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
preweaning lethality, complete penetrance Map2k1em1(IMPC)H HOM   Early adult 0.00

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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
Macrocephaly, Sparse or absent eyelashes, Abnormal eyelash morphology, Biparietal narrowing, Long... 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
Pulmonary Atresia With Ventricular Septal Defect
Pulmonary artery atresia OMIM:178370
Macrocephaly, Benign Familial
Frontal bossing, Macrocephaly, Dolichocephaly, Biparietal narrowing OMIM:153470
Supravalvular Aortic Stenosis
Pulmonary artery stenosis, Peripheral arterial stenosis OMIM:185500
Craniosynostosis 1
Turricephaly, Right unicoronal synostosis, Prominent occiput, Biparietal narrowing, Frontal bossi... OMIM:123100
Ventricular Septal Defect 3
Pulmonary artery stenosis, Patent ductus arteriosus OMIM:614432
Heparin Cofactor Ii Deficiency
Post-angioplasty coronary artery restenosis OMIM:612356
Deafness, Congenital Heart Defects, And Posterior Embryotoxon
Peripheral pulmonary artery stenosis, Tetralogy of Fallot OMIM:617992
Pulmonary Atresia-Intact Ventricular Septum Syndrome
Pulmonary artery atresia, Patent ductus arteriosus ORPHA:1208
Non-Distal Deletion 10Q
Biparietal narrowing, Synophrys, Ptosis, Epicanthus, Upslanted palpebral fissure ORPHA:1581
Ptosis-Upper Ocular Movement Limitation-Absence Of Lacrimal Punctum Syndrome
Telecanthus, Highly arched eyebrow, Absent eyelashes, Biparietal narrowing, Ptosis, Absent lacrim... ORPHA:228396
Atrioventricular Septal Defect, Susceptibility To, 2
Right aortic arch with mirror image branching, Pulmonary artery atresia OMIM:606217
Placental Insufficiency
Abnormal placenta morphology, Abnormal umbilical cord blood vessel morphology, Small placenta ORPHA:439167
Toluene Embryopathy
Microcephaly, Short palpebral fissure, Epicanthus, Biparietal narrowing ORPHA:1920
Tetraploidy
Microcephaly, Aplasia/Hypoplasia of the lungs, Biparietal narrowing ORPHA:3305
1Q44 Microdeletion Syndrome
Telecanthus, Biparietal narrowing, Synophrys, Microcephaly, Frontal bossing, Epicanthus, Upslante... ORPHA:238769
8P23.1 Microdeletion Syndrome
Transposition of the great arteries, Abnormal aortic morphology, Biparietal narrowing, Microcepha... ORPHA:251071
Isotretinoin Syndrome
Biparietal narrowing ORPHA:2305
Fetal Alcohol Syndrome
Telecanthus, Biparietal narrowing, Microcephaly, Ptosis, Epicanthus ORPHA:1915
Lig4 Syndrome
Brachycephaly, Telecanthus, Biparietal narrowing, Microcephaly, Epicanthus, Upslanted palpebral f... ORPHA:99812
Macrocephaly/Autism Syndrome
Postnatal macrocephaly, Dilation of Virchow-Robin spaces, Biparietal narrowing, Frontal bossing, ... OMIM:605309
Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome
Microcephaly, Abnormal eyelash morphology, Biparietal narrowing ORPHA:2518
Camptodactyly-Joint Contractures-Facial Skeletal Defects Syndrome
Ptosis, Biparietal narrowing, Abnormal calvaria morphology ORPHA:1323
Intellectual Disability, Buenos-Aires Type
Abnormal calvaria morphology, Biparietal narrowing, Microcephaly, Downslanted palpebral fissures,... ORPHA:3079
Hyperphosphatasia With Impaired Intellectual Development Syndrome 2
Plagiocephaly, Upslanted palpebral fissure, Microcephaly, Anterior plagiocephaly, Long palpebral ... OMIM:614749
Brachymorphism-Onychodysplasia-Dysphalangism Syndrome
Brachycephaly, Biparietal narrowing, Microcephaly, Frontal bossing, Thick eyebrow, Epicanthus ORPHA:1292
Congenital Heart Defects, Multiple Types, 7
Right aortic arch, Pulmonary artery atresia, Double aortic arch, Tetralogy of Fallot, Aortopulmon... OMIM:618780
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome
Downslanted palpebral fissures, Epicanthus, Biparietal narrowing ORPHA:1770
Developmental And Epileptic Encephalopathy 111
Macrocephaly, Long eyelashes, Pulmonary artery stenosis, Frontal bossing, Thick eyebrow, Recurren... OMIM:620504
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome
Ptosis, Blepharophimosis, Biparietal narrowing ORPHA:2031
3Q29 Microduplication Syndrome
Macrocephaly, Biparietal narrowing, Microcephaly, Downslanted palpebral fissures, Craniosynostosis ORPHA:251038
X-Linked Intellectual Disability, Cabezas Type
Macrocephaly, Biparietal narrowing, Synophrys, Microcephaly, Downslanted palpebral fissures, Epic... ORPHA:85293
Peho Syndrome
Palpebral edema, Biparietal narrowing, Microcephaly, Epicanthus, Recurrent respiratory infections ORPHA:2836
Tricuspid Atresia
Persistent left superior vena cava, Coarctation of aorta, Transposition of the great arteries, Pu... ORPHA:1209
Mucolipidosis Type Iv
Microcephaly, Biparietal narrowing ORPHA:578
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome
Microcephaly, Turricephaly, Upslanted palpebral fissure, Biparietal narrowing ORPHA:1005
Cleft Palate-Congenital Heart Defect-Intellectual Disability Syndrome Due To 15Q14 Microdeletion
Microcephaly, Biparietal narrowing ORPHA:261190
Truncus Arteriosus
Abnormal lung lobation, Anomalous origin of the left common carotid artery from the brachiocephal... ORPHA:3384
Linear Nevus Sebaceus Syndrome
Plagiocephaly, Telecanthus, Prominent occiput, Biparietal narrowing, Frontal bossing ORPHA:2612
Keutel Syndrome
Pulmonary artery stenosis, Recurrent respiratory infections, Recurrent sinusitis ORPHA:85202
Cranioectodermal Dysplasia 3
Macrocephaly, Telecanthus, Frontal bossing, Dolichocephaly, Peripheral pulmonary artery stenosis,... OMIM:614099
Ogden Syndrome
Pulmonary artery stenosis, Frontal bossing, Downslanted palpebral fissures, Aplasia/Hypoplasia of... ORPHA:276432
X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome
Microcephaly, Pulmonary artery stenosis ORPHA:435938
Focal Cortical Dysplasia, Type Ii
Astrocytosis OMIM:607341
Joubert Syndrome With Oculorenal Defect
Highly arched eyebrow, Ptosis, Biparietal narrowing ORPHA:2318
Joubert Syndrome With Renal Defect
Highly arched eyebrow, Ptosis, Biparietal narrowing ORPHA:220497
Atrial Septal Defect 8
Anomalous pulmonary venous return OMIM:614433
Congenital Myopathy 12
Pulmonary artery stenosis, Dolichocephaly, Scaphocephaly OMIM:612540
Joubert Syndrome
Highly arched eyebrow, Ptosis, Biparietal narrowing ORPHA:475
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction
Left superior vena cava draining directly to the left atrium, Pulmonary artery atresia OMIM:613759
Congenital Heart Defects, Multiple Types, 6
Transposition of the great arteries, Hypoplastic pulmonary veins, Right aortic arch, Pulmonary ar... OMIM:613854
Cardiofaciocutaneous Syndrome
Macrocephaly, Sparse or absent eyelashes, Abnormal eyelash morphology, Biparietal narrowing, Long... ORPHA:1340
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome
Pulmonary artery stenosis, Upslanted palpebral fissure ORPHA:75389
Fadd-Related Immunodeficiency
Pulmonary artery atresia ORPHA:306550
Joubert Syndrome With Ocular Defect
Highly arched eyebrow, Ptosis, Biparietal narrowing ORPHA:220493
Hadziselimovic Syndrome
Pulmonary artery atresia, Microcephaly, Ptosis, Tetralogy of Fallot, Epicanthus OMIM:612946
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2
Macrocephaly, Hypoplastic aortic arch, Aortic root aneurysm, Highly arched eyebrow, Relative macr... OMIM:617506
Kleefstra Syndrome
Brachycephaly, Highly arched eyebrow, Synophrys, Microcephaly, Pulmonary artery stenosis, Coarcta... ORPHA:261494
16Q24.3 Microdeletion Syndrome
Highly arched eyebrow, Frontal bossing, Upslanted palpebral fissure, Biparietal narrowing ORPHA:261250
Monosomy 18Q
Aortic aneurysm, Biparietal narrowing, Microcephaly, Downslanted palpebral fissures, Left aortic ... ORPHA:1600
Arterial Tortuosity Syndrome
Abnormal carotid artery morphology, Short palpebral fissure, Macrocephaly, Vascular dilatation, A... ORPHA:3342
Immunodeficiency 49
Pulmonary artery stenosis, Short palpebral fissure, Upslanted palpebral fissure OMIM:617237
Right Pulmonary Artery, Anomalous Origin Of, Familial
Anomalous origin of right pulmonary artery from ascending aorta, Coarctation of aorta, Patent duc... OMIM:610338
Intellectual Developmental Disorder, X-Linked, Syndromic 35
Dilation of Virchow-Robin spaces, Microcephaly, Pulmonary artery stenosis, Dolichocephaly, Epican... OMIM:300998
Mosaic Trisomy 9
Abnormal lung lobation, Prominent occiput, Biparietal narrowing, Microcephaly, Patent ductus arte... ORPHA:99776
Lathosterolosis
Biparietal narrowing, Microcephaly, Ptosis, Downslanted palpebral fissures, Epicanthus ORPHA:46059
Arterial Tortuosity Syndrome
Ischemic stroke, Short palpebral fissure, Aortic root aneurysm, Blepharophimosis, Aortic tortuosi... OMIM:208050
Cutis Laxa, Autosomal Recessive, Type Ia
Emphysema, Ascending tubular aorta aneurysm, Microcephaly, Vascular tortuosity, Recurrent respira... OMIM:219100
Joubert Syndrome With Hepatic Defect
Highly arched eyebrow, Ptosis, Macrocephaly, Biparietal narrowing ORPHA:1454
Progressive Multifocal Leukoencephalopathy
Abnormal astrocyte morphology, Abnormal oligodendroglia morphology ORPHA:217260
Silver-Russell Syndrome Due To A Point Mutation
Oligohydramnios, Small placenta ORPHA:397590
Distal 22Q11.2 Microduplication Syndrome
Palpebral edema, Macrocephaly, Biparietal narrowing, Microcephaly, Frontal bossing, Downslanted p... ORPHA:261337
Alagille Syndrome 2
Peripheral pulmonary artery stenosis, Tetralogy of Fallot OMIM:610205
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Small placenta ORPHA:73272
Orofaciodigital Syndrome Type 6
Highly arched eyebrow, Frontal bossing, Epicanthus, Biparietal narrowing ORPHA:2754
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs
Pulmonary artery stenosis, Congenital pulmonary airway malformation, Pulmonary hypoplasia, Bilate... OMIM:611812
Oculofaciocardiodental Syndrome
Highly arched eyebrow, Ptosis, Peripheral pulmonary artery stenosis, Patent ductus arteriosus ORPHA:2712
Alagille Syndrome
Brachycephaly, Frontal bossing, Downslanted palpebral fissures, Peripheral pulmonary artery stenosis ORPHA:52
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Recurrent respiratory infections, Biparietal narrowing ORPHA:935
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome
Brachycephaly, Plagiocephaly, Transposition of the great arteries, Telecanthus, Highly arched eye... OMIM:280000
Ciliary Dyskinesia, Primary, 20
Atelectasis, Persistent left superior vena cava, Pulmonary artery stenosis, Recurrent pneumonia, ... OMIM:615067
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Arteria lusoria, Anomalous origin of left pulmonary artery from ascending aorta, Transposition of... ORPHA:99050
Heterotaxy, Visceral, 4, Autosomal
Transposition of the great arteries, Right aortic arch, Pulmonary artery atresia, Total anomalous... OMIM:613751
Noonan Syndrome 2
Abnormal coronary artery origin, Telecanthus, Relative macrocephaly, Pulmonary artery stenosis, P... OMIM:605275
Primary Pulmonary Hypoplasia
Pneumothorax, Microcephaly, Pulmonary hypoplasia, Epicanthus, Recurrent respiratory infections, A... ORPHA:2257
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation
Large placenta, Polyhydramnios, Umbilical hernia ORPHA:254534
X-Linked Intellectual Disability, Nascimento Type
Macrocephaly, Abnormal vena cava morphology, Upslanted palpebral fissure, Synophrys, Tetralogy of... ORPHA:163956
Pelizaeus-Merzbacher Disease
Microcephaly, Reduction of oligodendroglia OMIM:312080
Werner Syndrome
Pulmonary artery stenosis, Atherosclerosis, Neoplasm of the lung, Abnormal cerebral vascular morp... ORPHA:902
Pulmonary Hypertension, Primary, 1
Arterial intimal fibrosis, Pulmonary artery vasoconstriction, Pulmonary arterial medial hypertrop... OMIM:178600
Encephalocraniocutaneous Lipomatosis
Limbal dermoid, Peripheral pulmonary artery stenosis, Eyelid coloboma OMIM:613001
Contractures-Developmental Delay-Pierre Robin Syndrome
Downslanted palpebral fissures, Peripheral pulmonary artery stenosis ORPHA:436003
Van Esch-O'Driscoll Syndrome
Short palpebral fissure, Shallow orbits, Microcephaly, Pulmonary artery stenosis, Upslanted palpe... OMIM:301030
Sporadic Creutzfeldt-Jakob Disease
Astrocytosis, Recurrent aspiration pneumonia, Gliosis ORPHA:204
Smith-Lemli-Opitz Syndrome
Abnormal lung lobation, Abnormal eyelash morphology, Biparietal narrowing, Microcephaly, Ptosis, ... ORPHA:818
Omodysplasia 1
Popliteal pterygium, Axillary pterygium, Pulmonary artery stenosis, Frontal bossing, Epicanthus, ... OMIM:258315
Scimitar Syndrome
Pneumothorax, Bronchogenic cyst, Left superior vena cava draining to coronary sinus, Partial anom... ORPHA:185
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Macrocephaly, Highly arched eyebrow, Pulmonary artery atresia, Synophrys, Pulmonary hypoplasia, T... OMIM:618316
Autosomal Recessive Cutis Laxa Type 1
Pneumothorax, Emphysema, Vascular dilatation, Dermatochalasis, Recurrent pneumonia, Dilatation of... ORPHA:90349
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Brachycephaly, Abnormal lung lobation, Partial anomalous pulmonary venous return, Hypoplastic aor... OMIM:265380
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome
Macrocephaly at birth, Prominent occiput, Aortic root aneurysm, Upslanted palpebral fissure, Syno... ORPHA:280633
Down Syndrome
Brachycephaly, Partial anomalous pulmonary venous return, Pulmonary artery stenosis, Tetralogy of... OMIM:190685
Cardiac Diverticulum
Abnormal coronary artery origin, Transposition of the great arteries, Partial anomalous pulmonary... ORPHA:1686
Acrofacial Dysostosis, Cincinnati Type
Pulmonary artery aneurysm, Macrocephaly, Anomalous origin of right coronary artery from the pulmo... OMIM:616462
Progressive Non-Fluent Aphasia
Astrocytosis ORPHA:100070
14Q24.1Q24.3 Microdeletion Syndrome
Downslanted palpebral fissures, Truncus arteriosus, Pulmonary artery atresia, Synophrys ORPHA:401935
Relapsing Polychondritis
Large vessel vasculitis, Vascular dilatation, Atelectasis, Biparietal narrowing, Conjunctivitis ORPHA:728
Ogden Syndrome
Pulmonary edema, Bilateral ptosis, Abnormal eyelid morphology, Long eyelashes, Microcephaly, Pulm... OMIM:300855
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects
Pulmonary artery atresia, Tetralogy of Fallot OMIM:108900
Waardenburg Syndrome Type 2
Abnormality of the pulmonary artery, Ptosis, Telecanthus ORPHA:895
Recombinant 8 Syndrome
Pulmonary artery stenosis, Tetralogy of Fallot, Patent ductus arteriosus ORPHA:96167
Syndactyly-Telecanthus-Anogenital And Renal Malformations Syndrome
Pulmonary artery stenosis, Telecanthus, Eyelid coloboma ORPHA:140952
Brachytelephalangic Chondrodysplasia Punctata
Pulmonary artery stenosis, Recurrent respiratory infections, Patent ductus arteriosus ORPHA:79345
Phaver Syndrome
Hypoplastic aortic arch, Pterygium, Pulmonary artery atresia, Downslanted palpebral fissures, Coa... ORPHA:2876
Aniridia-Cerebellar Ataxia-Intellectual Disability Syndrome
Abnormality of the pulmonary artery ORPHA:1065
Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy
Astrocytosis, Macrocephaly OMIM:611087
Cutis Laxa, Autosomal Recessive, Type Ic
Emphysema, Atelectasis, Vascular dilatation, Recurrent pneumonia, Dolichocephaly, Pulmonary hypop... OMIM:613177
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities
Recurrent respiratory infections, Macrocephaly, Peripheral pulmonary artery stenosis OMIM:619575
Double Outlet Left Ventricle
Pulmonary artery stenosis, Abnormal coronary artery course, Patent ductus arteriosus ORPHA:3427
Smooth Muscle Dysfunction Syndrome
Dilatation of the cerebral artery, Vascular dilatation, Common carotid artery aneurysm, Brachioce... OMIM:613834
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7
Astrocytosis OMIM:600795
Trisomy 8P
Abnormal lung lobation, Upslanted palpebral fissure, Microcephaly, Tetralogy of Fallot, Recurrent... ORPHA:264450
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations
Craniosynostosis, Peripheral pulmonary artery stenosis, Telecanthus OMIM:300707
Fetal Akinesia Deformation Sequence 1
Short umbilical cord, Stillbirth, Polyhydramnios, Small placenta, Increased nuchal translucency, ... OMIM:208150
C Syndrome
Biparietal narrowing, Trigonocephaly, Microcephaly, Epicanthus, Upslanted palpebral fissure ORPHA:1308
Autosomal Dominant Cutis Laxa
Emphysema, Aortic aneurysm, Bronchiolitis, Microcephaly, Ptosis, Coarctation of aorta, Dilatation... ORPHA:90348
X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome
Microcephaly, Pulmonary artery stenosis, Dolichocephaly, Dilatation of the ventricular cavity, Ep... ORPHA:459070
Congenital Heart Defects, Multiple Types, 9
Arteria lusoria, Transposition of the great arteries, Truncus arteriosus, Pulmonary artery atresi... OMIM:620294
Cutis Laxa, Autosomal Dominant 1
Bronchiectasis, Peripheral pulmonary artery stenosis, Emphysema OMIM:123700
Heart Defects, Congenital, And Other Congenital Anomalies
Transposition of the great arteries, Interrupted aortic arch, Truncus arteriosus, Microcephaly, P... OMIM:600001
Velocardiofacial Syndrome
Right aortic arch with mirror image branching, Interrupted aortic arch, Pulmonary artery atresia,... OMIM:192430
Heterotaxy, Visceral, 8, Autosomal
Congenitally corrected transposition of the great arteries with ventricular septal defect, Right ... OMIM:617205
Aminopterin/Methotrexate Embryofetopathy
Microcephaly, Pulmonary artery atresia, Epicanthus, Tetralogy of Fallot ORPHA:1908
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities
Secondary microcephaly, Medial flaring of the eyebrow, Broad eyebrow, Pulmonary artery atresia, S... OMIM:620113
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Macrocephaly, Telecanthus, Pulmonary artery atresia, Microcephaly, Downslanted palpebral fissures... OMIM:301056
Autosomal Recessive Malignant Osteopetrosis
Pulmonary artery stenosis, Craniosynostosis, Recurrent respiratory infections, Macrocephaly ORPHA:667
Seckel Syndrome 9
Pulmonary artery hypoplasia, Microcephaly, Dolichocephaly, Recurrent respiratory infections, Scap... OMIM:616777
Familial Infantile Bilateral Striatal Necrosis
Basal ganglia gliosis, Astrocytosis ORPHA:225154
X-Linked Mandibulofacial Dysostosis
Microcephaly, Ptosis, Downslanted palpebral fissures, Epicanthus, Aplasia/Hypoplasia of the eyebr... ORPHA:1131
Heterotaxy, Visceral, 7, Autosomal
Transposition of the great arteries, Interrupted aortic arch, Right aortic arch, Pulmonary artery... OMIM:616749
Alagille Syndrome 1
Stroke, Renal artery stenosis, Upslanted palpebral fissure, Frontal bossing, Coarctation of aorta... OMIM:118450
Noonan Syndrome
Pulmonary artery stenosis, Ptosis, Coarctation of aorta, Downslanted palpebral fissures, Patent d... ORPHA:648
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Plagiocephaly, Short palpebral fissure, Abnormal aortic arch morphology, Microcephaly, Frontal bo... ORPHA:96334
Adams-Oliver Syndrome 1
Microcephaly, Pulmonary artery stenosis, Calvarial skull defect, Tetralogy of Fallot OMIM:100300
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Transposition of the great arteries, Interrupted aortic arch, Pulmonary artery stenosis, Tetralog... ORPHA:2255
Behavioral Variant Of Frontotemporal Dementia
Astrocytosis ORPHA:275864
Ritscher-Schinzel Syndrome 2
Relative macrocephaly, Upslanted palpebral fissure, Pulmonary artery hypoplasia, Patent ductus ar... OMIM:300963
Neu-Laxova Syndrome 1
Short umbilical cord, Stillbirth, Polyhydramnios, Small placenta, Hydranencephaly, Spina bifida, ... OMIM:256520
Double Outlet Right Ventricle
Truncus arteriosus, Pulmonary artery atresia, Coarctation of aorta, Tetralogy of Fallot, Double o... ORPHA:3426
Congenital Total Pulmonary Venous Return Anomaly
Infracardiac total anomalous pulmonary venous connection, Transposition of the great arteries, Ca... ORPHA:99125
Restrictive Dermopathy
Short umbilical cord, Large placenta, Polyhydramnios, Small placenta, Premature birth, Premature ... ORPHA:1662
Right Atrial Isomerism
Abnormal lung lobation, Transposition of the great arteries, Pulmonary artery atresia, Total anom... OMIM:208530
Hardikar Syndrome
Patent ductus arteriosus, Pulmonary artery stenosis, Coarctation of aorta, Partial anomalous pulm... OMIM:301068
Microphthalmia, Syndromic 9
Right aortic arch with mirror image branching, Bilateral lung agenesis, Truncus arteriosus, Pulmo... OMIM:601186
Mowat-Wilson Syndrome
Broad eyebrow, Microcephaly, Pulmonary artery stenosis, Downslanted palpebral fissures, Ptosis, P... OMIM:235730
Duodenal Atresia
Abnormality of the pulmonary artery ORPHA:1203
Syndromic Diarrhea
Peripheral pulmonary artery stenosis, Tetralogy of Fallot, Patent ductus arteriosus ORPHA:84064
Mosaic Trisomy 1
Congenital bilateral ptosis, Macrocephaly, Pulmonary artery atresia, Frontal bossing, Coarctation... ORPHA:1692
Diaphragmatic Hernia 4, With Cardiovascular Defects
Macrocephaly, Aortic root aneurysm, Aortopulmonary window, Pulmonary artery hypoplasia, Downslant... OMIM:620025
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion
Large placenta, Polyhydramnios, Umbilical hernia ORPHA:254528
Inherited Creutzfeldt-Jakob Disease
Astrocytosis, Stroke-like episode ORPHA:282166
Klippel-Trénaunay Syndrome
Macrocephaly, Venous insufficiency, Peripheral arteriovenous fistula, Microcephaly, Patent ductus... ORPHA:90308
Fibromuscular Dysplasia, Multifocal
Pulmonary artery aneurysm, Dilatation of celiac artery, Tortuous cerebral arteries, Vertebral art... OMIM:619329
Scleromyxedema
Stroke, Transient ischemic attack, Abnormal lung morphology, Abnormal pulmonary artery morphology... ORPHA:167635
Robinow Syndrome, Autosomal Dominant 3
Macrocephaly, Telecanthus, Pulmonary artery atresia, Long eyelashes, Frontal bossing, Epicanthus,... OMIM:616894
Williams Syndrome
Abnormal carotid artery morphology, Retinal arteriolar tortuosity, Patent ductus arteriosus, Stro... ORPHA:904
Keutel Syndrome
Recurrent bronchitis, Peripheral pulmonary artery stenosis, Emphysema, Pulmonary artery hypoplasia OMIM:245150
Meester-Loeys Syndrome
Pulmonary artery aneurysm, Aortic root aneurysm, Ascending tubular aorta aneurysm, Relative macro... OMIM:300989
Congenital Tracheomalacia
Pneumothorax, Partial anomalous pulmonary venous return, Emphysema, Right aortic arch, Double aor... ORPHA:95430
Cornelia De Lange Syndrome 6
Telecanthus, Highly arched eyebrow, Pulmonary artery atresia, Synophrys, Microcephaly, Downslante... OMIM:620568
Heterotaxy, Visceral, 12, Autosomal
Left superior vena cava draining to coronary sinus, Partial anomalous pulmonary venous return, Hy... OMIM:619702
Greenberg Dysplasia
Stillbirth, Large placenta, Hydrops fetalis, Polyhydramnios, Increased nuchal translucency, Neona... OMIM:215140
Kagami-Ogata Syndrome
Polyhydramnios, Large placenta, Premature birth ORPHA:254519
Cardiac, Facial, And Digital Anomalies With Developmental Delay
Macrocephaly, Telecanthus, Pulmonary artery atresia, Microcephaly, Ptosis, Coarctation of aorta, ... OMIM:618164
Congenital Syphilis
Hydrops fetalis, Large placenta, Premature birth ORPHA:499009
Hughes-Stovin Syndrome
Vasculitis, Pulmonary artery aneurysm, Arterial stenosis ORPHA:228116
Adams-Oliver Syndrome
Calvarial skull defect, Arteriovenous malformation, Pulmonary artery atresia, Tetralogy of Fallot ORPHA:974
Hyperlysinemia
Pulmonary artery hypoplasia, Microcephaly, Recurrent pneumonia, Thin eyebrow, Craniosynostosis ORPHA:2203
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity
Atelectasis, Retinal arterial tortuosity, Telecanthus, Highly arched eyebrow, Pulmonary artery at... OMIM:620371
Kallmann Syndrome-Heart Disease Syndrome
Double outlet right ventricle, Anomalous origin of left coronary artery from the pulmonary artery... ORPHA:2326
Trichohepatoenteric Syndrome 1
Large placenta, Polyhydramnios, Abnormalities of placenta or umbilical cord OMIM:222470
Coffin-Siris Syndrome 4
Pulmonary artery atresia, Long eyelashes, Microcephaly, Ptosis, Thick eyebrow, Patent ductus arte... OMIM:614609
Williams-Beuren Syndrome
Medial flaring of the eyebrow, Stroke, Renal artery stenosis, Coronary artery stenosis, Epicanthu... OMIM:194050
Mosaic Trisomy 16
Single umbilical artery, Large placenta, Premature birth ORPHA:1708
Cutis Laxa, Autosomal Recessive, Type Ib
Pulmonary artery aneurysm, Emphysema, Arterial tortuosity, Aortic root aneurysm, Ascending tubula... OMIM:614437
Heterotaxy, Visceral, 5, Autosomal
Partial anomalous pulmonary venous return, Ascending tubular aorta aneurysm, Pulmonary artery atr... OMIM:270100
Pagod Syndrome
Abnormal aortic morphology, Pulmonary artery hypoplasia, Microcephaly, Pulmonary hypoplasia, Abno... ORPHA:991
Cardiac Valvular Dysplasia 2
Ascending tubular aorta aneurysm, Pulmonary artery dilatation OMIM:620067
Restrictive Dermopathy 1
Short umbilical cord, Stillbirth, Polyhydramnios, Premature birth, Neonatal death, Decreased feta... OMIM:275210
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly
Coarctation of aorta, Tetralogy of Fallot, Absent pulmonary artery, Patent ductus arteriosus OMIM:600460
Stuve-Wiedemann Syndrome 1
Pulmonary hypoplasia, Frontal bossing, Pulmonary arterial medial hypertrophy, Short palpebral fis... OMIM:601559
Congenital Tracheal Stenosis
Abnormal lung lobation, Anomalous origin of left pulmonary artery from ascending aorta, Pulmonary... ORPHA:141127
Meckel Syndrome, Type 1
Occipital encephalocele, Large placenta, Single umbilical artery, Breech presentation, Anencephal... OMIM:249000
Cockayne Syndrome Type 3
Premature coronary artery atherosclerosis, Aortic root aneurysm, Progressive microcephaly, Stroke... ORPHA:90324
Cardiomyopathy, Dilated, 1S
Coarctation of aorta, Pulmonary artery hypoplasia OMIM:613426
Marfan Syndrome
Emphysema, Dilatation of an abdominal artery, Aortic aneurysm, Aortic root aneurysm, Ascending tu... ORPHA:558
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Astrocytosis, Atelectasis, Recurrent lower respiratory tract infections ORPHA:258
Loeys-Dietz Syndrome 2
Pulmonary artery aneurysm, Dilatation of the cerebral artery, Arterial tortuosity, Descending tho... OMIM:610168
Lmna-Related Cardiocutaneous Progeria Syndrome
Emphysema, Coronary artery atherosclerosis, Aortic root aneurysm, Absent eyelashes, Absent eyebro... ORPHA:363618
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Microcephaly, Astrocytosis ORPHA:309854
Beckwith-Wiedemann Syndrome
Subchorionic septal cyst, Large placenta, Polyhydramnios, Premature birth, Umbilical hernia ORPHA:116
Marfan Syndrome
Pneumothorax, Emphysema, Aortic root aneurysm, Ascending tubular aorta aneurysm, Aortic dissectio... OMIM:154700
Telangiectasia, Hereditary Hemorrhagic, Type 4
Ischemic stroke, Spinal arteriovenous malformation, Dilatation of celiac artery, Arteriovenous fi... OMIM:610655
Viss Syndrome
Ectropion, Pulmonary artery aneurysm, Iliac artery aneurysm, Arterial tortuosity, Tortuous cerebr... OMIM:619472
Loeys-Dietz Syndrome 1
Pulmonary artery aneurysm, Dilatation of the cerebral artery, Arterial tortuosity, Descending tho... OMIM:609192
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Astrocytosis, Gliosis OMIM:203700
Supranuclear Palsy, Progressive, 1
Astrocytosis, Gliosis OMIM:601104
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome
Hepatic arteriovenous malformation, Aortic aneurysm, Stroke, Aortic dissection, Cerebral arteriov... OMIM:175050
Osteogenesis Imperfecta, Type Vii
Decreased calvarial ossification, Hypoplastic pulmonary veins, Absent pulmonary artery OMIM:610682
Atrial Septal Defect, Ostium Primum Type
Recurrent respiratory infections, Pulmonary artery dilatation ORPHA:99106
Cardiac Valvular Dysplasia 1
Arteria lusoria, Left aortic arch with cervical origin of the right subclavian artery, Pulmonary ... OMIM:212093
Charge Syndrome
Right aortic arch, Pulmonary artery atresia, Microcephaly, Ptosis, Downslanted palpebral fissures... OMIM:214800
Vascular Ehlers-Danlos Syndrome
Pneumothorax, Aplasia/Hypoplasia of the eyebrow, Pulmonary artery aneurysm, Vascular dilatation, ... ORPHA:286
Alzahrani-Kuwahara Syndrome
Microcephaly, Frontal bossing, Pulmonary artery sling, Persistent left superior vena cava OMIM:619268
Congenitally Corrected Transposition Of The Great Arteries
Bilateral superior vena cava with bridging vein, Pulmonary artery atresia, Double aortic arch, Pa... ORPHA:216694
Biliary, Renal, Neurologic, And Skeletal Syndrome
Recurrent lower respiratory tract infections, Right aortic arch, Frontal bossing, Patent ductus a... OMIM:619534
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Secondary microcephaly, Right unicoronal synostosis, Broad eyebrow, Telecanthus, Highly arched ey... ORPHA:261552
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Secondary microcephaly, Right unicoronal synostosis, Broad eyebrow, Telecanthus, Ptosis, Coarctat... ORPHA:261537
Mowat-Wilson Syndrome
Broad eyebrow, Telecanthus, Anterior plagiocephaly, Microcephaly, Coarctation of aorta, Horizonta... ORPHA:2152
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.

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

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