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Gene: Mapk8 MGI:1346861

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

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 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
Retinal dysplasia, Falciform retinal fold OMIM:312550
Pa Polymorphism Of Alpha-2-Globulin
Abnormal immunoglobulin level OMIM:260100
Keratosis, Focal Palmoplantar And Gingival
Subungual hyperkeratosis, Focal friction-related palmoplantar hyperkeratosis, Gingival hyperkerat... OMIM:148730
Hereditary Palmoplantar Keratoderma, Gamborg-Nielsen Type
Diffuse palmoplantar hyperkeratosis, Hyperkeratosis with erythema 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
Reticulate Acropigmentation Of Kitamura
Hyperkeratosis OMIM:615537
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
Palmoplantar Keratoderma, Nonepidermolytic, Focal 1
Palmoplantar keratoderma, Follicular hyperkeratosis, Perioral hyperkeratosis OMIM:613000
Choroidal Dystrophy, Central Areolar, 1
Chorioretinal atrophy, Choriocapillaris atrophy, Pigmentary retinopathy OMIM:215500
Transient Neonatal Diabetes Mellitus
Hypothyroidism, Transient neonatal diabetes mellitus, Diabetic ketoacidosis, Small for gestationa... ORPHA:99886
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
Immunodeficiency 18
Defective T cell proliferation OMIM:615615
Left Ventricular Noncompaction 7
Left ventricular noncompaction cardiomyopathy, Left ventricular noncompaction OMIM:615092
Multiple Symmetric Lipomatosis
Multiple lipomas, Abnormal adipose tissue morphology, Insulin resistance ORPHA:2398
Hyperinsulinemic Hypoglycemia, Familial, 3
Diabetes mellitus, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:602485
Hyperinsulinemic Hypoglycemia, Familial, 5
Elevated circulating insulin:C-peptide ratio, Hypoglycemic seizures, Fasting hyperinsulinemia, Hy... OMIM:609968
Cardiomyopathy, Dilated, 1R
Myofiber disarray, Interstitial cardiac fibrosis, Restrictive cardiomyopathy, Ventricular arrhyth... OMIM:613424
Obesity Due To Melanocortin 4 Receptor Deficiency
Hyperinsulinemia, Childhood-onset truncal obesity, Increased adipose tissue, Type II diabetes mel... ORPHA:71529
Hyperinsulinemic Hypoglycemia, Familial, 7
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemic seizures, Hypoglycemia, Pancreatic ... OMIM:610021
Immunodeficiency 24
Decreased circulating IgG level, Defective T cell proliferation, Decreased circulating IgG2 level... OMIM:615897
Night Blindness, Congenital Stationary, Type 1D
Congenital stationary night blindness, Macular atrophy, Pigmentary retinopathy, Attenuation of re... OMIM:613830
Short Stature Due To Ghsr Deficiency
Decreased body weight, Abnormality of body weight, Delayed puberty, Hypoglycemia, Decreased serum... ORPHA:314811
Hyperinsulinemic Hypoglycemia, Familial, 1
Hypoglycemic seizures, Large for gestational age, Hyperinsulinemic hypoglycemia, Pancreatic islet... OMIM:256450
Hyperinsulinemic Hypoglycemia, Familial, 2
Hypoglycemia, Large for gestational age, Hyperinsulinemic hypoglycemia, Pancreatic islet-cell hyp... OMIM:601820
Hyperinsulinism Due To Insr Deficiency
Insulin resistance, Hyperinsulinemic hypoglycemia, Hypoglycemia, Recurrent hypoglycemia, Fasting ... ORPHA:263458
Obesity Due To Prohormone Convertase I Deficiency
Pituitary hypothyroidism, Hyperinsulinemia, Childhood-onset truncal obesity, Increased adipose ti... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Pituitary hypothyroidism, Hyperinsulinemia, Childhood-onset truncal obesity, Increased adipose ti... ORPHA:71526
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Sudden cardiac death, Ventricular arrhythmia, Left ventricular hypertrophy, Congestive heart fail... OMIM:601493
Hyperinsulinism Due To Glucokinase Deficiency
Hypoketotic hypoglycemia, Type II diabetes mellitus, Hyperinsulinemic hypoglycemia, Recurrent hyp... ORPHA:79299
Left Ventricular Noncompaction 10
Pulmonary arterial hypertension, Syncope, Congestive heart failure, Dilated cardiomyopathy, Incre... OMIM:615396
Plin1-Related Familial Partial Lipodystrophy
Hyperinsulinemia, Loss of gluteal subcutaneous adipose tissue, Insulin-resistant diabetes mellitu... ORPHA:280356
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Large for gestational age, Neonatal hypoglycemia, Truncal obesity OMIM:240900
Hyperinsulinemic Hypoglycemia, Familial, 4
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:609975
Insulin Autoimmune Syndrome
Weight loss, Nonketotic hypoglycemia, Insulin resistance, Hyperinsulinemic hypoglycemia, Reactive... ORPHA:411593
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Cutaneous anergy OMIM:183350
Reticular Dysgenesis
Impaired T cell function, Lack of T cell function OMIM:267500
Short Stature Due To Partial Ghr Deficiency
Delayed puberty, Hypoglycemia, Decreased serum insulin-like growth factor 1 ORPHA:314802
Familial Partial Lipodystrophy, Köbberling Type
Lipoatrophy, Hyperinsulinemia, Insulin resistance, Diabetes mellitus ORPHA:79084
Left Ventricular Noncompaction 8
Left ventricular diastolic dysfunction, Dilated cardiomyopathy, Congestive heart failure, Left ve... OMIM:615373
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Elevated circulating thyroid-stimulating hormone concentration, Increased circulating T4 concentr... ORPHA:171706
Cardiomyopathy, Dilated, 1Gg
Reduced left ventricular ejection fraction, Cardiogenic shock, Congestive heart failure, Dilated ... OMIM:613642
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Myofiber disarray, Supraventricular tachycardia, Cardiac arrest, Left ventricular hypertrophy, Di... OMIM:612158
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency
Hypoglycemia ORPHA:35701
Immunodeficiency 11
Agammaglobulinemia, Reduced antigen-specific T cell proliferation, Decreased circulating antibody... OMIM:615206
Mody
Transient neonatal diabetes mellitus, Diabetic ketoacidosis, Glycosuria, Abnormal circulating ins... ORPHA:552
Insulinomatosis And Diabetes Mellitus
Multiple pancreatic beta-cell adenomas, Impaired glucose tolerance, Type II diabetes mellitus, Hy... OMIM:147630
Lipodystrophy, Familial Partial, Type 3
Hyperinsulinemia, Loss of gluteal subcutaneous adipose tissue, Reduced subcutaneous adipose tissu... OMIM:604367
Isolated Growth Hormone Deficiency, Type Ia
Hypoglycemia, Reduced circulating growth hormone concentration, Decreased serum insulin-like grow... OMIM:262400
Wiskott-Aldrich Syndrome 2
Defective T cell proliferation, Reduced natural killer cell activity OMIM:614493
Hyperproinsulinemia
Hyperglycemia, Hyperinsulinemia OMIM:616214
Immunodeficiency With Hyper-Igm, Type 3
Impaired Ig class switch recombination, Decreased circulating IgE, Decreased circulating IgA leve... OMIM:606843
Hyperinsulinism Due To Hnf1A Deficiency
Hypoketotic hypoglycemia, Hyperinsulinemia, Ketotic hypoglycemia, Small for gestational age, Mate... ORPHA:324575
Left Ventricular Noncompaction 1
Patent ductus arteriosus, Sudden cardiac death, Ventricular septal defect, Ventricular arrhythmia... OMIM:604169
Body Mass Index Quantitative Trait Locus 19
Hyperinsulinemia, Increased serum leptin, Insulin resistance, Polyphagia, Obesity OMIM:617885
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1
Hyperinsulinemic hypoglycemia, Dorsocervical fat pad, Diabetes mellitus, Delayed puberty, Delayed... OMIM:616033
Polyendocrine-Polyneuropathy Syndrome
Central hypothyroidism, Alopecia, Decreased circulating follicle stimulating hormone concentratio... ORPHA:453533
Hyperinsulinemic Hypoglycemia, Familial, 6
Failure to thrive, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia, Abnormality of the pancr... OMIM:606762
Lipase Deficiency, Combined
Lipodystrophy, Type II diabetes mellitus OMIM:246650
Pituitary Hormone Deficiency, Combined, 4
Adrenal insufficiency, Hypothyroidism, Hypoglycemia, Impaired growth-hormone response to insulin ... OMIM:262700
Caspase 8 Deficiency
Decreased T cell activation, Decreased circulating total IgM, Complete or near-complete absence o... OMIM:607271
Hypoglycemia, Leucine-Induced
Hypoglycemia, Hyperinsulinemic hypoglycemia OMIM:240800
Dwarfism, Low-Birth-Weight Type, With Unresponsiveness To Growth Hormone
Hypoglycemia OMIM:223500
Akt2-Related Familial Partial Lipodystrophy
Insulin resistance, Hepatic steatosis, Decreased serum leptin, Lipodystrophy, Decreased adiponect... ORPHA:79085
Homozygous 11P15-P14 Deletion Syndrome
Failure to thrive, Hyperinsulinemia, Hypoglycemia OMIM:606528
Cidec-Related Familial Partial Lipodystrophy
Loss of gluteal subcutaneous adipose tissue, Hepatic steatosis, Decreased serum leptin, Lipodystr... ORPHA:435651
Leptin Deficiency Or Dysfunction
Decreased serum leptin, Obesity, Polyphagia, Hypogonadism OMIM:614962
Glycogen Storage Disease 0, Liver
Fasting hypoglycemia, Postprandial hyperglycemia, Neonatal hypoglycemia OMIM:240600
Fructose And Galactose Intolerance
Hypoglycemia OMIM:229500
Obesity Due To Congenital Leptin Deficiency
Hyperinsulinemia, Decreased serum estradiol, Absence of secondary sex characteristics, Decreased ... ORPHA:66628
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin
Decreased circulating IgA level OMIM:235500
Lipe-Related Familial Partial Lipodystrophy
Loss of gluteal subcutaneous adipose tissue, Insulin resistance, Increased adipose tissue around ... ORPHA:435660
Growth Hormone Insensitivity Syndrome
Diabetes insipidus, Hypogonadism, Type II diabetes mellitus, Insulin resistance, Fine hair, Diabe... ORPHA:181393
Obesity Due To Leptin Receptor Gene Deficiency
Hyperinsulinemia, Decreased serum estradiol, Absence of secondary sex characteristics, Decreased ... ORPHA:179494
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hypoketotic hypoglycemia, Hyperinsulinemia, Maternal diabetes, Type I diabetes mellitus, Hyperins... ORPHA:276580
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Hypoketotic hypoglycemia, Nonketotic hypoglycemia, Large for gestational age, Neonatal hypoglycem... ORPHA:293964
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Hypoketotic hypoglycemia, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Reactive hypoglycemia,... ORPHA:276608
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Hyperglycemia, Hypergonadotropic hypogonadism, Glucose intolerance, Male hypogonadism OMIM:307500
Lipodystrophy, Familial Partial, Type 5
Diabetic ketoacidosis, Hepatic steatosis, Decreased serum leptin, Lipodystrophy, Decreased adipon... OMIM:615238
Immunodeficiency 66
Defective T cell proliferation OMIM:618847
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Hyperinsulinemia, Precocious puberty, Diabetic ketoacidosis, Small for gestational age, Hypoglyce... OMIM:262190
Vohwinkel Syndrome, Variant Form
Parakeratosis, Hyperkeratosis, Honeycomb palmoplantar hyperkeratosis, Orthokeratosis OMIM:604117
Porokeratosis 7, Multiple Types
Parakeratosis OMIM:614714
Porokeratosis 1, Multiple Types
Parakeratosis OMIM:175800
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial
Hypoglycemia, Impaired gluconeogenesis OMIM:261650
Polyendocrine-Polyneuropathy Syndrome
Central hypothyroidism, Hypoglycemia, Hypogonadism OMIM:616113
Hyperinsulinism-Hyperammonemia Syndrome
Reactive hypoglycemia, Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia ORPHA:35878
Obesity Due To Sim1 Deficiency
Hyperinsulinemia, Increased resting energy expenditure, Polyphagia, Attention deficit hyperactivi... ORPHA:369873
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hypoketotic hypoglycemia, Hyperinsulinemia, Type I diabetes mellitus, Hyperinsulinemic hypoglycem... ORPHA:276575
Griscelli Syndrome, Type 2
Reduced delayed hypersensitivity OMIM:607624
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Hypoglycemia ORPHA:366
Mandibuloacral Dysplasia
Alopecia, Hyperinsulinemia, Contractures of the large joints, Glucose intolerance, Insulin resist... ORPHA:2457
Lipodystrophy, Familial Partial, Type 2
Increased facial adipose tissue, Hyperinsulinemia, Reduced subcutaneous adipose tissue, Type II d... OMIM:151660
Body Mass Index Quantitative Trait Locus 20
Hyperinsulinemia, Obesity OMIM:618406
Cardiomyopathy, Dilated, 1D
Sudden cardiac death, Reduced left ventricular ejection fraction, Left ventricular hypertrophy, C... OMIM:601494
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Hyperglycemia, Hyperinsulinemia, Obesity ORPHA:329249
Retinitis Pigmentosa
Hyperinsulinemia, Hypogonadism, Type II diabetes mellitus, Atypical scarring of skin, Obesity ORPHA:791
Glycogen Storage Disease Vi
Hypoglycemia, Failure to thrive in infancy OMIM:232700
Insulin-Resistance Syndrome Type B
Biliary cirrhosis, Hyperinsulinemia, Increased serum testosterone level, Fasting hypoglycemia, De... ORPHA:2298
Atrial Standstill
Flexion contracture, Ischemic stroke, Left ventricular noncompaction, Palpitations, Abnormal P wa... ORPHA:1344
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Hyperinsulinemia, Keloids, Type II diabetes mellitus, Hypergonadotropic hypogonadism, Obesity ORPHA:3085
Severe Neurodegenerative Syndrome With Lipodystrophy
Hyperinsulinemia, Reduced intraabdominal adipose tissue, Reduced subcutaneous adipose tissue, Ins... ORPHA:363400
Reese Retinal Dysplasia
Retinal dysplasia, Remnants of the hyaloid vascular system OMIM:266400
Hyperinsulinism Due To Ucp2 Deficiency
Hypoketotic hypoglycemia, Large for gestational age, Hyperinsulinemic hypoglycemia, Diffuse pancr... ORPHA:276556
Mandibuloacral Dysplasia With Type B Lipodystrophy
Alopecia, Hyperinsulinemia, Flexion contracture, Hyperglycemia, Brittle hair, Decreased adipose t... OMIM:608612
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Increased circulating IgE level, Reduced antigen-specific T cell proliferation, Increased circula... OMIM:617241
Immunodeficiency, Common Variable, 2
Partial absence of specific antibody response to unconjugated pneumococcus vaccine, Impaired T ce... OMIM:240500
Estrogen Resistance
Increased serum estradiol, Hyperinsulinemia, Impaired glucose tolerance, Breast aplasia, Delayed ... OMIM:615363
Sick Sinus Syndrome 2
Sudden cardiac death, Torsade de pointes, Cardiac arrest, Mitral valve prolapse, Syncope, Left ve... OMIM:163800
Congenital Generalized Lipodystrophy
Precocious puberty in females, Hyperinsulinemia, Insulin resistance, Adipose tissue loss, Diabete... ORPHA:528
Bdv Syndrome
Central hypothyroidism, Decreased circulating follicle stimulating hormone concentration, Hyperin... OMIM:619326
Insulinoma
Hyperinsulinemia, Nonketotic hypoglycemia, Abnormality of the pancreatic islet cells, Neuroendocr... ORPHA:97279
Solitary Fibrous Tumor/Hemangiopericytoma
Hypoglycemia, Recurrent hypoglycemia, Hypoinsulinemia, Weight loss ORPHA:2126
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Multiple pancreatic beta-cell adenomas, Increased circulating cortisol level, Abnormal response t... ORPHA:79644
Pituitary Hormone Deficiency, Combined, 2
Hypothyroidism, Decreased circulating follicle stimulating hormone concentration, Hypogonadism, A... OMIM:262600
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Increased facial adipose tissue, Minimal subcutaneous fat, Reduced subcutaneous adipose tissue, P... ORPHA:280365
Donohue Syndrome
Hyperinsulinemia, Precocious puberty, Adipose tissue loss, Postprandial hyperglycemia, Severe fai... OMIM:246200
Immunodeficiency, Common Variable, 1
Decreased circulating IgA level, Impaired T cell function, Decreased circulating total IgM, Decre... OMIM:607594
Long Qt Syndrome 15
Polymorphic ventricular tachycardia, Ventricular ectopy, Cardiac arrest, Syncope, Left ventricula... OMIM:616249
Lipodystrophy, Congenital Generalized, Type 1
Hyperinsulinemia, Cirrhosis, Reduced intraabdominal adipose tissue, Insulin-resistant diabetes me... OMIM:608594
Glucocorticoid Deficiency 2
Increased circulating ACTH level, Decreased circulating cortisol level, Recurrent hypoglycemia OMIM:607398
3-Methylcrotonyl-Coa Carboxylase Deficiency
Hypoglycemia, Failure to thrive in infancy ORPHA:6
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Decreased CD69 upregulation upon TCR activation, Decreased specific anti-polysaccharide antibody ... OMIM:300853
Tenorio Syndrome
Hypertrichosis, Hypoglycemia, Thick eyebrow, Hypoinsulinemia OMIM:616260
Coloboma Of Optic Nerve
Retinal detachment, Optic disc coloboma OMIM:120430
Glucocorticoid Resistance, Generalized
Increased serum testosterone level, Increased circulating cortisol level, Increased circulating A... OMIM:615962
Mitochondrial Complex Iv Deficiency, Nuclear Type 13
Patent ductus arteriosus, Reduced left ventricular ejection fraction, Left ventricular noncompact... OMIM:616501
Lipodystrophy, Congenital Generalized, Type 2
Hyperinsulinemia, Cirrhosis, Reduced intraabdominal adipose tissue, Insulin-resistant diabetes me... OMIM:269700
Familial Benign Chronic Pemphigus
Acantholysis, Hyperkeratosis ORPHA:2841
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Precocious puberty, Increased circulating ACTH level, Decreased circulating cortisol level, Abnor... OMIM:614736
Perlman Syndrome
Inguinal hernia, Hyperinsulinemia, Femoral hernia ORPHA:2849
Mandibuloacral Dysplasia With Type A Lipodystrophy
Alopecia, Increased facial adipose tissue, Flexion contracture, Hyperinsulinemia, Sparse scalp ha... OMIM:248370
Estrogen Resistance Syndrome
Hyperinsulinemia, Abnormality of the pubic hair, Absence of secondary sex characteristics, Abnorm... ORPHA:785
Hyperinsulinism Due To Hnf4A Deficiency
Hypoketotic hypoglycemia, Hyperinsulinemia, Glycosuria, Large for gestational age, Neonatal hypog... ORPHA:263455
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Increased circulating IgE level, Lack of T cell function ORPHA:277
Immunodeficiency 81
Impaired neutrophil chemotaxis, Impaired collagen-induced platelet aggregation, Reduced antigen-s... OMIM:619374
Pituitary Hormone Deficiency, Combined, 6
Decreased circulating follicle stimulating hormone concentration, Decreased circulating ACTH leve... OMIM:613986
Post-Traumatic Pituitary Deficiency
Abnormality of secondary sexual hair, Decreased response to growth hormone stimulation test, Decr... ORPHA:95619
Acquired Generalized Lipodystrophy
Hyperinsulinemia, Insulin resistance, Generalized lipodystrophy, Insulin-resistant diabetes melli... ORPHA:79086
Familial Renal Glucosuria
Glycosuria, Insulin resistance, Hyperglycemia, Abnormal oral glucose tolerance, Abnormal circulat... ORPHA:69076
Immunodeficiency 96
Defective T cell proliferation, Decreased circulating IgA level, Decreased circulating total IgM,... OMIM:619774
Autoimmune Lymphoproliferative Syndrome
Increased circulating IgA level, Increased circulating IgM level, Reduced delayed hypersensitivit... OMIM:601859
Bangstad Syndrome
Primary gonadal insufficiency, Hypothyroidism, Hyperinsulinemia, Increased circulating cortisol l... ORPHA:1227
Galactokinase Deficiency
Hyperinsulinemia, Small for gestational age, Failure to thrive, Hypoglycemia, Hypergonadotropic h... ORPHA:79237
Immunodeficiency With Hyper-Igm, Type 1
Decreased T cell activation, Decreased circulating IgE, Impaired Ig class switch recombination, I... OMIM:308230
Cardiomyopathy, Dilated, 1S
Sudden cardiac death, Pulmonary arterial hypertension, Interstitial cardiac fibrosis, Reduced lef... OMIM:613426
Cushing Syndrome Due To Macronodular Adrenal Hyperplasia
Alopecia, Hyperaldosteronism, Increased circulating cortisol level, Macronodular adrenal hyperpla... ORPHA:189427
Short Stature, Dauber-Argente Type
Fasting hyperinsulinemia OMIM:619489
Orthostatic Hypotension 2
Hypoglycemia OMIM:618182
Rabson-Mendenhall Syndrome
Hypothyroidism, Precocious puberty, Increased serum testosterone level, Premature graying of hair... ORPHA:769
Multiple Endocrine Neoplasia, Type I
Increased circulating prolactin concentration, Parathyroid adenoma, Increased circulating cortiso... OMIM:131100
Multiple Endocrine Neoplasia Type 4
Pituitary corticotropic cell adenoma, Parathyroid adenoma, Hyperinsulinemic hypoglycemia, Pituita... ORPHA:276152
Adult Acute Respiratory Distress Syndrome
Hypotension, Increased circulating interleukin 6 concentration, Abnormality of tumor necrosis fac... ORPHA:70578
Pituitary Stalk Interruption Syndrome
Hypothyroidism, Diabetes insipidus, Ectopic posterior pituitary, Failure to thrive, Hypoglycemia,... ORPHA:95496
Ornithine Transcarbamylase Deficiency
Hypoglycemia ORPHA:664
Short Fifth Metacarpals-Insulin Resistance Syndrome
Hyperinsulinemia ORPHA:66518
Sweet Syndrome
Acute myeloid leukemia, Anemia, Sterile abscess, Breast carcinoma, Chronic lymphatic leukemia, Sm... ORPHA:3243
Naxos Disease
Sudden cardiac death, Right bundle branch block, Right ventricular cardiomyopathy, Abnormal morph... OMIM:601214
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Cutaneous anergy, Abnormality of B cell physiology, Panhypogammaglobulinemia, Decreased lymphocyt... OMIM:600802
X-Linked Acrogigantism
Enlarged pituitary gland, Diabetes insipidus, Increased circulating prolactin concentration, Incr... ORPHA:300373
Car T Cell Therapy-Associated Cytokine Release Syndrome
Hypotension, Increased circulating interleukin 6 concentration, Reduced left ventricular ejection... ORPHA:542323
Lipodystrophy, Congenital Generalized, Type 4
Hyperinsulinemia, Flexion contracture, Insulin resistance, Lipodystrophy, Failure to thrive, Hirs... OMIM:613327
Rett Syndrome
Failure to thrive, Cholecystitis, Increased serum leptin, Agitation ORPHA:778
Pancreatic And Cerebellar Agenesis
Flexion contracture, Reduced subcutaneous adipose tissue, Diabetes mellitus, Hypoglycemia, Failur... OMIM:609069
Acute Lung Injury
Increased circulating interleukin 6 concentration, Abnormality of tumor necrosis factor secretion... ORPHA:178320
Atypical Werner Syndrome
Hyperinsulinemia, Decreased body weight, Hypogonadism, Glycosuria, Type II diabetes mellitus, Hep... ORPHA:79474
Heart Block, Congenital
Myocardial fibrosis, Myocardial calcification, Mitral regurgitation, Atrioventricular block, Abse... OMIM:234700
Keppen-Lubinsky Syndrome
Flexion contracture, Decreased serum leptin, Failure to thrive, Generalized lipodystrophy, Lack o... OMIM:614098
Mpi-Cdg
Failure to thrive, Hypothyroidism, Hyperinsulinemic hypoglycemia ORPHA:79319
Familial Hemophagocytic Lymphohistiocytosis
Anemia, Increased circulating interleukin 6 concentration, Reduced natural killer cell activity, ... ORPHA:540
Macrophage Activation Syndrome
Abnormal natural killer cell count, Anemia, Increased circulating interleukin 6 concentration, Ab... ORPHA:158061
Leprechaunism
Central hypothyroidism, Hyperinsulinemia, Hyperaldosteronism, Decreased body weight, Reduced subc... ORPHA:508
Bare Lymphocyte Syndrome, Type Ii
Cutaneous anergy, Agammaglobulinemia, Panhypogammaglobulinemia OMIM:209920
Autoimmune Lymphoproliferative Syndrome, Type Iia
Increased circulating IgA level, Increased circulating IgM level, Reduced delayed hypersensitivit... OMIM:603909
Hereditary Orotic Aciduria
Patent ductus arteriosus, Impaired T cell function ORPHA:30
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Glycosuria, Diabetes mellitus, Hypoglycemia, Large for gestational age OMIM:616026
Alstrom Syndrome
Alopecia, Hyperinsulinemia, Hypothyroidism, Diabetes insipidus, Decreased response to growth horm... OMIM:203800
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Hypoketotic hypoglycemia, Neonatal hypoglycemia, Hyperinsulinemic hypoglycemia, Failure to thrive... ORPHA:71212
Aregenerative Anemia
Reticulocytopenia, Abnormal proportion of CD8-positive T cells, Erythroid hypoplasia, Pancytopeni... ORPHA:101096
Immunodeficiency By Defective Expression Of Mhc Class Ii
Panhypogammaglobulinemia, Lack of T cell function, Decreased lymphocyte proliferation in response... ORPHA:572
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Lack of T cell function, Decreased circulating total IgM, Decreased lymphocyte proliferation in r... ORPHA:35078
Nestor-Guillermo Progeria Syndrome
Decreased serum leptin, Flexion contracture, Failure to thrive, Lipoatrophy OMIM:614008
Orotic Aciduria
Impaired T cell function OMIM:258900
Congenital Disorder Of Glycosylation, Type Iil
Patent ductus arteriosus, Decreased specific anti-polysaccharide antibody level, Impaired T cell ... OMIM:614576
Generalized Glucocorticoid Resistance Syndrome
Precocious puberty, Decreased circulating aldosterone level, Increased circulating cortisol level... ORPHA:786
T-Cell Immunodeficiency With Thymic Aplasia
Reduced delayed hypersensitivity OMIM:242700
Purine Nucleoside Phosphorylase Deficiency
Abnormality of B cell physiology, Impaired T cell function, Decreased lymphocyte proliferation in... OMIM:613179
Dopamine Beta-Hydroxylase Deficiency
Hypoglycemia, Insulin resistance, Hyperinsulinemia ORPHA:230
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Impaired T cell function OMIM:201100
Prader-Willi Syndrome
Failure to thrive in infancy, Hyperinsulinemia, Precocious puberty, Decreased response to growth ... OMIM:176270
Woodhouse-Sakati Syndrome
Alopecia, Hyperinsulinemia, Aplasia/Hypoplasia of the eyebrow, Hypothyroidism, Decreased serum es... ORPHA:3464
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Defective T cell proliferation, Increased circulating IgG level, Increased circulating IgE level,... OMIM:618213
Schimke Immuno-Osseous Dysplasia
Impaired T cell function, Bone marrow hypocellularity, Abnormal lymphocyte physiology ORPHA:1830
Hutchinson-Gilford Progeria Syndrome
Cyanosis, Female hypogonadism, Absence of subcutaneous fat, Pubertal developmental failure in fem... ORPHA:740
Thymic Aplasia
Oligoclonal T cell expansion, Decreased lymphocyte proliferation in response to mitogen ORPHA:83471
Parenteral Nutrition-Associated Cholestasis
Abnormality of cytokine secretion, Portal hypertension, Splenomegaly ORPHA:567983
Wiskott-Aldrich Syndrome
Decreased circulating total IgM, Reduced natural killer cell activity, Abnormal delayed hypersens... OMIM:301000
Visceral Steatosis, Congenital
Jaundice, Myocardial steatosis OMIM:228100
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Abnormality of T cell physiology ORPHA:2237
Velocardiofacial Syndrome
Impaired T cell function OMIM:192430
Steinert Myotonic Dystrophy
Alopecia, Hyperinsulinemia, Decreased response to growth hormone stimulation test, Abnormality of... ORPHA:273
Turner Syndrome Due To Structural X Chromosome Anomalies
High urinary gonadotropin level, Alopecia, Hyperinsulinemia, Type II diabetes mellitus, Thyroidit... ORPHA:99413
Turner Syndrome
High urinary gonadotropin level, Alopecia, Hyperinsulinemia, Type II diabetes mellitus, Thyroidit... ORPHA:881
Mosaic Monosomy X
High urinary gonadotropin level, Alopecia, Hyperinsulinemia, Type II diabetes mellitus, Thyroidit... ORPHA:99228
Monosomy X
High urinary gonadotropin level, Alopecia, Hyperinsulinemia, Type II diabetes mellitus, Thyroidit... ORPHA:99226
Homozygous Familial Hypercholesterolemia
Sudden cardiac death, Abnormal tendon morphology, Tendon xanthomatosis, Heart murmur, Angina pect... ORPHA:391665
Progeroid Short Stature With Pigmented Nevi
Impaired T cell function OMIM:176690
Sarcoidosis, Susceptibility To, 1
Increased circulating antibody level, Abnormality of T cell physiology OMIM:181000
22Q11.2 Deletion Syndrome
Patent ductus arteriosus, Impaired T cell function ORPHA:567
Pmm2-Cdg
Hyperinsulinemia, Increased circulating prolactin concentration, Elevated circulating thyroid-sti... ORPHA:79318
Alström Syndrome
Precocious puberty in females, Hyperinsulinemia, Elevated circulating thyroid-stimulating hormone... ORPHA:64
Digeorge Syndrome
Patent ductus arteriosus, Impaired T cell function 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.

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

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