Gene Summary

Name:
mitogen-activated protein kinase kinase kinase 7
Synonyms:
transforming growth factor-beta-activated kinase 1,  TAK1,  TGF-beta activated kinase 1,  transforming growth factor beta-activated kinase 1,  Tak1

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
abnormal lens morphology Map3k7tm1b(EUCOMM)Wtsi HET Early adult 3.98×10-06
preweaning lethality, complete penetrance Map3k7tm1b(EUCOMM)Wtsi HOM   Early adult 0.00
embryonic lethality prior to tooth bud stage Map3k7tm1b(EUCOMM)Wtsi HOM   E12.5 0.00
increased circulating alkaline phosphatase level Map3k7tm1b(EUCOMM)Wtsi HET Early adult 2.71×10-05

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
Viewing: all phenotypes

lacZ Expression

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Adrenal gland  Wholemount images heterozygote 100% (2 of 2)
Aorta  Wholemount images heterozygote 100% (2 of 2)
Bone  Wholemount images heterozygote 100% (2 of 2)
Brain  Wholemount images heterozygote 100% (2 of 2)
Brainstem  Wholemount images heterozygote 100% (2 of 2)
Cartilage tissue  Wholemount images heterozygote 100% (2 of 2)
Cerebellum  Wholemount images heterozygote 100% (2 of 2)
Cerebral cortex  Wholemount images heterozygote 100% (2 of 2)
Esophagus  Wholemount images heterozygote 100% (2 of 2)
Eye  Wholemount images heterozygote 100% (2 of 2)
Heart  Wholemount images heterozygote 100% (2 of 2)
Hippocampus  Wholemount images heterozygote 100% (2 of 2)
Hypothalamus  Wholemount images heterozygote 100% (2 of 2)
Kidney  Wholemount images heterozygote 100% (2 of 2)
Large intestine  Wholemount images heterozygote 100% (2 of 2)
Lower urinary tract  Wholemount images heterozygote 100% (2 of 2)
Lung  Wholemount images heterozygote 100% (2 of 2)
Olfactory lobe  Wholemount images heterozygote 100% (2 of 2)
Pancreas  Wholemount images heterozygote 100% (2 of 2)
Parathyroid gland  Wholemount images heterozygote 100% (2 of 2)
Peripheral nervous system  Wholemount images heterozygote 100% (2 of 2)
Pituitary gland  Wholemount images heterozygote 100% (2 of 2)
Prostate gland  Wholemount images heterozygote 50% (1 of 2)
Skin  Wholemount images heterozygote 100% (2 of 2)
Small intestine  Wholemount images heterozygote 100% (2 of 2)
Spinal cord  Wholemount images heterozygote 100% (2 of 2)
Stomach  Wholemount images heterozygote 100% (2 of 2)
Striatum  Wholemount images heterozygote 100% (2 of 2)
Testis  Wholemount images heterozygote 50% (1 of 2)
Thyroid gland  Wholemount images heterozygote 0.0% (0 of 2)
Trachea  Wholemount images heterozygote 100% (2 of 2)
Vascular system  Wholemount images heterozygote 100% (2 of 2)
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Gall bladder N/A heterozygote 0.0% (0 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Lymph node N/A heterozygote 0.0% (0 of 2)
Mammary gland N/A heterozygote 0.0% (0 of 2)
Oral epithelium N/A heterozygote 0.0% (0 of 2)
Ovary N/A heterozygote 0.0% (0 of 2)
Oviduct N/A heterozygote 0.0% (0 of 2)
Peyer's patch N/A heterozygote 0.0% (0 of 2)
Skeletal muscle N/A heterozygote 0.0% (0 of 2)
Spleen N/A heterozygote 0.0% (0 of 2)
Thymus N/A heterozygote 0.0% (0 of 2)
Uterus N/A heterozygote 0.0% (0 of 2)
White adipose tissue N/A heterozygote 0.0% (0 of 2)

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Brain N/A heterozygote 50% (1 of 2)
Ear N/A heterozygote 50% (1 of 2)
Embryo N/A heterozygote 100% (2 of 2)
Eye N/A heterozygote 50% (1 of 2)
Footplate N/A heterozygote 50% (1 of 2)
Forebrain N/A heterozygote 50% (1 of 2)
Forelimb N/A heterozygote 100% (2 of 2)
Handplate N/A heterozygote 50% (1 of 2)
Head N/A heterozygote 100% (2 of 2)
Heart N/A heterozygote 50% (1 of 2)
Hindbrain N/A heterozygote 50% (1 of 2)
Hindlimb N/A heterozygote 100% (2 of 2)
Liver N/A heterozygote 50% (1 of 2)
Lung N/A heterozygote 50% (1 of 2)
Mandibular process N/A heterozygote 50% (1 of 2)
Maxillary process N/A heterozygote 50% (1 of 2)
Midbrain N/A heterozygote 50% (1 of 2)
Oral cavity N/A heterozygote 50% (1 of 2)
Skin N/A heterozygote 50% (1 of 2)
Tail somite N/A heterozygote 50% (1 of 2)
Tail N/A heterozygote 50% (1 of 2)

Background staining occurs in wild type mice and embryos at an incidental rate.

Anatomy Background staining in controls (WT)
adrenal gland 0.0%
aorta 0.0%
bone 0.0%
brain 0.0%
brainstem 0.0%
brown adipose tissue 0.0%
cartilage tissue 0.0%
cerebellum 0.0%
cerebral cortex 0.0%
esophagus 0.0%
eye 0.0%
gall bladder 0.0%
heart 0.0%
hippocampus 0.0%
hypothalamus 0.0%
kidney 0.0%
large intestine 0.0%
liver 0.0%
lower urinary tract 0.0%
lung 0.0%
lymph node 0.0%
mammary gland 0.0%
olfactory lobe 0.0%
oral epithelium 0.0%
ovary 0.0%
oviduct 0.0%
pancreas 0.0%
parathyroid gland 0.0%
peripheral nervous system 0.0%
peyers patch 0.0%
pituitary gland 0.0%
prostate gland 0.0%
skeletal muscle 0.0%
skin 0.0%
small intestine 0.0%
spinal cord 0.0%
spleen 0.0%
stomach 0.0%
striatum 0.0%
testis 0.0%
thymus 0.0%
thyroid gland 0.0%
trachea 0.0%
uterus 0.0%
vascular system 0.0%
white adipose tissue 0.0%

Background staining occurs in wild type mice and embryos at an incidental rate.

Background staining occurs in wild type embryos at a measurable rate.

Anatomy Background staining in controls(WT)
brain 0.0%
ear 0.0%
embryo 0.0%
eye 0.0%
footplate 0.0%
forebrain 0.0%
forelimb 0.0%
handplate 0.0%
head 0.0%
heart 0.0%
hindbrain Ambiguous
hindlimb 0.0%
liver Ambiguous
lung 0.0%
mandibular process 0.0%
maxillary process Ambiguous
midbrain 0.0%
oral cavity 0.0%
skin Ambiguous
tail Ambiguous
tail somite group Ambiguous

Associated Images

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

Echo

M-Mode Images

20 Images

Embryo LacZ

LacZ images wholemount

4 Images

Adult LacZ

LacZ Images Wholemount

19 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

Auditory Brain Stem Response

Click-evoked + 6 to 30kHz tone waveforms (pdf format)

4 Images

Human diseases caused by Map3k7 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 Map3k7 by orthology or direct annotation.

The table below shows human diseases predicted to be associated to Map3k7 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Ectopia Lentis 2, Isolated, Autosomal Recessive
Ectopia lentis OMIM:225100
Cramps, Familial Adolescent
Elevated circulating creatine kinase concentration OMIM:218050
Muscle Cramps, Familial
Elevated circulating creatine kinase concentration OMIM:158400
Isolated Asymptomatic Elevation Of Creatine Phosphokinase
Elevated circulating creatine kinase concentration ORPHA:206599
Hereditary Hyperferritinemia-Cataract Syndrome
Cataract ORPHA:163
Cataract 36
Cataract OMIM:613887
Cataract 29
Cataract OMIM:115800
Cataract 35
Cataract OMIM:609376
Cataract 4, Multiple Types
Developmental cataract OMIM:115700
Cataract 13 With Adult I Phenotype
Developmental cataract OMIM:116700
Cataract 37
Developmental cataract OMIM:614422
Cataract 45
Developmental cataract OMIM:616851
Cataract 38
Developmental cataract OMIM:614691
Pentosuria
Abnormal circulating carbohydrate concentration, Abnormal circulating enzyme concentration ORPHA:2843
Cataract And Congenital Ichthyosis
Cataract OMIM:212400
Neural Tube Defects, Folate-Sensitive
Spinal dysraphism OMIM:601634
Left Ventricular Noncompaction 1
Congestive heart failure, Patent ductus arteriosus, Palpitations, Atrial fibrillation, Noncompact... OMIM:604169
Spina Bifida-Hypospadias Syndrome
Spinal dysraphism, Spina bifida ORPHA:3176
Genetic Hyperferritinemia Without Iron Overload
Cataract, Increased circulating ferritin concentration ORPHA:254704
Cardiomyopathy, Dilated, 1R
Congestive heart failure, Restrictive cardiomyopathy, Cardiomyocyte hypertrophy, Ventricular arrh... OMIM:613424
Corneal Dystrophy, Groenouw Type I
Cataract, Nodular corneal dystrophy, Granular corneal dystrophy, Punctate corneal dystrophy OMIM:121900
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Neural tube defect OMIM:615041
Cataract 12, Multiple Types
Progressive cataract, Developmental cataract OMIM:611597
Anencephaly 1
Anencephaly, Spina bifida OMIM:206500
Cataract 42
Cataract, Developmental cataract OMIM:115900
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Congestive heart failure, Endocardial fibrosis, Left bundle branch block, Ventricular arrhythmia,... OMIM:601493
Pupillary Membrane, Persistence Of
Developmental cataract, Persistent pupillary membrane, Megalocornea OMIM:178900
Trichomegaly
Cataract OMIM:190330
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Endocardial fibrosis, Atrial fibrillation, Supraventricular tachycardia, Cardiac arrest, Hypertro... OMIM:612158
Cardiomyopathy, Dilated, 1Gg
Congestive heart failure, Reduced left ventricular ejection fraction, Cardiogenic shock, Dilated ... OMIM:613642
Galactosemia Ii
Cataract, Hypergalactosemia OMIM:230200
Left Ventricular Noncompaction 10
Congestive heart failure, Pulmonary arterial hypertension, Syncope, Increased left ventricular en... OMIM:615396
Galactosemia Iv
Cataract, Hypergalactosemia OMIM:618881
Hypoalphalipoproteinemia, Primary, 2
Corneal arcus, Decreased HDL cholesterol concentration, Cataract OMIM:618463
Distal 7Q11.23 Microdeletion Syndrome
Microcephaly, Atrial septal defect, Porencephalic cyst, Patent ductus arteriosus ORPHA:254351
Left Ventricular Noncompaction 8
Congestive heart failure, Left ventricular systolic dysfunction, Arrhythmia, Dilated cardiomyopat... OMIM:615373
Left Ventricular Noncompaction 7
Left ventricular noncompaction cardiomyopathy, Left ventricular noncompaction OMIM:615092
Glaucoma 3, Primary Congenital, D
Primary congenital glaucoma, Ectopia lentis, Corneal opacity OMIM:613086
Mitochondrial Complex Iv Deficiency, Nuclear Type 13
Aortic regurgitation, Reduced left ventricular ejection fraction, Hypertrophic cardiomyopathy, Tr... OMIM:616501
Cataract-Microcornea Syndrome
Microcornea, Corneal dystrophy, Corneal opacity, Cataract, Iris coloboma ORPHA:1377
Atrial Standstill
Bradycardia, Cardiomyopathy, Abnormal heart morphology, Mobitz I atrioventricular block, Ventricu... ORPHA:1344
Myelopathy, Htlv-1-Associated
Myelopathy OMIM:159580
Cayler Cardiofacial Syndrome
Ventricular septal defect, Tetralogy of Fallot, Patent ductus arteriosus OMIM:125520
Combined Oxidative Phosphorylation Deficiency 20
Hypoplasia of the corpus callosum, Hypertrophic cardiomyopathy, Microcephaly, Cerebellar hypoplas... OMIM:615917
Hemolytic Anemia Due To Glutathione Reductase Deficiency
Cataract, Hyperbilirubinemia OMIM:618660
Combined Oxidative Phosphorylation Deficiency 31
Hypertrophic cardiomyopathy, Microcephaly, Increased variability in muscle fiber diameter, Increa... OMIM:617228
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract
Cataract, Microcornea, Aniridia OMIM:106230
Hyperferritinemia With Or Without Cataract
Decreased transferrin saturation, Abnormal transferrin saturation, Anterior subcapsular cataract,... OMIM:600886
Microphthalmia/Coloboma 3
Cataract, Iris coloboma OMIM:610092
Pulmonary Atresia-Intact Ventricular Septum Syndrome
Pulmonary artery atresia, Abnormal tricuspid valve morphology, Patent ductus arteriosus ORPHA:1208
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
Ragged-red muscle fibers, Hypertrophic cardiomyopathy, Abnormal mitochondria in muscle tissue, Pr... OMIM:252011
Anterior Segment Dysgenesis 8
Microphakia, Iris transillumination defect, Iridodonesis, Corneal stromal edema, Corneal opacity,... OMIM:617319
Exfoliation Syndrome
Mydriasis, Phakodonesis, Iris hypoperfusion, Anisocoria, Pigment deposition in the trabecular mes... OMIM:177650
Cataract 10, Multiple Types
Developmental cataract, Posterior Y-sutural cataract, Zonular cataract, Nuclear cataract OMIM:600881
Congenital Heart Block
Congestive heart failure, Hydrops fetalis, Bradycardia, Prolonged QTc interval, Gallop rhythm, Pa... ORPHA:60041
Cataract 14, Multiple Types
Zonular cataract OMIM:601885
Cataract 47
Cataract, Microcornea OMIM:612018
Coenzyme Q10 Deficiency, Primary, 7
Bradycardia, Hypertrophic cardiomyopathy, Patent ductus arteriosus, Intrauterine growth retardati... OMIM:616276
Cataract 1, Multiple Types
Posterior subcapsular cataract, Nuclear cataract, Microcornea, Pulverulent cataract OMIM:116200
Fixed Subaortic Stenosis
Pulmonic stenosis, Abnormal heart morphology, Diastolic heart murmur, Cardiomegaly, Left ventricu... ORPHA:3092
Cardiomyopathy, Dilated, 1D
Congestive heart failure, Prolonged QT interval, Reduced left ventricular ejection fraction, Inco... OMIM:601494
Sick Sinus Syndrome 2
Paroxysmal atrial fibrillation, Sick sinus syndrome, Aortic regurgitation, Atrial fibrillation, P... OMIM:163800
Coronary Arterial Fistula
Aortic valve stenosis, Abnormal heart morphology, Cardiomegaly, Bicuspid aortic valve, Right vent... ORPHA:2041
Megabladder, Congenital
Left ventricular noncompaction cardiomyopathy, Patent ductus arteriosus, Bicuspid aortic valve, A... OMIM:618719
Cardiomyopathy, Dilated, 1S
Congestive heart failure, Perimembranous ventricular septal defect, Reduced left ventricular ejec... OMIM:613426
Frontal Encephalocele
Hydrocephalus, Encephalocele, Spina bifida ORPHA:1931
Mesoaxial Hexadactyly And Cardiac Malformation
Torticollis, Pulmonic stenosis, Patent ductus arteriosus, Atrial septal defect, Ventricular septa... OMIM:249670
Naxos Disease
Congestive heart failure, Right ventricular cardiomyopathy, Paroxysmal ventricular tachycardia, P... OMIM:601214
Megalocornea
Corneal arcus, Iris transillumination defect, Iridodonesis, Astigmatism, Mosaic corneal dystrophy... OMIM:309300
Congenitally Uncorrected Transposition Of The Great Arteries
Abnormal QRS complex, Abnormal aortic arch morphology, Abnormality of blood circulation, Abnormal... ORPHA:860
Klippel-Trénaunay Syndrome
Congestive heart failure, Gastrointestinal hemorrhage, Macrocephaly, Hydrops fetalis, Abnormal tr... ORPHA:90308
Aniridia-Intellectual Disability Syndrome
Cataract, Ectopia lentis, Aniridia ORPHA:1068
Adams-Oliver Syndrome 4
Umbilical hernia, Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus OMIM:615297
Cataract 3, Multiple Types
Cerulean cataract, Developmental cataract, Nuclear pulverulent cataract, Sutural cataract OMIM:601547
Atrial Septal Defect 2
Atrioventricular canal defect, Dextrocardia, Aortic regurgitation, Pulmonic stenosis, Patent duct... OMIM:607941
Long Qt Syndrome 15
2:1 atrioventricular block, Polymorphic ventricular tachycardia, Ventricular bigeminy, Bradycardi... OMIM:616249
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Secondary microcephaly, Left ventricular systolic dysfunction, Patent foramen ovale, Tricuspid re... OMIM:619167
Hemihyperplasia, Isolated
Myelomeningocele OMIM:235000
Congenital Myopathy 11
Polyhydramnios, Patent ductus arteriosus, Patent foramen ovale, Weakness of facial musculature, A... OMIM:619967
Ophthalmoplegia, External, And Myopia
Spina bifida OMIM:311000
Neuronal Intestinal Pseudoobstruction
Abnormal cardiac septum morphology, Natal tooth, Congenital diaphragmatic hernia, Patent ductus a... ORPHA:99811
Aniridia 2
Cataract, Lens subluxation, Aniridia, Iris coloboma OMIM:617141
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Polyhydramnios, Abnormal cortical gyration, Patent foramen ovale, Spinal muscular atrophy, Increa... OMIM:616867
Neural Tube Defects, Susceptibility To
Hydrocephalus, Myelomeningocele, Anencephaly, Spina bifida occulta OMIM:182940
Proximal Myotonic Myopathy
Cataract ORPHA:606
Acalvaria
Hydrocephalus, Holoprosencephaly, Spina bifida ORPHA:945
Partial Atrioventricular Septal Defect
Coronary sinus enlargement, Aortic valve stenosis, Heart murmur, Bicuspid aortic valve, Abnormal ... ORPHA:1330
Cataract 5, Multiple Types
Anterior polar cataract, Zonular cataract, Lamellar cataract, Nuclear cataract, Pulverulent cataract OMIM:116800
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Abnormal cardiac septum morphology, Coarctation of aorta, Neonatal death, Patent ductus arteriosus OMIM:601612
Ectopia Lentis Et Pupillae
Iris transillumination defect, Persistent pupillary membrane, Ectopia lentis, Ectopia pupillae, C... OMIM:225200
Familial Aortic Dissection
Mucoid extracellular matrix accumulation, Aortic regurgitation, Descending thoracic aorta aneurys... ORPHA:229
Grange Syndrome
Aortic regurgitation, Hypertension, Arterial stenosis, Patent ductus arteriosus, Ventricular sept... ORPHA:79094
Noonan Syndrome 8
Polyhydramnios, Patent ductus arteriosus, Webbed neck, Relative macrocephaly, Pleural effusion, H... OMIM:615355
Anterior Segment Dysgenesis 7
Ocular anterior segment dysgenesis, Microcornea, Corneal opacity, Sclerocornea, Cataract, Buphtha... OMIM:269400
Long Qt Syndrome 16
Perimembranous ventricular septal defect, Bradycardia, Prolonged QTc interval, T-wave alternans, ... OMIM:618782
Peters Anomaly
Developmental glaucoma, Central opacification of the cornea, Subcapsular cataract, Thinning of De... ORPHA:708
Neurooculocardiogenitourinary Syndrome
Secondary microcephaly, Redundant neck skin, Patent foramen ovale, Tricuspid regurgitation, Paten... OMIM:618652
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Anencephaly, Spina bifida ORPHA:2476
Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome
Bicuspid aortic valve, Pseudocoarctation of the aorta, Patent ductus arteriosus ORPHA:228190
Ventricular Septal Defect 3
Pulmonary artery stenosis, Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus OMIM:614432
Cataract 39, Multiple Types
Lamellar cataract, Developmental cataract, Anterior polar cataract OMIM:615188
Lymphedema, Cardiac Septal Defects, And Characteristic Facies
Hydrops fetalis, Atrial flutter, Lymphedema, Vascular ring, Patent ductus arteriosus, Overriding ... OMIM:601927
Cardiac Diverticulum
Premature ventricular contraction, Aortic valve stenosis, Abnormal heart morphology, Arrhythmia, ... ORPHA:1686
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature
Sinus bradycardia, Peripheral arterial stenosis, Patent ductus arteriosus, Ventricular septal def... OMIM:126320
Cataract 23, Multiple Types
Lamellar cataract, Microcornea, Nuclear cataract OMIM:610425
Cantu Syndrome
Bicuspid aortic valve, Macrocephaly, Lymphedema, Umbilical hernia, Pericardial effusion, Congenit... OMIM:239850
Spinal Muscular Atrophy With Congenital Bone Fractures 1
Congestive heart failure, Patent foramen ovale, Cardiomyopathy, Spinal muscular atrophy, Increase... OMIM:616866
Aortic Arch Interruption
Blood pressure substantially higher in arms than legs, Aortopulmonary window, Abnormal ascending ... ORPHA:2299
Ebstein Malformation Of The Tricuspid Valve
Abnormal endocardium morphology, Congestive heart failure, Atrial fibrillation, Right bundle bran... ORPHA:1880
Anterior Segment Dysgenesis 1
Ocular anterior segment dysgenesis, Microcornea, Posterior polar cataract, Opacification of the c... OMIM:107250
Craniorachischisis
Sirenomelia, Anencephaly, Myelomeningocele, Spinal dysraphism, Cervical spina bifida ORPHA:63260
Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies
Bicuspid aortic valve, Pseudocoarctation of the aorta, Patent ductus arteriosus OMIM:604381
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Dysplastic corpus callosum, Increased head circumference, Macrocephaly, Patent foramen ovale, Rel... OMIM:300967
Cataract 18
Nuclear cataract OMIM:610019
Cataract, Age-Related Nuclear
Nuclear cataract OMIM:601371
Cataract 41
Nuclear cataract OMIM:116400
Congenitally Corrected Transposition Of The Great Arteries
Mesocardia, Bradycardia, Pulmonic stenosis, Discordant atrioventricular connection, Abnormal hear... ORPHA:216694
Aorta Coarctation
Congestive heart failure, Perimembranous ventricular septal defect, Cardiomegaly, Hypoplastic aor... ORPHA:1457
Periventricular Nodular Heterotopia
Abnormal heart valve morphology, Aortic aneurysm, Aortic regurgitation, Patent ductus arteriosus ORPHA:98892
Aortic Aneurysm, Familial Thoracic 4
Aortic regurgitation, Coronary artery atherosclerosis, Ascending tubular aorta aneurysm, Aortic d... OMIM:132900
Nephronophthisis 16
Situs inversus totalis, Hypertrophic cardiomyopathy, Pulmonic stenosis, Aortic valve stenosis, Pa... OMIM:615382
Ciliary Dyskinesia, Primary, 40
Situs inversus totalis, Atrioventricular canal defect, Patent ductus arteriosus, Right aortic arc... OMIM:618300
Subependymal Nodular Heterotopia
Occipital encephalocele, Nasofrontal encephalocele, Myelomeningocele, Meningocele ORPHA:101030
Analbuminemia
Edema, Oligohydramnios, Hypotension, Patent ductus arteriosus OMIM:616000
Cataract 31, Multiple Types
Anterior subcapsular cataract, Posterior subcapsular cataract, Nuclear cataract OMIM:605387
Pseudo-Torch Syndrome 2
Bradycardia, Cerebral calcification, Polymicrogyria, Pleural effusion, Ascites, Microcephaly, Sec... OMIM:617397
Amoebic Keratitis
Abnormal anterior chamber morphology, Abnormal corneal epithelium morphology, Corneal ulceration,... ORPHA:67043
Cataract 30, Multiple Types
Pulverulent cataract, Diffuse nuclear cataract, Posterior polar cataract OMIM:116300
Anterior Segment Dysgenesis 2
Aniridia, Microcornea, Corneal opacity, Congenital aphakia, Anterior segment of eye aplasia, Scle... OMIM:610256
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases
Spina bifida OMIM:211960
Timothy Syndrome
Prolonged QT interval, Bradycardia, Patent foramen ovale, Pulmonary arterial hypertension, Tetral... OMIM:601005
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Congenital diaphragmatic hernia, Atrioventricular canal defect, Abnormal aortic valve morphology,... ORPHA:1120
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Hypertension, Ascites, Pulmonary arterial hypertension, Nonimmune hydrops fetalis, Patent ductus ... OMIM:617021
Absence Of The Pulmonary Artery
Abnormal heart morphology, Cardiomegaly, Abnormal cardiac septum morphology, Patent foramen ovale... ORPHA:980
Cataract 20, Multiple Types
Lamellar cataract, Cortical cataract, Nuclear cataract, Sutural cataract OMIM:116100
Hypoplastic Left Heart Syndrome
Patent ductus arteriosus, Hypoplastic aortic arch, Mitral stenosis, Mitral atresia, Atrial septal... ORPHA:2248
Pericardial And Diaphragmatic Defect
Congenital diaphragmatic hernia, Aplasia of the left hemidiaphragm, Mitral stenosis, Abnormal hea... ORPHA:2847
Schisis Association
Anencephaly, Encephalocele, Spina bifida ORPHA:63862
Autosomal Dominant Coarctation Of Aorta
Abnormal aortic arch morphology, Aortic arch aneurysm, Patent ductus arteriosus, Ventricular sept... ORPHA:1455
Kyrle Disease
Posterior subcapsular cataract OMIM:149500
Cataract 43
Posterior subcapsular cataract OMIM:616279
8P23.1 Microdeletion Syndrome
Congenital diaphragmatic hernia, Transposition of the great arteries, Atrioventricular canal defe... ORPHA:251071
Scimitar Syndrome
Mitral atresia, Left-to-right shunt, Hypoplasia of the diaphragm, Abnormal heart morphology, Tric... ORPHA:185
Cataract 15, Multiple Types
Lamellar cataract, Cortical cataract, Nuclear cataract OMIM:615274
Cataract 33, Multiple Types
Lamellar cataract, Cortical cataract, Nuclear cataract OMIM:611391
Nevus Comedonicus Syndrome
Spina bifida occulta, Spina bifida ORPHA:64754
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Congestive heart failure, Anomalous origin of left pulmonary artery from ascending aorta, Transpo... ORPHA:99050
Chiari Malformation Type Ii
Hydrocephalus, Cervical myelopathy, Myelomeningocele, Spina bifida OMIM:207950
Noonan Syndrome 10
Patent ductus arteriosus, Webbed neck, Relative macrocephaly, Pleural effusion, Hypertrophic card... OMIM:616564
Caudal Duplication
Myelomeningocele, Spina bifida ORPHA:1756
Laubry-Pezzi Syndrome
Elevated pulmonary artery pressure, Congestive heart failure, Perimembranous ventricular septal d... ORPHA:99094
Fryns Microphthalmia Syndrome
Neural tube defect OMIM:600776
Wildervanck Syndrome
Meningocele ORPHA:3456
Humero-Radial Synostosis
Meningocele ORPHA:3265
Cataract 32, Multiple Types
Anterior polar cataract OMIM:115650
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Ischemic stroke, Mucoid extracellular matrix accumulation, Cardiomegaly, Descending thoracic aort... ORPHA:91387
Thoraco-Abdominal Enteric Duplication
Meningocele ORPHA:1759
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Hypoplasia of the corpus callosum, Redundant neck skin, Pulmonary arterial hypertension, Microcep... ORPHA:2519
Chromosome 1P36 Deletion Syndrome, Proximal
Atrial septal defect, Partial anomalous pulmonary venous return, Wolff-Parkinson-White syndrome, ... OMIM:619343
Muscle-Eye-Brain Disease
Hydrocephalus, Holoprosencephaly, Meningocele ORPHA:588
Meckel Syndrome, Type 7
Situs inversus totalis, Dandy-Walker malformation, Portal hypertension, Aortic valve stenosis, Ri... OMIM:267010
Truncus Arteriosus
Pulmonic stenosis, Abnormal heart morphology, Cardiomegaly, Intrauterine growth retardation, Tran... ORPHA:3384
Acropectorovertebral Dysplasia
Spina bifida ORPHA:957
Meckel Syndrome, Type 2
Anencephaly, Encephalocele, Meningocele OMIM:603194
Meckel Syndrome, Type 4
Hydrocephalus, Anencephaly, Encephalocele, Meningocele OMIM:611134
Aminopterin/Methotrexate Embryofetopathy
Anencephaly, Encephalocele, Meningocele, Hydrocephalus, Holoprosencephaly, Spinal dysraphism ORPHA:1908
Eisenmenger Syndrome
Aortopulmonary window, Ascites, Left-to-right shunt, Abnormal heart morphology, Heart murmur, Rig... ORPHA:97214
Isotretinoin-Like Syndrome
Abnormal aortic arch morphology, Abnormal cardiac ventricle morphology, Intrauterine growth retar... ORPHA:2306
Heart Defect-Tongue Hamartoma-Polysyndactyly Syndrome
Subvalvular aortic stenosis, Patent ductus arteriosus ORPHA:1338
Lymphatic Malformation 13
Patent foramen ovale, Lymphedema, Ascites, Pulmonary arterial hypertension, Neonatal death, Nonim... OMIM:620244
Lymphedema-Distichiasis Syndrome
Webbed neck, Predominantly lower limb lymphedema, Chylothorax, Lymphedema, Arrhythmia, Nonimmune ... OMIM:153400
Meacham Syndrome
Stillbirth, Transposition of the great arteries, Partial anomalous pulmonary venous return, Dextr... OMIM:608978
Lymphatic Malformation 7
Pulmonary edema, Facial edema, Chylothorax, Lymphedema, Pleural effusion, Ascites, Increased nuch... OMIM:617300
Double Outlet Left Ventricle
Pulmonary valve atresia, Double outlet left ventricle, Tricuspid atresia, Bicuspid pulmonary valv... ORPHA:3427
Ciliary Dyskinesia, Primary, 52
Situs inversus totalis, Transposition of the great arteries, Patent foramen ovale, Ventricular se... OMIM:620570
Heterotaxy, Visceral, 1, X-Linked
Myelomeningocele, Pulmonic stenosis, Cardiomegaly, Right atrial isomerism, Transposition of the g... OMIM:306955
Heterotaxy, Visceral, 12, Autosomal
Pulmonic stenosis, Discordant atrioventricular connection, Patent foramen ovale, Common atrium, P... OMIM:619702
Isolated Posterior Meningocele
Neural tube defect, Meningocele, Hydrocephalus, Lipomyelomeningocele, Occipital meningocele ORPHA:268810
Heart Defects, Congenital, And Other Congenital Anomalies
Congenital diaphragmatic hernia, Perimembranous ventricular septal defect, Transposition of the g... OMIM:600001
Smooth Muscle Dysfunction Syndrome
Periventricular white matter hyperintensities, Dysgyria, Hypertension, Aortic arch aneurysm, Pulm... OMIM:613834
Heterotaxy, Visceral, 5, Autosomal
Cerebral atrophy, Right atrial isomerism, Atrioventricular canal defect, Partial anomalous pulmon... OMIM:270100
Intellectual Developmental Disorder, Autosomal Dominant 72
Spina bifida OMIM:620439
Congenital Alveolar Capillary Dysplasia
Pulmonary valve atresia, Atrioventricular canal defect, Pulmonary arterial hypertension, Aortic v... ORPHA:210122
Isolated Klippel-Feil Syndrome
Spina bifida ORPHA:2345
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Nonimmune hydrops fetalis, Dysplastic tricuspid valve, Bicuspid aortic valve, Pulmonary insuffici... OMIM:265380
Thoracoabdominal Syndrome
Congenital diaphragmatic hernia, Ectopia cordis, Transposition of the great arteries, Anencephaly... OMIM:313850
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Hypoplasia of right ventricle, Congenital diaphragmatic hernia, Transposition of the great arteri... ORPHA:2255
Sirenomelia
Sirenomelia, Spina bifida ORPHA:3169
Cardiac Valvular Dysplasia 1
Left atrial enlargement, Pulmonic stenosis, Mitral valve prolapse, Edema, Hypoplasia of right ven... OMIM:212093
Right Pulmonary Artery, Anomalous Origin Of, Familial
Patent foramen ovale, Anomalous origin of right pulmonary artery from ascending aorta, Coarctatio... OMIM:610338
Anophthalmia Plus Syndrome
Spina bifida ORPHA:1104
Cardiac-Urogenital Syndrome
Congenital diaphragmatic hernia, Mesocardia, Partial anomalous pulmonary venous return, Patent du... OMIM:618280
Meacham Syndrome
Congenital diaphragmatic hernia, Situs inversus totalis, Transposition of the great arteries, Ven... ORPHA:3097
Camptodactyly Syndrome, Guadalajara Type 1
Spina bifida ORPHA:1327
Czeizel-Losonci Syndrome
Hydrocephalus, Spina bifida occulta, Myelomeningocele, Spina bifida ORPHA:2437
Sacral Defect With Anterior Meningocele
Myeloschisis, Meningocele, Hydrocephalus, Dermal sinus tract, Myelomeningocele OMIM:600145
Homozygous Familial Hypercholesterolemia
Calcification of the aorta, Tendon xanthomatosis, Premature arteriosclerosis, Abnormal left ventr... ORPHA:391665
Waardenburg Syndrome Type 1
Spina bifida, Meningocele ORPHA:894
Triploidy
Hydrocephalus, Holoprosencephaly, Meningocele ORPHA:3376
Cleft Lip/Palate-Deafness-Sacral Lipoma Syndrome
Meningocele ORPHA:2003
Fountain Syndrome
Spina bifida occulta, Spina bifida ORPHA:3219
Iniencephaly
Anencephaly, Encephalocele, Hydrocephalus, Myelomeningocele, Spina bifida, Holoprosencephaly, Spi... ORPHA:63259
Joubert Syndrome 14
Hydrocephalus, Encephalocele, Meningocele OMIM:614424
Neurocutaneous Melanocytosis
Meningocele ORPHA:2481
Autosomal Recessive Spondylocostal Dysostosis
Meningocele, Spina bifida occulta, Umbilical hernia ORPHA:2311
Cerebrocostomandibular Syndrome
Hydranencephaly, Spina bifida, Myelomeningocele, Meningocele ORPHA:1393
Amish Lethal Microcephaly
Spina bifida ORPHA:99742
Congenital Total Pulmonary Venous Return Anomaly
Cardiomegaly, Mixed total anomalous pulmonary venous connection, Transposition of the great arter... ORPHA:99125
Fliedner-Zweier Syndrome
Meningocele OMIM:620511
Pelvis-Shoulder Dysplasia
Hydrocephalus, Spina bifida, Hydranencephaly ORPHA:2839
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome
Meningocele ORPHA:2031
Acromelic Frontonasal Dysplasia
Encephalocele, Meningocele ORPHA:1827
Lumbar Syndrome
Myelomeningocele, Spina bifida ORPHA:83628
Lateral Meningocele Syndrome
Meningocele, Umbilical hernia ORPHA:2789
Lateral Meningocele Syndrome
Hydrocephalus, Meningocele, Umbilical hernia OMIM:130720
Chromosome 17P13.1 Deletion Syndrome
Hydrocephalus, Spina bifida, Umbilical hernia OMIM:613776
Trisomy 20P
Spina bifida, Umbilical hernia ORPHA:261318
Frontometaphyseal Dysplasia 2
Webbed neck, Patent foramen ovale, Camptodactyly, Pulmonic stenosis, Hip contracture, Decreased m... OMIM:617137
Neu-Laxova Syndrome 2
Spina bifida OMIM:616038
Vacterl With Hydrocephalus
Hydrocephalus, Aqueductal stenosis, Spina bifida ORPHA:3412
Cloacal Exstrophy
Myelomeningocele, Spina bifida ORPHA:93929
Waardenburg Syndrome, Type 1
Myelomeningocele, Spina bifida OMIM:193500
Limb Body Wall Complex
Short umbilical cord, Anencephaly, Encephalocele, Spina bifida occulta, Hydrocephalus, Myelomenin... ORPHA:2369
Phakomatosis Pigmentokeratotica
Spina bifida ORPHA:2874
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Occipital encephalocele, Meningocele ORPHA:397715
Trisomy 18
Holoprosencephaly, Anencephaly, Spina bifida ORPHA:3380
Mosaic Trisomy 9
Spina bifida ORPHA:99776
Curry-Jones Syndrome
Occipital meningocele, Lipomyelomeningocele OMIM:601707
Pagod Syndrome
Spina bifida, Encephalocele, Meningocele ORPHA:991
Nail-Patella Syndrome
Spina bifida OMIM:161200
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Hydrocephalus, Occipital meningocele, Anencephaly OMIM:616546
Neu-Laxova Syndrome
Spina bifida ORPHA:2671
Lathosterolosis
Meningocele ORPHA:46059
Focal Dermal Hypoplasia
Spina bifida, Umbilical hernia ORPHA:2092
Fibular Hemimelia
Spina bifida ORPHA:93323
Hallermann-Streiff Syndrome
Spina bifida OMIM:234100
Basal Cell Nevus Syndrome 1
Hydrocephalus, Spina bifida OMIM:109400
Holoprosencephaly 7
Semilobar holoprosencephaly, Alobar holoprosencephaly, Hydrocephalus, Lobar holoprosencephaly, Oc... OMIM:610828
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia
Meningocele ORPHA:1010
Phocomelia, Schinzel Type
Meningocele ORPHA:2879
Neurofibromatosis, Type I
Hydrocephalus, Aqueductal stenosis, Spina bifida OMIM:162200
Orofaciodigital Syndrome Vi
Occipital meningocele OMIM:277170
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Spina bifida ORPHA:508498
Neu-Laxova Syndrome 1
Stillbirth, Short umbilical cord, Small placenta, Hydranencephaly, Spina bifida, Neonatal death OMIM:256520
22Q11.2 Deletion Syndrome
Hydrocephalus, Umbilical hernia, Meningocele, Spina bifida ORPHA:567
Campomelic Dysplasia
Hydrocephalus, Spinal dysraphism, Spina bifida OMIM:114290
Koolen-De Vries Syndrome Due To A Point Mutation
Hydrocephalus, Spina bifida ORPHA:363965
17Q21.31 Microdeletion Syndrome
Hydrocephalus, Spina bifida ORPHA:363958
Fanconi Anemia
Hydrocephalus, Umbilical hernia, Spina bifida ORPHA:84
Jacobsen Syndrome
Spina bifida ORPHA:2308
Aicardi Syndrome
Spina bifida OMIM:304050
Thrombocytopenia-Absent Radius Syndrome
Spina bifida OMIM:274000
Knobloch Syndrome 1
Occipital encephalocele, Occipital meningocele, Spina bifida occulta OMIM:267750
Rubinstein-Taybi Syndrome 1
Spina bifida occulta, Spina bifida OMIM:180849
Cutis Laxa, Autosomal Recessive, Type Ib
Neonatal death, Spina bifida OMIM:614437
Arima Syndrome
Occipital meningocele OMIM:243910
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum
Spina bifida OMIM:619480
Vater/Vacterl Association
Occipital encephalocele, Patent urachus, Spina bifida OMIM:192350
Holoprosencephaly 9
Hydrocephalus, Occipital meningocele, Holoprosencephaly, Alobar holoprosencephaly OMIM:610829
Marfan Syndrome
Meningocele ORPHA:558
Otopalatodigital Syndrome, Type Ii
Hydrocephalus, Stillbirth, Spina bifida, Umbilical hernia OMIM:304120
Femoral-Facial Syndrome
Encephalocele, Spina bifida OMIM:134780
Exstrophy-Epispadias Complex
Hydrocephalus, Spina bifida ORPHA:322
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Occipital meningocele OMIM:276820
Frontometaphyseal Dysplasia
Spina bifida occulta, Hypoplasia of the musculature, Elbow flexion contracture, Shoulder muscle h... ORPHA:1826
Cardiospondylocarpofacial Syndrome
Failure of eruption of permanent teeth, Mitral regurgitation, Mitral valve prolapse ORPHA:3238
Cardiospondylocarpofacial Syndrome
Congenital diaphragmatic hernia, Muscular ventricular septal defect, Hypoplastic aortic arch, Pat... OMIM:157800

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 Map3k7

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 Map3k7.

No publications found that use IMPC mice or data for Map3k7.

Order Mouse and ES Cells

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

MGI Allele Allele Type Produced
Map3k7tm1b(EUCOMM)Wtsi Reporter-tagged deletion allele (with selection cassette) Mice
Map3k7tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Map3k7tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Map3k7tm33755(L1L2_gt0) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors

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