Gene Summary

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

IMPC Data Collections

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.

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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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 0.68% (4 of 584)
aorta 0.17% (1 of 584)
blood vessel 0.0%
bone 0.0%
brain 0.68% (4 of 584)
brainstem 0.34% (2 of 584)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 584)
cerebellum 0.51% (3 of 584)
cerebral cortex 0.34% (2 of 584)
eye 0.0%
gall bladder 0.0%
heart 0.34% (2 of 584)
hippocampus 0.51% (3 of 584)
hypothalamus 0.34% (2 of 584)
kidney 3.6% (21 of 584)
large intestine 1.71% (10 of 584)
liver 0.0%
lower urinary tract 0.17% (1 of 584)
lung 0.34% (2 of 584)
lymph node 0.17% (1 of 584)
mammary gland 0.0%
oesophagus 0.0%
olfactory lobe 0.34% (2 of 584)
ovary 0.17% (1 of 584)
oviduct 0.0%
pancreas 0.86% (5 of 584)
parathyroid gland 0.18% (1 of 562)
peripheral nervous system 0.34% (2 of 584)
peyer's patch 0.57% (1 of 176)
pituitary gland 0.17% (1 of 584)
prostate gland 2.05% (12 of 584)
skeletal muscle tissue 0.0%
skin 0.17% (1 of 584)
small intestine 1.54% (9 of 584)
spinal cord 0.51% (3 of 584)
spleen 0.51% (3 of 584)
stomach 2.05% (12 of 584)
striatum 0.51% (3 of 584)
testis 1.03% (6 of 584)
thymus 0.17% (1 of 584)
thyroid gland 2.74% (16 of 584)
trachea 0.51% (3 of 584)
uterus 0.0%
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

View all 46 images

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, Truncus arteriosus, Ventricular septal defect, Branchial fistula, Growth de... 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
Schizophrenia 19
Cognitive impairment OMIM:617629
Monoamine Oxidase A Deficiency
Cognitive impairment ORPHA:3057
Alzheimer Disease 10
Memory impairment, Dementia OMIM:609636
Microangiopathy And Leukoencephalopathy, Pontine, Autosomal Dominant
Cognitive impairment, Dementia OMIM:618564
Alg12-Cdg
Cognitive impairment ORPHA:79324
Schizophrenia
Social and occupational deterioration OMIM:181500
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Ethanolaminosis
Cardiomegaly OMIM:227150
Epilepsy, Progressive Myoclonic, 8
Cognitive impairment, Dementia OMIM:616230
Pyknoachondrogenesis
Stillbirth OMIM:265880
Cardiomyopathy, Familial Hypertrophic 27
Mitral regurgitation, Prolonged QT interval, Cardiomegaly, Tricuspid regurgitation OMIM:618052
Cardiomyopathy, Familial Hypertrophic, 25
Dilated cardiomyopathy, Left ventricular hypertrophy, Wolff-Parkinson-White syndrome OMIM:607487
Cardiomyopathy, Familial Hypertrophic, 20
Atrial fibrillation, Left ventricular hypertrophy, Cardiomyopathy OMIM:613876
Left Ventricular Noncompaction 7
Left ventricular noncompaction, Left ventricular noncompaction cardiomyopathy OMIM:615092
Cardiomyopathy, Familial Hypertrophic, 4
Ventricular hypertrophy, Pericardial effusion, Syncope, Hepatomegaly, Left bundle branch block, A... OMIM:115197
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 8
Memory impairment, Frontotemporal dementia, Dementia OMIM:619132
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Atrial flutter, Congestive heart failure, Cardiomegaly OMIM:300886
Left Ventricular Noncompaction 10
Dilated cardiomyopathy, Left ventricular noncompaction OMIM:615396
Attrv30M Amyloidosis
Atrioventricular block, Arrhythmia, Cardiomegaly, Cardiomyopathy ORPHA:85447
Cardiomyopathy, Dilated, 1R
Dilated cardiomyopathy, Restrictive cardiomyopathy, Left ventricular hypertrophy, Left ventricula... OMIM:613424
Familial Atrial Myxoma
Cardiac myxoma, Tricuspid regurgitation, Pulmonic valve myxoma, Congestive heart failure, Heart m... ORPHA:615
Danon Disease
Myocardial fibrosis, Myocardial necrosis, Arrhythmia, Wolff-Parkinson-White syndrome, Cardiomegal... OMIM:300257
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Cardiomegaly ORPHA:88643
Combined Oxidative Phosphorylation Deficiency 33
Hepatomegaly, Left ventricular hypertrophy, Cardiomegaly, Cardiomyopathy OMIM:617713
Myopathy, Congenital, With Structured Cores And Z-Line Abnormalities
Congestive heart failure, Cardiomegaly OMIM:618654
Complete Atrioventricular Septal Defect
Elevated pulmonary artery pressure, Displacement of the papillary muscles, Cardiomegaly, Abnormal... ORPHA:1329
Congenital Tricuspid Valve Dysplasia
Anomalous pulmonary venous return, Abnormal tricuspid valve leaflet morphology, Pericardial effus... ORPHA:555874
Naxos Disease
Ventricular arrhythmia, Palpitations, Prolonged QRS complex, T-wave inversion, Ventricular extras... OMIM:601214
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Hepatomegaly, Dilated cardiomyopathy, Cardiomegaly, Ventricular tachycardia OMIM:600649
Aorta Coarctation
Abnormal left ventricular outflow tract morphology, Aortic valve atresia, Hypertension, Perimembr... ORPHA:1457
Timothy Syndrome
Ventricular septal defect, Prolonged QT interval, Cardiomegaly, Patent foramen ovale, Tetralogy o... OMIM:601005
Glycogen Storage Disease Of Heart, Lethal Congenital
Hypotension, Biventricular hypertrophy, Congestive heart failure, Shortened PR interval, Cardiome... OMIM:261740
Carnitine Deficiency, Systemic Primary
Endocardial fibroelastosis, Hepatomegaly, Congestive heart failure, Cardiomegaly, Hypertrophic ca... OMIM:212140
Ectodermal Dysplasia-Syndactyly Syndrome 2
Cardiomegaly OMIM:613576
Hemochromatosis, Type 1
Arrhythmia, Hepatomegaly, Congestive heart failure, Cardiomegaly, Splenomegaly, Telangiectasia, C... OMIM:235200
Infantile Sialic Acid Storage Disease
Hepatomegaly, Congestive heart failure, Cardiomegaly, Splenomegaly OMIM:269920
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Hepatomegaly, Pulmonary arterial hypertension, Cardiomegaly OMIM:619064
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Atrial flutter, Abnormal atrioventricular valve morphology, Tricuspid regurgitation, Aortic valve... ORPHA:324410
Tropical Endomyocardial Fibrosis
Atrial flutter, P pulmonale, Tricuspid regurgitation, Abnormal T-wave, Cardiomegaly, Cardiogenic ... ORPHA:75565
Refsum Disease, Classic
Congestive heart failure, Cardiomegaly, Cardiomyopathy, Arrhythmia OMIM:266500
Neurooculocardiogenitourinary Syndrome
Atrial septal defect, Ventricular septal defect, Tricuspid regurgitation, Cardiomegaly, Patent fo... OMIM:618652
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Ventricular hypertrophy, Tricuspid regurgitation, Cardiomegaly, Pulmonary arterial hypertension, ... OMIM:619051
Mulibrey Nanism
Myocardial fibrosis, Hepatomegaly, Congestive heart failure, Cardiomegaly, Pericardial constriction OMIM:253250
Mucopolysaccharidosis, Type Iiib
Hepatomegaly, Asymmetric septal hypertrophy, Cardiomegaly, Splenomegaly OMIM:252920
Mitochondrial Complex I Deficiency, Nuclear Type 36
Perimembranous ventricular septal defect, Cardiomegaly OMIM:619170
Congenital Toxoplasmosis
Hepatomegaly, Cardiomegaly ORPHA:858
Neuraminidase Deficiency
Hepatomegaly, Cardiomegaly, Cardiomyopathy, Splenomegaly OMIM:256550
Carnitine Palmitoyltransferase I Deficiency
Hepatomegaly, Arrhythmia, Cardiomegaly OMIM:255120
Gaucher Disease, Type Iiic
Mitral valve calcification, Hepatomegaly, Cardiomegaly, Mitral stenosis, Splenomegaly, Aortic val... OMIM:231005
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Reduced ejection fraction, Hepatomegaly, Sudden cardiac death, Cardiomegaly, Hypertrophic cardiom... OMIM:201475
Cantu Syndrome
Congenital hypertrophy of left ventricle, Pericardial effusion, Cardiomegaly, Bicuspid aortic valve OMIM:239850
Amyloidosis, Hereditary, Transthyretin-Related
Cardiomegaly, Cardiomyopathy, Orthostatic hypotension due to autonomic dysfunction OMIM:105210
Familial Aortic Dissection
Abnormal left ventricular function, Cardiomegaly, Aortic regurgitation ORPHA:229
Alpha-N-Acetylgalactosaminidase Deficiency
Cardiomegaly ORPHA:3137
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Arrhythmia, Cardiomegaly ORPHA:42
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Left ventricular outflow tract obstruction, Hepatomegaly, Heart murmur, Shortened PR interval, Le... ORPHA:308552
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Pulmonary arterial hypertension, Cardiomegaly, Hypertension OMIM:613320
Symptomatic Form Of Hemochromatosis Type 1
Arrhythmia, Elevated jugular venous pressure, Hepatomegaly, Congestive heart failure, Cardiomegal... ORPHA:465508
Combined Oxidative Phosphorylation Deficiency 41
Cardiomegaly OMIM:618838
Pseudo-Torch Syndrome 3
Cerebral hemorrhage, Cardiomegaly, Hypertension OMIM:618886
Glycogen Storage Disease Ii
Wolff-Parkinson-White syndrome, Hepatomegaly, Shortened PR interval, Cardiomegaly, Splenomegaly OMIM:232300
Hsd10 Disease, Infantile Type
Cardiomegaly, Hypertrophic cardiomyopathy ORPHA:391428
Heterotaxy, Visceral, 1, X-Linked
Atrial septal defect, Single ventricle, Ventricular septal defect, Mitral atresia, Dextrocardia, ... OMIM:306955
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Reduced ejection fraction, Right ventricular hypertrophy, Cardiomegaly, Right bundle branch block... ORPHA:268
Sickle Cell Anemia
Hepatomegaly, Cardiomegaly, Hypertension, Splenomegaly OMIM:603903
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Ventricular septal defect, Cardiomegaly, Hypertrophic cardiomyopathy OMIM:616897
Histiocytoid Cardiomyopathy
Ventricular septal defect, Wolff-Parkinson-White syndrome, Atrial flutter, Atrial fibrillation, V... ORPHA:137675
Lethal Acantholytic Erosive Disorder
Impaired myocardial contractility, Hypovolemic shock, Cardiomegaly, Cardiomyopathy ORPHA:158687
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy
Congestive heart failure, Cardiomegaly, Cardiomyopathy OMIM:619259
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Antenatal intracerebral hemorrhage, Arrhythmia, Enlarged kidney, Hepatomegaly, Cardiomegaly, Dila... OMIM:608836
Lethal Congenital Contracture Syndrome 10
Overriding aorta, Cardiomegaly, Ventricular septal defect OMIM:617022
Alpha-N-Acetylgalactosaminidase Deficiency Type 2
Telangiectasia of the skin, Cardiomegaly, Lip telangiectasia, Telangiectasia of the oral mucosa ORPHA:79280
Sandhoff Disease
Hepatomegaly, Hepatosplenomegaly, Cardiomegaly, Orthostatic hypotension OMIM:268800
Truncus Arteriosus
Atrial septal defect, Truncus arteriosus, Aortic regurgitation, Abnormal heart morphology, Abnorm... ORPHA:3384
Histiocytosis-Lymphadenopathy Plus Syndrome
Atrial septal defect, Ventricular septal defect, Hepatomegaly, Pulmonic stenosis, Cardiomegaly, S... OMIM:602782
Beck-Fahrner Syndrome
Cardiomegaly, Ventricular septal defect OMIM:618798
Hypertrichotic Osteochondrodysplasia, Cantu Type
Abnormal heart valve morphology, Cardiomegaly, Hypertrophic cardiomyopathy ORPHA:1517
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Arrhythmia, Hepatomegaly, Cardiomegaly, Heart block, Abnormal myocardium morphology, Cardiomyopathy ORPHA:228308
Congenital Total Pulmonary Venous Return Anomaly
Cardiac total anomalous pulmonary venous connection, Single ventricle, Atrial situs ambiguous, Tr... ORPHA:99125
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Ischemic stroke, Aortic regurgitation, Hypovolemia, Subarachnoid hemorrhage, Abnormal left ventri... ORPHA:91387
Mucolipidosis Ii Alpha/Beta
Aortic regurgitation, Hepatomegaly, Heart murmur, Congestive heart failure, Cardiomegaly, Splenom... OMIM:252500
Fucosidosis
Hepatomegaly, Cardiomegaly ORPHA:349
Craniofaciofrontodigital Syndrome
Cardiomegaly, Abnormal heart morphology OMIM:114620
Gaucher Disease, Perinatal Lethal
Hepatomegaly, Hepatosplenomegaly, Cardiomegaly, Splenomegaly OMIM:608013
Fucosidosis
Hepatomegaly, Cardiomegaly, Splenomegaly OMIM:230000
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome
Mucosal telangiectasiae, Cardiomegaly ORPHA:2463
Leigh Syndrome With Nephrotic Syndrome
Cardiomegaly ORPHA:255249
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Atrial septal defect, Cardiomegaly, Left ventricular hypertrophy, Bicuspid aortic valve, Patent f... OMIM:245600
Glycogen Storage Disease Due To Acid Maltase Deficiency
Left ventricular outflow tract obstruction, Hepatomegaly, Heart murmur, Shortened PR interval, Le... ORPHA:365
Mucopolysaccharidosis Type 3
Reduced ejection fraction, Abnormal mitral valve morphology, Abnormal aortic valve morphology, He... ORPHA:581
Developmental And Epileptic Encephalopathy 95
Hepatomegaly, Cardiomegaly OMIM:618143
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Hepatomegaly, Cardiomegaly OMIM:618278
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Atrial septal defect, Ventricular septal defect, Right ventricular hypertrophy, Cardiomegaly, Lef... OMIM:300967
Abetalipoproteinemia
Hepatomegaly, Congestive heart failure, Cardiomegaly ORPHA:14
Greenberg Dysplasia
Hepatomegaly, Hepatosplenomegaly, Cardiomegaly OMIM:215140
Bohring-Opitz Syndrome
Abnormal cardiac septum morphology, Bradycardia, Cardiomegaly ORPHA:97297
Beckwith-Wiedemann Syndrome
Enlarged kidney, Hepatomegaly, Pancreatic hyperplasia, Cardiomegaly, Cardiomyopathy OMIM:130650
Visceral Steatosis, Congenital
Neonatal death, Myocardial steatosis OMIM:228100
Paternal Uniparental Disomy Of Chromosome 6
Hepatomegaly, Cardiomegaly, Ventricular septal defect ORPHA:96191
Aicardi-Goutières Syndrome
Hepatosplenomegaly, Cardiomegaly, Raynaud phenomenon, Hypertrophic cardiomyopathy ORPHA:51
Williams Syndrome
Atrial septal defect, Ventricular septal defect, Abnormal endocardium morphology, Renovascular hy... ORPHA:904
Yunis-Varon Syndrome
Atrial septal defect, Ventricular septal defect, Renovascular hypertension, Hypertension, Cardiom... ORPHA:3472
Proteasome-Associated Autoinflammatory Syndrome 1
Arrhythmia, Hepatomegaly, Congestive heart failure, Cardiomegaly, Splenomegaly OMIM:256040
Beckwith-Wiedemann Syndrome
Enlarged kidney, Visceromegaly, Hepatomegaly, Cardiomegaly, Splenomegaly, Hypertrophic cardiomyop... ORPHA:116
Generalized Arterial Calcification Of Infancy
Ventricular hypertrophy, Left ventricular systolic dysfunction, Pericardial effusion, Myocardial ... ORPHA:51608
Singleton-Merten Syndrome 1
Mitral valve calcification, Aortic valve stenosis, Congestive heart failure, Cardiomegaly, Aortic... OMIM:182250
Homozygous Familial Hypercholesterolemia
Abnormal tendon morphology, Myocardial steatosis, Tendon xanthomatosis ORPHA:391665
Distal 22Q11.2 Microdeletion Syndrome
Atrial septal defect, Truncus arteriosus, Ventricular septal defect, Branchial fistula, Growth de... ORPHA:261330
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

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

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