Gene Summary

Name:
mitogen-activated protein kinase kinase 1
Synonyms:
Prkmk1,  Mek1,  MAP kinase kinase 1

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
decreased circulating bilirubin level em1(IMPC)H HET   Early adult 2.18×10-05

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Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Map2k1 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 Map2k1 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Cardiofaciocutaneous Syndrome
Biparietal narrowing, Aplasia/Hypoplasia of the eyebrow, Abnormal eyelash morphology, Ptosis, Dow... ORPHA:1340
Cardiofaciocutaneous Syndrome 3
OMIM:615279
Melorheostosis, Isolated
OMIM:155950

The table below shows human diseases predicted to be associated to Map2k1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Pulmonary Atresia With Intact Ventricular Septum
Pulmonary artery atresia OMIM:265150
Supravalvular Aortic Stenosis
Peripheral arterial stenosis, Pulmonary artery stenosis OMIM:185500
Macrocephaly, Benign Familial
Biparietal narrowing, Frontal bossing, Macrocephaly, Dolichocephaly OMIM:153470
Pulmonary Atresia With Ventricular Septal Defect
Pulmonary artery atresia OMIM:178370
Heparin Cofactor Ii Deficiency
Post-angioplasty coronary artery restenosis OMIM:612356
Ventricular Septal Defect 3
Pulmonary artery stenosis, Patent ductus arteriosus OMIM:614432
Deafness, Congenital Heart Defects, And Posterior Embryotoxon
Tetralogy of Fallot, Peripheral pulmonary artery stenosis OMIM:617992
Non-Distal Monosomy 10Q
Biparietal narrowing, Upslanted palpebral fissure, Ptosis, Synophrys, Epicanthus ORPHA:1581
Pulmonary Atresia-Intact Ventricular Septum Syndrome
Pulmonary artery atresia, Patent ductus arteriosus ORPHA:1208
Ptosis-Upper Ocular Movement Limitation-Absence Of Lacrimal Punctum Syndrome
Biparietal narrowing, Absent lacrimal punctum, Absent eyelashes, Thick eyebrow, Ptosis, Highly ar... ORPHA:228396
Atrioventricular Septal Defect, Susceptibility To, 2
Right aortic arch with mirror image branching, Pulmonary artery atresia OMIM:606217
Macrocephaly/Autism Syndrome
Biparietal narrowing, Frontal bossing, Postnatal macrocephaly OMIM:605309
1Q44 Microdeletion Syndrome
Biparietal narrowing, Upslanted palpebral fissure, Microcephaly, Frontal bossing, Synophrys, Epic... ORPHA:238769
Immunodeficiency 49
Upslanted palpebral fissure, Wormian bones, Short palpebral fissure, Pulmonary artery stenosis OMIM:617237
Placental Insufficiency
Abnormal placenta morphology, Eclampsia, Maternal hypertension, Small placenta, Preeclampsia, Abn... ORPHA:439167
Tetraploidy
Biparietal narrowing, Microcephaly, Aplasia/Hypoplasia of the lungs ORPHA:3305
8P23.1 Microdeletion Syndrome
Biparietal narrowing, Upslanted palpebral fissure, Tetralogy of Fallot, Patent ductus arteriosus,... ORPHA:251071
Toluene Embryopathy
Epicanthus, Short palpebral fissure, Microcephaly, Biparietal narrowing ORPHA:1920
Factor V Excess With Spontaneous Thrombosis
Peripheral arterial stenosis OMIM:134400
Isotretinoin Syndrome
Biparietal narrowing ORPHA:2305
Fetal Alcohol Syndrome
Biparietal narrowing, Ptosis, Microcephaly, Epicanthus, Telecanthus ORPHA:1915
Lig4 Syndrome
Biparietal narrowing, Upslanted palpebral fissure, Microcephaly, Brachycephaly, Epicanthus, Telec... ORPHA:99812
Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome
Microcephaly, Biparietal narrowing, Abnormal eyelash morphology ORPHA:2518
Camptodactyly-Joint Contractures-Facial Skeletal Defects Syndrome
Biparietal narrowing, Abnormality of calvarial morphology, Ptosis ORPHA:1323
Intellectual Disability, Buenos-Aires Type
Biparietal narrowing, Downslanted palpebral fissures, Microcephaly, Blepharophimosis, Abnormality... ORPHA:3079
Hyperphosphatasia With Mental Retardation Syndrome 2
Upslanted palpebral fissure, Plagiocephaly, Left unicoronal synostosis, Peripheral pulmonary arte... OMIM:614749
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome
Epicanthus, Biparietal narrowing, Downslanted palpebral fissures ORPHA:1770
Brachymorphism-Onychodysplasia-Dysphalangism Syndrome
Biparietal narrowing, Thick eyebrow, Microcephaly, Frontal bossing, Brachycephaly, Epicanthus ORPHA:1292
3Q29 Microduplication Syndrome
Biparietal narrowing, Craniosynostosis, Downslanted palpebral fissures, Microcephaly, Large fonta... ORPHA:251038
Peho Syndrome
Biparietal narrowing, Palpebral edema, Midface retrusion, Microcephaly, Recurrent respiratory inf... ORPHA:2836
Keutel Syndrome
Recurrent sinusitis, Recurrent respiratory infections, Pulmonary artery stenosis, Midface retrusion ORPHA:85202
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome
Biparietal narrowing, Blepharophimosis, Ptosis ORPHA:2031
Tricuspid Atresia
Persistent left superior vena cava, Pulmonary artery atresia, Coarctation of aorta, Transposition... ORPHA:1209
X-Linked Intellectual Disability, Cabezas Type
Biparietal narrowing, Downslanted palpebral fissures, Microcephaly, Synophrys, Epicanthus, Blepha... ORPHA:85293
Ogden Syndrome
Aplasia/Hypoplasia of the eyebrow, Downslanted palpebral fissures, Frontal bossing, Delayed crani... ORPHA:276432
Spongiform Encephalopathy With Neuropsychiatric Features
Gliosis OMIM:606688
Cranioectodermal Dysplasia 3
Dolichocephaly, Sagittal craniosynostosis, Peripheral pulmonary artery stenosis, Frontal bossing,... OMIM:614099
Truncus Arteriosus
Tetralogy of Fallot, Anomalous origin of the left common carotid artery from the brachiocephalic ... ORPHA:3384
Mucolipidosis Type Iv
Microcephaly, Biparietal narrowing ORPHA:578
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome
Microcephaly, Upslanted palpebral fissure, Turricephaly, Biparietal narrowing ORPHA:1005
Ogden Syndrome
Long eyelashes, Sparse eyebrow, Palpebral thickening, Downslanted palpebral fissures, Microcephal... OMIM:300855
15Q14 Microdeletion Syndrome
Microcephaly, Biparietal narrowing ORPHA:261190
Congenital Heart Defects, Multiple Types, 7
Tetralogy of Fallot, Right aortic arch, Pulmonary artery atresia, Double aortic arch, Aortopulmon... OMIM:618780
Linear Nevus Sebaceus Syndrome
Prominent occiput, Biparietal narrowing, Plagiocephaly, Frontal bossing, Telecanthus ORPHA:2612
Mitochondrial Complex Iv Deficiency, Nuclear Type 6
Gliosis, Microcephaly OMIM:615119
X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome
Microcephaly, Pulmonary artery stenosis ORPHA:435938
Joubert Syndrome With Oculorenal Defect
Biparietal narrowing, Ptosis, Highly arched eyebrow ORPHA:2318
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction
Left superior vena cava draining directly to the left atrium, Pulmonary artery atresia OMIM:613759
Joubert Syndrome With Renal Defect
Biparietal narrowing, Ptosis, Highly arched eyebrow ORPHA:220497
Joubert Syndrome
Biparietal narrowing, Ptosis, Highly arched eyebrow ORPHA:475
Aortic Aneurysm, Familial Thoracic 6
Moyamoya phenomenon, Thoracic aortic aneurysm, Descending aortic dissection, Aortic aneurysm, Asc... OMIM:611788
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome
Upslanted palpebral fissure, Pulmonary artery stenosis ORPHA:75389
Van Esch-O'Driscoll Syndrome
Microcephaly, Upslanted palpebral fissure, Pulmonary artery stenosis OMIM:301030
Congenital Heart Defects, Multiple Types, 6
Tetralogy of Fallot, Total anomalous pulmonary venous return, Double outlet right ventricle, Coar... OMIM:613854
Arterial Tortuosity Syndrome
Short palpebral fissure, Craniosynostosis, Aortic root aneurysm, Aortic dissection, Aortic aneury... ORPHA:3342
Kleefstra Syndrome
Upslanted palpebral fissure, Tetralogy of Fallot, Coarctation of aorta, Highly arched eyebrow, Mi... ORPHA:261494
16Q24.3 Microdeletion Syndrome
Biparietal narrowing, Upslanted palpebral fissure, Frontal bossing, Highly arched eyebrow ORPHA:261250
Lathosterolosis
Biparietal narrowing, Ptosis, Microcephaly, Downslanted palpebral fissures, Epicanthus, Prominent... ORPHA:46059
Joubert Syndrome With Ocular Defect
Biparietal narrowing, Ptosis, Highly arched eyebrow ORPHA:220493
Cardiofaciocutaneous Syndrome
Biparietal narrowing, Aplasia/Hypoplasia of the eyebrow, Abnormal eyelash morphology, Ptosis, Dow... ORPHA:1340
Mosaic Trisomy 9
Prominent occiput, Upslanted palpebral fissure, Biparietal narrowing, Patent ductus arteriosus, M... ORPHA:99776
Hadziselimovic Syndrome
Tetralogy of Fallot, Ptosis, Microcephaly, Pulmonary artery atresia, Epicanthus OMIM:612946
Fadd-Related Immunodeficiency
Pulmonary artery atresia ORPHA:306550
Right Pulmonary Artery, Anomalous Origin Of, Familial
Anomalous origin of right pulmonary artery from ascending aorta, Coarctation of aorta, Patent duc... OMIM:610338
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2
Upslanted palpebral fissure, Craniosynostosis, Patent ductus arteriosus, Aortic root aneurysm, Sp... OMIM:617506
Arterial Tortuosity Syndrome
Blepharophimosis, Generalized arterial tortuosity, Downslanted palpebral fissures, Pulmonary arte... OMIM:208050
Focal Cortical Dysplasia, Type Ii
Astrocytosis OMIM:607341
Progressive Multifocal Leukoencephalopathy
Abnormal oligodendroglia morphology, Abnormal astrocyte morphology ORPHA:217260
Monosomy 18Q
Biparietal narrowing, Patent ductus arteriosus, Downslanted palpebral fissures, Aortic aneurysm, ... ORPHA:1600
Intellectual Developmental Disorder, X-Linked, Syndromic, 35
Epicanthus, Microcephaly, Dolichocephaly, Pulmonary artery stenosis OMIM:300998
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations
Telecanthus, Craniosynostosis, Peripheral pulmonary artery stenosis OMIM:300707
Atrial Septal Defect 8
Anomalous pulmonary venous return OMIM:614433
Alagille Syndrome 2
Tetralogy of Fallot, Peripheral pulmonary artery stenosis OMIM:610205
Silver-Russell Syndrome Due To A Point Mutation
Oligohydramnios, Small placenta ORPHA:397590
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Small placenta ORPHA:73272
Distal 22Q11.2 Microduplication Syndrome
Biparietal narrowing, Upslanted palpebral fissure, Patent ductus arteriosus, Palpebral edema, Dow... ORPHA:261337
Joubert Syndrome With Hepatic Defect
Biparietal narrowing, Macrocephaly, Ptosis, Highly arched eyebrow ORPHA:1454
Oculofaciocardiodental Syndrome
Peripheral pulmonary artery stenosis, Ptosis, Patent ductus arteriosus, Highly arched eyebrow ORPHA:2712
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Tetralogy of Fallot, Patent ductus arteriosus, Double outlet right ventricle, Highly arched eyebr... OMIM:618316
Aortic Aneurysm, Familial Thoracic 4
Posterior cerebral artery stenosis, Thoracic aortic aneurysm, Patent ductus arteriosus, Descendin... OMIM:132900
Alagille Syndrome
Downslanted palpebral fissures, Frontal bossing, Brachycephaly, Peripheral pulmonary artery stenosis ORPHA:52
Heterotaxy, Visceral, 4, Autosomal
Total anomalous pulmonary venous return, Dextrotransposition of the great arteries, Interrupted i... OMIM:613751
X-Linked Intellectual Disability, Nascimento Type
Upslanted palpebral fissure, Tetralogy of Fallot, Patent ductus arteriosus, Peripheral pulmonary ... ORPHA:163956
Orofaciodigital Syndrome Type 6
Epicanthus, Biparietal narrowing, Frontal bossing, Highly arched eyebrow ORPHA:2754
14Q24.1Q24.3 Microdeletion Syndrome
Truncus arteriosus, Midface retrusion, Downslanted palpebral fissures, Pulmonary artery atresia, ... ORPHA:401935
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Mental Retardation, And Ear Anomalies Syndrome
Plagiocephaly, Tetralogy of Fallot, Peripheral pulmonary artery stenosis, Frontal bossing, Brachy... OMIM:280000
Familial Aortic Dissection
Mucoid extracellular matrix accumulation, Patent ductus arteriosus, Aortic root aneurysm, Descend... ORPHA:229
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Biparietal narrowing, Recurrent respiratory infections ORPHA:935
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Anomalous origin of right pulmonary artery from ascending aorta, Tetralogy of Fallot, Abnormal ao... ORPHA:99050
Cutis Laxa, Autosomal Recessive, Type Ic
Emphysema, Midface retrusion, Pulmonary artery stenosis, Vascular dilatation, Pulmonary hypoplasia OMIM:613177
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs
Pulmonary hypoplasia, Bilateral lung agenesis, Pulmonary artery stenosis OMIM:611812
Pelizaeus-Merzbacher Disease
Reduction of oligodendroglia, Microcephaly OMIM:312080
Encephalocraniocutaneous Lipomatosis
Limbal dermoid, Peripheral pulmonary artery stenosis, Eyelid coloboma OMIM:613001
Heterotaxy, Visceral, 8, Autosomal
Pulmonary artery atresia, Double outlet right ventricle OMIM:617205
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation
Polyhydramnios, Large placenta, Umbilical hernia ORPHA:254534
Omodysplasia 1
Popliteal pterygium, Frontal bossing, Narrow palpebral fissure, Pulmonary artery stenosis, Axilla... OMIM:258315
Pulmonary Hypertension, Primary, 1
Pulmonary aterial intimal fibrosis, Pulmonary arterial medial hypertrophy, Arterial intimal fibro... OMIM:178600
Contractures-Developmental Delay-Pierre Robin Syndrome
Downslanted palpebral fissures, Peripheral pulmonary artery stenosis ORPHA:436003
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Tetralogy of Fallot, Patent ductus arteriosus, Partial anomalous pulmonary venous return, Pulmona... OMIM:265380
Autosomal Recessive Cutis Laxa Type 1
Emphysema, Recurrent pneumonia, Dilatation of the ventricular cavity, Peripheral pulmonary artery... ORPHA:90349
Smith-Lemli-Opitz Syndrome
Biparietal narrowing, Upslanted palpebral fissure, Patent ductus arteriosus, Abnormal eyelash mor... ORPHA:818
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome
Prominent occiput, Upslanted palpebral fissure, Blepharitis, Patent ductus arteriosus, Aortic roo... ORPHA:280633
Motor Neuron Disease With Dementia And Ophthalmoplegia
Astrocytosis OMIM:600333
Cardiac Diverticulum
Tetralogy of Fallot, Patent ductus arteriosus, Pulmonary artery hypoplasia, Partial anomalous pul... ORPHA:1686
Recombinant 8 Syndrome
Tetralogy of Fallot, Pulmonary artery stenosis, Patent ductus arteriosus ORPHA:96167
Autosomal Dominant Cutis Laxa
Emphysema, Wormian bones, Bronchiolitis, Dilatation of the ventricular cavity, Peripheral pulmona... ORPHA:90348
Primary Pulmonary Hypoplasia
Epicanthus, Microcephaly, Recurrent respiratory infections, Pneumothorax, Abnormal pulmonary arte... ORPHA:2257
Brachytelephalangic Chondrodysplasia Punctata
Recurrent respiratory infections, Pulmonary artery stenosis, Patent ductus arteriosus ORPHA:79345
Noonan Syndrome
Downslanted palpebral fissures, Ptosis, Pulmonary artery stenosis, Midface retrusion ORPHA:648
Relapsing Polychondritis
Biparietal narrowing, Conjunctivitis, Vascular dilatation, Large vessel vasculitis ORPHA:728
Trisomy 8P
Upslanted palpebral fissure, Tetralogy of Fallot, Recurrent upper respiratory tract infections, M... ORPHA:264450
Scimitar Syndrome
Bronchogenic cyst, Tetralogy of Fallot, Pulmonary sequestration, Pulmonary artery hypoplasia, Pat... ORPHA:185
Sporadic Creutzfeldt-Jakob Disease
Gliosis, Recurrent aspiration pneumonia, Astrocytosis ORPHA:204
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects
Tetralogy of Fallot, Pulmonary artery atresia OMIM:108900
Syndactyly-Telecanthus-Anogenital And Renal Malformations Syndrome
Telecanthus, Pulmonary artery stenosis, Eyelid coloboma ORPHA:140952
X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome
Dolichocephaly, Dilatation of the ventricular cavity, Microcephaly, Narrow palpebral fissure, Pul... ORPHA:459070
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities
Recurrent respiratory infections, Macrocephaly, Peripheral pulmonary artery stenosis OMIM:619575
Phaver Syndrome
Pterygium, Epicanthus, Coarctation of aorta, Downslanted palpebral fissures, Pulmonary artery atr... ORPHA:2876
Meester-Loeys Syndrome
Pulmonary artery aneurysm, Aortic dissection, Relative macrocephaly, Downslanted palpebral fissur... OMIM:300989
Werner Syndrome
Atherosclerosis, Neoplasm of the lung, Pulmonary artery stenosis ORPHA:902
C Syndrome
Biparietal narrowing, Upslanted palpebral fissure, Microcephaly, Epicanthus, Trigonocephaly ORPHA:1308
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Short palpebral fissure, Wormian bones, Abnormal aortic arch morphology, Plagiocephaly, Microceph... ORPHA:96334
Autosomal Recessive Malignant Osteopetrosis
Recurrent respiratory infections, Macrocephaly, Craniosynostosis, Pulmonary artery stenosis ORPHA:667
Progressive Non-Fluent Aphasia
Astrocytosis ORPHA:100070
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7
Astrocytosis OMIM:600795
Adams-Oliver Syndrome 1
Microcephaly, Tetralogy of Fallot, Calvarial skull defect, Pulmonary artery stenosis OMIM:100300
Heart Defects, Congenital, And Other Congenital Anomalies
Truncus arteriosus, Tetralogy of Fallot, Patent ductus arteriosus, Microcephaly, Pulmonary artery... OMIM:600001
Fetal Akinesia Deformation Sequence 1
Short umbilical cord, Fetal akinesia sequence, Polyhydramnios, Small placenta, Premature birth, S... OMIM:208150
Photomyoclonus, Diabetes Mellitus, Deafness, Nephropathy, And Cerebral Dysfunction
Astrocytosis OMIM:172500
Aniridia-Cerebellar Ataxia-Intellectual Disability Syndrome
Abnormality of the pulmonary artery ORPHA:1065
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Craniosynostosis, Double outlet right ventricle, Metopic synostosis, Downslanted palpebral fissur... OMIM:301056
Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy
Macrocephaly, Astrocytosis OMIM:611087
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature
Varicose veins, Peripheral arterial stenosis, Distichiasis, Patent ductus arteriosus OMIM:126320
Velocardiofacial Syndrome
Tetralogy of Fallot, Blepharophimosis, Unilateral primary pulmonary dysgenesis, Microcephaly, Pul... OMIM:192430
Aminopterin/Methotrexate Embryofetopathy
Epicanthus, Microcephaly, Tetralogy of Fallot, Pulmonary artery atresia ORPHA:1908
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Tetralogy of Fallot, Patent ductus arteriosus, Pulmonary artery stenosis, Transposition of the gr... ORPHA:2255
Keutel Syndrome
Emphysema, Pulmonary artery hypoplasia, Peripheral pulmonary artery stenosis, Midface retrusion, ... OMIM:245150
Seckel Syndrome 9
Dolichocephaly, Pulmonary artery hypoplasia, Microcephaly, Recurrent respiratory infections, Scap... OMIM:616777
Congenital Total Pulmonary Venous Return Anomaly
Patent ductus arteriosus, Supracardiac total anomalous pulmonary venous connection, Mixed total a... ORPHA:99125
Heterotaxy, Visceral, 7, Autosomal
Total anomalous pulmonary venous return, Pulmonary artery hypoplasia, Interrupted inferior vena c... OMIM:616749
Neu-Laxova Syndrome 1
Short umbilical cord, Hydranencephaly, Decreased fetal movement, Polyhydramnios, Spina bifida, Sm... OMIM:256520
Hardikar Syndrome
Patent ductus arteriosus, Lacrimal duct stenosis, Partial anomalous pulmonary venous return, Coar... OMIM:301068
Behavioral Variant Of Frontotemporal Dementia
Astrocytosis ORPHA:275864
Double Outlet Right Ventricle
Tetralogy of Fallot, Coarctation of aorta, Double outlet right ventricle, Pulmonary artery atresi... ORPHA:3426
Mowat-Wilson Syndrome
Patent ductus arteriosus, Ptosis, Broad eyebrow, Downslanted palpebral fissures, Pulmonary artery... OMIM:235730
Alagille Syndrome 1
Upslanted palpebral fissure, Tetralogy of Fallot, Peripheral pulmonary artery stenosis, Coarctati... OMIM:118450
Syndromic Diarrhea
Peripheral pulmonary artery stenosis, Tetralogy of Fallot, Patent ductus arteriosus ORPHA:84064
Familial Infantile Bilateral Striatal Necrosis
Basal ganglia gliosis, Astrocytosis ORPHA:225154
Mosaic Trisomy 1
Small anterior fontanelle, Coarctation of aorta, Downslanted palpebral fissures, Frontal bossing,... ORPHA:1692
Right Atrial Isomerism
Tetralogy of Fallot, Total anomalous pulmonary venous return, Pulmonary artery atresia, Transposi... OMIM:208530
Restrictive Dermopathy
Short umbilical cord, Decreased fetal movement, Premature delivery because of cervical insufficie... ORPHA:1662
Cutis Laxa, Autosomal Recessive, Type Ib
Emphysema, Generalized arterial tortuosity, Pulmonary artery aneurysm, Pulmonary artery dilatatio... OMIM:614437
Microphthalmia, Syndromic 9
Agenesis of pulmonary vessels, Tetralogy of Fallot, Patent ductus arteriosus, Bilateral lung agen... OMIM:601186
Robinow Syndrome, Autosomal Dominant 3
Upslanted palpebral fissure, Patent ductus arteriosus, Long eyelashes, Midface retrusion, Frontal... OMIM:616894
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion
Polyhydramnios, Large placenta, Umbilical hernia ORPHA:254528
Fibromuscular Dysplasia, Multifocal
Carotid artery tortuosity, Dolichocephaly, Pulmonary artery aneurysm, Tortuous cerebral arteries,... OMIM:619329
Williams Syndrome
Aortic arch aneurysm, Overriding aorta, Tetralogy of Fallot, Patent ductus arteriosus, Retinal ar... ORPHA:904
Heterotaxy, Visceral, 12, Autosomal
Patent ductus arteriosus, Single coronary artery origin, Dextrotransposition of the great arterie... OMIM:619702
Duodenal Atresia
Abnormality of the pulmonary artery ORPHA:1203
Greenberg Dysplasia
Toxemia of pregnancy, Hydrops fetalis, Nonimmune hydrops fetalis, Large placenta, Polyhydramnios,... OMIM:215140
Stuve-Wiedemann Syndrome 1
Short palpebral fissure, Midface retrusion, Frontal bossing, Pulmonary arterial medial hypertroph... OMIM:601559
Kagami-Ogata Syndrome
Large placenta, Polyhydramnios, Premature birth ORPHA:254519
Williams-Beuren Syndrome
Coronary artery stenosis, Retinal arteriolar tortuosity, Peripheral pulmonary artery stenosis, Mi... OMIM:194050
Congenital Tracheomalacia
Emphysema, Tetralogy of Fallot, Recurrent upper respiratory tract infections, Pneumonia, Patent d... ORPHA:95430
Mosaic Trisomy 16
Large placenta, Single umbilical artery, Preeclampsia, Maternal diabetes, Premature birth ORPHA:1708
Scleromyxedema
Abnormal pulmonary artery morphology, Abnormal lung morphology, Abnormal coronary artery morphology ORPHA:167635
Adams-Oliver Syndrome
Pulmonary artery atresia, Tetralogy of Fallot, Arteriovenous malformation, Calvarial skull defect ORPHA:974
Trichohepatoenteric Syndrome 1
Large placenta, Polyhydramnios, Abnormalities of placenta or umbilical cord OMIM:222470
Hyperlysinemia
Recurrent pneumonia, Craniosynostosis, Pulmonary artery hypoplasia, Thin eyebrow, Microcephaly ORPHA:2203
Kallmann Syndrome-Heart Disease Syndrome
Right aortic arch, Anomalous origin of left coronary artery from the pulmonary artery, Double out... ORPHA:2326
Inherited Creutzfeldt-Jakob Disease
Astrocytosis ORPHA:282166
Osteogenesis Imperfecta, Type Vii
Decreased calvarial ossification, Absent pulmonary artery, Wormian bones, Delayed cranial suture ... OMIM:610682
Hughes-Stovin Syndrome
Pulmonary artery aneurysm, Vasculitis, Arterial stenosis ORPHA:228116
Meckel Syndrome, Type 1
Occipital encephalocele, Anencephaly, Large placenta, Single umbilical artery, Breech presentatio... OMIM:249000
Restrictive Dermopathy 1
Short umbilical cord, Premature rupture of membranes, Decreased fetal movement, Polyhydramnios, P... OMIM:275210
Non-Specific Syndromic Intellectual Disability
Aortic root aneurysm, Pulmonary artery dilatation, Highly arched eyebrow, Ptosis, Downslanted pal... ORPHA:528084
Pagod Syndrome
Pulmonary artery hypoplasia, Microcephaly, Abnormality of the pulmonary artery, Abnormal aortic m... ORPHA:991
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly
Tetralogy of Fallot, Absent pulmonary artery, Patent ductus arteriosus, Coarctation of aorta OMIM:600460
Marfan Syndrome
Emphysema, Dolichocephaly, Descending aortic dissection, Pulmonary artery dilatation, Arterial di... ORPHA:558
Congenital Tracheal Stenosis
Preductal coarctation of the aorta, Patent ductus arteriosus, Ascending aorta hypoplasia, Pulmona... ORPHA:141127
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Gliosis, Astrocytosis OMIM:203700
Heterotaxy, Visceral, 5, Autosomal
Bilateral trilobed lungs, Total anomalous pulmonary venous return, Patent ductus arteriosus, Dext... OMIM:270100
Loeys-Dietz Syndrome 2
Aortic arch aneurysm, Craniosynostosis, Abdominal aortic aneurysm, Patent ductus arteriosus, Aort... OMIM:610168
Cardiomyopathy, Dilated, 1S
Coarctation of aorta, Pulmonary artery hypoplasia OMIM:613426
Beckwith-Wiedemann Syndrome
Subchorionic septal cyst, Large placenta, Polyhydramnios, Premature birth, Umbilical hernia ORPHA:116
Loeys-Dietz Syndrome 1
Craniosynostosis, Patent ductus arteriosus, Aortic root aneurysm, Pulmonary artery aneurysm, Desc... OMIM:609192
Cockayne Syndrome Type 3
Progressive microcephaly, Aortic root aneurysm, Astrocytosis, Vascular calcification, Premature c... ORPHA:90324
Marfan Syndrome
Emphysema, Dolichocephaly, Aortic root aneurysm, Aortic dissection, Pulmonary artery dilatation, ... OMIM:154700
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Microcephaly, Astrocytosis ORPHA:309854
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Recurrent lower respiratory tract infections, Astrocytosis ORPHA:258
Viss Syndrome
Carotid artery tortuosity, Double outlet right ventricle, Ptosis, Microcephaly, Emphysema, Patent... OMIM:619472
Charge Syndrome
Overriding aorta, Tetralogy of Fallot, Patent ductus arteriosus, Double outlet right ventricle, P... OMIM:214800
Atrial Septal Defect, Ostium Primum Type
Recurrent respiratory infections, Pulmonary artery dilatation ORPHA:99106
Vascular Ehlers-Danlos Syndrome
Arteriovenous fistula, Hypoplastic lacrimal duct, Peripheral arteriovenous fistula, Aplasia/Hypop... ORPHA:286
Alzahrani-Kuwahara Syndrome
Microcephaly, Pulmonary artery sling, Frontal bossing, Persistent left superior vena cava OMIM:619268
Biliary, Renal, Neurologic, And Skeletal Syndrome
Upslanted palpebral fissure, Patent ductus arteriosus, Pulmonary artery dilatation, Recurrent res... OMIM:619534
Congenitally Corrected Transposition Of The Great Arteries
Bilateral superior vena cava with bridging vein, Double aortic arch, Pulmonary artery atresia, Pa... ORPHA:216694
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Tetralogy of Fallot, Right unicoronal synostosis, Patent ductus arteriosus, Coarctation of aorta,... ORPHA:261552
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Tetralogy of Fallot, Right unicoronal synostosis, Coarctation of aorta, Broad eyebrow, Ptosis, Pu... ORPHA:261537
Mowat-Wilson Syndrome
Tetralogy of Fallot, Patent ductus arteriosus, Coarctation of aorta, Broad eyebrow, Microcephaly,... ORPHA:2152
Melorheostosis, Isolated
OMIM:155950
Cardiofaciocutaneous Syndrome 3
OMIM:615279

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 Map2k1

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 Map2k1.

No publications found that use IMPC mice or data for Map2k1.

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MGI Allele Allele Type Produced
Map2k1em1(IMPC)H Exon Deletion Mice

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