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Gene: Map2k1 MGI:1346866

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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

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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
Downslanted palpebral fissures, Aplasia/Hypoplasia of the eyebrow, Epicanthus, Macrocephaly, Bipa... 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
Macrocephaly, Biparietal narrowing, Dolichocephaly, Frontal bossing OMIM:153470
Pulmonary Atresia With Ventricular Septal Defect
Pulmonary artery atresia OMIM:178370
Craniosynostosis 1
Oxycephaly, Sagittal craniosynostosis, Scaphocephaly, Turricephaly, Biparietal narrowing, Dolicho... OMIM:123100
Heparin Cofactor Ii Deficiency
Post-angioplasty coronary artery restenosis OMIM:612356
Ventricular Septal Defect 3
Patent ductus arteriosus, Pulmonary artery stenosis OMIM:614432
Deafness, Congenital Heart Defects, And Posterior Embryotoxon
Tetralogy of Fallot, Peripheral pulmonary artery stenosis OMIM:617992
Non-Distal Monosomy 10Q
Epicanthus, Synophrys, Biparietal narrowing, Ptosis, Upslanted palpebral fissure ORPHA:1581
Pulmonary Atresia-Intact Ventricular Septum Syndrome
Patent ductus arteriosus, Pulmonary artery atresia ORPHA:1208
Ptosis-Upper Ocular Movement Limitation-Absence Of Lacrimal Punctum Syndrome
Absent lacrimal punctum, Absent eyelashes, Biparietal narrowing, Ptosis, Thick eyebrow, Highly ar... ORPHA:228396
Atrioventricular Septal Defect, Susceptibility To, 2
Pulmonary artery atresia, Right aortic arch with mirror image branching OMIM:606217
Placental Insufficiency
Abnormal umbilical cord blood vessel morphology, Maternal hypertension, Preeclampsia, Small place... ORPHA:439167
Toluene Embryopathy
Short palpebral fissure, Biparietal narrowing, Microcephaly, Epicanthus ORPHA:1920
Tetraploidy
Aplasia/Hypoplasia of the lungs, Biparietal narrowing, Microcephaly ORPHA:3305
8P23.1 Microdeletion Syndrome
Patent ductus arteriosus, Downslanted palpebral fissures, Abnormal aortic morphology, Epicanthus,... ORPHA:251071
1Q44 Microdeletion Syndrome
Epicanthus, Synophrys, Biparietal narrowing, Frontal bossing, Microcephaly, Upslanted palpebral f... ORPHA:238769
Factor V Excess With Spontaneous Thrombosis
Peripheral arterial stenosis OMIM:134400
Macrocephaly/Autism Syndrome
Dilation of Virchow-Robin spaces, Epicanthus, Biparietal narrowing, Midface retrusion, Frontal bo... OMIM:605309
Isotretinoin Syndrome
Biparietal narrowing ORPHA:2305
Fetal Alcohol Syndrome
Epicanthus, Biparietal narrowing, Ptosis, Microcephaly, Telecanthus ORPHA:1915
Lig4 Syndrome
Brachycephaly, Epicanthus, Biparietal narrowing, Microcephaly, Upslanted palpebral fissure, Telec... ORPHA:99812
Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome
Biparietal narrowing, Microcephaly, Abnormal eyelash morphology ORPHA:2518
Camptodactyly-Joint Contractures-Facial Skeletal Defects Syndrome
Ptosis, Biparietal narrowing, Abnormal calvaria morphology ORPHA:1323
Intellectual Disability, Buenos-Aires Type
Downslanted palpebral fissures, Blepharophimosis, Biparietal narrowing, Abnormal calvaria morphol... ORPHA:3079
Hyperphosphatasia With Impaired Intellectual Development Syndrome 2
Left unicoronal synostosis, Plagiocephaly, Long palpebral fissure, Microcephaly, Peripheral pulmo... OMIM:614749
Brachymorphism-Onychodysplasia-Dysphalangism Syndrome
Brachycephaly, Epicanthus, Biparietal narrowing, Frontal bossing, Microcephaly, Thick eyebrow ORPHA:1292
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome
Downslanted palpebral fissures, Biparietal narrowing, Epicanthus ORPHA:1770
Peho Syndrome
Epicanthus, Biparietal narrowing, Midface retrusion, Palpebral edema, Microcephaly, Recurrent res... ORPHA:2836
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome
Blepharophimosis, Ptosis, Biparietal narrowing ORPHA:2031
Keutel Syndrome
Recurrent respiratory infections, Midface retrusion, Recurrent sinusitis, Pulmonary artery stenosis ORPHA:85202
Tricuspid Atresia
Pulmonary artery atresia, Transposition of the great arteries, Persistent left superior vena cava... ORPHA:1209
3Q29 Microduplication Syndrome
Downslanted palpebral fissures, Macrocephaly, Biparietal narrowing, Microcephaly, Craniosynostosis ORPHA:251038
X-Linked Intellectual Disability, Cabezas Type
Downslanted palpebral fissures, Epicanthus, Blepharophimosis, Synophrys, Macrocephaly, Biparietal... ORPHA:85293
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome
Upslanted palpebral fissure, Biparietal narrowing, Turricephaly, Microcephaly ORPHA:1005
Truncus Arteriosus
Abnormal superior vena cava morphology, Patent ductus arteriosus, Truncus arteriosus, Anomalous o... ORPHA:3384
Mucolipidosis Type Iv
Biparietal narrowing, Microcephaly ORPHA:578
Congenital Heart Defects, Multiple Types, 7
Double aortic arch, Tetralogy of Fallot, Pulmonary artery atresia, Right aortic arch, Aortopulmon... OMIM:618780
15Q14 Microdeletion Syndrome
Biparietal narrowing, Microcephaly ORPHA:261190
Linear Nevus Sebaceus Syndrome
Plagiocephaly, Biparietal narrowing, Prominent occiput, Frontal bossing, Telecanthus ORPHA:2612
Cranioectodermal Dysplasia 3
Sagittal craniosynostosis, Scaphocephaly, Macrocephaly, Dolichocephaly, Frontal bossing, Peripher... OMIM:614099
Ogden Syndrome
Downslanted palpebral fissures, Aplasia/Hypoplasia of the eyebrow, Pulmonary artery stenosis, Fro... ORPHA:276432
X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome
Microcephaly, Pulmonary artery stenosis ORPHA:435938
Joubert Syndrome With Oculorenal Defect
Ptosis, Biparietal narrowing, Highly arched eyebrow ORPHA:2318
Congenital Myopathy 12
Scaphocephaly, Dolichocephaly, Pulmonary artery stenosis OMIM:612540
Joubert Syndrome With Renal Defect
Ptosis, Biparietal narrowing, Highly arched eyebrow ORPHA:220497
Joubert Syndrome
Ptosis, Biparietal narrowing, Highly arched eyebrow ORPHA:475
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome
Upslanted palpebral fissure, Pulmonary artery stenosis ORPHA:75389
Aortic Aneurysm, Familial Thoracic 6
Ascending tubular aorta aneurysm, Moyamoya phenomenon, Descending aortic dissection, Aortic aneur... 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
Downslanted palpebral fissures, Aplasia/Hypoplasia of the eyebrow, Epicanthus, Macrocephaly, Bipa... ORPHA:1340
Joubert Syndrome With Ocular Defect
Ptosis, Biparietal narrowing, Highly arched eyebrow ORPHA:220493
Arterial Tortuosity Syndrome
Aortic root aneurysm, Short palpebral fissure, Vascular dilatation, Abnormal carotid artery morph... ORPHA:3342
Congenital Heart Defects, Multiple Types, 6
Double outlet right ventricle, Hypoplastic pulmonary veins, Coarctation of aorta, Total anomalous... OMIM:613854
Kleefstra Syndrome
Brachycephaly, Synophrys, Coarctation of aorta, Tetralogy of Fallot, Microcephaly, Pulmonary arte... ORPHA:261494
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2
Aortic root aneurysm, Patent ductus arteriosus, Downslanted palpebral fissures, Lacrimal duct ste... OMIM:617506
Monosomy 18Q
Patent ductus arteriosus, Downslanted palpebral fissures, Epicanthus, Biparietal narrowing, Aorti... ORPHA:1600
16Q24.3 Microdeletion Syndrome
Upslanted palpebral fissure, Biparietal narrowing, Highly arched eyebrow, Frontal bossing ORPHA:261250
Immunodeficiency 49
Short palpebral fissure, Upslanted palpebral fissure, Pulmonary artery stenosis OMIM:617237
Fadd-Related Immunodeficiency
Pulmonary artery atresia ORPHA:306550
Hadziselimovic Syndrome
Epicanthus, Ptosis, Microcephaly, Pulmonary artery atresia, Tetralogy of Fallot OMIM:612946
Focal Cortical Dysplasia, Type Ii
Astrocytosis OMIM:607341
Right Pulmonary Artery, Anomalous Origin Of, Familial
Patent ductus arteriosus, Anomalous origin of right pulmonary artery from ascending aorta, Coarct... OMIM:610338
Arterial Tortuosity Syndrome
Aortic tortuosity, Aortic root aneurysm, Short palpebral fissure, Downslanted palpebral fissures,... OMIM:208050
Intellectual Developmental Disorder, X-Linked, Syndromic, 35
Epicanthus, Dilation of Virchow-Robin spaces, Dolichocephaly, Microcephaly, Pulmonary artery sten... OMIM:300998
Mosaic Trisomy 9
Patent ductus arteriosus, Biparietal narrowing, Abnormal lung lobation, Prominent occiput, Microc... ORPHA:99776
Lathosterolosis
Downslanted palpebral fissures, Epicanthus, Biparietal narrowing, Ptosis, Microcephaly ORPHA:46059
Progressive Multifocal Leukoencephalopathy
Abnormal astrocyte morphology, Abnormal oligodendroglia morphology ORPHA:217260
Aortic Aneurysm, Familial Thoracic 4
Patent ductus arteriosus, Carotid artery stenosis, Ascending tubular aorta aneurysm, Posterior ce... OMIM:132900
Atrial Septal Defect 8
Anomalous pulmonary venous return OMIM:614433
Alagille Syndrome 2
Tetralogy of Fallot, Peripheral pulmonary artery stenosis OMIM:610205
Joubert Syndrome With Hepatic Defect
Ptosis, Macrocephaly, Biparietal narrowing, Highly arched eyebrow ORPHA:1454
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Small placenta ORPHA:73272
Familial Aortic Dissection
Patent ductus arteriosus, Aortic root aneurysm, Coronary artery atherosclerosis, Descending aorti... ORPHA:229
Silver-Russell Syndrome Due To A Point Mutation
Small placenta, Oligohydramnios ORPHA:397590
Distal 22Q11.2 Microduplication Syndrome
Patent ductus arteriosus, Downslanted palpebral fissures, Epicanthus, Macrocephaly, Biparietal na... ORPHA:261337
Oculofaciocardiodental Syndrome
Patent ductus arteriosus, Ptosis, Highly arched eyebrow, Peripheral pulmonary artery stenosis ORPHA:2712
Orofaciodigital Syndrome Type 6
Biparietal narrowing, Epicanthus, Highly arched eyebrow, Frontal bossing ORPHA:2754
Alagille Syndrome
Brachycephaly, Downslanted palpebral fissures, Peripheral pulmonary artery stenosis, Frontal bossing ORPHA:52
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome
Brachycephaly, Plagiocephaly, Epicanthus, Frontal bossing, Peripheral pulmonary artery stenosis, ... OMIM:280000
Autosomal Recessive Cutis Laxa Type 1
Downslanted palpebral fissures, Vascular dilatation, Pneumothorax, Dilatation of the ventricular ... ORPHA:90349
14Q24.1Q24.3 Microdeletion Syndrome
Downslanted palpebral fissures, Truncus arteriosus, Synophrys, Midface retrusion, Pulmonary arter... ORPHA:401935
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Anomalous origin of left pulmonary artery from ascending aorta, Patent ductus arteriosus, Aortopu... ORPHA:99050
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Biparietal narrowing, Recurrent respiratory infections ORPHA:935
X-Linked Intellectual Disability, Nascimento Type
Patent ductus arteriosus, Double outlet right ventricle, Synophrys, Macrocephaly, Midface retrusi... ORPHA:163956
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs
Pulmonary artery stenosis, Pulmonary hypoplasia, Bilateral lung agenesis OMIM:611812
Heterotaxy, Visceral, 4, Autosomal
Transposition of the great arteries, Bilateral superior vena cava, Total anomalous pulmonary veno... OMIM:613751
Pelizaeus-Merzbacher Disease
Reduction of oligodendroglia, Microcephaly OMIM:312080
Werner Syndrome
Atherosclerosis, Neoplasm of the lung, Pulmonary artery stenosis, Abnormal cerebral vascular morp... ORPHA:902
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation
Polyhydramnios, Umbilical hernia, Large placenta ORPHA:254534
Van Esch-O'Driscoll Syndrome
Short palpebral fissure, Microcephaly, Pulmonary artery stenosis, Upslanted palpebral fissure, Sh... OMIM:301030
Contractures-Developmental Delay-Pierre Robin Syndrome
Downslanted palpebral fissures, Peripheral pulmonary artery stenosis ORPHA:436003
Encephalocraniocutaneous Lipomatosis
Eyelid coloboma, Limbal dermoid, Peripheral pulmonary artery stenosis OMIM:613001
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome
Aortic root aneurysm, Patent ductus arteriosus, Recurrent aspiration pneumonia, Epicanthus, Synop... ORPHA:280633
Omodysplasia 1
Epicanthus, Blepharophimosis, Narrow palpebral fissure, Axillary pterygium, Frontal bossing, Popl... OMIM:258315
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Patent ductus arteriosus, Brachycephaly, Alveolar capillary dysplasia, Interrupted aortic arch, P... OMIM:265380
Smith-Lemli-Opitz Syndrome
Patent ductus arteriosus, Downslanted palpebral fissures, Epicanthus, Biparietal narrowing, Abnor... ORPHA:818
Down Syndrome
Patent ductus arteriosus, Double outlet right ventricle, Brachycephaly, Upslanted palpebral fissu... OMIM:190685
Pulmonary Hypertension, Primary, 1
Pulmonary artery vasoconstriction, Arterial intimal fibrosis, Pulmonary arterial medial hypertrop... OMIM:178600
Primary Pulmonary Hypoplasia
Pneumothorax, Epicanthus, Pulmonary hypoplasia, Microcephaly, Recurrent respiratory infections, A... ORPHA:2257
Recombinant 8 Syndrome
Patent ductus arteriosus, Tetralogy of Fallot, Pulmonary artery stenosis ORPHA:96167
Cardiac Diverticulum
Patent ductus arteriosus, Abnormal aortic morphology, Abnormal coronary artery origin, Coarctatio... ORPHA:1686
Relapsing Polychondritis
Conjunctivitis, Vascular dilatation, Large vessel vasculitis, Biparietal narrowing, Atelectasis ORPHA:728
Ogden Syndrome
Patent ductus arteriosus, Sparse eyebrow, Downslanted palpebral fissures, Abnormal eyelid morphol... OMIM:300855
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Patent ductus arteriosus, Double outlet right ventricle, Synophrys, Macrocephaly, Pulmonary hypop... OMIM:618316
Scimitar Syndrome
Patent ductus arteriosus, Double outlet right ventricle, Pulmonary sequestration, Pneumothorax, T... ORPHA:185
Cutis Laxa, Autosomal Recessive, Type Ic
Vascular dilatation, Midface retrusion, Pulmonary hypoplasia, Dolichocephaly, Emphysema, Recurren... OMIM:613177
Brachytelephalangic Chondrodysplasia Punctata
Patent ductus arteriosus, Recurrent respiratory infections, Pulmonary artery stenosis ORPHA:79345
Syndactyly-Telecanthus-Anogenital And Renal Malformations Syndrome
Telecanthus, Eyelid coloboma, Pulmonary artery stenosis ORPHA:140952
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects
Pulmonary artery atresia, Tetralogy of Fallot OMIM:108900
Noonan Syndrome
Downslanted palpebral fissures, Ptosis, Midface retrusion, Pulmonary artery stenosis ORPHA:648
Multisystemic Smooth Muscle Dysfunction Syndrome
Patent ductus arteriosus, Common carotid artery aneurysm, Aortic arch aneurysm, Vascular dilatati... OMIM:613834
Sporadic Creutzfeldt-Jakob Disease
Astrocytosis, Gliosis, Recurrent aspiration pneumonia ORPHA:204
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities
Macrocephaly, Recurrent respiratory infections, Peripheral pulmonary artery stenosis OMIM:619575
Phaver Syndrome
Downslanted palpebral fissures, Epicanthus, Pterygium, Coarctation of aorta, Hypoplastic aortic a... ORPHA:2876
Autosomal Dominant Cutis Laxa
Dilatation of the ventricular cavity, Bronchiectasis, Aortic aneurysm, Coarctation of aorta, Emph... ORPHA:90348
X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome
Dilatation of the ventricular cavity, Epicanthus, Dolichocephaly, Narrow palpebral fissure, Micro... ORPHA:459070
Trisomy 8P
Abnormal lung lobation, Recurrent upper respiratory tract infections, Microcephaly, Peripheral pu... ORPHA:264450
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations
Craniosynostosis, Telecanthus, Peripheral pulmonary artery stenosis OMIM:300707
C Syndrome
Epicanthus, Biparietal narrowing, Microcephaly, Trigonocephaly, Upslanted palpebral fissure ORPHA:1308
Fetal Akinesia Deformation Sequence 1
Polyhydramnios, Fetal akinesia sequence, Short umbilical cord, Decreased fetal movement, Nonimmun... OMIM:208150
Autosomal Recessive Malignant Osteopetrosis
Macrocephaly, Craniosynostosis, Pulmonary artery stenosis, Recurrent respiratory infections ORPHA:667
Cutis Laxa, Autosomal Dominant 1
Peripheral pulmonary artery stenosis, Bronchiectasis, Emphysema OMIM:123700
Heart Defects, Congenital, And Other Congenital Anomalies
Patent ductus arteriosus, Truncus arteriosus, Interrupted aortic arch, Pulmonary artery stenosis,... OMIM:600001
Aniridia-Cerebellar Ataxia-Intellectual Disability Syndrome
Abnormality of the pulmonary artery ORPHA:1065
Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy
Astrocytosis, Macrocephaly OMIM:611087
Alagille Syndrome 1
Coarctation of aorta, Frontal bossing, Renal artery stenosis, Peripheral pulmonary artery stenosi... OMIM:118450
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Short palpebral fissure, Plagiocephaly, Epicanthus, Blepharophimosis, Pulmonary hypoplasia, Abnor... ORPHA:96334
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature
Patent ductus arteriosus, Distichiasis, Peripheral arterial stenosis, Varicose veins OMIM:126320
Adams-Oliver Syndrome 1
Calvarial skull defect, Tetralogy of Fallot, Microcephaly, Pulmonary artery stenosis OMIM:100300
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7
Astrocytosis OMIM:600795
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Double outlet right ventricle, Downslanted palpebral fissures, Macrocephaly, Midface retrusion, M... OMIM:301056
Velocardiofacial Syndrome
Blepharophimosis, Interrupted aortic arch, Narrow palpebral fissure, Double aortic arch, Right ao... OMIM:192430
Aminopterin/Methotrexate Embryofetopathy
Pulmonary artery atresia, Tetralogy of Fallot, Microcephaly, Epicanthus ORPHA:1908
Heterotaxy, Visceral, 8, Autosomal
Double outlet right ventricle, Congenitally corrected transposition of the great arteries with ve... OMIM:617205
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Patent ductus arteriosus, Mild microcephaly, Interrupted aortic arch, Pulmonary artery stenosis, ... ORPHA:2255
Heterotaxy, Visceral, 7, Autosomal
Interrupted aortic arch, Pulmonary artery hypoplasia, Total anomalous pulmonary venous return, Pu... OMIM:616749
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities
Patent ductus arteriosus, Medial flaring of the eyebrow, Synophrys, Broad eyebrow, Narrow palpebr... OMIM:620113
Seckel Syndrome 9
Scaphocephaly, Dolichocephaly, Pulmonary artery hypoplasia, Microcephaly, Recurrent respiratory i... OMIM:616777
Congenital Total Pulmonary Venous Return Anomaly
Patent ductus arteriosus, Double outlet right ventricle, Cardiac total anomalous pulmonary venous... ORPHA:99125
Hardikar Syndrome
Patent ductus arteriosus, Lacrimal duct stenosis, Coarctation of aorta, Pulmonary artery stenosis... OMIM:301068
Double Outlet Right Ventricle
Double outlet right ventricle, Truncus arteriosus, Narrow palpebral fissure, Coarctation of aorta... ORPHA:3426
Neu-Laxova Syndrome 1
Polyhydramnios, Fetal akinesia sequence, Spina bifida, Short umbilical cord, Decreased fetal move... OMIM:256520
Keutel Syndrome
Recurrent bronchitis, Midface retrusion, Emphysema, Pulmonary artery hypoplasia, Peripheral pulmo... OMIM:245150
Familial Infantile Bilateral Striatal Necrosis
Astrocytosis, Basal ganglia gliosis ORPHA:225154
Mowat-Wilson Syndrome
Patent ductus arteriosus, Downslanted palpebral fissures, Broad eyebrow, Pulmonary artery sling, ... OMIM:235730
Syndromic Diarrhea
Patent ductus arteriosus, Tetralogy of Fallot, Peripheral pulmonary artery stenosis ORPHA:84064
Restrictive Dermopathy
Polyhydramnios, Short umbilical cord, Decreased fetal movement, Large placenta, Small placenta, P... ORPHA:1662
Right Atrial Isomerism
Abnormal lung lobation, Tetralogy of Fallot, Total anomalous pulmonary venous return, Pulmonary a... OMIM:208530
Behavioral Variant Of Frontotemporal Dementia
Astrocytosis ORPHA:275864
Robinow Syndrome, Autosomal Dominant 3
Patent ductus arteriosus, Upslanted palpebral fissure, Epicanthus, Macrocephaly, Midface retrusio... OMIM:616894
Microphthalmia, Syndromic 9
Patent ductus arteriosus, Truncus arteriosus, Bilateral lung agenesis, Agenesis of pulmonary vess... OMIM:601186
Cutis Laxa, Autosomal Recessive, Type Ib
Aortic root aneurysm, Downslanted palpebral fissures, Pulmonary artery aneurysm, Vascular tortuos... OMIM:614437
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion
Polyhydramnios, Umbilical hernia, Large placenta ORPHA:254528
Diaphragmatic Hernia 4, With Cardiovascular Defects
Aortic root aneurysm, Downslanted palpebral fissures, Aortopulmonary window, Macrocephaly, Pulmon... OMIM:620025
Mosaic Trisomy 1
Downslanted palpebral fissures, Congenital bilateral ptosis, Macrocephaly, Pulmonary hypoplasia, ... ORPHA:1692
Williams Syndrome
Patent ductus arteriosus, Aortic arch aneurysm, Recurrent respiratory infections, Abnormal caroti... ORPHA:904
Fibromuscular Dysplasia, Multifocal
Downslanted palpebral fissures, Pulmonary artery aneurysm, Tortuous cerebral arteries, Celiac art... OMIM:619329
Scleromyxedema
Transient ischemic attack, Abnormal coronary artery morphology, Abnormal lung morphology, Stroke,... ORPHA:167635
Heterotaxy, Visceral, 12, Autosomal
Patent ductus arteriosus, Double outlet right ventricle, Congenitally corrected transposition of ... OMIM:619702
Williams-Beuren Syndrome
Medial flaring of the eyebrow, Coronary artery stenosis, Epicanthus, Blepharophimosis, Retinal ar... OMIM:194050
Inherited Creutzfeldt-Jakob Disease
Astrocytosis, Stroke-like episode ORPHA:282166
Duodenal Atresia
Abnormality of the pulmonary artery ORPHA:1203
Greenberg Dysplasia
Polyhydramnios, Hydrops fetalis, Nonimmune hydrops fetalis, Echogenic fetal bowel, Stillbirth, La... OMIM:215140
Meester-Loeys Syndrome
Aortic root aneurysm, Downslanted palpebral fissures, Ascending tubular aorta aneurysm, Pulmonary... OMIM:300989
Mosaic Trisomy 16
Maternal diabetes, Preeclampsia, Large placenta, Single umbilical artery, Premature birth ORPHA:1708
Kagami-Ogata Syndrome
Polyhydramnios, Premature birth, Large placenta ORPHA:254519
Congenital Tracheomalacia
Patent ductus arteriosus, Pneumothorax, Bronchiectasis, Pulmonary hypoplasia, Emphysema, Double a... ORPHA:95430
Cardiac, Facial, And Digital Anomalies With Developmental Delay
Patent ductus arteriosus, Double outlet right ventricle, Epicanthus, Coarctation of aorta, Ptosis... OMIM:618164
Adams-Oliver Syndrome
Pulmonary artery atresia, Calvarial skull defect, Arteriovenous malformation, Tetralogy of Fallot ORPHA:974
Trichohepatoenteric Syndrome 1
Polyhydramnios, Abnormalities of placenta or umbilical cord, Large placenta OMIM:222470
Hyperlysinemia
Thin eyebrow, Pulmonary artery hypoplasia, Recurrent pneumonia, Microcephaly, Craniosynostosis ORPHA:2203
Kallmann Syndrome-Heart Disease Syndrome
Pulmonary artery hypoplasia, Double outlet right ventricle, Right aortic arch, Anomalous origin o... ORPHA:2326
Hughes-Stovin Syndrome
Vasculitis, Pulmonary artery aneurysm, Arterial stenosis ORPHA:228116
Coffin-Siris Syndrome 4
Patent ductus arteriosus, Long eyelashes, Ptosis, Microcephaly, Pulmonary artery atresia, Thick e... OMIM:614609
Progressive Non-Fluent Aphasia
Astrocytosis, Stroke ORPHA:100070
Pagod Syndrome
Abnormal aortic morphology, Pulmonary hypoplasia, Abnormality of the pulmonary artery, Pulmonary ... ORPHA:991
Heterotaxy, Visceral, 5, Autosomal
Bilateral trilobed lung, Double outlet right ventricle, Patent ductus arteriosus, Ascending tubul... OMIM:270100
Restrictive Dermopathy 1
Polyhydramnios, Short umbilical cord, Hydropic placenta, Decreased fetal movement, Premature rupt... OMIM:275210
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly
Patent ductus arteriosus, Absent pulmonary artery, Tetralogy of Fallot, Coarctation of aorta OMIM:600460
Cardiac Valvular Dysplasia 2
Ascending tubular aorta aneurysm, Pulmonary artery dilatation OMIM:620067
Meckel Syndrome, Type 1
Anencephaly, Oligohydramnios, Breech presentation, Large placenta, Occipital encephalocele, Singl... OMIM:249000
Stuve-Wiedemann Syndrome 1
Short palpebral fissure, Pulmonary arterial medial hypertrophy, Midface retrusion, Pulmonary hypo... OMIM:601559
Marfan Syndrome
Aortic tortuosity, Downslanted palpebral fissures, Ascending tubular aorta aneurysm, Descending a... ORPHA:558
Congenital Tracheal Stenosis
Anomalous origin of left pulmonary artery from ascending aorta, Patent ductus arteriosus, Ascendi... ORPHA:141127
Cardiomyopathy, Dilated, 1S
Pulmonary artery hypoplasia, Coarctation of aorta OMIM:613426
Loeys-Dietz Syndrome 2
Aortic root aneurysm, Abdominal aortic aneurysm, Patent ductus arteriosus, Aortic arch aneurysm, ... OMIM:610168
Beckwith-Wiedemann Syndrome
Polyhydramnios, Large placenta, Subchorionic septal cyst, Premature birth, Umbilical hernia ORPHA:116
Cockayne Syndrome Type 3
Aortic root aneurysm, Stroke, Progressive microcephaly, Premature coronary artery atherosclerosis... ORPHA:90324
Loeys-Dietz Syndrome 1
Aortic root aneurysm, Patent ductus arteriosus, Pulmonary artery aneurysm, Dilatation of the duct... OMIM:609192
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Astrocytosis, Recurrent lower respiratory tract infections, Atelectasis ORPHA:258
Marfan Syndrome
Aortic root aneurysm, Downslanted palpebral fissures, Ascending tubular aorta aneurysm, Pneumotho... OMIM:154700
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Astrocytosis, Microcephaly ORPHA:309854
Viss Syndrome
Aortic tortuosity, Brachycephaly, Ascending tubular aorta aneurysm, Pneumothorax, Carotid artery ... OMIM:619472
Osteogenesis Imperfecta, Type Vii
Absent pulmonary artery, Hypoplastic pulmonary veins, Decreased calvarial ossification OMIM:610682
Supranuclear Palsy, Progressive, 1
Astrocytosis, Gliosis OMIM:601104
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Astrocytosis, Gliosis OMIM:203700
Atrial Septal Defect, Ostium Primum Type
Recurrent respiratory infections, Pulmonary artery dilatation ORPHA:99106
Charge Syndrome
Patent ductus arteriosus, Double outlet right ventricle, Downslanted palpebral fissures, Ptosis, ... OMIM:214800
Cardiac Valvular Dysplasia 1
Pulmonary artery atresia, Left aortic arch with cervical origin of the right subclavian artery, A... OMIM:212093
Vascular Ehlers-Danlos Syndrome
Ascending tubular aorta aneurysm, Pneumothorax, Pulmonary artery aneurysm, Vascular dilatation, A... ORPHA:286
Alzahrani-Kuwahara Syndrome
Pulmonary artery sling, Persistent left superior vena cava, Microcephaly, Frontal bossing OMIM:619268
Biliary, Renal, Neurologic, And Skeletal Syndrome
Patent ductus arteriosus, Pulmonary artery dilatation, Frontal bossing, Upslanted palpebral fissu... OMIM:619534
Congenitally Corrected Transposition Of The Great Arteries
Pulmonary artery atresia, Double aortic arch, Bilateral superior vena cava with bridging vein, Pa... ORPHA:216694
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Patent ductus arteriosus, Primary microcephaly, Epicanthus, Broad eyebrow, Abnormality of the pul... ORPHA:261552
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Primary microcephaly, Broad eyebrow, Abnormality of the pulmonary artery, Coarctation of aorta, P... ORPHA:261537
Mowat-Wilson Syndrome
Patent ductus arteriosus, Horizontal eyebrow, Broad eyebrow, Coarctation of aorta, Pulmonary arte... 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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