Gene Summary

Name:
TEA domain family member 1
Synonyms:
TEF-1,  TEAD-1,  mTEF-1,  B230114H05Rik,  Tcf13,  2610024B07Rik,  Gtrgeo5

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 eye anterior chamber depth Tead1tm1b(KOMP)Wtsi HET Early adult 4.03×10-05
decreased cornea thickness Tead1tm1b(KOMP)Wtsi HET Early adult 4.93×10-08
abnormal tooth morphology Tead1tm1b(KOMP)Wtsi HET Early adult 5.86×10-05
abnormal embryo turning Tead1tm1b(KOMP)Wtsi HOM E9.5 0.00
impaired glucose tolerance Tead1tm1b(KOMP)Wtsi HET Early adult 2.98×10-05
preweaning lethality, complete penetrance Tead1tm1b(KOMP)Wtsi HOM   Early adult 0.00
abnormal retina morphology Tead1tm1a(KOMP)Wtsi HET Early adult 1.03×10-07
decreased prepulse inhibition Tead1tm1b(KOMP)Wtsi HET Early adult 1.12×10-07
abnormal embryo size Tead1tm1b(KOMP)Wtsi HOM E9.5 0.00
increased total body fat amount Tead1tm1b(KOMP)Wtsi HET Early adult 3.87×10-06
decreased cornea thickness Tead1tm1a(KOMP)Wtsi HET Early adult 4.31×10-05
embryonic lethality prior to tooth bud stage Tead1tm1b(KOMP)Wtsi HOM   E12.5 0.00

Download data as:  TSV  XLS

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

lacZ Expression

No Adult expression data was found for this gene.

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

Anatomy Images Zygosity Mutant Expr
Heart atrium N/A heterozygote 100% (3 of 3)
Axial skeleton N/A heterozygote 100% (3 of 3)
Brain N/A heterozygote 100% (3 of 3)
Central nervous system ganglion N/A heterozygote 100% (3 of 3)
Cranium N/A heterozygote 100% (3 of 3)
Dorsal root ganglion N/A heterozygote 100% (3 of 3)
Ear N/A heterozygote 100% (3 of 3)
Embryo N/A heterozygote 100% (3 of 3)
Outer ear N/A heterozygote 100% (3 of 3)
Eye N/A heterozygote 100% (3 of 3)
Femur pre-cartilage condensation N/A heterozygote 100% (3 of 3)
Footplate N/A heterozygote 100% (3 of 3)
Forearm N/A heterozygote 100% (3 of 3)
Forebrain N/A heterozygote 100% (3 of 3)
Forelimb N/A heterozygote 100% (3 of 3)
Fronto-nasal process N/A heterozygote 100% (3 of 3)
Gut N/A heterozygote 100% (3 of 3)
Handplate N/A heterozygote 100% (3 of 3)
Head mesenchyme N/A heterozygote 100% (3 of 3)
Head N/A heterozygote 100% (3 of 3)
Heart ventricle N/A heterozygote 100% (3 of 3)
Heart N/A heterozygote 100% (3 of 3)
Hindbrain N/A heterozygote 100% (3 of 3)
Hindlimb N/A heterozygote 100% (3 of 3)
Humerus pre-cartilage condensation N/A heterozygote 100% (3 of 3)
Inner ear N/A heterozygote 100% (3 of 3)
Intestine N/A heterozygote 100% (3 of 3)
Liver N/A heterozygote 100% (3 of 3)
Lower leg N/A heterozygote 100% (3 of 3)
Lung N/A heterozygote 100% (3 of 3)
Mandibular process N/A heterozygote 100% (3 of 3)
Maxillary process N/A heterozygote 100% (3 of 3)
Mesonephros of female N/A heterozygote 100% (3 of 3)
Mesonephros of male N/A heterozygote 100% (3 of 3)
Metanephros N/A heterozygote 100% (3 of 3)
Midbrain N/A heterozygote 100% (3 of 3)
Nasal septum N/A heterozygote 100% (3 of 3)
Nose N/A heterozygote 100% (3 of 3)
Notochord N/A heterozygote 100% (3 of 3)
Oral cavity N/A heterozygote 100% (3 of 3)
Outflow tract N/A heterozygote 100% (3 of 3)
Pancreas N/A heterozygote 100% (3 of 3)
N/A heterozygote 100% (3 of 3)
Pharynx N/A heterozygote 100% (3 of 3)
Radius-ulna pre-cartilage condensation N/A heterozygote 100% (3 of 3)
Rib pre-cartilage condensation N/A heterozygote 100% (3 of 3)
Skeleton N/A heterozygote 100% (3 of 3)
Skin N/A heterozygote 100% (3 of 3)
Spinal cord N/A heterozygote 100% (3 of 3)
Stomach N/A heterozygote 100% (3 of 3)
Tail somite N/A heterozygote 100% (3 of 3)
Tail N/A heterozygote 100% (3 of 3)
Thoracic vertebral cartilage condensation N/A heterozygote 100% (3 of 3)
Tongue N/A heterozygote 100% (3 of 3)
Trachea N/A heterozygote 100% (3 of 3)
Trunk mesenchyme N/A heterozygote 100% (3 of 3)
Umbilical artery embryonic part N/A heterozygote 100% (3 of 3)
Umbilical vein embryonic part N/A heterozygote 100% (3 of 3)
Upper arm N/A heterozygote 100% (3 of 3)
Upper leg N/A heterozygote 100% (3 of 3)
Urinary system N/A heterozygote 100% (3 of 3)
Vibrissa N/A heterozygote 100% (3 of 3)

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

Anatomy Background staining in controls (WT)

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)
atrium Ambiguous
axial skeleton Ambiguous
brain 0.0%
central nervous system ganglion Ambiguous
cranium Ambiguous
dorsal root ganglion Ambiguous
ear 0.0%
embryo 0.0%
external ear Ambiguous
eye 0.0%
femur pre-cartilage condensation Ambiguous
footplate 0.0%
forearm Ambiguous
forebrain 0.0%
forelimb 0.0%
fronto-nasal process Ambiguous
gut Ambiguous
handplate 0.0%
head 0.0%
head mesenchyme Ambiguous
heart 0.0%
heart ventricle Ambiguous
hindbrain Ambiguous
hindlimb 0.0%
humerus pre-cartilage condensation Ambiguous
inner ear Ambiguous
intestine Ambiguous
liver Ambiguous
lower leg Ambiguous
lung 0.0%
mandibular process 0.0%
maxillary process Ambiguous
mesonephros of female Ambiguous
mesonephros of male Ambiguous
metanephros Ambiguous
midbrain 0.0%
nasal septum Ambiguous
nose Ambiguous
notochord Ambiguous
oral cavity 0.0%
outflow tract Ambiguous
pancreas Ambiguous
pericardium Ambiguous
pharynx Ambiguous
radius-ulna pre cartilage condensation Ambiguous
rib pre-cartilage condensation Ambiguous
skeleton Ambiguous
skin Ambiguous
spinal cord Ambiguous
stomach Ambiguous
tail Ambiguous
tail somite group Ambiguous
thoracic vertebral cartilage condensation Ambiguous
tongue Ambiguous
trachea Ambiguous
trunk mesenchyme Ambiguous
umbilical artery embryonic part Ambiguous
umbilical vein embryonic part Ambiguous
upper arm Ambiguous
upper leg Ambiguous
urinary system Ambiguous
vibrissa 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.

X-ray

XRay Images Forepaw

22 Images

X-ray

XRay Images Whole Body Dorso Ventral

22 Images

Embryo LacZ

LacZ images wholemount

4 Images

Eye Morphology

VIP of right eye

29 Images

X-ray

XRay Images Skull Lateral Orientation

22 Images

Eye Morphology

VIP of left eye

29 Images

X-ray

XRay Images Whole Body Lateral Orientation

22 Images

Eye Morphology

VIP of left fundus

29 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

22 Images

Eye Morphology

VIP of right fundus

29 Images

Histopathology

Images

1 Images

Human diseases caused by Tead1 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 Tead1 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Sveinsson Chorioretinal Atrophy
Astigmatism, Peripapillary chorioretinal atrophy OMIM:108985

The table below shows human diseases predicted to be associated to Tead1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Retinal Dysplasia, Primary
Falciform retinal fold, Retinal dysplasia OMIM:312550
Left Ventricular Noncompaction 7
Left ventricular noncompaction cardiomyopathy, Left ventricular noncompaction OMIM:615092
Keratoconus 6
Keratoconus OMIM:614623
Keratoconus 5
Keratoconus OMIM:614622
Keratoconus 8
Keratoconus OMIM:614628
Keratoconus 7
Keratoconus OMIM:614629
Keratoconus 9
Keratoconus, Decreased corneal thickness OMIM:617928
Keratoconus 1
Keratoconus, Astigmatism OMIM:148300
Megalocornea
Corneal arcus, Iris transillumination defect, Iridodonesis, Astigmatism, Mosaic corneal dystrophy... OMIM:309300
Leber Congenital Amaurosis 4
Keratoconus, Cone/cone-rod dystrophy, Attenuation of retinal blood vessels, Macular atrophy, Opti... OMIM:604393
Cardiomyopathy, Dilated, 1R
Restrictive cardiomyopathy, Cardiomyocyte hypertrophy, Myofiber disarray, Left ventricular hypert... OMIM:613424
Corneal Endothelial Dystrophy
Abnormal Descemet membrane morphology, Increased corneal thickness, Corneal dystrophy, Opacificat... OMIM:217700
Stargardt Disease 1
Macular degeneration, Retinitis pigmentosa inversa, Bull's eye maculopathy OMIM:248200
Retinal Dystrophy, Reticular Pigmentary, Of Posterior Pole
Retinal dystrophy, Drusen, Reticular pigmentary degeneration OMIM:267800
Cornea Plana 2, Autosomal Recessive
Corneal arcus, Decreased corneal thickness, Corneal opacity, Sclerocornea, Flat cornea OMIM:217300
Leber Congenital Amaurosis 8
Macular coloboma, Keratoconus, Chorioretinal atrophy, Nummular pigmentation of the fundus, Chorio... OMIM:613835
Corneal Dystrophy, Congenital Stromal
Band-shaped corneal dystrophy, Corneal dystrophy, Increased corneal thickness, Corneal erosion OMIM:610048
Leber Congenital Amaurosis 2
Keratoconus, Pigmentary retinopathy, Fundus atrophy, Attenuation of retinal blood vessels, Catara... OMIM:204100
Leber Congenital Amaurosis 6
Cataract, Keratoconus, Attenuation of retinal blood vessels OMIM:613826
Atrial Standstill
Bradycardia, Cardiomyopathy, Abnormal heart morphology, Mobitz I atrioventricular block, Ventricu... ORPHA:1344
Macular Corneal Dystrophy
Recurrent corneal erosions, Decreased corneal thickness, Punctate opacification of the cornea, Hy... ORPHA:98969
His Bundle Tachycardia
Neoplasm of the heart, Cardiomyopathy, Junctional ectopic tachycardia, Arrhythmia ORPHA:3283
Macular Degeneration, Age-Related, 13
Macular degeneration, Macular scar, Drusen, Choroidal neovascularization OMIM:615439
Long Qt Syndrome 15
2:1 atrioventricular block, Polymorphic ventricular tachycardia, Ventricular bigeminy, Bradycardi... OMIM:616249
Brittle Cornea Syndrome 2
Inguinal hernia, Keratoglobus, Keratoconus, Decreased corneal thickness, Megalocornea, Sclerocorn... OMIM:614170
Retinitis Pigmentosa 36
Bone spicule pigmentation of the retina, Macular degeneration, Attenuation of retinal blood vesse... OMIM:610599
Chronic Atrial And Intestinal Dysrhythmia
Left atrial enlargement, Sick sinus syndrome, Atrial flutter, Bradycardia, Atrial fibrillation, P... OMIM:616201
Leber Congenital Amaurosis 9
Optic atrophy, Macular coloboma, Macular hypopigmentation, Bone spicule pigmentation of the retin... OMIM:608553
Atrial Fibrillation, Familial, 10
Left atrial enlargement, Paroxysmal atrial fibrillation, Atrial flutter, Bradycardia, Permanent a... OMIM:614022
Vitreoretinal Degeneration, Snowflake Type
Retinal detachment, Retinal dots, Corneal guttata, Optically empty vitreous, Cataract, Snowflake ... OMIM:193230
Regional Odontodysplasia
Yellow-brown discoloration of the teeth, Eruption failure, Abnormality of primary teeth, Short de... ORPHA:83450
Leber Congenital Amaurosis 7
Cataract, Keratoconus OMIM:613829
Iris Pigment Layer, Cleavage Of
Cataract, Peripheral retinal detachment OMIM:147610
Exudative Vitreoretinopathy 7
Retinal detachment, Exudative vitreoretinopathy, Retinal degeneration, Retinal hole, Retinal fold OMIM:617572
Macular Dystrophy, Corneal
Recurrent corneal erosions, Macular dystrophy, Corneal dystrophy, Punctate opacification of the c... OMIM:217800
Corneal Dystrophy, Posterior Polymorphous, 2
Corneal dystrophy, Corneal opacity OMIM:609140
Coenzyme Q10 Deficiency, Primary, 7
Bradycardia, Hypertrophic cardiomyopathy, Cerebellar hypoplasia, Ventricular septal defect, Hypop... OMIM:616276
Brittle Cornea Syndrome 1
Keratoglobus, Keratoconus, Decreased corneal thickness, Atypical scarring of skin, Dentinogenesis... OMIM:229200
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Endocardial fibrosis, Hypertrophic cardiomyopathy, Cardiomyocyte hypertrophy, Myofiber disarray, ... OMIM:612158
Long Qt Syndrome 16
Perimembranous ventricular septal defect, Bradycardia, Prolonged QTc interval, T-wave alternans, ... OMIM:618782
Macular Degeneration, Age-Related, 11
Macular degeneration OMIM:611953
Macular Degeneration, Age-Related, 4
Macular degeneration OMIM:610698
Macular Degeneration, Age-Related, 6
Macular degeneration OMIM:613757
Macular Degeneration, Age-Related, 7
Macular degeneration OMIM:610149
Macular Degeneration, Age-Related, 15
Macular degeneration OMIM:615591
Macular Degeneration, Age-Related, 2
Macular degeneration OMIM:153800
Atrial Septal Defect 6
Atrial fibrillation, Atrial septal defect, Bradycardia OMIM:613087
Leber Congenital Amaurosis 1
Keratoconus, Optic disc drusen, Fundus atrophy, Attenuation of retinal blood vessels, Cataract, P... OMIM:204000
Corneal Dystrophy, Endothelial, X-Linked
Band keratopathy, Corneal dystrophy, Corneal opacity OMIM:300779
Corneal Dystrophy, Posterior Polymorphous, 3
Keratoconus, Corneal dystrophy, Ectopia pupillae, Corneal guttata OMIM:609141
Sinoatrial Node Dysfunction And Deafness
Abnormal QRS complex, Syncope, Increased heart rate variability, Bradycardia OMIM:614896
Exudative Vitreoretinopathy 3
Retinal exudate, Retinal detachment, Exudative vitreoretinopathy, Retinal hole, Retinal fold OMIM:605750
Cardiomyopathy, Dilated, 1Gg
Dilated cardiomyopathy, Left ventricular noncompaction OMIM:613642
Cataract 50 With Or Without Glaucoma
Cataract, Persistent pupillary membrane, Retinal detachment OMIM:620253
Edict Syndrome
Astigmatism, Anterior polar cataract, Keratoconus, Microcornea, Hypoplasia of the iris OMIM:614303
Left Ventricular Noncompaction 10
Dilated cardiomyopathy, Left ventricular noncompaction OMIM:615396
Exudative Vitreoretinopathy 5
Retinal exudate, Shallow anterior chamber, Tractional retinal detachment, Exudative vitreoretinop... OMIM:613310
Myopathy, Myofibrillar, 1
Bradycardia, Restrictive cardiomyopathy, Facial palsy, EMG: myopathic abnormalities, Hypertrophic... OMIM:601419
Sudden Cardiac Failure, Infantile
Myocarditis, Congestive heart failure, Bradycardia, Hypertrophic cardiomyopathy, Myocardial fibro... OMIM:617222
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Endocardial fibrosis, Left ventricular noncompaction, Dilated cardiomyopathy, Left ventricular hy... OMIM:601493
Sick Sinus Syndrome 2
Paroxysmal atrial fibrillation, Sick sinus syndrome, Aortic regurgitation, Atrial fibrillation, P... OMIM:163800
Atrial Fibrillation, Familial, 18
Paroxysmal atrial fibrillation, Palpitations, Bradycardia, Permanent atrial fibrillation, First d... OMIM:617280
Cataract 21, Multiple Types
Retinal detachment, Microcornea, Corneal opacity, Cortical pulverulent cataract, Peters anomaly, ... OMIM:610202
Retinoschisis 1, X-Linked, Juvenile
Retinal detachment, Retinal atrophy, Retinoschisis, Peripheral cystoid retinal degeneration, Reti... OMIM:312700
Cardiomyopathy, Familial Restrictive, 1
Left atrial enlargement, Restrictive cardiomyopathy, Left ventricular hypertrophy, Ventriculomega... OMIM:115210
Central Cloudy Dystrophy Of Francois
Corneal dystrophy, Central corneal dystrophy OMIM:217600
Schnyder Corneal Dystrophy
Corneal dystrophy, Crystalline corneal dystrophy OMIM:121800
Congenital Hereditary Endothelial Dystrophy Type Ii
Corneal stromal edema, Corneal opacity, Abnormal Descemet membrane morphology, Increased corneal ... ORPHA:293603
Leber Congenital Amaurosis
Cataract, Keratoconus, Abnormality of retinal pigmentation, Abnormal optic disc morphology ORPHA:65
Coats Disease
Abnormal anterior chamber morphology, Retinal detachment, Abnormal macular morphology, Abnormal r... ORPHA:190
Cardiomyopathy, Familial Hypertrophic, 6
Congestive heart failure, Wolff-Parkinson-White syndrome, Left bundle branch block, Atrial fibril... OMIM:600858
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Congestive heart failure, Atrial flutter, Left anterior fascicular block, Atrial fibrillation, Pr... OMIM:616117
Amelogenesis Imperfecta
Fragile teeth, Widely spaced teeth, Abnormal permanent molar morphology, Yellow-brown discolorati... ORPHA:88661
Late-Onset Retinal Degeneration
Sub-RPE deposits, Choroidal neovascularization, Chorioretinal degeneration, Retinopathy, Retinal ... OMIM:605670
X-Linked Retinal Dysplasia
Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Retinal dysplasia ORPHA:1852
Dentin Dysplasia, Type I
Oligodontia, Short dental root, Microdontia, Enamel hypoplasia, Periapical bone loss, Pulp oblite... OMIM:125400
Cardiomyopathy, Dilated, 1D
Congestive heart failure, Prolonged QT interval, Reduced left ventricular ejection fraction, Inco... OMIM:601494
Retinal Degeneration And Epilepsy
Retinal degeneration OMIM:267740
Cardiomyopathy, Dilated, 2G
Left atrial enlargement, Severely reduced left ventricular ejection fraction, Aortic regurgitatio... OMIM:619897
Stickler Syndrome Type 2
Abnormal vitreous humor morphology, Retinal detachment, Corneal opacity, Retinopathy, Cataract ORPHA:90654
Birdshot Chorioretinopathy
Abnormal chorioretinal morphology, Retinal thinning, Choroidal neovascularization, Vitritis, Cyst... ORPHA:179
Sorsby Pseudoinflammatory Fundus Dystrophy
Macular dystrophy, Abnormal fundus autofluorescence imaging, Choroidal neovascularization, Chorio... ORPHA:59181
Left Ventricular Noncompaction 8
Dilated cardiomyopathy, Left ventricular noncompaction OMIM:615373
Myopia, High, With Cataract And Vitreoretinal Degeneration
Retinal detachment, Peripheral vitreoretinal degeneration, Vitreous floaters, Lattice retinal deg... OMIM:614292
Retinopathy, Pericentral Pigmentary, Dominant
Bone spicule pigmentation of the retina, Retinal dystrophy, Retinal atrophy, Retinopathy, Attenua... OMIM:180210
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia
Sick sinus syndrome, Patent foramen ovale, Bradycardia OMIM:617182
Cardiomyopathy, Dilated, 1A
Congestive heart failure, Atrial flutter, Atrial fibrillation, Pericardial effusion, Sinus bradyc... OMIM:115200
Retinitis Pigmentosa 13
Bone spicule pigmentation of the retina, Asteroid hyalosis, Cystoid macular edema, Optic disc dru... OMIM:600059
Retinal Dystrophy And Obesity
Astigmatism, Retinal dystrophy, Retinal detachment, Retinal dots, Attenuation of retinal blood ve... OMIM:616188
Myopia 28, Autosomal Recessive
Cataract, Retinal detachment OMIM:619781
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2
Syncope, Ventricular tachycardia, Polymorphic ventricular tachycardia, Bradycardia OMIM:611938
Congenital Heart Block
Congestive heart failure, Bradycardia, Prolonged QTc interval, Gallop rhythm, Patent foramen oval... ORPHA:60041
Familial Drusen
Granular macular appearance, Macular dystrophy, Peripapillary chorioretinal atrophy, Choroidal ne... ORPHA:75376
Left Ventricular Noncompaction 1
Congestive heart failure, Palpitations, Atrial fibrillation, Noncompaction cardiomyopathy, Ventri... OMIM:604169
Macular Degeneration, Age-Related, 1
Geographic atrophy, Choroidal neovascularization, Macular degeneration, Foveal hypopigmentation, ... OMIM:603075
Congenitally Corrected Transposition Of The Great Arteries
Mesocardia, Bradycardia, Pulmonic stenosis, Discordant atrioventricular connection, Abnormal hear... ORPHA:216694
Amelogenesis Imperfecta, Hypomaturation Type, Iia3
Amelogenesis imperfecta, Hypomature dental enamel, Enamel hypomineralization OMIM:613211
Cardiomyopathy, Familial Hypertrophic, 12
Paroxysmal atrial fibrillation, Ventricular septal hypertrophy, Reduced left ventricular endsysto... OMIM:612124
Congenital Heart Defects, Multiple Types, 3
Tachycardia, Atrial fibrillation, Right bundle branch block, Abnormal heart morphology, Tetralogy... OMIM:614954
Ring Dermoid Of Cornea
Abnormal cornea morphology, Abnormal corneal limbus morphology, Corneal astigmatism, Abnormal con... OMIM:180550
Epilepsy, Idiopathic Generalized, Susceptibility To, 18
Bradycardia OMIM:619521
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Congestive heart failure, Ventricular hypertrophy, Bradycardia, Left ventricular hypertrophy OMIM:619048
Coenzyme Q10 Deficiency, Primary, 5
Cerebellar atrophy, Bradycardia, Decreased level of coenzyme Q10 in skeletal muscle, Left ventric... OMIM:614654
Keratoconus Posticus Circumscriptus
Keratoconus, Cleft palate, Central posterior corneal opacity, Cleft upper lip OMIM:244600
Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive
Bradycardia, Nemaline bodies, Increased variability in muscle fiber diameter, Neonatal death, Wea... OMIM:620265
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy
Paroxysmal atrial fibrillation, Sick sinus syndrome, Ventricular couplet, Syncope, Effort-induced... OMIM:604772
Incessant Infant Ventricular Tachycardia
Congestive heart failure, Wolff-Parkinson-White syndrome, Cardiac rhabdomyoma, Histiocytoid cardi... ORPHA:45453
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Ventricular septal defect, Hypertrophic cardiomyopathy, Bradycardia OMIM:616277
Atrial Standstill 2
Bradycardia, Atrial arrhythmia, Cardiomyopathy, Dilatation of the ventricular cavity, Absent P wa... OMIM:615745
Atrial Fibrillation, Familial, 15
Left atrial enlargement, Atrial flutter, Atrial fibrillation, Supraventricular tachycardia, Sudde... OMIM:615770
Heart-Hand Syndrome, Slovenian Type
Abnormal atrioventricular conduction, Supraventricular arrhythmia, Arrhythmia, Dilated cardiomyop... ORPHA:168796
Tako-Tsubo Cardiomyopathy
Prolonged QT interval, Bradycardia, Hypertension, T-wave inversion, Low-output congestive heart f... ORPHA:66529
Dandy-Walker Syndrome
Hydrocephalus, Partial absence of cerebellar vermis, Dilated fourth ventricle, Agenesis of cerebe... OMIM:220200
Amelogenesis Imperfecta, Type Ij
Amelogenesis imperfecta, Widely spaced teeth, Increased overbite, Abnormal dentin morphology, Car... OMIM:617297
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Dilated cardiomyopathy, Flexion contracture, Hypertrophic cardiomyopathy, Bradycardia OMIM:618815
Corneal Dystrophy, Fuchs Endothelial, 1
Corneal degeneration, Corneal stromal edema, Corneal dystrophy, Descemet Membrane Folds, Corneal ... OMIM:136800
Otodental Syndrome
Long philtrum, Taurodontia, Agenesis of premolar, Abnormality of canine, Delayed eruption of teet... ORPHA:2791
Multifocal Atrial Tachycardia
Atrial flutter, Tachycardia, Atrial fibrillation, Effort-induced polymorphic ventricular tachycar... ORPHA:3282
Atrial Standstill 1
Paroxysmal atrial fibrillation, Premature atrial contractions, Ventricular escape rhythm, First d... OMIM:108770
Neovascular Glaucoma
Abnormal anterior chamber morphology, Retinal detachment, Retinal vascular proliferation, Corneal... ORPHA:94058
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant
Muscular dystrophy, Bradycardia, Atrial fibrillation, Increased variability in muscle fiber diame... OMIM:614302
Oligodontia
Short dental root, Microdontia, Eclabion, Agenesis of maxillary lateral incisor, Taurodontia, Age... ORPHA:99798
Amelogenesis Imperfecta, Hypomaturation Type, Iia1
Amelogenesis imperfecta, Yellow-brown discoloration of the teeth, Anterior open-bite malocclusion... OMIM:204700
Dermatitis, Atopic
Cataract, Keratoconus, Conjunctivitis OMIM:603165
Familial Short Qt Syndrome
Bradycardia, Atrial fibrillation, Syncope, Ventricular fibrillation, Ventricular arrhythmia, Shor... ORPHA:51083
Brittle Cornea Syndrome
Corneal erosion, Keratoglobus, Corneal dystrophy, Decreased corneal thickness, Corneal scarring, ... ORPHA:90354
Sveinsson Chorioretinal Atrophy
Astigmatism, Peripapillary chorioretinal atrophy OMIM:108985
Cardiomyopathy, Familial Hypertrophic, 8
Left atrial enlargement, Congestive heart failure, Endocardial fibrosis, Reduced left ventricular... OMIM:608751
Retinitis Pigmentosa 50
Retinal detachment, Attenuation of retinal blood vessels, Retinal flecks, Rod-cone dystrophy, Opt... OMIM:613194
Vernal Keratoconjunctivitis
Scarring, Corneal neovascularization, Corneal ulceration, Keratoconus, Keratoconjunctivitis, Punc... ORPHA:70476
Insulinomatosis And Diabetes Mellitus
Developmental glaucoma, Impaired glucose tolerance, Developmental cataract, Type II diabetes mell... OMIM:147630
Reese Retinal Dysplasia
Remnants of the hyaloid vascular system, Retinal dysplasia OMIM:266400
Mitochondrial Complex I Deficiency, Nuclear Type 13
Cardiac arrest, Hypertrophic cardiomyopathy, Bradycardia OMIM:618235
Retinitis Pigmentosa 70
Macular degeneration, Attenuation of retinal blood vessels, Retinal degeneration, Rod-cone dystro... OMIM:615922
Timothy Syndrome
Prolonged QT interval, Bradycardia, Patent foramen ovale, Pulmonary arterial hypertension, Tetral... OMIM:601005
Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome
Hypoplasia of the tooth germ, Decreased corneal thickness, Micrognathia, Bifid uvula, Contracture... ORPHA:293967
Lodder-Merla Syndrome, Type 1, With Impaired Intellectual Development And Cardiac Arrhythmia
Sick sinus syndrome, Bradycardia OMIM:617173
Amelogenesis Imperfecta, Type Ia
Amelogenesis imperfecta, Enamel hypoplasia, Generalized microdontia, Dental enamel pits, Taurodontia OMIM:104530
Cardiomyopathy, Familial Hypertrophic, 16
Left bundle branch block, Reduced left ventricular ejection fraction, Palpitations, Atrial fibril... OMIM:613838
Retinitis Pigmentosa 32
Bone spicule pigmentation of the retina, Photoreceptor layer loss on macular OCT, Pigmentary reti... OMIM:609913
Cardiomyopathy, Familial Hypertrophic, 10
Systolic anterior motion of the mitral valve, Ventricular septal hypertrophy, Left bundle branch ... OMIM:608758
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5
Presyncope, Congestive heart failure, Right ventricular cardiomyopathy, Palpitations, Premature v... OMIM:604400
Atrial Septal Defect-Atrioventricular Conduction Defects Syndrome
Arrhythmia, Bundle branch block, Abnormal cardiac septum morphology ORPHA:1479
Cardiomyopathy, Familial Hypertrophic, 27
Congestive heart failure, Ventricular septal hypertrophy, Prolonged QT interval, Concentric hyper... OMIM:618052
Cardiomyopathy, Familial Hypertrophic, 1
Congestive heart failure, Arrhythmia, Subvalvular aortic stenosis, Asymmetric septal hypertrophy OMIM:192600
Amelogenesis Imperfecta, Hypomaturation Type, Iia6
Amelogenesis imperfecta, Anterior open-bite malocclusion, Enamel hypomineralization OMIM:617217
Exudative Vitreoretinopathy 2, X-Linked
Retinal detachment, Retinal fold, Shallow anterior chamber, Intraretinal exudate, Peripheral vitr... OMIM:305390
Cardiomyopathy, Dilated, 1E
Atrial flutter, Left bundle branch block, Reduced left ventricular ejection fraction, Atrial fibr... OMIM:601154
Glycogen Storage Disease Of Heart, Lethal Congenital
Congestive heart failure, Myopathy, Bradycardia, Hydrocephalus, ST segment elevation, Cardiomyopa... OMIM:261740
Aminoacylase 1 Deficiency
Cerebellar atrophy, Bradycardia OMIM:609924
Progressive Familial Heart Block, Type Ib
Left anterior fascicular block, Prolonged QT interval, Bradycardia, Syncope, Right bundle branch ... OMIM:604559
Arthrogryposis, Distal, Type 5
Astigmatism, Keratoglobus, Keratoconus, Abnormality of retinal pigmentation, Retinal fold OMIM:108145
Dentinogenesis Imperfecta, Shields Type Iii
Anterior open-bite malocclusion, Periapical bone loss, Dentinogenesis imperfecta, Dental enamel p... OMIM:125500
Dentin Dysplasia, Type Ii
Dentinogenesis imperfecta limited to primary teeth, Pulp calcification, Thistle tube shaped pulp OMIM:125420
Lipoyltransferase 1 Deficiency
Ventriculomegaly, Cerebellar atrophy, Pulmonary arterial hypertension, Bradycardia OMIM:616299
Rutherfurd Syndrome
Opacification of the corneal stroma, Corneal dystrophy, Failure of eruption of permanent teeth, D... OMIM:180900
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome
Sick sinus syndrome, Bradycardia, Patent foramen ovale, Ventricular escape rhythm, Arrhythmia, Pr... ORPHA:542306
Ectopia Lentis Et Pupillae
Iris transillumination defect, Retinal detachment, Persistent pupillary membrane, Ectopia lentis,... OMIM:225200
Cardiomyopathy, Familial Hypertrophic, 14
Congestive heart failure, Left ventricular outflow tract obstruction, Right bundle branch block, ... OMIM:613251
Cardiomyopathy, Familial Hypertrophic, 11
Congestive heart failure, Atrial flutter, Left anterior fascicular block, Left bundle branch bloc... OMIM:612098
Paroxysmal Extreme Pain Disorder
Tachycardia, Bradycardia OMIM:167400
Dentinogenesis Imperfecta
Fragile teeth, Grayish enamel, Yellow-brown discoloration of the teeth, Selective tooth agenesis,... ORPHA:49042
Carnitine-Acylcarnitine Translocase Deficiency
Bradycardia, Ventricular hypertrophy, Cardiac arrest, Cardiomyopathy, Premature ventricular contr... OMIM:212138
Amelogenesis Imperfecta, Type Iiia
Amelogenesis imperfecta, Dental malocclusion, Anterior open-bite malocclusion OMIM:130900
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency
Ventricular septal hypertrophy, Palpitations, ST segment elevation, Ventricular hypertrophy, Card... ORPHA:263297
Combined Oxidative Phosphorylation Deficiency 31
Increased variability in muscle fiber diameter, Left ventricular noncompaction, Hypertrophic card... OMIM:617228
Amelogenesis Imperfecta, Type Ic
Amelogenesis imperfecta, Yellow-brown discoloration of the teeth, Anterior open-bite malocclusion... OMIM:204650
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14
Presyncope, Left bundle branch block, Palpitations, Premature ventricular contraction, Ventricula... OMIM:618920
Retinitis Pigmentosa 86
Bone spicule pigmentation of the retina, Cystoid macular edema, Hyperautofluorescent retinal lesi... OMIM:618613
Exudative Vitreoretinopathy 1
Posterior vitreous detachment, Retinal exudate, Retinal detachment, Vitreous floaters, Subcapsula... OMIM:133780
Cardiomyopathy, Dilated, 1G
Congestive heart failure, Reduced left ventricular ejection fraction, Atrial fibrillation, Premat... OMIM:604145
Otodental Dysplasia
Agenesis of premolar, Delayed eruption of teeth, Enamel hypoplasia, Long philtrum, Tooth ankylosi... OMIM:166750
Amelogenesis Imperfecta, Type Ih
Amelogenesis imperfecta, Yellow-brown discoloration of the teeth, Anterior open-bite malocclusion... OMIM:616221
Florid Cemento-Osseous Dysplasia
Supernumerary tooth, Atrophy of alveolar ridges, Oral ulcer, Abnormality of primary teeth, Abnorm... ORPHA:83451
Exudative Vitreoretinopathy 6
Falciform retinal fold, Posterior vitreous detachment, Retinal exudate, Patchy atrophy of the ret... OMIM:616468
Loeffler Endocarditis
Left atrial enlargement, Congestive heart failure, Endocardial fibrosis, Aortic regurgitation, Pa... ORPHA:75566
Long Qt Syndrome 9
Abnormal U wave, Prolonged QT interval, Cardiac arrest, Sinus bradycardia, Ventricular arrhythmia... OMIM:611818
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12
Right ventricular cardiomyopathy, Ventricular arrhythmia, Ventricular tachycardia, Prolonged QRS ... OMIM:611528
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
Ragged-red muscle fibers, Abnormal mitochondria in muscle tissue, Hypertrophic cardiomyopathy, Fl... OMIM:252011
Microtriplication 11Q24.1
Short philtrum, Keratoconus, Irregularly spaced teeth, Cleft palate, Smooth philtrum ORPHA:289522
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma
Cystoid macular degeneration, Retinal degeneration, Shallow anterior chamber, Macular atrophy OMIM:267760
Ventricular Tachycardia, Familial
Right bundle branch block, Cardiomyopathy, Sudden cardiac death, Paroxysmal ventricular tachycardia OMIM:192605
Anterior Segment Dysgenesis 8
Microphakia, Iris transillumination defect, Iridodonesis, Optic nerve dysplasia, Corneal stromal ... OMIM:617319
Sick Sinus Syndrome 4
Paroxysmal atrial fibrillation, Abnormal QRS complex, Syncope, Chronotropic incompetence, Abnorma... OMIM:619464
Combined Oxidative Phosphorylation Deficiency 10
Cardiomegaly, Pericardial effusion, Hypertrophic cardiomyopathy, Bradycardia OMIM:614702
Wild Type Attr Amyloidosis
Congestive heart failure, Bradycardia, Atrial fibrillation, Hypertrophic cardiomyopathy, Aortic v... ORPHA:330001
Retinitis Pigmentosa
Optic atrophy, Posterior subcapsular cataract, Bone spicule pigmentation of the retina, Keratocon... ORPHA:791
Short Qt Syndrome 2
Bradycardia, Atrial fibrillation, Ventricular fibrillation, Shortened QT interval, Syncope, Sudde... OMIM:609621
Senior-Loken Syndrome 7
Retinal degeneration OMIM:613615
Long Qt Syndrome 5
Torsade de pointes, Prolonged QTc interval, Ventricular fibrillation, Sinus bradycardia, Syncope,... OMIM:613695
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9
Epsilon wave, Right ventricular cardiomyopathy, Palpitations, Cardiac arrest, Premature ventricul... OMIM:609040
Pseudo-Torch Syndrome 2
Bradycardia, Secundum atrial septal defect, Cerebral hemorrhage, Lateral ventricle dilatation, Ce... OMIM:617397
Exudative Vitreoretinopathy 4
Posterior vitreous detachment, Retinal exudate, Subcapsular cataract, Tractional retinal detachme... OMIM:601813
Brugada Syndrome
Sick sinus syndrome, Paroxysmal ventricular tachycardia, ST segment elevation, Trifascicular bloc... ORPHA:130
Morning Glory Disc Anomaly
Cataract, Abnormality of retinal pigmentation, Retinal detachment, Optic disc coloboma ORPHA:35737
Retinitis Pigmentosa 77
Posterior subcapsular cataract, Bone spicule pigmentation of the retina, Cystoid macular edema, R... OMIM:617304
Amelogenesis Imperfecta, Hypomaturation Type, Iia2
Amelogenesis imperfecta, Yellow-brown discoloration of the teeth, Anterior open-bite malocclusion... OMIM:612529
Amelogenesis Imperfecta, Type Iiic
Amelogenesis imperfecta, Yellow-brown discoloration of the teeth, Anterior open-bite malocclusion... OMIM:618386
Atrial Septal Defect, Sinus Venosus Type
Congestive heart failure, Atrial flutter, Automatic atrial tachycardia, Atrial fibrillation, Supr... ORPHA:99105
Combined Oxidative Phosphorylation Deficiency 20
Left ventricular noncompaction, Hypertrophic cardiomyopathy OMIM:615917
Coats Disease
Retinal telangiectasia, Exudative retinal detachment, Leukocoria OMIM:300216
Atrial Fibrillation, Familial, 7
Paroxysmal atrial fibrillation, Prolonged QTc interval, Permanent atrial fibrillation, Premature ... OMIM:612240
Amelogenesis Imperfecta, Hypomaturation Type, Iia5
Amelogenesis imperfecta, Yellow-brown discoloration of the teeth, Carious teeth OMIM:615887
Amelogenesis Imperfecta, Hypomaturation Type, Iia4
Amelogenesis imperfecta, Enamel hypoplasia, Enamel hypomineralization OMIM:614832
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3
Bradycardia, Ragged-red muscle fibers, Cardiomyopathy, EMG: myopathic abnormalities, Limb muscle ... OMIM:609286
Long Qt Syndrome 8
Prolonged QTc interval, Ventricular fibrillation, Sinus bradycardia, Syncope, Aborted sudden card... OMIM:618447
Dandy-Walker Malformation With Postaxial Polydactyly
Hydrocephalus, Dandy-Walker malformation, Aortic valve stenosis, Dilated fourth ventricle, Agenes... OMIM:220220
Cardiomyopathy, Dilated, 1O
Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, Impaired myocardial co... OMIM:608569
Corneal Dystrophy, Fuchs Endothelial, 8
Corneal dystrophy, Corneal guttata OMIM:615523
Glutamine Deficiency, Congenital
Bradycardia, Camptodactyly, Neonatal death, Flexion contracture, Lateral ventricle dilatation OMIM:610015
Greig Cephalopolysyndactyly Syndrome
Inguinal hernia, Keratoconus, Omphalocele, Camptodactyly of toe, Hyperglycemia, Umbilical hernia,... OMIM:175700
Coloboma Of Optic Nerve
Retinal detachment, Optic disc coloboma OMIM:120430
Cardiomyopathy, Familial Hypertrophic, 17
Palpitations, Angina pectoris, Atrial fibrillation, Hypertrophic cardiomyopathy, Myocardial fibro... OMIM:613873
Amelogenesis Imperfecta, Type If
Amelogenesis imperfecta, Enamel hypoplasia, Dental enamel pits, Abnormality of dental color OMIM:616270
Progressive Familial Heart Block, Type Ii
Syncope, Complete heart block with narrow QRS complexes, Sinus bradycardia, Atrioventricular bloc... OMIM:140400
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Posterior lenticonus, Retinal dystrophy, Microcornea, Remnants of the hyaloid vascular system, Ch... ORPHA:231736
X-Linked Intellectual Disability-Plagiocephaly Syndrome
Bradycardia ORPHA:2898
Mental Retardation, Keratoconus, Febrile Seizures, And Sinoatrial Block
Keratoconus OMIM:609438
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3
Polymorphic ventricular tachycardia, Prolonged QT interval, Paroxysmal ventricular tachycardia, P... OMIM:614021
Coronary Arterial Fistula
Atrial septal defect, Congestive heart failure, Cardiomegaly, Tachycardia, Angina pectoris, Bacte... ORPHA:2041
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Congestive heart failure, Muscular dystrophy, Atrial flutter, Heart block, Atrial fibrillation, S... ORPHA:300751
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Atrioventricular block, Cerebellar hypoplasia, Joint contracture of the 5th finger, Bradycardia OMIM:614407
Congenital Primary Aphakia
Developmental glaucoma, Aniridia, Aplasia/Hypoplasia affecting the anterior segment of the eye, R... ORPHA:83461
Retinal Dystrophy And Iris Coloboma With Or Without Cataract
Iris coloboma, Developmental cataract, Retinal atrophy, Posterior synechiae of the anterior chamber OMIM:616722
Amelogenesis Imperfecta, Type Ie
Amelogenesis imperfecta, Enamel hypoplasia, Anterior open-bite malocclusion, Abnormal dentin morp... OMIM:301200
Corneal Dystrophy, Fuchs Endothelial, 6
Corneal stromal edema, Corneal dystrophy, Corneal guttata, Abnormal Descemet membrane morphology,... OMIM:613270
Amelogenesis Imperfecta, Type Iv
Amelogenesis imperfecta, Yellow-brown discoloration of the teeth, Enamel hypoplasia, Taurodontia OMIM:104510
Glycogen Storage Disease Iv
Bradycardia, Cardiomyopathy, Portal hypertension, Flexion contracture, Skeletal muscle atrophy, A... OMIM:232500
Cardiac Arrhythmia, Ankyrin-B-Related
Prolonged QT interval, Atrial fibrillation, Sinus bradycardia, Syncope, Sudden cardiac death OMIM:600919
Sick Sinus Syndrome 1
Sick sinus syndrome, Prolonged QT interval, Ventricular escape rhythm, Sinus bradycardia, Atriove... OMIM:608567
Romano-Ward Syndrome
Torsade de pointes, Prolonged QTc interval, Sinus bradycardia, Ventricular arrhythmia, Syncope, S... ORPHA:101016
Epidermolysis Bullosa, Junctional 4, Intermediate
Carious teeth, Dental enamel pits, Scarring alopecia of scalp OMIM:619787
Congenital Muscular Dystrophy With Cerebellar Involvement
Muscular dystrophy, Cerebellar cyst, Occipital encephalocele, Hydrocephalus, Calf muscle pseudohy... ORPHA:370959
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10
Epsilon wave, Right ventricular cardiomyopathy, Palpitations, Right bundle branch block, Prematur... OMIM:610193
Cardiomyopathy, Dilated, 2F
Congestive heart failure, Ventricular fibrillation, Ventricular tachycardia, Severely reduced lef... OMIM:619747
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Retinal dystrophy, Retinal detachment, Corneal scarring, Chorioretinal coloboma, Cataract, Buphth... OMIM:212550
Idiopathic Congenital Hypothyroidism
Umbilical hernia, Macroglossia, Bradycardia ORPHA:95717
Norrie Disease
Optic atrophy, Buphthalmos, Retinal dysplasia, Retinal detachment, Corneal opacity, Hypoplasia of... OMIM:310600
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8
Congestive heart failure, Right ventricular cardiomyopathy, Premature ventricular contraction, Ve... OMIM:607450
Glycogen Storage Disease Xv
Paroxysmal ventricular tachycardia, ST segment elevation, Right bundle branch block, Scapular win... OMIM:613507
Congenital Myopathy 22A, Classic
Normal pressure hydrocephalus, Bradycardia, Ragged-red muscle fibers, Scapular winging, Congenita... OMIM:620351
Cardiomyopathy, Dilated, 1Ii
Ventricular tachycardia, Increased left ventricular end-diastolic volume, Dilated cardiomyopathy,... OMIM:615184
Intellectual Developmental Disorder, Autosomal Dominant 48
Dysgenesis of the cerebellar vermis, Cerebellar vermis hypoplasia, Dilated fourth ventricle, Cere... OMIM:617751
Mitochondrial Complex Iv Deficiency, Nuclear Type 13
Left ventricular noncompaction, Hypertrophic cardiomyopathy OMIM:616501
Mitochondrial Complex I Deficiency, Nuclear Type 37
Bradycardia, Cerebellar atrophy, Pulmonary arterial hypertension, Skeletal muscle atrophy, Ventri... OMIM:619272
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13
First degree atrioventricular block, Right ventricular dilatation, Ventricular tachycardia, Left ... OMIM:615616
Short Syndrome
Abnormal anterior chamber morphology, Abnormal zygomatic bone morphology, Inguinal hernia, Abnorm... ORPHA:3163
Mitochondrial Complex Iv Deficiency, Nuclear Type 11
Dilated fourth ventricle, Cerebellar vermis atrophy, Torticollis, Foot dorsiflexor weakness OMIM:619054
Optic Atrophy-Intellectual Disability Syndrome
Optic atrophy, Keratoconus, Optic nerve hypoplasia, Optic disc hypoplasia ORPHA:401777
Aapoaiv Amyloidosis
Atrial flutter, Left bundle branch block, Cardiac amyloidosis, Left ventricular outflow tract obs... ORPHA:439232
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25
Muscular dystrophy, Muscle fiber necrosis, Limb muscle weakness, Limb-girdle muscle weakness, Cen... OMIM:616812
Myopia 3, Autosomal Dominant
Retinal detachment OMIM:603221
Myopia 25, Autosomal Dominant
Retinal detachment OMIM:617238
Myopia 2, Autosomal Dominant
Retinal detachment OMIM:160700
Myopia 5, Autosomal Dominant
Retinal detachment OMIM:608474
Acitretin/Etretinate Embryopathy
Atrioventricular canal defect, Conotruncal defect, Third degree atrioventricular block, Bradycardia ORPHA:40366
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature
Ventricular septal defect, Sinus bradycardia OMIM:126320
Vitreoretinopathy, Neovascular Inflammatory
Posterior retinal neovascularization, Peripheral retinal neovascularization, Retinal detachment, ... OMIM:193235
Warburg-Cinotti Syndrome
Corneal neovascularization, Ankle flexion contracture, Dental crowding, Decreased corneal thickne... OMIM:618175
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Persistent fetal circulation, Bradycardia, Hypertrophic cardiomyopathy, Pericardial effusion, Ven... OMIM:618775
Peripartum Cardiomyopathy
Left atrial enlargement, Hypertension, Sinus tachycardia, Heart murmur, Left ventricular hypertro... ORPHA:563
Epidermolysis Bullosa, Junctional 1A, Intermediate
Enamel hypoplasia, Carious teeth, Camptodactyly of finger, Hypodontia, Oral mucosal blisters OMIM:226650
Amoebic Keratitis
Abnormal anterior chamber morphology, Abnormal corneal epithelium morphology, Corneal ulceration,... ORPHA:67043
Costello Syndrome
Narrow palate, Thick lower lip vermilion, Keratoconus, Abnormal dental enamel morphology, Abnorma... ORPHA:3071
15Q11.2 Microdeletion Syndrome
Total anomalous pulmonary venous return, Dilated fourth ventricle, Abnormal heart morphology, Tet... ORPHA:261183
Catecholaminergic Polymorphic Ventricular Tachycardia
Palpitations, Atrial fibrillation, Supraventricular tachycardia, Ventricular fibrillation, Syncop... ORPHA:3286
Epidermolysis Bullosa Simplex 5B, With Muscular Dystrophy
Scarring alopecia of scalp, Punctate keratitis, Enamel hypoplasia, Carious teeth, Keratitis, Incr... OMIM:226670
Ciliary Dyskinesia, Primary, 53
Situs inversus totalis, Perimembranous ventricular septal defect, Cerebellar vermis hypoplasia, P... OMIM:620642
Danon Disease
Congestive heart failure, Wolff-Parkinson-White syndrome, Lower limb amyotrophy, Syncope, Myocard... OMIM:300257
Amelo-Onycho-Hypohidrotic Syndrome
Advanced eruption of teeth, Delayed eruption of teeth, Yellow-brown discoloration of the teeth, A... ORPHA:1028
Attrv122I Amyloidosis
Abnormal atrioventricular conduction, Congestive heart failure, Reduced left ventricular ejection... ORPHA:85451
Infant Acute Respiratory Distress Syndrome
Tachycardia, Cardiac arrest, Hypotension, Bradycardia ORPHA:70587
Mandibuloacral Dysplasia
Lipoatrophy, Hyperinsulinemia, Abnormal tongue morphology, Dental crowding, Loss of subcutaneous ... ORPHA:2457
Gapo Syndrome
Abnormal palate morphology, Delayed eruption of teeth, Keratoconus, Mandibular prognathia, Everte... ORPHA:2067
Spinocerebellar Ataxia, Autosomal Recessive 33
Dilated fourth ventricle, Cerebellar hypoplasia, Arrhythmia OMIM:620208
Developmental And Epileptic Encephalopathy 101
Limb joint contracture, Third degree atrioventricular block, Bradycardia OMIM:619814
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Cerebellar vermis hypoplasia, Dilated fourth ventricle OMIM:615771
Congenitally Uncorrected Transposition Of The Great Arteries
Abnormal QRS complex, Congestive heart failure, Abnormal ventriculoarterial connection, Abnormali... ORPHA:860
Arterial Tortuosity Syndrome
Congenital diaphragmatic hernia, Astigmatism, Inguinal hernia, Keratoconus, High palate, Microgna... OMIM:208050
Combined Oxidative Phosphorylation Defect Type 39
Limb hypertonia, Congenital foot contractures, Bradycardia, Abnormal cerebellum morphology, Later... ORPHA:565624
Naxos Disease
Congestive heart failure, Right ventricular cardiomyopathy, Paroxysmal ventricular tachycardia, P... OMIM:601214
Cardiomyopathy, Dilated, 1S
Congestive heart failure, Perimembranous ventricular septal defect, Reduced left ventricular ejec... OMIM:613426
Spinocerebellar Ataxia, Autosomal Recessive 13
Dilated fourth ventricle, Inferior cerebellar vermis hypoplasia, Cerebellar atrophy, Retrocerebel... OMIM:614831
Congenital Left Ventricular Aneurysm
Congestive heart failure, Abnormal left ventricle morphology, Abnormal ST segment, Arrhythmia, Ab... ORPHA:1055
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Patent foramen ovale, Neonatal death, Left ventricular hypertrophy, Dilated cardiomyopathy, Left ... OMIM:619167
Short Syndrome
Lipoatrophy, Astigmatism, Inguinal hernia, Delayed eruption of teeth, Hypodontia, Megalocornea, R... OMIM:269880
Proximal Spinal Muscular Atrophy
Distal lower limb muscle weakness, Weakness of facial musculature, Bradycardia, Facial diplegia, ... ORPHA:70
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal
Joint contracture, Limb hypertonia, Bradycardia OMIM:614498
Poretti-Boltshauser Syndrome
Cerebellar vermis hypoplasia, Cerebellar cyst, Dilated fourth ventricle, Cerebellar dysplasia OMIM:615960
Spinocerebellar Ataxia, Autosomal Recessive 2
Dilated fourth ventricle, Cerebellar hypoplasia, Cerebellar vermis atrophy OMIM:213200
Shaheen Syndrome
Enamel hypoplasia, Carious teeth OMIM:615328
Ebstein Malformation Of The Tricuspid Valve
Abnormal endocardium morphology, Congestive heart failure, Atrial fibrillation, Right bundle bran... ORPHA:1880
Ventricular Tachycardia, Catecholaminergic Polymorphic, 4
Cardiac arrest, Premature ventricular contraction, Ventricular fibrillation, Syncope, Ventricular... OMIM:614916
Down Syndrome
Narrow palate, Thick lower lip vermilion, Keratoconus, Narrow mouth, Abnormality of the dentition... ORPHA:870
Steroid Dehydrogenase Deficiency-Dental Anomalies Syndrome
Abnormal dental enamel morphology, Enamel hypoplasia, Supernumerary tooth ORPHA:3196
Cardiomyopathy, Dilated, 1Y
Congestive heart failure, Atrial fibrillation, Ebstein anomaly of the tricuspid valve, Left ventr... OMIM:611878
Severe X-Linked Intellectual Disability, Gustavson Type
Dandy-Walker malformation, Dilated fourth ventricle, Contractures of the large joints, Lateral ve... ORPHA:3078
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome
Cerebellar cyst, Inferior cerebellar vermis hypoplasia, Elongated superior cerebellar peduncle, D... ORPHA:370022
Severe Early-Childhood-Onset Retinal Dystrophy
Granular macular appearance, Abnormal corneal endothelium morphology, Posterior subcapsular catar... ORPHA:364055
Necrotizing Enterocolitis
Shock, Abnormal heart morphology, Hypotension, Bradycardia ORPHA:391673
Illum Syndrome
Calcinosis, Arthrogryposis multiplex congenita, Bradycardia OMIM:208155
Anterior Segment Dysgenesis 6
Corneal neovascularization, Developmental glaucoma, Corneal opacity, Abnormal Descemet membrane m... OMIM:617315
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Umbilical hernia, Macroglossia, Bradycardia ORPHA:226313
Gapo Syndrome
High, narrow palate, Thick lower lip vermilion, Keratoconus, Eruption failure, Megalocornea, Micr... OMIM:230740
Mandibuloacral Dysplasia With Type B Lipodystrophy
Decreased adipose tissue around neck, Hyperinsulinemia, Generalized lipodystrophy, Loss of trunca... OMIM:608612
Familial Thyroid Dyshormonogenesis
Umbilical hernia, Macroglossia, Bradycardia ORPHA:95716
Alagille Syndrome
Short philtrum, Keratoconus, Corneal dystrophy, Micrognathia, Abnormal pupil morphology ORPHA:52
Complete Atrioventricular Septal Defect
Displacement of the papillary muscles, Elevated pulmonary artery pressure, Congestive heart failu... ORPHA:1329
Angelman Syndrome
Astigmatism, Widely spaced teeth, Keratoconus, Mandibular prognathia, Protruding tongue, Iris hyp... ORPHA:72
Cardiac Diverticulum
Premature ventricular contraction, Aortic valve stenosis, Abnormal heart morphology, Arrhythmia, ... ORPHA:1686
Dentinogenesis Imperfecta 1
Yellow-brown discoloration of the teeth, Dentinogenesis imperfecta OMIM:125490
Neuropathy, Hereditary Sensory And Autonomic, Type Vi
Bradycardia, Hypertension, Retinal hemorrhage, Flexion contracture, Tachycardia, Ventricular sept... OMIM:614653
Glossopharyngeal Neuralgia
Syncope, Jaw claudication, Chiari type I malformation, Bradycardia ORPHA:221098
Nail-Patella Syndrome
Microphakia, Keratoconus, Microcornea, Cleft upper lip, Antecubital pterygium, Cleft palate, Cata... OMIM:161200
Lipodystrophy, Congenital Generalized, Type 4
Muscular dystrophy, Prolonged QT interval, Bradycardia, Atrial fibrillation, Skeletal muscle hype... OMIM:613327
Long Qt Syndrome 3
Torsade de pointes, Prolonged QTc interval, Ventricular flutter, Ventricular fibrillation, Syncop... OMIM:603830
Congenital Disorder Of Glycosylation, Type Im
Dilated cardiomyopathy, Bradycardia OMIM:610768
Usher Syndrome Type 2
Abnormality of dental color, Abnormal dental enamel morphology, Microdontia, Carious teeth, Iris ... ORPHA:231178
Tetanus
Tachycardia, Hypertension, Bradycardia ORPHA:3299
Neurodevelopmental Disorder With Motor And Language Delay, Ocular Defects, And Brain Abnormalities
Pontocerebellar atrophy, Cerebellar atrophy, Dilated fourth ventricle, Cerebellar hypoplasia, Ven... OMIM:620428
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language
Dilated fourth ventricle, Ventriculomegaly, Lateral ventricle dilatation OMIM:613443
Combined Oxidative Phosphorylation Deficiency 39
Cerebellar atrophy, Congenital contracture, Joint contracture, Sinus bradycardia, Flexion contrac... OMIM:618397
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant
Scarring alopecia of scalp, Carious teeth, Enamel hypoplasia, Keratitis, Conjunctivitis, Cataract OMIM:612843
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive
Keratoconus, Conjunctivitis OMIM:242150
Lacrimoauriculodentodigital Syndrome
Recurrent corneal erosions, Orofacial cleft, Corneal neovascularization, Abnormal salivary gland ... ORPHA:2363
Atrial Septal Defect, Ostium Secundum Type
Left-to-right shunt, Abnormal mitral valve morphology, Right ventricular dilatation, Supraventric... ORPHA:99103
Bohring-Opitz Syndrome
Bradycardia, Facial hypotonia, Dandy-Walker malformation, Bilateral wrist flexion contracture, Co... ORPHA:97297
Amelocerebrohypohidrotic Syndrome
Amelogenesis imperfecta, Abnormal dental enamel morphology, Yellow-brown discoloration of the tee... ORPHA:1946
Arterial Tortuosity Syndrome
Abnormal zygomatic bone morphology, Inguinal hernia, Keratoglobus, Keratoconus, Median cleft pala... ORPHA:3342
Van Der Woude Syndrome 2
Cleft upper lip, Cleft palate, Anodontia, Hypodontia, Dental malocclusion, Lip pit OMIM:606713
Jalili Syndrome
Amelogenesis imperfecta, Abnormal dental enamel morphology, Abnormality of dental color ORPHA:1873
Autosomal Recessive Cerebelloparenchymal Disorder Type 3
Dilated fourth ventricle, Cerebellar vermis atrophy, Cerebellar atrophy ORPHA:1170
Meckel Syndrome, Type 10
Occipital encephalocele, Anencephaly, Dandy-Walker malformation, Camptodactyly, Dilated fourth ve... OMIM:614175
Ventricular Fibrillation, Paroxysmal Familial, 1
Syncope, Ventricular fibrillation, Tachycardia OMIM:603829
Lujo Hemorrhagic Fever
Myocarditis, Bradycardia, Hypotension, Subconjunctival hemorrhage, Shock ORPHA:319213
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Bradycardia, Hydrocephalus, Cardiac arrest, Hypotension, Pulmonary arterial hypertension, Tachyca... OMIM:277400
Histiocytoid Cardiomyopathy
Congestive heart failure, Atrial flutter, Wolff-Parkinson-White syndrome, Tachycardia, Atrial fib... ORPHA:137675
Ataxia-Telangiectasia-Like Disorder
Cerebellar vermis hypoplasia, Dilated fourth ventricle, Cerebellar atrophy ORPHA:251347
Wars2-Related Combined Oxidative Phosphorylation Defect
Limb hypertonia, Cerebellar vermis hypoplasia, Cerebellar atrophy, Cardiomyopathy, Dilated fourth... ORPHA:572798
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia
Cerebellar vermis hypoplasia, Rhombencephalosynapsis, Dilated fourth ventricle, Flexion contractu... OMIM:619306
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Bradycardia OMIM:608800
Joubert Syndrome 6
Elongated superior cerebellar peduncle, Cerebellar vermis hypoplasia, Dilated fourth ventricle, T... OMIM:610688
D-Glyceric Aciduria
Bradycardia OMIM:220120
Tropical Endomyocardial Fibrosis
Left atrial enlargement, P pulmonale, Abnormal ST segment, Prolonged QRS complex, Cardiomegaly, P... ORPHA:75565
Odontomicronychial Dysplasia
Premature loss of primary teeth, Premature eruption of permanent teeth, Carious teeth, Abnormalit... ORPHA:1811
Mandibuloacral Dysplasia With Type A Lipodystrophy
Hyperinsulinemia, Dental crowding, Premature loss of teeth, Loss of subcutaneous adipose tissue i... OMIM:248370
Hypothyroidism Due To Tsh Receptor Mutations
Umbilical hernia, Macroglossia, Bradycardia ORPHA:90673
Lissencephaly Due To Tuba1A Mutation
Cerebellar vermis hypoplasia, Ventriculomegaly, Dilated fourth ventricle ORPHA:171680
Crimean-Congo Hemorrhagic Fever
Myocarditis, Hematemesis, Melena, Bradycardia, Capillary leak, Hypertension, Hypotension, Retinal... ORPHA:99827
Zaki Syndrome
Cerebellar vermis hypoplasia, Patent foramen ovale, Dilated fourth ventricle, Congenital diaphrag... OMIM:619648
Neuroleptic Malignant Syndrome
Bradycardia, Hypertension, Hypotension, Hypertensive crisis, Rhabdomyolysis, Arrhythmia, Tachycar... ORPHA:94093
Autosomal Recessive Cutis Laxa Type 2A
Cerebellar vermis hypoplasia, Dandy-Walker malformation, Dilated fourth ventricle, Cerebellar mal... ORPHA:357058
Aniridia 1
Corneal neovascularization, Aniridia, Corneal erosion, Hypoplasia of the iris, Anterior subcapsul... OMIM:106210
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1
Inguinal hernia, Keratoconus, Microcornea, Dental crowding OMIM:225400
Sepsis In Premature Infants
Tachycardia, Hypotension, Bradycardia ORPHA:90051
Encephalitis Lethargica
Upper limb muscle weakness, Bradycardia ORPHA:83600
Congenital Disorder Of Glycosylation, Type Ia
Cerebellar vermis hypoplasia, Cardiomyopathy, Cerebellar atrophy, Dilated fourth ventricle, Peric... OMIM:212065
Cutis Laxa, Autosomal Recessive, Type Ib
Congenital diaphragmatic hernia, Pulmonary insufficiency, Bradycardia, Tricuspid regurgitation, P... OMIM:614437
Absence Of The Pulmonary Artery
Congestive heart failure, Abnormal hemidiaphragm morphology, Atrial flutter, Reduced left ventric... ORPHA:980
Isolated Thyroid-Stimulating Hormone Deficiency
Umbilical hernia, Macroglossia, Bradycardia ORPHA:90674
Spinocerebellar Ataxia 2
Dilated fourth ventricle, Olivopontocerebellar atrophy, Distal amyotrophy, Cerebellar atrophy OMIM:183090
3-Methylglutaconic Aciduria, Type Viii
Ventriculomegaly, Neonatal death, Bradycardia OMIM:617248
Spinocerebellar Ataxia 1
Spinocerebellar atrophy, Distal amyotrophy, Dilated fourth ventricle, Olivopontocerebellar atroph... OMIM:164400
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Abnormal cerebellum morphology, Umbilical hernia, Macroglossia, Bradycardia ORPHA:226307
Sheehan Syndrome
Palpitations, Orthostatic hypotension, Bradycardia ORPHA:91355
Machado-Joseph Disease Type 1
Dilated fourth ventricle, Distal lower limb amyotrophy, Cerebellar atrophy, Skeletal muscle atrophy ORPHA:276238
Machado-Joseph Disease Type 2
Dilated fourth ventricle, Distal lower limb amyotrophy, Cerebellar atrophy, Skeletal muscle atrophy ORPHA:276241
Neurocardiofaciodigital Syndrome
Double inlet left ventricle, Cerebellar vermis hypoplasia, Dilated fourth ventricle, Tetralogy of... OMIM:619869
Marburg Hemorrhagic Fever
Bradycardia, Capillary leak, Hypotension, Hypovolemia, Internal hemorrhage, Pericarditis, Subconj... ORPHA:99826
Machado-Joseph Disease
Dilated fourth ventricle, Distal amyotrophy, Cerebellar atrophy OMIM:109150
Asparagine Synthetase Deficiency
Limb hypertonia, Cerebellar vermis hypoplasia, Dilated third ventricle, Dilated fourth ventricle,... OMIM:615574
Hypermobile Ehlers-Danlos Syndrome
High, narrow palate, Inguinal hernia, Keratoconus, Dental crowding, Gingival overgrowth, Genital ... ORPHA:285
Machado-Joseph Disease Type 3
Dilated fourth ventricle, Distal lower limb amyotrophy, Cerebellar atrophy, Skeletal muscle atrophy ORPHA:276244
Short Qt Syndrome 3
Tachycardia, Palpitations, Shortened QT interval OMIM:609622
Abnormal Hair, Joint Laxity, And Developmental Delay
Sinus bradycardia, Mitral regurgitation, Tricuspid regurgitation OMIM:261990
Vascular Ehlers-Danlos Syndrome
Thin vermilion border, High, narrow palate, Inguinal hernia, Periodontitis, Keratoconus, Gingival... ORPHA:286
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Patent foramen ovale, Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, R... OMIM:300967
Cardiac-Urogenital Syndrome
Congenital diaphragmatic hernia, Mesocardia, Partial anomalous pulmonary venous return, Dextrocar... OMIM:618280
Hypothyroidism, Congenital, Nongoitrous, 2
Umbilical hernia, Macroglossia, Bradycardia OMIM:218700
Severe Generalized Junctional Epidermolysis Bullosa
Dilated cardiomyopathy, Bradycardia ORPHA:79404
Holt-Oram Syndrome
Aplasia of the pectoralis major muscle, Small thenar eminence, Pulmonic stenosis, Mitral valve pr... OMIM:142900
Enamel-Renal Syndrome
Amelogenesis imperfecta, Delayed eruption of teeth, Yellow-brown discoloration of the teeth, Abno... ORPHA:1031
Ehlers-Danlos Syndrome, Vascular Type
Thin vermilion border, Inguinal hernia, Periodontitis, Keratoconus, Premature loss of teeth, Ciga... OMIM:130050
Intellectual Developmental Disorder With Microcephaly And Pontine And Cerebellar Hypoplasia
Dilated fourth ventricle, Cerebellar hypoplasia, Hypoplasia of the pons OMIM:300749
Yellow Fever
Hematemesis, Reduced left ventricular ejection fraction, Bradycardia, Capillary leak, Supraventri... ORPHA:99829
Meckel Syndrome, Type 1
Occipital encephalocele, Large placenta, Anencephaly, Hydrocephalus, Dandy-Walker malformation, D... OMIM:249000
Truncus Arteriosus
Transposition of the great arteries, Aortic regurgitation, Tachycardia, Abnormal heart valve morp... ORPHA:3384
Congenital Total Pulmonary Venous Return Anomaly
Infracardiac total anomalous pulmonary venous connection, Atrial situs ambiguous, Transposition o... ORPHA:99125
Arima Syndrome
Cerebellar vermis hypoplasia, Hypertension, Dilated fourth ventricle, Occipital meningocele, Agen... OMIM:243910
Orofaciodigital Syndrome Type 14
Dilated fourth ventricle, Dandy-Walker malformation, Ventricular septal defect, Dilated third ven... ORPHA:434179
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability
Ventriculomegaly, Cerebellar vermis hypoplasia, Dandy-Walker malformation, Cardiomyopathy, Dilate... ORPHA:480880
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction
Sinus bradycardia OMIM:619482

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 Tead1

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 Tead1.

There are 6 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Tead1 is essential for mitochondrial function in cardiomyocytes. American journal of physiology. Heart and circulatory physiology (June 2020) Tead1tm1c(KOMP)Wtsi PMC7474438
Transcription factor TEAD1 is essential for vascular development by promoting vascular smooth muscle differentiation. Cell death and differentiation (April 2019) Tead1tm1c(KOMP)Wtsi 31024075
TEAD1 (TEA Domain Transcription Factor 1) Promotes Smooth Muscle Cell Proliferation Through Upregulating SLC1A5 (Solute Carrier Family 1 Member 5)-Mediated Glutamine Uptake. Circulation research (April 2019) Tead1tm1c(KOMP)Wtsi Tead1tm1d(KOMP)Wtsi PMC6493685
Tead1 is required for perinatal cardiomyocyte proliferation. PloS one (February 2019) Tead1tm1c(KOMP)Wtsi PMC6392249
Characterization of mice carrying a conditional TEAD1 allele. Genesis (New York, N.Y. : 2000) (December 2017) Tead1tm1c(KOMP)Wtsi Tead1tm1a(KOMP)Wtsi Tead1tm1d(KOMP)Wtsi 29193599
Tead1 is required for maintaining adult cardiomyocyte function, and its loss results in lethal dilated cardiomyopathy. JCI insight (September 2017) Tead1tm1c(KOMP)Wtsi PMC5621883

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MGI Allele Allele Type Produced
Tead1tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Tead1tm1b(KOMP)Wtsi Reporter-tagged deletion allele (with selection cassette) Mice

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