banner
Genes Phenotypes Help, News, Blog

Gene: Map2k1 MGI:1346866

Log in to follow

Gene Summary

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

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 Map2k1em1(IMPC)H HOM   Early adult 0.00

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
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
Frontal bossing, Epicanthus, Abnormal eyelash morphology, Sparse or absent eyelashes, Biparietal ... 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
Pulmonary artery stenosis, Peripheral arterial stenosis OMIM:185500
Macrocephaly, Benign Familial
Frontal bossing, Macrocephaly, Biparietal narrowing, Dolichocephaly OMIM:153470
Pulmonary Atresia With Ventricular Septal Defect
Pulmonary artery atresia OMIM:178370
Craniosynostosis 1
Frontal bossing, Turricephaly, Sagittal craniosynostosis, Craniosynostosis, Oxycephaly, Scaphocep... OMIM:123100
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 Deletion 10Q
Epicanthus, Synophrys, Upslanted palpebral fissure, Biparietal narrowing, Ptosis 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
Absent lacrimal punctum, Telecanthus, Highly arched eyebrow, Absent eyelashes, Biparietal narrowi... ORPHA:228396
Atrioventricular Septal Defect, Susceptibility To, 2
Pulmonary artery atresia, Right aortic arch with mirror image branching OMIM:606217
Placental Insufficiency
Abnormal placenta morphology, Abnormal umbilical cord blood vessel morphology, Small placenta ORPHA:439167
Toluene Embryopathy
Epicanthus, Biparietal narrowing, Short palpebral fissure, Microcephaly ORPHA:1920
Tetraploidy
Aplasia/Hypoplasia of the lungs, Biparietal narrowing, Microcephaly ORPHA:3305
1Q44 Microdeletion Syndrome
Frontal bossing, Epicanthus, Telecanthus, Microcephaly, Synophrys, Upslanted palpebral fissure, B... ORPHA:238769
8P23.1 Microdeletion Syndrome
Epicanthus, Microcephaly, Pulmonary artery stenosis, Patent ductus arteriosus, Upslanted palpebra... ORPHA:251071
Factor V Excess With Spontaneous Thrombosis
Peripheral arterial stenosis OMIM:134400
Macrocephaly/Autism Syndrome
Frontal bossing, Epicanthus, Dilation of Virchow-Robin spaces, Biparietal narrowing, Postnatal ma... OMIM:605309
Isotretinoin Syndrome
Biparietal narrowing ORPHA:2305
Fetal Alcohol Syndrome
Epicanthus, Telecanthus, Microcephaly, Biparietal narrowing, Ptosis ORPHA:1915
Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome
Abnormal eyelash morphology, Biparietal narrowing, Microcephaly ORPHA:2518
Lig4 Syndrome
Epicanthus, Telecanthus, Microcephaly, Brachycephaly, Upslanted palpebral fissure, Biparietal nar... ORPHA:99812
Camptodactyly-Joint Contractures-Facial Skeletal Defects Syndrome
Abnormal calvaria morphology, Biparietal narrowing, Ptosis ORPHA:1323
Intellectual Disability, Buenos-Aires Type
Microcephaly, Abnormal calvaria morphology, Biparietal narrowing, Blepharophimosis, Downslanted p... ORPHA:3079
Hyperphosphatasia With Impaired Intellectual Development Syndrome 2
Microcephaly, Plagiocephaly, Upslanted palpebral fissure, Long palpebral fissure, Left unicoronal... OMIM:614749
Congenital Heart Defects, Multiple Types, 7
Aortopulmonary collateral arteries, Right aortic arch, Pulmonary artery atresia, Tetralogy of Fal... OMIM:618780
Brachymorphism-Onychodysplasia-Dysphalangism Syndrome
Frontal bossing, Epicanthus, Microcephaly, Brachycephaly, Biparietal narrowing, Thick eyebrow ORPHA:1292
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome
Epicanthus, Downslanted palpebral fissures, Biparietal narrowing ORPHA:1770
Peho Syndrome
Recurrent respiratory infections, Epicanthus, Palpebral edema, Microcephaly, Biparietal narrowing... ORPHA:2836
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome
Blepharophimosis, Biparietal narrowing, Ptosis ORPHA:2031
Keutel Syndrome
Recurrent respiratory infections, Pulmonary artery stenosis, Midface retrusion, Recurrent sinusitis ORPHA:85202
3Q29 Microduplication Syndrome
Craniosynostosis, Microcephaly, Biparietal narrowing, Macrocephaly, Downslanted palpebral fissures ORPHA:251038
X-Linked Intellectual Disability, Cabezas Type
Epicanthus, Microcephaly, Synophrys, Biparietal narrowing, Macrocephaly, Blepharophimosis, Downsl... ORPHA:85293
Tricuspid Atresia
Pulmonary artery atresia, Persistent left superior vena cava, Transposition of the great arteries... ORPHA:1209
Mucolipidosis Type Iv
Biparietal narrowing, Microcephaly ORPHA:578
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome
Upslanted palpebral fissure, Turricephaly, Biparietal narrowing, Microcephaly ORPHA:1005
Truncus Arteriosus
Single coronary artery origin, Abnormal coronary artery morphology, Anomalous origin of one pulmo... ORPHA:3384
15Q14 Microdeletion Syndrome
Biparietal narrowing, Microcephaly ORPHA:261190
Linear Nevus Sebaceus Syndrome
Frontal bossing, Telecanthus, Prominent occiput, Plagiocephaly, Biparietal narrowing ORPHA:2612
Cranioectodermal Dysplasia 3
Frontal bossing, Telecanthus, Sagittal craniosynostosis, Scaphocephaly, Macrocephaly, Dolichoceph... OMIM:614099
Ogden Syndrome
Frontal bossing, Pulmonary artery stenosis, Downslanted palpebral fissures, Aplasia/Hypoplasia of... ORPHA:276432
X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome
Pulmonary artery stenosis, Microcephaly ORPHA:435938
Joubert Syndrome With Oculorenal Defect
Biparietal narrowing, Highly arched eyebrow, Ptosis ORPHA:2318
Joubert Syndrome With Renal Defect
Biparietal narrowing, Highly arched eyebrow, Ptosis ORPHA:220497
Congenital Myopathy 12
Pulmonary artery stenosis, Scaphocephaly, Dolichocephaly OMIM:612540
Joubert Syndrome
Biparietal narrowing, Highly arched eyebrow, Ptosis ORPHA:475
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome
Upslanted palpebral fissure, Pulmonary artery stenosis ORPHA:75389
Aortic Aneurysm, Familial Thoracic 6
Thoracic aortic aneurysm, Descending aortic dissection, Premature coronary artery atherosclerosis... OMIM:611788
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction
Pulmonary artery atresia, Left superior vena cava draining directly to the left atrium OMIM:613759
Cardiofaciocutaneous Syndrome
Frontal bossing, Epicanthus, Abnormal eyelash morphology, Sparse or absent eyelashes, Biparietal ... ORPHA:1340
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2
Relative macrocephaly, Frontal bossing, Epicanthus, Lacrimal duct stenosis, Craniosynostosis, Hig... OMIM:617506
Joubert Syndrome With Ocular Defect
Biparietal narrowing, Highly arched eyebrow, Ptosis ORPHA:220493
Congenital Heart Defects, Multiple Types, 6
Hypoplastic pulmonary veins, Coarctation of aorta, Right aortic arch, Total anomalous pulmonary v... OMIM:613854
Kleefstra Syndrome
Recurrent respiratory infections, Highly arched eyebrow, Microcephaly, Pulmonary artery stenosis,... ORPHA:261494
Arterial Tortuosity Syndrome
Craniosynostosis, Pulmonary artery stenosis, Arterial stenosis, Macrocephaly, Aortic root aneurys... ORPHA:3342
Monosomy 18Q
Epicanthus, Microcephaly, Left aortic arch with right descending aorta and right ductus arteriosu... ORPHA:1600
16Q24.3 Microdeletion Syndrome
Upslanted palpebral fissure, Frontal bossing, Biparietal narrowing, Highly arched eyebrow ORPHA:261250
Immunodeficiency 49
Upslanted palpebral fissure, Pulmonary artery stenosis, Short palpebral fissure OMIM:617237
Fadd-Related Immunodeficiency
Pulmonary artery atresia ORPHA:306550
Focal Cortical Dysplasia, Type Ii
Astrocytosis OMIM:607341
Hadziselimovic Syndrome
Epicanthus, Microcephaly, Pulmonary artery atresia, Tetralogy of Fallot, Ptosis OMIM:612946
Right Pulmonary Artery, Anomalous Origin Of, Familial
Patent ductus arteriosus, Anomalous origin of right pulmonary artery from ascending aorta, Coarct... OMIM:610338
Intellectual Developmental Disorder, X-Linked, Syndromic, 35
Epicanthus, Dilation of Virchow-Robin spaces, Microcephaly, Pulmonary artery stenosis, Dolichocep... OMIM:300998
Arterial Tortuosity Syndrome
Carotid artery dissection, Pulmonary artery stenosis, Aortic root aneurysm, Ischemic stroke, Gene... OMIM:208050
Mosaic Trisomy 9
Microcephaly, Patent ductus arteriosus, Abnormal lung lobation, Prominent occiput, Upslanted palp... ORPHA:99776
Lathosterolosis
Epicanthus, Microcephaly, Biparietal narrowing, Downslanted palpebral fissures, Ptosis ORPHA:46059
Aortic Aneurysm, Familial Thoracic 4
Cystic medial necrosis, Anterior cerebral artery stenosis, Posterior cerebral artery stenosis, Th... OMIM:132900
Atrial Septal Defect 8
Anomalous pulmonary venous return OMIM:614433
Progressive Multifocal Leukoencephalopathy
Abnormal astrocyte morphology, Abnormal oligodendroglia morphology ORPHA:217260
Alagille Syndrome 2
Tetralogy of Fallot, Peripheral pulmonary artery stenosis OMIM:610205
Joubert Syndrome With Hepatic Defect
Ptosis, Biparietal narrowing, Highly arched eyebrow, Macrocephaly ORPHA:1454
Silver-Russell Syndrome Due To A Point Mutation
Small placenta, Oligohydramnios ORPHA:397590
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Small placenta ORPHA:73272
Familial Aortic Dissection
Descending thoracic aorta aneurysm, Patent ductus arteriosus, Mucoid extracellular matrix accumul... ORPHA:229
Distal 22Q11.2 Microduplication Syndrome
Frontal bossing, Epicanthus, Palpebral edema, Microcephaly, Patent ductus arteriosus, Upslanted p... ORPHA:261337
Oculofaciocardiodental Syndrome
Highly arched eyebrow, Patent ductus arteriosus, Peripheral pulmonary artery stenosis, Ptosis ORPHA:2712
Orofaciodigital Syndrome Type 6
Frontal bossing, Epicanthus, Biparietal narrowing, Highly arched eyebrow ORPHA:2754
Alagille Syndrome
Frontal bossing, Downslanted palpebral fissures, Brachycephaly, Peripheral pulmonary artery stenosis ORPHA:52
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs
Bilateral lung agenesis, Pulmonary artery stenosis, Congenital pulmonary airway malformation, Pul... OMIM:611812
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome
Frontal bossing, Telecanthus, Ptosis, Epicanthus, Highly arched eyebrow, Pulmonary artery stenosi... OMIM:280000
14Q24.1Q24.3 Microdeletion Syndrome
Synophrys, Pulmonary artery atresia, Truncus arteriosus, Downslanted palpebral fissures, Midface ... ORPHA:401935
X-Linked Intellectual Disability, Nascimento Type
Recurrent respiratory infections, Patent ductus arteriosus, Synophrys, Upslanted palpebral fissur... ORPHA:163956
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Recurrent respiratory infections, Biparietal narrowing ORPHA:935
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Recurrent respiratory infections, Patent ductus arteriosus, Arteria lusoria, Abnormal aortic arch... ORPHA:99050
Autosomal Recessive Cutis Laxa Type 1
Peripheral pulmonary artery stenosis, Microcephaly, Dermatochalasis, Dilatation of the ventricula... ORPHA:90349
Heterotaxy, Visceral, 4, Autosomal
Dextrotransposition of the great arteries, Right aortic arch, Interrupted inferior vena cava with... OMIM:613751
Pelizaeus-Merzbacher Disease
Reduction of oligodendroglia, Microcephaly OMIM:312080
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation
Large placenta, Umbilical hernia, Polyhydramnios ORPHA:254534
Werner Syndrome
Neoplasm of the lung, Pulmonary artery stenosis, Abnormal cerebral vascular morphology, Atheroscl... ORPHA:902
Van Esch-O'Driscoll Syndrome
Microcephaly, Pulmonary artery stenosis, Upslanted palpebral fissure, Shallow orbits, Short palpe... OMIM:301030
Ciliary Dyskinesia, Primary, 20
Recurrent respiratory infections, Atelectasis, Pulmonary artery stenosis, Recurrent pneumonia, Br... OMIM:615067
Encephalocraniocutaneous Lipomatosis
Limbal dermoid, Eyelid coloboma, Peripheral pulmonary artery stenosis OMIM:613001
Contractures-Developmental Delay-Pierre Robin Syndrome
Downslanted palpebral fissures, Peripheral pulmonary artery stenosis ORPHA:436003
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome
Macrocephaly at birth, Epicanthus, Patent ductus arteriosus, Synophrys, Prominent occiput, Upslan... ORPHA:280633
Omodysplasia 1
Frontal bossing, Epicanthus, Pulmonary artery stenosis, Popliteal pterygium, Narrow palpebral fis... OMIM:258315
Smith-Lemli-Opitz Syndrome
Epicanthus, Microcephaly, Abnormal eyelash morphology, Patent ductus arteriosus, Abnormal lung lo... ORPHA:818
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Pulmonary artery stenosis, Patent ductus arteriosus, Partial anomalous pulmonary venous return, A... OMIM:265380
Down Syndrome
Epicanthus, Pulmonary artery stenosis, Patent ductus arteriosus, Partial anomalous pulmonary veno... OMIM:190685
Cardiac Diverticulum
Abnormal coronary artery origin, Patent ductus arteriosus, Pulmonary artery stenosis, Partial ano... ORPHA:1686
Primary Pulmonary Hypoplasia
Recurrent respiratory infections, Epicanthus, Microcephaly, Pneumothorax, Abnormal pulmonary arte... ORPHA:2257
Pulmonary Hypertension, Primary, 1
Pulmonary aterial intimal fibrosis, Arterial intimal fibrosis, Pulmonary arterial medial hypertro... OMIM:178600
Relapsing Polychondritis
Atelectasis, Large vessel vasculitis, Conjunctivitis, Biparietal narrowing, Vascular dilatation ORPHA:728
Recombinant 8 Syndrome
Pulmonary artery stenosis, Patent ductus arteriosus, Tetralogy of Fallot ORPHA:96167
Scimitar Syndrome
Recurrent respiratory infections, Anomalous origin of left coronary artery from the pulmonary art... ORPHA:185
Ogden Syndrome
Epicanthus, Microcephaly, Sparse eyebrow, Bilateral ptosis, Pulmonary artery stenosis, Patent duc... OMIM:300855
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Recurrent respiratory infections, Highly arched eyebrow, Patent ductus arteriosus, Synophrys, Pul... OMIM:618316
Brachytelephalangic Chondrodysplasia Punctata
Pulmonary artery stenosis, Recurrent respiratory infections, Patent ductus arteriosus ORPHA:79345
Syndactyly-Telecanthus-Anogenital And Renal Malformations Syndrome
Pulmonary artery stenosis, Telecanthus, Eyelid coloboma ORPHA:140952
Cutis Laxa, Autosomal Recessive, Type Ic
Peripheral pulmonary artery stenosis, Atelectasis, Recurrent pneumonia, Pulmonary hypoplasia, Dol... OMIM:613177
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects
Pulmonary artery atresia, Tetralogy of Fallot OMIM:108900
Sporadic Creutzfeldt-Jakob Disease
Recurrent aspiration pneumonia, Gliosis, Astrocytosis ORPHA:204
Double Outlet Left Ventricle
Pulmonary artery stenosis, Patent ductus arteriosus, Abnormal coronary artery course ORPHA:3427
Multisystemic Smooth Muscle Dysfunction Syndrome
Aortic arch aneurysm, Thoracic aortic aneurysm, Brachiocephalic artery aneurysm, Patent ductus ar... OMIM:613834
Noonan Syndrome
Pulmonary artery stenosis, Downslanted palpebral fissures, Midface retrusion, Ptosis ORPHA:648
Phaver Syndrome
Epicanthus, Hypoplastic aortic arch, Coarctation of aorta, Pulmonary artery atresia, Pterygium, D... ORPHA:2876
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities
Recurrent respiratory infections, Peripheral pulmonary artery stenosis, Macrocephaly OMIM:619575
Trisomy 8P
Microcephaly, Recurrent upper respiratory tract infections, Abnormal lung lobation, Upslanted pal... ORPHA:264450
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations
Craniosynostosis, Telecanthus, Peripheral pulmonary artery stenosis OMIM:300707
X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome
Epicanthus, Microcephaly, Dilatation of the ventricular cavity, Pulmonary artery stenosis, Narrow... ORPHA:459070
Fetal Akinesia Deformation Sequence 1
Decreased fetal movement, Premature birth, Nonimmune hydrops fetalis, Polyhydramnios, Fetal akine... OMIM:208150
Autosomal Dominant Cutis Laxa
Ptosis, Microcephaly, Dilatation of the ventricular cavity, Bronchiectasis, Coarctation of aorta,... ORPHA:90348
C Syndrome
Epicanthus, Microcephaly, Upslanted palpebral fissure, Biparietal narrowing, Trigonocephaly ORPHA:1308
Heart Defects, Congenital, And Other Congenital Anomalies
Microcephaly, Pulmonary artery stenosis, Patent ductus arteriosus, Transposition of the great art... OMIM:600001
Congenital Heart Defects, Multiple Types, 9
Aortopulmonary collateral arteries, Arteria lusoria, Double outlet right ventricle, Transposition... OMIM:620294
Cutis Laxa, Autosomal Dominant 1
Emphysema, Bronchiectasis, Peripheral pulmonary artery stenosis OMIM:123700
Autosomal Recessive Malignant Osteopetrosis
Recurrent respiratory infections, Pulmonary artery stenosis, Craniosynostosis, Macrocephaly ORPHA:667
Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy
Astrocytosis, Macrocephaly OMIM:611087
Aniridia-Cerebellar Ataxia-Intellectual Disability Syndrome
Abnormality of the pulmonary artery ORPHA:1065
Heterotaxy, Visceral, 8, Autosomal
Aortopulmonary collateral arteries, Right aortic arch, Pulmonary artery atresia, Double outlet ri... OMIM:617205
Alagille Syndrome 1
Frontal bossing, Coarctation of aorta, Upslanted palpebral fissure, Stroke, Renal artery stenosis... OMIM:118450
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature
Varicose veins, Patent ductus arteriosus, Distichiasis, Peripheral arterial stenosis OMIM:126320
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Telecanthus, Craniosynostosis, Microcephaly, Macrocephaly, Pulmonary artery atresia, Double outle... OMIM:301056
Velocardiofacial Syndrome
Microcephaly, Blepharophimosis, Narrow palpebral fissure, Interrupted aortic arch, Unilateral pri... OMIM:192430
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Pulmonary artery stenosis, Patent ductus arteriosus, Mild microcephaly, Transposition of the grea... ORPHA:2255
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Frontal bossing, Epicanthus, Microcephaly, Pulmonary artery stenosis, Abnormal aortic arch morpho... ORPHA:96334
Adams-Oliver Syndrome 1
Pulmonary artery stenosis, Tetralogy of Fallot, Calvarial skull defect, Microcephaly OMIM:100300
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities
Medial flaring of the eyebrow, Patent ductus arteriosus, Synophrys, Narrow palpebral fissure, Sec... OMIM:620113
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7
Astrocytosis OMIM:600795
Aminopterin/Methotrexate Embryofetopathy
Pulmonary artery atresia, Epicanthus, Tetralogy of Fallot, Microcephaly ORPHA:1908
Heterotaxy, Visceral, 7, Autosomal
Right aortic arch, Pulmonary artery hypoplasia, Interrupted inferior vena cava with azygous conti... OMIM:616749
Seckel Syndrome 9
Recurrent respiratory infections, Microcephaly, Scaphocephaly, Pulmonary artery hypoplasia, Dolic... OMIM:616777
Neu-Laxova Syndrome 1
Decreased fetal movement, Hydranencephaly, Spina bifida, Polyhydramnios, Fetal akinesia sequence,... OMIM:256520
Congenital Total Pulmonary Venous Return Anomaly
Recurrent respiratory infections, Pulmonary artery stenosis, Patent ductus arteriosus, Hypoplasti... ORPHA:99125
Ritscher-Schinzel Syndrome 2
Patent ductus arteriosus, Relative macrocephaly, Pulmonary artery hypoplasia, Upslanted palpebral... OMIM:300963
Hardikar Syndrome
Lacrimal duct stenosis, Pulmonary artery stenosis, Patent ductus arteriosus, Partial anomalous pu... OMIM:301068
Mowat-Wilson Syndrome
Pulmonary artery sling, Microcephaly, Pulmonary artery stenosis, Patent ductus arteriosus, Downsl... OMIM:235730
Restrictive Dermopathy
Decreased fetal movement, Premature birth, Premature delivery because of cervical insufficiency o... ORPHA:1662
Familial Infantile Bilateral Striatal Necrosis
Basal ganglia gliosis, Astrocytosis ORPHA:225154
Double Outlet Right Ventricle
Double outlet right ventricle, Coarctation of aorta, Narrow palpebral fissure, Pulmonary artery a... ORPHA:3426
Keutel Syndrome
Recurrent bronchitis, Pulmonary artery hypoplasia, Emphysema, Midface retrusion, Peripheral pulmo... OMIM:245150
Syndromic Diarrhea
Patent ductus arteriosus, Tetralogy of Fallot, Peripheral pulmonary artery stenosis ORPHA:84064
Right Atrial Isomerism
Aortopulmonary collateral arteries, Abnormal lung lobation, Total anomalous pulmonary venous retu... OMIM:208530
Behavioral Variant Of Frontotemporal Dementia
Astrocytosis ORPHA:275864
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion
Umbilical hernia, Large placenta, Polyhydramnios ORPHA:254528
Robinow Syndrome, Autosomal Dominant 3
Frontal bossing, Epicanthus, Telecanthus, Patent ductus arteriosus, Upslanted palpebral fissure, ... OMIM:616894
Microphthalmia, Syndromic 9
Blepharophimosis, Agenesis of pulmonary vessels, Patent ductus arteriosus, Alveolar capillary dys... OMIM:601186
Cutis Laxa, Autosomal Recessive, Type Ib
Arterial tortuosity, Microcephaly, Emphysema, Narrow palpebral fissure, Aortic root aneurysm, Gen... OMIM:614437
Diaphragmatic Hernia 4, With Cardiovascular Defects
Aortopulmonary collateral arteries, Aortopulmonary window, Pulmonary artery hypoplasia, Aortic ro... OMIM:620025
Mosaic Trisomy 1
Frontal bossing, Coarctation of aorta, Congenital bilateral ptosis, Pulmonary hypoplasia, Macroce... ORPHA:1692
Williams Syndrome
Aortic arch aneurysm, Recurrent respiratory infections, Epicanthus, Overriding aorta, Abnormal ce... ORPHA:904
Fibromuscular Dysplasia, Multifocal
Tortuous cerebral arteries, Dolichocephaly, Vertebral artery tortuosity, Celiac artery dissection... OMIM:619329
Scleromyxedema
Abnormal coronary artery morphology, Transient ischemic attack, Abnormal lung morphology, Stroke,... ORPHA:167635
Heterotaxy, Visceral, 12, Autosomal
Patent ductus arteriosus, Partial anomalous pulmonary venous return, Hypoplastic aortic arch, Dex... OMIM:619702
Williams-Beuren Syndrome
Medial flaring of the eyebrow, Epicanthus, Retinal arteriolar tortuosity, Stroke, Renal artery st... OMIM:194050
Inherited Creutzfeldt-Jakob Disease
Astrocytosis, Stroke-like episode ORPHA:282166
Duodenal Atresia
Abnormality of the pulmonary artery ORPHA:1203
Meester-Loeys Syndrome
Relative macrocephaly, Frontal bossing, Dolichocephaly, Ascending tubular aorta aneurysm, Aortic ... OMIM:300989
Greenberg Dysplasia
Nonimmune hydrops fetalis, Polyhydramnios, Echogenic fetal bowel, Large placenta, Increased nucha... OMIM:215140
Kagami-Ogata Syndrome
Large placenta, Premature birth, Polyhydramnios ORPHA:254519
Cardiac, Facial, And Digital Anomalies With Developmental Delay
Epicanthus, Patent ductus arteriosus, Coarctation of aorta, Pulmonary artery atresia, Double outl... OMIM:618164
Congenital Tracheomalacia
Pneumonia, Patent ductus arteriosus, Partial anomalous pulmonary venous return, Pneumothorax, Bro... ORPHA:95430
Trichohepatoenteric Syndrome 1
Large placenta, Abnormalities of placenta or umbilical cord, Polyhydramnios OMIM:222470
Adams-Oliver Syndrome
Pulmonary artery atresia, Calvarial skull defect, Tetralogy of Fallot, Arteriovenous malformation ORPHA:974
Hyperlysinemia
Craniosynostosis, Microcephaly, Recurrent pneumonia, Pulmonary artery hypoplasia, Thin eyebrow ORPHA:2203
Kallmann Syndrome-Heart Disease Syndrome
Right aortic arch, Pulmonary artery hypoplasia, Double outlet right ventricle, Anomalous origin o... ORPHA:2326
Mosaic Trisomy 16
Large placenta, Single umbilical artery, Premature birth ORPHA:1708
Progressive Non-Fluent Aphasia
Stroke, Astrocytosis ORPHA:100070
Coffin-Siris Syndrome 4
Microcephaly, Patent ductus arteriosus, Long eyelashes, Pulmonary artery atresia, Thick eyebrow, ... OMIM:614609
Hughes-Stovin Syndrome
Pulmonary artery aneurysm, Vasculitis, Arterial stenosis ORPHA:228116
Restrictive Dermopathy 1
Spontaneous chorioamniotic separation, Decreased fetal movement, Premature birth, Polyhydramnios,... OMIM:275210
Pagod Syndrome
Microcephaly, Pulmonary artery hypoplasia, Abnormal aortic morphology, Pulmonary hypoplasia, Abno... ORPHA:991
Heterotaxy, Visceral, 5, Autosomal
Bilateral trilobed lung, Patent ductus arteriosus, Partial anomalous pulmonary venous return, Dex... OMIM:270100
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly
Absent pulmonary artery, Patent ductus arteriosus, Tetralogy of Fallot, Coarctation of aorta OMIM:600460
Cardiac Valvular Dysplasia 2
Ascending tubular aorta aneurysm, Pulmonary artery dilatation OMIM:620067
Stuve-Wiedemann Syndrome 1
Frontal bossing, Pulmonary arterial medial hypertrophy, Pulmonary hypoplasia, Midface retrusion, ... OMIM:601559
Meckel Syndrome, Type 1
Occipital encephalocele, Breech presentation, Large placenta, Anencephaly, Single umbilical arter... OMIM:249000
Marfan Syndrome
Spontaneous pneumothorax, Descending aortic dissection, Emphysema, Dilatation of an abdominal art... ORPHA:558
Congenital Tracheal Stenosis
Ascending aorta hypoplasia, Abnormal lung morphology, Patent ductus arteriosus, Abnormal lung lob... ORPHA:141127
Cardiomyopathy, Dilated, 1S
Pulmonary artery hypoplasia, Coarctation of aorta OMIM:613426
Loeys-Dietz Syndrome 2
Aortic arch aneurysm, Spontaneous pneumothorax, Craniosynostosis, Arterial tortuosity, Descending... OMIM:610168
Beckwith-Wiedemann Syndrome
Premature birth, Polyhydramnios, Large placenta, Subchorionic septal cyst, Umbilical hernia ORPHA:116
Cockayne Syndrome Type 3
Subdural hemorrhage, Astrocytosis, Aortic root aneurysm, Progressive microcephaly, Stroke, Vascul... ORPHA:90324
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Atelectasis, Recurrent lower respiratory tract infections, Astrocytosis ORPHA:258
Loeys-Dietz Syndrome 1
Craniosynostosis, Arterial tortuosity, Descending thoracic aorta aneurysm, Patent ductus arterios... OMIM:609192
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Astrocytosis, Microcephaly ORPHA:309854
Marfan Syndrome
Dolichocephaly, Emphysema, Pneumothorax, Ascending tubular aorta aneurysm, Aortic root aneurysm, ... OMIM:154700
Viss Syndrome
Tortuous cerebral arteries, Epidural hemorrhage, Brachycephaly, Emphysema, Arterial tortuosity, P... OMIM:619472
Osteogenesis Imperfecta, Type Vii
Decreased calvarial ossification, Absent pulmonary artery, Hypoplastic pulmonary veins OMIM:610682
Supranuclear Palsy, Progressive, 1
Gliosis, Astrocytosis OMIM:601104
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Gliosis, Astrocytosis OMIM:203700
Charge Syndrome
Overriding aorta, Microcephaly, Patent ductus arteriosus, Right aortic arch, Pulmonary artery atr... OMIM:214800
Atrial Septal Defect, Ostium Primum Type
Recurrent respiratory infections, Pulmonary artery dilatation ORPHA:99106
Cardiac Valvular Dysplasia 1
Pulmonary artery atresia, Arteria lusoria, Left aortic arch with cervical origin of the right sub... OMIM:212093
Vascular Ehlers-Danlos Syndrome
Ptosis, Telecanthus, Peripheral arteriovenous fistula, Arterial dissection, Transient ischemic at... ORPHA:286
Alzahrani-Kuwahara Syndrome
Frontal bossing, Persistent left superior vena cava, Pulmonary artery sling, Microcephaly OMIM:619268
Congenitally Corrected Transposition Of The Great Arteries
Pulmonary artery atresia, Patent ductus arteriosus, Bilateral superior vena cava with bridging ve... ORPHA:216694
Biliary, Renal, Neurologic, And Skeletal Syndrome
Pulmonary artery dilatation, Recurrent respiratory infections, Frontal bossing, Patent ductus art... OMIM:619534
Cardiofaciocutaneous Syndrome 3
OMIM:615279
Melorheostosis, Isolated
OMIM:155950

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.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

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

The IMPC Newsletter

Get highlights of the most important data releases, news and events, delivered straight to your email inbox

Subscribe to newsletter