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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, Frontal bossing, Aplasia/Hypoplasia of the eyebrow, Sparse or abs... 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
Dolichocephaly, Biparietal narrowing, Frontal bossing, Macrocephaly OMIM:153470
Supravalvular Aortic Stenosis
Peripheral arterial stenosis, Pulmonary artery stenosis OMIM:185500
Craniosynostosis 1
Frontal bossing, Oxycephaly, Scaphocephaly, Prominent occiput, Turricephaly, Sagittal craniosynos... 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
Tetralogy of Fallot, Peripheral pulmonary artery stenosis OMIM:617992
Pulmonary Atresia-Intact Ventricular Septum Syndrome
Pulmonary artery atresia, Patent ductus arteriosus ORPHA:1208
Non-Distal Deletion 10Q
Upslanted palpebral fissure, Epicanthus, Ptosis, Biparietal narrowing, Synophrys ORPHA:1581
Ptosis-Upper Ocular Movement Limitation-Absence Of Lacrimal Punctum Syndrome
Highly arched eyebrow, Telecanthus, Thick eyebrow, Absent lacrimal punctum, Absent eyelashes, Pto... ORPHA:228396
Atrioventricular Septal Defect, Susceptibility To, 2
Pulmonary artery atresia, Right aortic arch with mirror image branching OMIM:606217
Placental Insufficiency
Small placenta, Abnormal placenta morphology, Abnormal umbilical cord blood vessel morphology ORPHA:439167
Toluene Embryopathy
Microcephaly, Short palpebral fissure, Biparietal narrowing, Epicanthus ORPHA:1920
Tetraploidy
Microcephaly, Biparietal narrowing, Aplasia/Hypoplasia of the lungs ORPHA:3305
1Q44 Microdeletion Syndrome
Frontal bossing, Telecanthus, Upslanted palpebral fissure, Microcephaly, Epicanthus, Biparietal n... ORPHA:238769
8P23.1 Microdeletion Syndrome
Downslanted palpebral fissures, Tetralogy of Fallot, Upslanted palpebral fissure, Abnormal aortic... ORPHA:251071
Isotretinoin Syndrome
Biparietal narrowing ORPHA:2305
Fetal Alcohol Syndrome
Telecanthus, Microcephaly, Epicanthus, Ptosis, Biparietal narrowing ORPHA:1915
Lig4 Syndrome
Telecanthus, Upslanted palpebral fissure, Microcephaly, Epicanthus, Brachycephaly, Biparietal nar... ORPHA:99812
Macrocephaly/Autism Syndrome
Dilation of Virchow-Robin spaces, Frontal bossing, Postnatal macrocephaly, Epicanthus, Biparietal... OMIM:605309
Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome
Microcephaly, Biparietal narrowing, Abnormal eyelash morphology ORPHA:2518
Camptodactyly-Joint Contractures-Facial Skeletal Defects Syndrome
Abnormal calvaria morphology, Ptosis, Biparietal narrowing ORPHA:1323
Intellectual Disability, Buenos-Aires Type
Abnormal calvaria morphology, Downslanted palpebral fissures, Microcephaly, Blepharophimosis, Bip... ORPHA:3079
Hyperphosphatasia With Impaired Intellectual Development Syndrome 2
Peripheral pulmonary artery stenosis, Plagiocephaly, Upslanted palpebral fissure, Anterior plagio... OMIM:614749
Brachymorphism-Onychodysplasia-Dysphalangism Syndrome
Frontal bossing, Thick eyebrow, Microcephaly, Brachycephaly, Epicanthus, Biparietal narrowing ORPHA:1292
Congenital Heart Defects, Multiple Types, 7
Aortopulmonary collateral arteries, Tetralogy of Fallot, Right aortic arch, Pulmonary artery atre... OMIM:618780
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome
Epicanthus, Biparietal narrowing, Downslanted palpebral fissures ORPHA:1770
Developmental And Epileptic Encephalopathy 111
Long eyelashes, Thick eyebrow, Pulmonary artery stenosis, Macrocephaly, Recurrent respiratory inf... OMIM:620504
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome
Ptosis, Biparietal narrowing, Blepharophimosis ORPHA:2031
3Q29 Microduplication Syndrome
Downslanted palpebral fissures, Microcephaly, Macrocephaly, Craniosynostosis, Biparietal narrowing ORPHA:251038
X-Linked Intellectual Disability, Cabezas Type
Downslanted palpebral fissures, Microcephaly, Epicanthus, Blepharophimosis, Macrocephaly, Biparie... ORPHA:85293
Peho Syndrome
Microcephaly, Epicanthus, Palpebral edema, Recurrent respiratory infections, Biparietal narrowing 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, Biparietal narrowing, Upslanted palpebral fissure, Turricephaly ORPHA:1005
Cleft Palate-Congenital Heart Defect-Intellectual Disability Syndrome Due To 15Q14 Microdeletion
Microcephaly, Biparietal narrowing ORPHA:261190
Truncus Arteriosus
Interrupted aortic arch, Pulmonary artery hypoplasia, Arteria lusoria, Abnormal coronary artery m... ORPHA:3384
Linear Nevus Sebaceus Syndrome
Plagiocephaly, Frontal bossing, Telecanthus, Prominent occiput, Biparietal narrowing ORPHA:2612
Keutel Syndrome
Pulmonary artery stenosis, Recurrent respiratory infections, Recurrent sinusitis ORPHA:85202
Cranioectodermal Dysplasia 3
Peripheral pulmonary artery stenosis, Telecanthus, Scaphocephaly, Sagittal craniosynostosis, Macr... OMIM:614099
Ogden Syndrome
Pulmonary artery stenosis, Aplasia/Hypoplasia of the eyebrow, Frontal bossing, Downslanted palpeb... ORPHA:276432
X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome
Pulmonary artery stenosis, Microcephaly 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, Scaphocephaly, Dolichocephaly OMIM:612540
Joubert Syndrome
Highly arched eyebrow, Ptosis, Biparietal narrowing ORPHA:475
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction
Pulmonary artery atresia, Left superior vena cava draining directly to the left atrium OMIM:613759
Congenital Heart Defects, Multiple Types, 6
Total anomalous pulmonary venous return, Tetralogy of Fallot, Right aortic arch, Coarctation of a... OMIM:613854
Cardiofaciocutaneous Syndrome
Downslanted palpebral fissures, Frontal bossing, Aplasia/Hypoplasia of the eyebrow, Sparse or abs... 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
Tetralogy of Fallot, Microcephaly, Epicanthus, Ptosis, Pulmonary artery atresia OMIM:612946
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2
Highly arched eyebrow, Peripheral pulmonary artery stenosis, Aortic root aneurysm, Sparse lateral... OMIM:617506
Kleefstra Syndrome
Highly arched eyebrow, Tetralogy of Fallot, Upslanted palpebral fissure, Microcephaly, Coarctatio... ORPHA:261494
16Q24.3 Microdeletion Syndrome
Highly arched eyebrow, Biparietal narrowing, Upslanted palpebral fissure, Frontal bossing ORPHA:261250
Monosomy 18Q
Downslanted palpebral fissures, Microcephaly, Epicanthus, Aortic aneurysm, Biparietal narrowing, ... ORPHA:1600
Arterial Tortuosity Syndrome
Short palpebral fissure, Aortic root aneurysm, Aortic dissection, Arterial stenosis, Pulmonary ar... ORPHA:3342
Immunodeficiency 49
Pulmonary artery stenosis, Short palpebral fissure, Upslanted palpebral fissure OMIM:617237
Right Pulmonary Artery, Anomalous Origin Of, Familial
Coarctation of aorta, Patent ductus arteriosus, Anomalous origin of right pulmonary artery from a... OMIM:610338
Intellectual Developmental Disorder, X-Linked, Syndromic 35
Dilation of Virchow-Robin spaces, Pulmonary artery stenosis, Microcephaly, Epicanthus, Dolichocep... OMIM:300998
Mosaic Trisomy 9
Abnormal lung lobation, Prominent occiput, Upslanted palpebral fissure, Microcephaly, Biparietal ... ORPHA:99776
Lathosterolosis
Downslanted palpebral fissures, Microcephaly, Epicanthus, Ptosis, Biparietal narrowing ORPHA:46059
Arterial Tortuosity Syndrome
Short palpebral fissure, Aortic root aneurysm, Downslanted palpebral fissures, Generalized arteri... OMIM:208050
Cutis Laxa, Autosomal Recessive, Type Ia
Peripheral pulmonary artery stenosis, Vascular tortuosity, Emphysema, Microcephaly, Recurrent res... OMIM:219100
Joubert Syndrome With Hepatic Defect
Highly arched eyebrow, Ptosis, Biparietal narrowing, Macrocephaly ORPHA:1454
Progressive Multifocal Leukoencephalopathy
Abnormal astrocyte morphology, Abnormal oligodendroglia morphology ORPHA:217260
Silver-Russell Syndrome Due To A Point Mutation
Small placenta, Oligohydramnios ORPHA:397590
Distal 22Q11.2 Microduplication Syndrome
Downslanted palpebral fissures, Frontal bossing, Upslanted palpebral fissure, Microcephaly, Epica... ORPHA:261337
Alagille Syndrome 2
Tetralogy of Fallot, Peripheral pulmonary artery stenosis OMIM:610205
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Small placenta ORPHA:73272
Orofaciodigital Syndrome Type 6
Epicanthus, Biparietal narrowing, Frontal bossing, Highly arched eyebrow ORPHA:2754
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs
Pulmonary artery stenosis, Bilateral lung agenesis, Congenital pulmonary airway malformation, Pul... OMIM:611812
Oculofaciocardiodental Syndrome
Highly arched eyebrow, Peripheral pulmonary artery stenosis, Ptosis, Patent ductus arteriosus ORPHA:2712
Alagille Syndrome
Brachycephaly, Peripheral pulmonary artery stenosis, Frontal bossing, Downslanted palpebral fissures 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
Highly arched eyebrow, Peripheral pulmonary artery stenosis, Plagiocephaly, Sparse lateral eyebro... OMIM:280000
Ciliary Dyskinesia, Primary, 20
Recurrent pneumonia, Atelectasis, Recurrent sinusitis, Pulmonary artery stenosis, Persistent left... OMIM:615067
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Abnormal aortic arch morphology, Pulmonary hypoplasia, Arteria lusoria, Abnormal descending aorta... ORPHA:99050
Heterotaxy, Visceral, 4, Autosomal
Total anomalous pulmonary venous return, Bilateral superior vena cava, Dextrotransposition of the... OMIM:613751
Noonan Syndrome 2
Sparse eyebrow, Downslanted palpebral fissures, Telecanthus, Epicanthus, Coarctation of aorta, Pt... OMIM:605275
Primary Pulmonary Hypoplasia
Abnormal pulmonary artery morphology, Microcephaly, Epicanthus, Pneumothorax, Recurrent respirato... ORPHA:2257
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation
Polyhydramnios, Large placenta, Umbilical hernia ORPHA:254534
X-Linked Intellectual Disability, Nascimento Type
Peripheral pulmonary artery stenosis, Recurrent respiratory infections, Tetralogy of Fallot, Upsl... ORPHA:163956
Pelizaeus-Merzbacher Disease
Microcephaly, Reduction of oligodendroglia OMIM:312080
Werner Syndrome
Pulmonary artery stenosis, Abnormal cerebral vascular morphology, Neoplasm of the lung, Atheroscl... ORPHA:902
Pulmonary Hypertension, Primary, 1
Arterial intimal fibrosis, Pulmonary artery vasoconstriction, Pulmonary aterial intimal fibrosis,... OMIM:178600
Encephalocraniocutaneous Lipomatosis
Peripheral pulmonary artery stenosis, Limbal dermoid, Eyelid coloboma OMIM:613001
Contractures-Developmental Delay-Pierre Robin Syndrome
Peripheral pulmonary artery stenosis, Downslanted palpebral fissures ORPHA:436003
Van Esch-O'Driscoll Syndrome
Short palpebral fissure, Upslanted palpebral fissure, Pulmonary artery stenosis, Microcephaly, Sh... OMIM:301030
Sporadic Creutzfeldt-Jakob Disease
Recurrent aspiration pneumonia, Astrocytosis, Gliosis ORPHA:204
Smith-Lemli-Opitz Syndrome
Downslanted palpebral fissures, Abnormal lung lobation, Upslanted palpebral fissure, Microcephaly... ORPHA:818
Omodysplasia 1
Axillary pterygium, Popliteal pterygium, Epicanthus, Pulmonary artery stenosis, Blepharophimosis,... OMIM:258315
Scimitar Syndrome
Descending aorta hypoplasia, Pulmonary artery hypoplasia, Bronchogenic cyst, Recurrent respirator... ORPHA:185
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome
Peripheral pulmonary artery stenosis, Aortic root aneurysm, Macrocephaly at birth, Prominent occi... ORPHA:280633
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Highly arched eyebrow, Pulmonary hypoplasia, Tetralogy of Fallot, Double outlet right ventricle, ... OMIM:618316
Autosomal Recessive Cutis Laxa Type 1
Dermatochalasis, Peripheral pulmonary artery stenosis, Recurrent pneumonia, Emphysema, Dilatation... ORPHA:90349
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Interrupted aortic arch, Pulmonary artery dilatation, Abnormal lung lobation, Tetralogy of Fallot... OMIM:265380
Down Syndrome
Tetralogy of Fallot, Upslanted palpebral fissure, Epicanthus, Pulmonary artery stenosis, Brachyce... OMIM:190685
Cardiac Diverticulum
Pulmonary artery hypoplasia, Tetralogy of Fallot, Abnormal aortic morphology, Pulmonary artery st... ORPHA:1686
Acrofacial Dysostosis, Cincinnati Type
Pulmonary artery aneurysm, Downslanted palpebral fissures, Pterygium, Lower eyelid coloboma, Thic... OMIM:616462
Progressive Non-Fluent Aphasia
Astrocytosis ORPHA:100070
14Q24.1Q24.3 Microdeletion Syndrome
Truncus arteriosus, Synophrys, Pulmonary artery atresia, Downslanted palpebral fissures ORPHA:401935
Relapsing Polychondritis
Atelectasis, Large vessel vasculitis, Vascular dilatation, Conjunctivitis, Biparietal narrowing ORPHA:728
Ogden Syndrome
Palpebral thickening, Sparse eyebrow, Peripheral pulmonary artery stenosis, Downslanted palpebral... OMIM:300855
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects
Tetralogy of Fallot, Pulmonary artery atresia OMIM:108900
Waardenburg Syndrome Type 2
Telecanthus, Ptosis, Abnormality of the pulmonary artery ORPHA:895
Recombinant 8 Syndrome
Tetralogy of Fallot, Pulmonary artery stenosis, 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
Downslanted palpebral fissures, Pterygium, Epicanthus, Coarctation of aorta, Pulmonary artery atr... 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
Peripheral pulmonary artery stenosis, Recurrent pneumonia, Atelectasis, Emphysema, Vascular dilat... OMIM:613177
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities
Peripheral pulmonary artery stenosis, Recurrent respiratory infections, Macrocephaly OMIM:619575
Double Outlet Left Ventricle
Pulmonary artery stenosis, Abnormal coronary artery course, Patent ductus arteriosus ORPHA:3427
Smooth Muscle Dysfunction Syndrome
Pulmonary artery dilatation, Dilatation of the cerebral artery, Aortic arch aneurysm, Common caro... OMIM:613834
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7
Astrocytosis OMIM:600795
Trisomy 8P
Recurrent upper respiratory tract infections, Peripheral pulmonary artery stenosis, Abnormal lung... ORPHA:264450
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations
Peripheral pulmonary artery stenosis, Telecanthus, Craniosynostosis OMIM:300707
Fetal Akinesia Deformation Sequence 1
Small placenta, Increased nuchal translucency, Short umbilical cord, Decreased fetal movement, No... OMIM:208150
C Syndrome
Trigonocephaly, Upslanted palpebral fissure, Microcephaly, Epicanthus, Biparietal narrowing ORPHA:1308
Autosomal Dominant Cutis Laxa
Peripheral pulmonary artery stenosis, Bronchiolitis, Emphysema, Dilatation of the ventricular cav... ORPHA:90348
X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome
Dilatation of the ventricular cavity, Pulmonary artery stenosis, Microcephaly, Epicanthus, Narrow... ORPHA:459070
Congenital Heart Defects, Multiple Types, 9
Aortopulmonary collateral arteries, Arteria lusoria, Truncus arteriosus, Transposition of the gre... OMIM:620294
Cutis Laxa, Autosomal Dominant 1
Emphysema, Peripheral pulmonary artery stenosis, Bronchiectasis OMIM:123700
Heart Defects, Congenital, And Other Congenital Anomalies
Interrupted aortic arch, Tetralogy of Fallot, Truncus arteriosus, Microcephaly, Pulmonary artery ... OMIM:600001
Velocardiofacial Syndrome
Interrupted aortic arch, Right aortic arch with mirror image branching, Tetralogy of Fallot, Micr... OMIM:192430
Heterotaxy, Visceral, 8, Autosomal
Aortopulmonary collateral arteries, Congenitally corrected transposition of the great arteries wi... OMIM:617205
Aminopterin/Methotrexate Embryofetopathy
Tetralogy of Fallot, Microcephaly, Pulmonary artery atresia, Epicanthus ORPHA:1908
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Downslanted palpebral fissures, Telecanthus, Microcephaly, Double outlet right ventricle, Macroce... OMIM:301056
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities
Secondary microcephaly, Broad eyebrow, Narrow palpebral fissure, Medial flaring of the eyebrow, P... OMIM:620113
Autosomal Recessive Malignant Osteopetrosis
Pulmonary artery stenosis, Recurrent respiratory infections, Craniosynostosis, Macrocephaly ORPHA:667
Seckel Syndrome 9
Pulmonary artery hypoplasia, Scaphocephaly, Microcephaly, Dolichocephaly, Recurrent respiratory i... OMIM:616777
Familial Infantile Bilateral Striatal Necrosis
Astrocytosis, Basal ganglia gliosis ORPHA:225154
X-Linked Mandibulofacial Dysostosis
Downslanted palpebral fissures, Abnormality of the pulmonary artery, Microcephaly, Epicanthus, Pt... ORPHA:1131
Heterotaxy, Visceral, 7, Autosomal
Interrupted aortic arch, Pulmonary artery hypoplasia, Total anomalous pulmonary venous return, Ri... OMIM:616749
Alagille Syndrome 1
Peripheral pulmonary artery stenosis, Tetralogy of Fallot, Renal artery stenosis, Upslanted palpe... OMIM:118450
Noonan Syndrome
Downslanted palpebral fissures, Pulmonary artery stenosis, Coarctation of aorta, Ptosis, Patent d... ORPHA:648
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Abnormal aortic arch morphology, Short palpebral fissure, Plagiocephaly, Pulmonary artery stenosi... ORPHA:96334
Adams-Oliver Syndrome 1
Tetralogy of Fallot, Microcephaly, Calvarial skull defect, Pulmonary artery stenosis OMIM:100300
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Interrupted aortic arch, Tetralogy of Fallot, Pulmonary artery stenosis, Transposition of the gre... ORPHA:2255
Behavioral Variant Of Frontotemporal Dementia
Astrocytosis ORPHA:275864
Ritscher-Schinzel Syndrome 2
Pulmonary artery hypoplasia, Relative macrocephaly, Upslanted palpebral fissure, Patent ductus ar... OMIM:300963
Neu-Laxova Syndrome 1
Hydranencephaly, Small placenta, Short umbilical cord, Decreased fetal movement, Neonatal death, ... OMIM:256520
Double Outlet Right Ventricle
Tetralogy of Fallot, Truncus arteriosus, Coarctation of aorta, Double outlet right ventricle, Nar... ORPHA:3426
Congenital Total Pulmonary Venous Return Anomaly
Mixed total anomalous pulmonary venous connection, Recurrent respiratory infections, Pulmonary ar... ORPHA:99125
Restrictive Dermopathy
Small placenta, Large placenta, Short umbilical cord, Decreased fetal movement, Premature deliver... ORPHA:1662
Right Atrial Isomerism
Aortopulmonary collateral arteries, Total anomalous pulmonary venous return, Abnormal lung lobati... OMIM:208530
Hardikar Syndrome
Pulmonary artery stenosis, Coarctation of aorta, Partial anomalous pulmonary venous return, Lacri... OMIM:301068
Microphthalmia, Syndromic 9
Right aortic arch with mirror image branching, Agenesis of pulmonary vessels, Tetralogy of Fallot... OMIM:601186
Mowat-Wilson Syndrome
Downslanted palpebral fissures, Pulmonary artery sling, Microcephaly, Broad eyebrow, Ptosis, Pulm... OMIM:235730
Duodenal Atresia
Abnormality of the pulmonary artery ORPHA:1203
Syndromic Diarrhea
Tetralogy of Fallot, Peripheral pulmonary artery stenosis, Patent ductus arteriosus ORPHA:84064
Mosaic Trisomy 1
Downslanted palpebral fissures, Congenital bilateral ptosis, Coarctation of aorta, Macrocephaly, ... ORPHA:1692
Diaphragmatic Hernia 4, With Cardiovascular Defects
Aortopulmonary collateral arteries, Pulmonary artery hypoplasia, Aortic root aneurysm, Downslante... OMIM:620025
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion
Polyhydramnios, Large placenta, Umbilical hernia ORPHA:254528
Inherited Creutzfeldt-Jakob Disease
Stroke-like episode, Astrocytosis ORPHA:282166
Klippel-Trénaunay Syndrome
Abnormality of the pulmonary artery, Venous insufficiency, Microcephaly, Macrocephaly, Patent duc... ORPHA:90308
Fibromuscular Dysplasia, Multifocal
Pulmonary artery aneurysm, Celiac artery dissection, Downslanted palpebral fissures, Tortuous cer... OMIM:619329
Robinow Syndrome, Autosomal Dominant 3
Long eyelashes, Telecanthus, Upslanted palpebral fissure, Epicanthus, Macrocephaly, Pulmonary art... OMIM:616894
Scleromyxedema
Abnormal pulmonary artery morphology, Abnormal coronary artery morphology, Transient ischemic att... ORPHA:167635
Williams Syndrome
Peripheral pulmonary artery stenosis, Abnormal cerebral vascular morphology, Tetralogy of Fallot,... ORPHA:904
Keutel Syndrome
Emphysema, Pulmonary artery hypoplasia, Peripheral pulmonary artery stenosis, Recurrent bronchitis OMIM:245150
Meester-Loeys Syndrome
Pulmonary artery aneurysm, Aortic root aneurysm, Aortic dissection, Downslanted palpebral fissure... OMIM:300989
Congenital Tracheomalacia
Pneumonia, Abnormal pulmonary artery morphology, Recurrent upper respiratory tract infections, Br... ORPHA:95430
Cornelia De Lange Syndrome 6
Highly arched eyebrow, Sparse eyebrow, Downslanted palpebral fissures, Telecanthus, Microcephaly,... OMIM:620568
Heterotaxy, Visceral, 12, Autosomal
Dextrotransposition of the great arteries, Hypoplastic aortic arch, Right aortic arch, Congenital... OMIM:619702
Greenberg Dysplasia
Large placenta, Increased nuchal translucency, Nonimmune hydrops fetalis, Neonatal death, Stillbi... OMIM:215140
Cardiac, Facial, And Digital Anomalies With Developmental Delay
Telecanthus, Microcephaly, Epicanthus, Ptosis, Coarctation of aorta, Blepharophimosis, Double out... OMIM:618164
Kagami-Ogata Syndrome
Polyhydramnios, Large placenta, Premature birth ORPHA:254519
Congenital Syphilis
Large placenta, Hydrops fetalis, Premature birth ORPHA:499009
Hughes-Stovin Syndrome
Vasculitis, Pulmonary artery aneurysm, Arterial stenosis ORPHA:228116
Adams-Oliver Syndrome
Tetralogy of Fallot, Pulmonary artery atresia, Calvarial skull defect, Arteriovenous malformation ORPHA:974
Hyperlysinemia
Pulmonary artery hypoplasia, Recurrent pneumonia, Thin eyebrow, Microcephaly, Craniosynostosis ORPHA:2203
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity
Highly arched eyebrow, Pulmonary hypoplasia, Atelectasis, Long eyelashes, Telecanthus, Retinal ar... OMIM:620371
Kallmann Syndrome-Heart Disease Syndrome
Anomalous origin of left coronary artery from the pulmonary artery, Pulmonary artery hypoplasia, ... ORPHA:2326
Coffin-Siris Syndrome 4
Long eyelashes, Thick eyebrow, Microcephaly, Ptosis, Pulmonary artery atresia, Patent ductus arte... OMIM:614609
Trichohepatoenteric Syndrome 1
Polyhydramnios, Large placenta, Abnormalities of placenta or umbilical cord OMIM:222470
Williams-Beuren Syndrome
Peripheral pulmonary artery stenosis, Coronary artery stenosis, Retinal arteriolar tortuosity, Re... OMIM:194050
Mosaic Trisomy 16
Large placenta, Single umbilical artery, Premature birth ORPHA:1708
Cutis Laxa, Autosomal Recessive, Type Ib
Pulmonary artery aneurysm, Aortic root aneurysm, Pulmonary artery dilatation, Vascular tortuosity... OMIM:614437
Heterotaxy, Visceral, 5, Autosomal
Total anomalous pulmonary venous return, Dextrotransposition of the great arteries, Bilateral tri... OMIM:270100
Pagod Syndrome
Pulmonary artery hypoplasia, Abnormal aortic morphology, Abnormality of the pulmonary artery, Mic... ORPHA:991
Cardiac Valvular Dysplasia 2
Pulmonary artery dilatation, Ascending tubular aorta aneurysm OMIM:620067
Restrictive Dermopathy 1
Premature rupture of membranes, Spontaneous chorioamniotic separation, Hydropic placenta, Oligohy... OMIM:275210
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly
Tetralogy of Fallot, Coarctation of aorta, Patent ductus arteriosus, Absent pulmonary artery OMIM:600460
Stuve-Wiedemann Syndrome 1
Short palpebral fissure, Frontal bossing, Pulmonary arterial medial hypertrophy, Pulmonary hypopl... OMIM:601559
Congenital Tracheal Stenosis
Abnormal lung morphology, Abnormal lung lobation, Anomalous origin of left pulmonary artery from ... ORPHA:141127
Meckel Syndrome, Type 1
Occipital encephalocele, Large placenta, Oligohydramnios, Breech presentation, Single umbilical a... OMIM:249000
Cockayne Syndrome Type 3
Vascular calcification, Aortic root aneurysm, Subdural hemorrhage, Premature coronary artery athe... ORPHA:90324
Cardiomyopathy, Dilated, 1S
Pulmonary artery hypoplasia, Coarctation of aorta OMIM:613426
Marfan Syndrome
Arterial dissection, Spontaneous pneumothorax, Aortic root aneurysm, Aortic dissection, Pulmonary... ORPHA:558
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Recurrent lower respiratory tract infections, Astrocytosis, Atelectasis ORPHA:258
Loeys-Dietz Syndrome 2
Descending thoracic aorta aneurysm, Pulmonary artery aneurysm, Spontaneous pneumothorax, Aortic r... OMIM:610168
Lmna-Related Cardiocutaneous Progeria Syndrome
Aortic root aneurysm, Emphysema, Aortic atherosclerotic lesion, Abnormality of the pulmonary arte... ORPHA:363618
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Microcephaly, Astrocytosis ORPHA:309854
Beckwith-Wiedemann Syndrome
Subchorionic septal cyst, Umbilical hernia, Large placenta, Polyhydramnios, Premature birth ORPHA:116
Marfan Syndrome
Aortic root aneurysm, Aortic dissection, Pulmonary artery dilatation, Downslanted palpebral fissu... OMIM:154700
Telangiectasia, Hereditary Hemorrhagic, Type 4
Arteriovenous fistulas of celiac and mesenteric vessels, Dilatation of mesenteric artery, Transie... OMIM:610655
Viss Syndrome
Iliac artery aneurysm, Aortic root aneurysm, Tortuous cerebral arteries, Carotid artery dilatatio... OMIM:619472
Loeys-Dietz Syndrome 1
Descending thoracic aorta aneurysm, Pulmonary artery aneurysm, Aortic root aneurysm, Downslanted ... 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
Aortic dissection, Pulmonary arteriovenous malformation, Stroke, Hepatic arteriovenous malformati... OMIM:175050
Osteogenesis Imperfecta, Type Vii
Decreased calvarial ossification, Absent pulmonary artery, Hypoplastic pulmonary veins OMIM:610682
Atrial Septal Defect, Ostium Primum Type
Recurrent respiratory infections, Pulmonary artery dilatation ORPHA:99106
Cardiac Valvular Dysplasia 1
Left aortic arch with cervical origin of the right subclavian artery, Pulmonary artery atresia, A... OMIM:212093
Charge Syndrome
Downslanted palpebral fissures, Tetralogy of Fallot, Right aortic arch, Microcephaly, Overriding ... OMIM:214800
Vascular Ehlers-Danlos Syndrome
Arterial dissection, Pulmonary artery aneurysm, Arteriovenous fistulas of celiac and mesenteric v... ORPHA:286
Alzahrani-Kuwahara Syndrome
Pulmonary artery sling, Microcephaly, Frontal bossing, Persistent left superior vena cava OMIM:619268
Congenitally Corrected Transposition Of The Great Arteries
Pulmonary artery atresia, Double aortic arch, Bilateral superior vena cava with bridging vein, Pa... ORPHA:216694
Biliary, Renal, Neurologic, And Skeletal Syndrome
Pulmonary artery dilatation, Right aortic arch, Upslanted palpebral fissure, Recurrent lower resp... OMIM:619534
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Highly arched eyebrow, Secondary microcephaly, Tetralogy of Fallot, Telecanthus, Abnormality of t... ORPHA:261552
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Secondary microcephaly, Tetralogy of Fallot, Telecanthus, Abnormality of the pulmonary artery, Pu... ORPHA:261537
Mowat-Wilson Syndrome
Horizontal eyebrow, Tetralogy of Fallot, Telecanthus, Anterior plagiocephaly, Pulmonary artery sl... 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.

Order Mouse and ES Cells

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

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