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Gene: Mapk1 MGI:1346858

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Gene Summary

Name:
mitogen-activated protein kinase 1
Synonyms:
MAPK2,  Erk2,  Prkm1,  9030612K14Rik,  p42mapk

Order Alleles

IMPC Data Collections

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.

Phenotype System Allele Zyg Sex Life Stage P Value
preweaning lethality, complete penetrance Mapk1tm1a(EUCOMM)Wtsi HOM   Early adult 0.00

Download data as:  TSV  XLS

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Viewing: all phenotypes

lacZ Expression

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Adrenal gland N/A heterozygote 0.0% (0 of 2)
Aorta N/A heterozygote Not available
Blood vessel N/A heterozygote 0.0% (0 of 2)
Bone N/A heterozygote 0.0% (0 of 2)
Brain N/A heterozygote 100% (2 of 2)
Brainstem N/A heterozygote Not available
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Cartilage tissue N/A heterozygote 0.0% (0 of 2)
Cerebellum N/A heterozygote Not available
Cerebral cortex N/A heterozygote Not available
Eye N/A heterozygote 0.0% (0 of 2)
Gall bladder N/A heterozygote 0.0% (0 of 2)
Heart N/A heterozygote 0.0% (0 of 2)
Hippocampus N/A heterozygote Not available
Hypothalamus N/A heterozygote Not available
Kidney N/A heterozygote 0.0% (0 of 2)
Large intestine N/A heterozygote 0.0% (0 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Lower urinary tract N/A heterozygote 0.0% (0 of 2)
Lung N/A heterozygote 0.0% (0 of 2)
Lymph node N/A heterozygote 0.0% (0 of 2)
Mammary gland N/A heterozygote 0.0% (0 of 2)
Esophagus N/A heterozygote 0.0% (0 of 2)
Olfactory lobe N/A heterozygote Not available
Ovary N/A heterozygote 0.0% (0 of 2)
Oviduct N/A heterozygote 0.0% (0 of 2)
Pancreas N/A heterozygote 0.0% (0 of 2)
Parathyroid gland N/A heterozygote 0.0% (0 of 2)
Peripheral nervous system N/A heterozygote 0.0% (0 of 2)
Peyer's patch N/A heterozygote 0.0% (0 of 2)
Pituitary gland N/A heterozygote 0.0% (0 of 2)
Prostate gland N/A heterozygote 0.0% (0 of 2)
Skeletal muscle tissue N/A heterozygote 0.0% (0 of 2)
Skin N/A heterozygote 0.0% (0 of 2)
Small intestine N/A heterozygote 0.0% (0 of 2)
Spinal cord N/A heterozygote 0.0% (0 of 2)
Spleen N/A heterozygote 0.0% (0 of 2)
Stomach N/A heterozygote 0.0% (0 of 2)
Striatum N/A heterozygote Not available
Testis N/A heterozygote 0.0% (0 of 2)
Thymus N/A heterozygote 0.0% (0 of 2)
Thyroid gland N/A heterozygote 0.0% (0 of 2)
Trachea N/A heterozygote 0.0% (0 of 2)
Uterus N/A heterozygote 0.0% (0 of 2)
White adipose tissue N/A heterozygote 0.0% (0 of 2)
No Embryo expression data was found for this gene.

Background staining occurs in wild type mice and embryos at an incidental rate.

Anatomy Background staining in controls (WT)
adrenal gland 0.67% (4 of 598)
aorta 0.17% (1 of 598)
blood vessel 0.0%
bone 0.0%
brain 0.84% (5 of 598)
brainstem 0.33% (2 of 598)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 598)
cerebellum 0.5% (3 of 598)
cerebral cortex 0.33% (2 of 598)
eye 0.0%
gall bladder 0.0%
heart 0.33% (2 of 598)
hippocampus 0.5% (3 of 598)
hypothalamus 0.33% (2 of 598)
kidney 4.52% (27 of 598)
large intestine 5.35% (32 of 598)
liver 0.0%
lower urinary tract 0.17% (1 of 598)
lung 0.33% (2 of 598)
lymph node 0.17% (1 of 598)
mammary gland 0.0%
oesophagus 0.0%
olfactory lobe 0.33% (2 of 598)
ovary 0.17% (1 of 598)
oviduct 0.0%
pancreas 0.84% (5 of 598)
parathyroid gland 0.17% (1 of 576)
peripheral nervous system 0.33% (2 of 598)
peyer's patch 0.57% (1 of 176)
pituitary gland 0.17% (1 of 598)
prostate gland 2.17% (13 of 598)
skeletal muscle tissue 0.0%
skin 0.17% (1 of 598)
small intestine 5.35% (32 of 598)
spinal cord 0.5% (3 of 598)
spleen 0.5% (3 of 598)
stomach 3.68% (22 of 598)
striatum 0.5% (3 of 598)
testis 1% (6 of 598)
thymus 0.17% (1 of 598)
thyroid gland 3.01% (18 of 598)
trachea 0.5% (3 of 598)
uterus 0.33% (2 of 598)
white adipose tissue 0.0%
No Embryo expression data was found for this gene.

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Legacy Phenotype Associated Images
Mapk1tm1a(EUCOMM)Wtsi
forearm, HET, Female, WTSI
Mapk1tm1a(EUCOMM)Wtsi
body, HET, Male, WTSI
Mapk1tm1a(EUCOMM)Wtsi
head, HET, Male, WTSI
Mapk1tm1a(EUCOMM)Wtsi
forearm, HET, Male, WTSI
Mapk1tm1a(EUCOMM)Wtsi
HET, Male, WTSI

View all 46 images

Mapk1tm1a(EUCOMM)Wtsi
back skin, HET, Female, WTSI
Mapk1tm1a(EUCOMM)Wtsi
back skin, HET, Female, WTSI
Mapk1tm1a(EUCOMM)Wtsi
eye, abnormal placement of pupils, abnormal pupil morphology, HET, Female, WTSI

Human diseases caused by Mapk1 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 Mapk1 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Distal 22Q11.2 Microdeletion Syndrome
Atrial septal defect, Ventricular septal defect, Branchial fistula, Intrauterine growth retardati... ORPHA:261330
Noonan Syndrome 13
Mitral valve prolapse, Atrial septal defect OMIM:619087

The table below shows human diseases predicted to be associated to Mapk1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Specific Language Impairment 2
Deficit in phonologic short-term memory OMIM:606712
Specific Language Impairment 1
Deficit in phonologic short-term memory OMIM:606711
Presenile Dementia, Kraepelin Type
Dementia OMIM:176600
Monoamine Oxidase A Deficiency
Cognitive impairment ORPHA:3057
Microangiopathy And Leukoencephalopathy, Pontine, Autosomal Dominant
Cognitive impairment, Dementia OMIM:618564
Alzheimer Disease 10
Dementia, Memory impairment OMIM:609636
Schizophrenia 19
Cognitive impairment OMIM:617629
Deafness, Autosomal Recessive 70, With Or Without Adult-Onset Neurodegeneration
Cognitive impairment OMIM:614934
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Ethanolaminosis
Cardiomegaly OMIM:227150
Cardiomyopathy, Dilated, 1I
Reduced left ventricular ejection fraction, Reduced systolic function, Congestive heart failure, ... OMIM:604765
Cardiomyopathy, Familial Hypertrophic, 27
Cardiac arrest, Left ventricular diastolic dysfunction, Cardiomyocyte hypertrophy, Concentric hyp... OMIM:618052
Pyknoachondrogenesis
Stillbirth OMIM:265880
Cardiomyopathy, Dilated, 1R
Interstitial cardiac fibrosis, Cardiomyocyte hypertrophy, Left ventricular hypertrophy, Left vent... OMIM:613424
Left Ventricular Noncompaction 7
Left ventricular noncompaction, Left ventricular noncompaction cardiomyopathy OMIM:615092
Fixed Subaortic Stenosis
Mitral regurgitation, Systolic heart murmur, Pulmonic stenosis, Bacterial endocarditis, Ventricul... ORPHA:3092
Attrv122I Amyloidosis
Abnormal EKG, Reduced left ventricular ejection fraction, Left ventricular hypertrophy, Arrhythmi... ORPHA:85451
Coronary Arterial Fistula
Abnormal EKG, Pulmonary arterial hypertension, Systolic heart murmur, Bacterial endocarditis, Atr... ORPHA:2041
Cardiomyopathy, Familial Hypertrophic, 4
Cardiac arrest, Reduced left ventricular ejection fraction, Syncope, Hepatomegaly, First degree a... OMIM:115197
Arterial Calcification, Generalized, Of Infancy, 2
Mitral regurgitation, Reduced left ventricular ejection fraction, Sinus tachycardia, Cardiogenic ... OMIM:614473
Attrv30M Amyloidosis
Arrhythmia, Cardiomyopathy, Cardiomegaly, Atrioventricular block ORPHA:85447
Isolated Right Ventricular Hypoplasia
Systolic heart murmur, Atrial septal defect, Right ventricular failure, Abnormal atrioventricular... ORPHA:439
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Cardiomegaly, Congestive heart failure OMIM:300886
Combined Oxidative Phosphorylation Deficiency 8
Cardiomegaly, Congestive heart failure, Reduced left ventricular ejection fraction, Hypertrophic ... OMIM:614096
Familial Atrial Myxoma
Bacterial endocarditis, Pulmonic valve myxoma, Tricuspid regurgitation, Congestive heart failure,... ORPHA:615
Congenitally Uncorrected Transposition Of The Great Arteries
Abnormal pulmonary valve morphology, Abnormality of blood circulation, Abnormal ventriculoarteria... ORPHA:860
Mitochondrial Complex I Deficiency, Nuclear Type 39
Hypertrophic cardiomyopathy, Cardiomegaly, Perimembranous ventricular septal defect, Atrial septa... OMIM:620135
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Cardiomyocyte hypertrophy, Left ventricular hypertrophy, Left ventricular noncompaction, Myofiber... OMIM:612158
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Cardiomegaly ORPHA:88643
Complete Atrioventricular Septal Defect
Pulmonary venous hypertension, Hepatomegaly, Complete atrioventricular canal defect, Abnormal EKG... ORPHA:1329
Congenital Myopathy 8
Cardiomegaly, Congestive heart failure OMIM:618654
Cirrhotic Cardiomyopathy
Left ventricular diastolic dysfunction, Third heart sound, Global systolic dysfunction, Left atri... ORPHA:57777
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Cardiomegaly, Hepatomegaly, Ventricular tachycardia, Dilated cardiomyopathy OMIM:600649
Congenital Tricuspid Valve Dysplasia
Systolic heart murmur, Abnormal tricuspid valve leaflet morphology, Tricuspid valve prolapse, Hep... ORPHA:555874
Danon Disease
Ventricular tachycardia, Wolff-Parkinson-White syndrome, Syncope, Severely reduced left ventricul... OMIM:300257
Familial Idiopathic Dilatation Of The Right Atrium
Paroxysmal atrial fibrillation, Reduced left ventricular ejection fraction, Syncope, Palpitations... ORPHA:1677
Naxos Disease
Prolonged QRS complex, Abnormal morphology of right ventricular trabeculae, Right ventricular car... OMIM:601214
Timothy Syndrome
Pulmonary arterial hypertension, Ventricular tachycardia, Tetralogy of Fallot, Ventricular septal... OMIM:601005
Ectodermal Dysplasia-Syndactyly Syndrome 2
Cardiomegaly OMIM:613576
Infantile Sialic Acid Storage Disease
Cardiomegaly, Congestive heart failure, Hepatomegaly, Splenomegaly OMIM:269920
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Cardiomegaly, Hepatomegaly, Pulmonary arterial hypertension OMIM:619064
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Pulmonary arterial hypertension, Tricuspid regurgitation, Ventricular hypertrophy, Hypertrophic c... OMIM:619051
Carnitine Deficiency, Systemic Primary
Mitral regurgitation, Cardiomyopathy, Hepatomegaly, Congestive heart failure, Hypertrophic cardio... OMIM:212140
Aorta Coarctation
Pulmonary arterial hypertension, Hypoplastic left heart, Tetralogy of Fallot, Hypertension, Perim... ORPHA:1457
Uruguay Faciocardiomusculoskeletal Syndrome
Mitral regurgitation, Left atrial enlargement, Left ventricular hypertrophy, Cardiomyopathy, Vent... OMIM:300280
Neurooculocardiogenitourinary Syndrome
Atrial septal defect, Ventricular septal defect, Tricuspid regurgitation, Patent foramen ovale, C... OMIM:618652
Mitochondrial Complex I Deficiency, Nuclear Type 36
Cardiomegaly, Perimembranous ventricular septal defect OMIM:619170
Hemochromatosis, Type 1
Arrhythmia, Cardiomyopathy, Hepatomegaly, Telangiectasia, Congestive heart failure, Cardiomegaly,... OMIM:235200
Combined Oxidative Phosphorylation Deficiency 10
Bradycardia, Cardiomegaly, Pericardial effusion, Hypertrophic cardiomyopathy OMIM:614702
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Mitral regurgitation, Tricuspid regurgitation, Aortic valve stenosis, Congestive heart failure, A... ORPHA:324410
Tropical Endomyocardial Fibrosis
Prolonged QRS complex, Reduced left ventricular ejection fraction, Pulmonary venous hypertension,... ORPHA:75565
Mulibrey Nanism
Hepatomegaly, Congestive heart failure, Pericardial constriction, Myocardial fibrosis, Cardiomegaly OMIM:253250
Glycogen Storage Disease Of Heart, Lethal Congenital
ST segment elevation, Prolonged QRS complex, Enlarged kidney, Increased myocardial glycogen conte... OMIM:261740
Congenital Toxoplasmosis
Cardiomegaly, Hepatomegaly ORPHA:858
Refsum Disease, Classic
Arrhythmia, Cardiomyopathy, Congestive heart failure, Cardiomegaly OMIM:266500
Mucopolysaccharidosis, Type Iiib
Asymmetric septal hypertrophy, Cardiomegaly, Hepatomegaly, Splenomegaly OMIM:252920
Neuraminidase Deficiency
Cardiomyopathy, Cardiomegaly, Hepatomegaly, Splenomegaly OMIM:256550
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Secundum atrial septal defect, Mitral regurgitation, Atrial septal defect, Ventricular septal def... OMIM:620066
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Reduced left ventricular ejection fraction, Hepatomegaly, Sudden cardiac death, Hypertrophic card... OMIM:201475
Combined Oxidative Phosphorylation Deficiency 33
Cardiac arrest, Left ventricular hypertrophy, Cardiomyopathy, Hepatomegaly, Cardiomegaly OMIM:617713
Carnitine Palmitoyltransferase I Deficiency
Arrhythmia, Cardiomegaly, Hepatomegaly OMIM:255120
Idiopathic Pulmonary Hemosiderosis
Hepatosplenomegaly, Diffuse alveolar hemorrhage, Hepatomegaly, Heart murmur, Cardiomegaly ORPHA:99931
Gaucher Disease, Type Iiic
Hepatomegaly, Mitral valve calcification, Splenomegaly, Cardiomegaly, Mitral stenosis, Aortic val... OMIM:231005
Familial Aortic Dissection
Cardiomegaly, Abnormal left ventricular function, Aortic regurgitation ORPHA:229
Arterial Calcification, Generalized, Of Infancy, 1
Hypertension, Congestive heart failure, Dilated cardiomyopathy, Myocardial infarction, Cardiomegaly OMIM:208000
Cantu Syndrome
Bicuspid aortic valve, Cardiomegaly, Pericardial effusion, Congenital hypertrophy of left ventricle OMIM:239850
Craniofaciofrontodigital Syndrome
Pulmonary arterial hypertension, Mitral regurgitation, Atrial septal defect, Ventricular septal d... ORPHA:363705
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Arrhythmia, Cardiomegaly, Hepatomegaly ORPHA:42
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Left ventricular hypertrophy, Left ventricular outflow tract obstruction, Hepatomegaly, Low-outpu... ORPHA:308552
Alpha-N-Acetylgalactosaminidase Deficiency
Cardiomegaly ORPHA:3137
Combined Oxidative Phosphorylation Deficiency 41
Cardiomegaly OMIM:618838
Absence Of The Pulmonary Artery
Abnormal EKG, Pulmonary arterial hypertension, Systolic heart murmur, Reduced left ventricular ej... ORPHA:980
Symptomatic Form Of Hfe-Related Hemochromatosis
Arrhythmia, Cardiomyopathy, Elevated jugular venous pressure, Hepatomegaly, Portal hypertension, ... ORPHA:465508
Pseudo-Torch Syndrome 3
Cardiomegaly, Hypertension, Cerebral hemorrhage OMIM:618886
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Cardiomegaly, Hypertension, Pulmonary arterial hypertension OMIM:613320
Hsd10 Disease, Infantile Type
Cardiomegaly, Hypertrophic cardiomyopathy ORPHA:391428
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Hypertrophic cardiomyopathy, Cardiomegaly, Ventricular septal defect OMIM:616897
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Abnormal EKG, Reduced left ventricular ejection fraction, Right ventricular hypertrophy, Cardiome... ORPHA:268
Heterotaxy, Visceral, 1, X-Linked
Hypoplastic left heart, Enlarged kidney, Ventricular septal defect, Atrial septal defect, Atriove... OMIM:306955
Congenital Disorder Of Glycosylation, Type It
Pulmonary arterial hypertension, Ventricular septal defect, Aborted sudden cardiac death, Hepatom... OMIM:614921
Histiocytoid Cardiomyopathy
Ventricular tachycardia, Wolff-Parkinson-White syndrome, Ventricular septal defect, Atrial fibril... ORPHA:137675
Glycogen Storage Disease Ii
Subarachnoid hemorrhage, Wolff-Parkinson-White syndrome, Right axis deviation, Sinus tachycardia,... OMIM:232300
Lethal Acantholytic Erosive Disorder
Hypovolemic shock, Cardiomyopathy, Impaired myocardial contractility, Cardiomegaly ORPHA:158687
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy
Cardiomyopathy, Congestive heart failure, Cardiomegaly OMIM:619259
Sandhoff Disease
Hepatosplenomegaly, Cardiomegaly, Hepatomegaly, Orthostatic hypotension OMIM:268800
Sickle Cell Disease
Cardiomegaly, Hypertension, Hepatomegaly, Splenomegaly OMIM:603903
Amyloidosis, Hereditary, Transthyretin-Related
Cardiomyopathy, Cardiomegaly, Orthostatic hypotension due to autonomic dysfunction OMIM:105210
Beck-Fahrner Syndrome
Cardiomegaly, Ventricular septal defect OMIM:618798
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Antenatal intracerebral hemorrhage, Enlarged kidney, Arrhythmia, Hepatomegaly, Dilated cardiomyop... OMIM:608836
Alpha-N-Acetylgalactosaminidase Deficiency Type 2
Telangiectasia of the oral mucosa, Cardiomegaly, Lip telangiectasia, Telangiectasia of the skin ORPHA:79280
Truncus Arteriosus
Pulmonic stenosis, Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Tachycar... ORPHA:3384
Histiocytosis-Lymphadenopathy Plus Syndrome
Hepatosplenomegaly, Pulmonary arterial hypertension, Pulmonic stenosis, Atrial septal defect, Ven... OMIM:602782
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Subarachnoid hemorrhage, Ischemic stroke, Hypertension, Aortic regurgitation, Bicuspid aortic val... ORPHA:91387
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Heart block, Arrhythmia, Cardiomyopathy, Hepatomegaly, Abnormal myocardium morphology, Cardiomegaly ORPHA:228308
Mogs-Cdg
Hepatosplenomegaly, Left ventricular hypertrophy, Atrial septal defect, Hepatomegaly, Cardiomegaly ORPHA:79330
Cantú Syndrome
Cardiomegaly, Abnormal heart valve morphology, Hypertrophic cardiomyopathy ORPHA:1517
Congenital Total Pulmonary Venous Return Anomaly
Atrial situs ambiguous, Hypoplastic left heart, Ventricular septal defect, Atrial septal defect, ... ORPHA:99125
Leigh Syndrome With Nephrotic Syndrome
Cardiomegaly ORPHA:255249
Fucosidosis
Cardiomegaly, Hepatomegaly ORPHA:349
Gaucher Disease, Perinatal Lethal
Hepatosplenomegaly, Cardiomegaly, Hepatomegaly, Splenomegaly OMIM:608013
Lethal Congenital Contracture Syndrome 10
Overriding aorta, Cardiomegaly, Ventricular septal defect OMIM:617022
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Left ventricular hypertrophy, Atrial septal defect, Bicuspid aortic valve, Patent foramen ovale, ... OMIM:245600
Mucolipidosis Ii Alpha/Beta
Mitral regurgitation, Enlarged kidney, Hepatomegaly, Aortic regurgitation, Congestive heart failu... OMIM:252500
Congenital Tracheomalacia
Pulmonary arterial hypertension, Atrial septal defect, Tetralogy of Fallot, Ventricular septal de... ORPHA:95430
Glycogen Storage Disease Due To Acid Maltase Deficiency
Vasculitis, Left ventricular hypertrophy, Left ventricular outflow tract obstruction, Hepatomegal... ORPHA:365
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome
Cardiomegaly, Mucosal telangiectasiae ORPHA:2463
Fucosidosis
Cardiomegaly, Hepatomegaly, Splenomegaly OMIM:230000
Mucopolysaccharidosis Type 3
Reduced left ventricular ejection fraction, Abnormal mitral valve morphology, Hepatomegaly, Abnor... ORPHA:581
Developmental And Epileptic Encephalopathy 95
Cardiomegaly, Hepatomegaly OMIM:618143
Ogden Syndrome
Secundum atrial septal defect, Pulmonary arterial hypertension, Ventricular tachycardia, Enlarged... OMIM:300855
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Left ventricular noncompaction cardiomyopathy, Atrial septal defect, Ventricular septal defect, L... OMIM:300967
Abetalipoproteinemia
Cardiomegaly, Congestive heart failure, Hepatomegaly ORPHA:14
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Hepatosplenomegaly, Cardiomegaly, Hepatomegaly, Ventricular hypertrophy OMIM:618278
Beckwith-Wiedemann Syndrome
Enlarged kidney, Cardiomyopathy, Hepatomegaly, Cardiomegaly, Pancreatic hyperplasia OMIM:130650
Bohring-Opitz Syndrome
Bradycardia, Abnormal cardiac septum morphology, Cardiomegaly ORPHA:97297
Aicardi-Goutières Syndrome
Hepatosplenomegaly, Cardiomegaly, Raynaud phenomenon, Hypertrophic cardiomyopathy ORPHA:51
Paternal Uniparental Disomy Of Chromosome 6
Cardiomegaly, Hepatomegaly, Ventricular septal defect ORPHA:96191
Williams Syndrome
Mitral regurgitation, Pulmonic stenosis, Tetralogy of Fallot, Ventricular septal defect, Atrial s... ORPHA:904
Yunis-Varon Syndrome
Pulmonary arterial hypertension, Ventricular septal defect, Atrial septal defect, Tetralogy of Fa... ORPHA:3472
Liver Disease, Severe Congenital
Systolic heart murmur, Left atrial enlargement, Ventricular septal defect, Atrial septal defect, ... OMIM:619991
Proteasome-Associated Autoinflammatory Syndrome 1
Arrhythmia, Hepatomegaly, Congestive heart failure, Cardiomegaly, Splenomegaly OMIM:256040
Beckwith-Wiedemann Syndrome
Enlarged kidney, Hepatomegaly, Hypertrophic cardiomyopathy, Cardiomegaly, Visceromegaly, Splenome... ORPHA:116
Generalized Arterial Calcification Of Infancy
Pulmonary arterial hypertension, Left ventricular systolic dysfunction, Hypertension, Weak pulse,... ORPHA:51608
Singleton-Merten Syndrome 1
Subvalvular aortic stenosis, Mitral valve calcification, Aortic valve stenosis, Congestive heart ... OMIM:182250
Distal 22Q11.2 Microdeletion Syndrome
Atrial septal defect, Ventricular septal defect, Branchial fistula, Intrauterine growth retardati... ORPHA:261330
Homozygous Familial Hypercholesterolemia
Myocardial steatosis, Abnormal tendon morphology, Tendon xanthomatosis ORPHA:391665
Noonan Syndrome 13
Mitral valve prolapse, Atrial septal defect OMIM:619087

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 Mapk1

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 Mapk1.

There are 2 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis. Nature communications (August 2019) Mapk1tm1a(EUCOMM)Wtsi Mapk10tm1a(EUCOMM)Wtsi PMC6671969
Mouse screen reveals multiple new genes underlying mouse and human hearing loss. PLoS biology (April 2019) Mapk1tm1a(EUCOMM)Wtsi Mapk10tm1a(EUCOMM)Wtsi PMC6459510

Order Mouse and ES Cells

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MGI Allele Allele Type Produced
Mapk1tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Mapk1tm42428(L1L2_Pgk_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Mapk1tm42428(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Mapk1tm42428(L1L2_Pgk_PM) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors

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