Skin Fragility Syndrome
Palmoplantar keratoderma, Acantholysis OMIM:620415
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Hyperinsulinemia, Fasting hypoglycemia, Small for gestational age, Precocious puberty, Hyperglyce... OMIM:262190
Porokeratosis 7, Multiple Types
Parakeratosis OMIM:614714
Porokeratosis 1, Multiple Types
Parakeratosis OMIM:175800
Obesity And Hypopigmentation
Obesity, Hyperinsulinemia, Red hair OMIM:620195
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial
Hypoglycemia, Impaired gluconeogenesis OMIM:261650
Hyperinsulinism-Hyperammonemia Syndrome
Hyperinsulinemic hypoglycemia, Fasting hyperinsulinemia, Reactive hypoglycemia ORPHA:35878
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hypoglycemic seizures, Large for gestational age, Hyperinsulinemia, Diffuse pancreatic islet hype... ORPHA:276575
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Obesity, Hyperinsulinemia ORPHA:329249
Griscelli Syndrome, Type 2
Reduced delayed hypersensitivity OMIM:607624
Obesity Due To Sim1 Deficiency
Hyperinsulinemia, Polyphagia, Obesity, Attention deficit hyperactivity disorder, Glucose intolerance ORPHA:369873
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Hypoglycemia ORPHA:366
Hyperinsulinemic Hypoglycemia, Familial, 8
Elevated circulating thyroid-stimulating hormone concentration, Hypoglycemic seizures, Hyperinsul... OMIM:620211
Mandibuloacral Dysplasia
Lipoatrophy, Hyperinsulinemia, Glucose intolerance, Loss of subcutaneous adipose tissue in limbs,... ORPHA:2457
Lipodystrophy, Familial Partial, Type 2
Increased intramuscular fat, Hyperinsulinemia, Loss of truncal subcutaneous adipose tissue, Loss ... OMIM:151660
Body Mass Index Quantitative Trait Locus 20
Obesity, Hyperinsulinemia OMIM:618406
Insulin-Resistance Syndrome Type B
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Increased serum testosterone level, Fasting hypo... ORPHA:2298
Cardiomyopathy, Dilated, 1D
Congestive heart failure, Prolonged QT interval, Reduced left ventricular ejection fraction, Inco... OMIM:601494
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Reduced delayed hypersensitivity, Increased circulating IgE level, Increased circulating IgM leve... OMIM:617241
Immunodeficiency 18
Defective T cell proliferation, Decreased circulating total IgA, Decreased circulating total IgM,... OMIM:615615
Bdv Syndrome
Delayed puberty, Hyperinsulinemia, Decreased thyroid-stimulating hormone level, Reduced TSH respo... OMIM:619326
Severe Neurodegenerative Syndrome With Lipodystrophy
Generalized lipodystrophy, Hyperinsulinemia, Reduced subcutaneous adipose tissue, Generalized hir... ORPHA:363400
Reese Retinal Dysplasia
Remnants of the hyaloid vascular system, Retinal dysplasia OMIM:266400
Atrial Standstill
Bradycardia, Cardiomyopathy, Abnormal heart morphology, Mobitz I atrioventricular block, Ventricu... ORPHA:1344
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Hyperinsulinemia, Hypergonadotropic hypogonadism, Obesity, Type II diabetes mellitus, Keloids ORPHA:3085
Immunodeficiency, Common Variable, 2
Partial absence of specific antibody response to unconjugated pneumococcus vaccine, Impaired T ce... OMIM:240500
Hyperinsulinism Due To Ucp2 Deficiency
Hypoglycemic seizures, Large for gestational age, Diffuse pancreatic islet hyperplasia, Hypoketot... ORPHA:276556
Insulinoma
Hyperinsulinemia, Neoplasm of the adrenal gland, Increased body weight, Primary hyperparathyroidi... ORPHA:97279
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Large for gestational age, Neonatal hypoglycemia, Diffuse pancreatic islet hyperplasia, Abnormal ... ORPHA:79644
Mandibuloacral Dysplasia With Type B Lipodystrophy
Decreased adipose tissue around neck, Generalized lipodystrophy, Hyperinsulinemia, Loss of trunca... OMIM:608612
Pituitary Hormone Deficiency, Combined, 2
Hypoglycemic seizures, Neonatal hypoglycemia, Decreased thyroid-stimulating hormone level, Reduce... OMIM:262600
Estrogen Resistance
Delayed puberty, Increased circulating osteocalcin level, Hyperinsulinemia, Breast aplasia, Impai... OMIM:615363
Congenital Generalized Lipodystrophy
Hyperinsulinemia, Precocious puberty in females, Low posterior hairline, Failure to thrive, Adipo... ORPHA:528
Sick Sinus Syndrome 2
Paroxysmal atrial fibrillation, Sick sinus syndrome, Aortic regurgitation, Atrial fibrillation, P... OMIM:163800
Solitary Fibrous Tumor
Hypoglycemia, Hypoinsulinemia, Weight loss, Recurrent hypoglycemia ORPHA:2126
Glucocorticoid Deficiency 3
Abnormal circulating renin, Decreased circulating cortisol level, Decreased circulating aldostero... OMIM:609197
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Lipoatrophy, Hepatomegaly, Pancreatitis, Increased facial adipose tissue, Loss of subcutaneous ad... ORPHA:280365
Donohue Syndrome
Hyperinsulinemia, Severe failure to thrive, Fasting hypoglycemia, Precocious puberty, Hyperglycem... OMIM:246200
Immunodeficiency, Common Variable, 1
Decreased circulating total IgM, Decreased circulating IgA level, Decreased circulating IgG level... OMIM:607594
Lipodystrophy, Congenital Generalized, Type 1
Cirrhosis, Hyperinsulinemia, Hepatomegaly, Decreased serum leptin, Acute pancreatitis, Polyphagia... OMIM:608594
Long Qt Syndrome 15
2:1 atrioventricular block, Polymorphic ventricular tachycardia, Ventricular bigeminy, Bradycardi... OMIM:616249
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Decreased specific anti-polysaccharide antibody level, Decreased T cell activation, Decreased CD6... OMIM:300853
Tenorio Syndrome
Hypoglycemia, Hypoinsulinemia, Thick eyebrow, Hypertrichosis OMIM:616260
Glucocorticoid Resistance, Generalized
Increased circulating androstenedione concentration, Increased serum testosterone level, Hirsutis... OMIM:615962
Coloboma Of Optic Nerve
Retinal detachment, Optic disc coloboma OMIM:120430
Pituitary Hormone Deficiency, Combined, 6
Neonatal hypoglycemia, Decreased thyroid-stimulating hormone level, Decreased circulating ACTH co... OMIM:613986
Familial Benign Chronic Pemphigus
Hyperkeratosis, Acantholysis ORPHA:2841
Mitochondrial Complex Iv Deficiency, Nuclear Type 13
Aortic regurgitation, Reduced left ventricular ejection fraction, Tricuspid regurgitation, Hypert... OMIM:616501
Lipodystrophy, Congenital Generalized, Type 2
Cirrhosis, Hyperinsulinemia, Hepatomegaly, Decreased serum leptin, Acute pancreatitis, Polyphagia... OMIM:269700
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Abnormal circulating renin, Congenital hypothyroidism, Precocious puberty, Failure to thrive, Dec... OMIM:614736
Perlman Syndrome
Femoral hernia, Hyperinsulinemia, Inguinal hernia ORPHA:2849
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Increased circulating IgE level, Lack of T cell function ORPHA:277
Immunodeficiency 81
Impaired collagen-induced platelet aggregation, Impaired neutrophil chemotaxis, Reduced natural k... OMIM:619374
Post-Traumatic Pituitary Deficiency
Abnormality of secondary sexual hair, Central diabetes insipidus, Decreased response to growth ho... ORPHA:95619
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Large for gestational age, Neonatal hypoglycemia, Hyperinsulinemia, Hypoketotic hypoglycemia, Fas... ORPHA:263455
Mandibuloacral Dysplasia With Type A Lipodystrophy
Hyperinsulinemia, Loss of subcutaneous adipose tissue in limbs, Increased adipose tissue around t... OMIM:248370
Immunodeficiency 96
Defective T cell proliferation, Decreased circulating total IgM, Decreased circulating IgG level,... OMIM:619774
Autoimmune Lymphoproliferative Syndrome
Reduced delayed hypersensitivity, Increased circulating IgG level, Increased circulating IgA leve... OMIM:601859
Acquired Generalized Lipodystrophy
Hyperinsulinemia, Panniculitis, Generalized lipodystrophy, Generalized hirsutism, Insulin resista... ORPHA:79086
Bangstad Syndrome
Hyperinsulinemia, Hypothyroidism, Primary gonadal insufficiency, Abnormality of the parathyroid g... ORPHA:1227
Immunodeficiency With Hyper-Igm, Type 1
Dysgammaglobulinemia, Decreased circulating IgE, Impaired Ig class switch recombination, Increase... OMIM:308230
Galactokinase Deficiency
Hyperinsulinemia, Hypergonadotropic hypogonadism, Failure to thrive, Hypoglycemia, Small for gest... ORPHA:79237
Estrogen Resistance Syndrome
Breast hypoplasia, Absence of secondary sex characteristics, Hyperinsulinemia, Abnormal circulati... ORPHA:785
Cardiomyopathy, Dilated, 1S
Congestive heart failure, Perimembranous ventricular septal defect, Reduced left ventricular ejec... OMIM:613426
Rett Syndrome
Agitation, Stereotypical hand wringing, Failure to thrive, Motor stereotypy, Increased serum lept... ORPHA:778
Orthostatic Hypotension 2
Hypoglycemia OMIM:618182
Rabson-Mendenhall Syndrome
Premature graying of hair, Increased circulating androgen concentration, Increased serum testoste... ORPHA:769
Multiple Endocrine Neoplasia, Type I
Glucagonoma, Increased circulating prolactin concentration, Adrenocortical adenoma, Pancreatic is... OMIM:131100
Adult Acute Respiratory Distress Syndrome
Increased circulating interleukin 6 concentration, Vasculitis, Hypotension, Abnormal circulating ... ORPHA:70578
Pituitary Stalk Interruption Syndrome
Delayed puberty, Diabetes insipidus, Adrenal hypoplasia, Abnormality of the hypothalamus-pituitar... ORPHA:95496
X-Linked Acrogigantism
Delayed puberty, Enlarged pituitary gland, Decreased thyroid-stimulating hormone level, Increased... ORPHA:300373
Short Fifth Metacarpals-Insulin Resistance Syndrome
Hyperinsulinemia ORPHA:66518
Multiple Endocrine Neoplasia Type 4
Abnormality of the endocrine system, Pituitary growth hormone cell adenoma, Pituitary corticotrop... ORPHA:276152
Sweet Syndrome
Small vessel vasculitis, Anemia, Acute myeloid leukemia, Increased circulating interleukin 6 conc... ORPHA:3243
Heart Block, Congenital
Absent atrioventricular node, Cardiomyopathy, Atrial arrhythmia, Myocardial fibrosis, Atrioventri... OMIM:234700
Lipodystrophy, Congenital Generalized, Type 4
Hyperinsulinemia, Hirsutism, Failure to thrive, Flexion contracture, Lipodystrophy, Insulin resis... OMIM:613327
Naxos Disease
Congestive heart failure, Right ventricular cardiomyopathy, Cardiomegaly, Paroxysmal ventricular ... OMIM:601214
Polyendocrine-Polyneuropathy Syndrome
Anterior pituitary hypoplasia, Hypoglycemia, Central hypothyroidism, Type I diabetes mellitus, Ab... OMIM:616113
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Decreased lymphocyte proliferation in response to anti-CD3, Abnormality of B cell physiology, Cut... OMIM:600802
Pancreatic And Cerebellar Agenesis
Reduced subcutaneous adipose tissue, Failure to thrive, Hyperglycemia, Flexion contracture, Hypog... OMIM:609069
Atypical Werner Syndrome
Delayed puberty, Neoplasm of the thyroid gland, Lipoatrophy, Hyperinsulinemia, Generalized lipody... ORPHA:79474
Acute Lung Injury
Abnormal circulating cytokine concentration, Increased circulating interleukin 6 concentration, D... ORPHA:178320
Keppen-Lubinsky Syndrome
Generalized lipodystrophy, Decreased serum leptin, Lack of facial subcutaneous fat, Absence of su... OMIM:614098
Autoimmune Lymphoproliferative Syndrome, Type Iia
Reduced delayed hypersensitivity, Increased circulating IgG level, Increased circulating IgA leve... OMIM:603909
Familial Hemophagocytic Lymphohistiocytosis
Abnormal circulating cytokine concentration, Anemia, Hemophagocytosis, Increased circulating inte... ORPHA:540
Bare Lymphocyte Syndrome, Type Ii
Agammaglobulinemia, Cutaneous anergy, Panhypogammaglobulinemia OMIM:209920
Macrophage Activation Syndrome
Anemia, Hemophagocytosis, Abnormal natural killer cell count, Increased circulating interleukin 6... ORPHA:158061
Hereditary Orotic Aciduria
Impaired T cell function, Patent ductus arteriosus ORPHA:30
Leprechaunism
Hyperinsulinemia, Recurrent infantile hypoglycemia, Fasting hypoglycemia, Facial hypertrichosis, ... ORPHA:508
Nestor-Guillermo Progeria Syndrome
Lipoatrophy, Failure to thrive, Decreased serum leptin, Flexion contracture OMIM:614008
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Hypoglycemic seizures, Neonatal hypoglycemia, Hypoketotic hypoglycemia, Failure to thrive, Hyperi... ORPHA:71212
Immunodeficiency By Defective Expression Of Mhc Class Ii
Decreased circulating antibody level, Lack of T cell function, Decreased lymphocyte proliferation... ORPHA:572
Orotic Aciduria
Impaired T cell function OMIM:258900
Congenital Disorder Of Glycosylation, Type Iil
Decreased specific anti-polysaccharide antibody level, Impaired T cell function, Patent ductus ar... OMIM:614576
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Lack of T cell function, Partial IgA deficiency, Decreased circulating IgG level, Decreased circu... ORPHA:35078
T-Cell Immunodeficiency With Thymic Aplasia
Reduced delayed hypersensitivity OMIM:242700
Retinitis Pigmentosa
Obesity, Hyperinsulinemia, Type II diabetes mellitus, Hypogonadism ORPHA:791
Generalized Glucocorticoid Resistance Syndrome
Abnormal circulating testosterone concentration, Frontal balding, Hirsutism, Increased urinary co... ORPHA:786
Dopamine Beta-Hydroxylase Deficiency
Insulin resistance, Hypoglycemia, Hyperinsulinemia ORPHA:230
Purine Nucleoside Phosphorylase Deficiency
Impaired T cell function, Abnormality of B cell physiology, Decreased lymphocyte proliferation in... OMIM:613179
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Increased circulating IgG level, Defective T cell proliferation, Increased circulating IgE level,... OMIM:618213
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Impaired T cell function OMIM:201100
Alstrom Syndrome
Decreased response to growth hormone stimulation test, Hyperinsulinemia, Diabetes insipidus, Alop... OMIM:203800
Prader-Willi Syndrome
Delayed puberty, Decreased response to growth hormone stimulation test, Hyperinsulinemia, Precoci... OMIM:176270
Woodhouse-Sakati Syndrome
Delayed puberty, Decreased response to growth hormone stimulation test, Hyperinsulinemia, Decreas... ORPHA:3464
Schimke Immuno-Osseous Dysplasia
Bone marrow hypocellularity, Abnormal lymphocyte physiology, Impaired T cell function ORPHA:1830
Hutchinson-Gilford Progeria Syndrome
Severe failure to thrive, Pubertal developmental failure in females, Decreased serum leptin, Dela... ORPHA:740
Immunodeficiency 58
Decreased circulating antibody level, Decreased T cell activation, Decreased specific antibody re... OMIM:618131
T-Cell Immunodeficiency With Thymic Aplasia
Oligoclonal T cell expansion, Decreased lymphocyte proliferation in response to mitogen ORPHA:83471
Wiskott-Aldrich Syndrome
Decreased specific anti-polysaccharide antibody level, Abnormal delayed hypersensitivity skin tes... OMIM:301000
Atelis Syndrome 2
Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemia OMIM:620185
Parenteral Nutrition-Associated Cholestasis
Splenomegaly, Portal hypertension, Abnormality of cytokine secretion ORPHA:567983
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Abnormality of T cell physiology ORPHA:2237
Velocardiofacial Syndrome
Impaired T cell function OMIM:192430
Turner Syndrome Due To Structural X Chromosome Anomalies
Delayed puberty, Hyperinsulinemia, Thyroiditis, Low posterior hairline, Hashimoto thyroiditis, Fa... ORPHA:99413
Turner Syndrome
Delayed puberty, Hyperinsulinemia, Thyroiditis, Low posterior hairline, Hashimoto thyroiditis, Fa... ORPHA:881
Mosaic Monosomy X
Delayed puberty, Hyperinsulinemia, Thyroiditis, Low posterior hairline, Hashimoto thyroiditis, Fa... ORPHA:99228
Monosomy X
Delayed puberty, Hyperinsulinemia, Thyroiditis, Low posterior hairline, Hashimoto thyroiditis, Fa... ORPHA:99226
Steinert Myotonic Dystrophy
Non-medullary thyroid carcinoma, Abnormality of thyroid physiology, Hyperinsulinemia, Decreased r... ORPHA:273
Progeroid Short Stature With Pigmented Nevi
Impaired T cell function OMIM:176690
Sarcoidosis, Susceptibility To, 1
Abnormality of T cell physiology, Increased circulating antibody level OMIM:181000
Homozygous Familial Hypercholesterolemia
Tendon xanthomatosis, Abnormal tendon morphology, Angina pectoris, Hypertension, Mitral regurgita... ORPHA:391665
22Q11.2 Deletion Syndrome
Impaired T cell function, Patent ductus arteriosus ORPHA:567
Pmm2-Cdg
Abnormal subcutaneous fat tissue distribution, Elevated circulating thyroid-stimulating hormone c... ORPHA:79318
Alström Syndrome
Elevated circulating thyroid-stimulating hormone concentration, Decreased response to growth horm... ORPHA:64
Digeorge Syndrome
Impaired T cell function, Patent ductus arteriosus OMIM:188400

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 Mapk8

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 Mapk8.

No publications found that use IMPC mice or data for Mapk8.

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
Mapk8tm1(NCOM)Mfgc Reporter-tagged deletion allele (with selection cassette) Targeting vectors, ES Cells

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