Gene Summary

Name:
centromere protein T
Synonyms:
G630055P03Rik

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

Phenotype System Allele Zyg Sex Life Stage P Value
increased cornea thickness Cenptem1(IMPC)Bay HET Late adult 7.81×10-05
preweaning lethality, complete penetrance Cenptem1(IMPC)Bay HOM Early adult 0.00
embryonic lethality prior to organogenesis Cenptem1(IMPC)Bay HOM   E9.5 0.00
preweaning lethality, incomplete penetrance Cenptem1(IMPC)Bay HOM   Early adult 0.00
decreased heart rate Cenptem1(IMPC)Bay HET Late adult 0.00

Download data as:  TSV  XLS

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

lacZ Expression

Expression data not available

Associated Images

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

Eye Morphology

VIP of right fundus

17 Images

Eye Morphology

VIP of right eye

17 Images

Eye Morphology

VIP of left eye

17 Images

Eye Morphology

VIP of left fundus

17 Images

X-ray

XRay Images Whole Body Lateral Orientation

8 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

8 Images

X-ray

XRay Images Whole Body Dorso Ventral

8 Images

X-ray

XRay Images Skull Lateral Orientation

8 Images

X-ray

XRay Images Forepaw

8 Images

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Short Stature And Microcephaly With Genital Anomalies
OMIM:618702

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Cataract 46, Juvenile-Onset, With Or Without Arrhythmic Cardiomyopathy
Juvenile cataract, Arrhythmia, Sudden cardiac death OMIM:212500
Sinoatrial Node Dysfunction And Deafness
Bradycardia, Syncope, Abnormal QRS complex, Increased heart rate variability OMIM:614896
Epilepsy, Idiopathic Generalized, Susceptibility To, 18
Bradycardia OMIM:619521
Atrial Fibrillation, Familial, 18
Paroxysmal atrial fibrillation, Palpitations, First degree atrioventricular block, Permanent atri... OMIM:617280
Cardiac Conduction Defect
Syncope, Arrhythmia OMIM:115080
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2
Bradycardia, Syncope, Ventricular tachycardia, Polymorphic ventricular tachycardia OMIM:611938
Corneal Dystrophy, Lisch Epithelial
Corneal dystrophy OMIM:300778
Keratoconus 1
Astigmatism, Keratoconus OMIM:148300
Keratoconus 6
Keratoconus OMIM:614623
Keratoconus 5
Keratoconus OMIM:614622
Keratoconus 8
Keratoconus OMIM:614628
Keratoconus 7
Keratoconus OMIM:614629
Corneal Endothelial Dystrophy
Abnormal Descemet membrane morphology, Increased corneal thickness, Opacification of the corneal ... OMIM:217700
Supravalvular Aortic Stenosis
Arrhythmia, Supravalvular aortic stenosis ORPHA:3193
Keratoconus 9
Keratoconus, Decreased corneal thickness OMIM:617928
Atrial Septal Defect 6
Bradycardia, Atrial fibrillation OMIM:613087
Nathalie Syndrome
Cataract, Arrhythmia ORPHA:2663
Familial Short Qt Syndrome
Syncope, Palpitations, Shortened QT interval, Sudden cardiac death, Atrioventricular block, Ventr... ORPHA:51083
Corneal Dystrophy, Congenital Stromal
Corneal erosion, Increased corneal thickness, Band-shaped corneal dystrophy, Corneal dystrophy OMIM:610048
His Bundle Tachycardia
Arrhythmia, Junctional ectopic tachycardia, Cardiomyopathy ORPHA:3283
Long Qt Syndrome 15
Cardiac arrest, Prolonged QTc interval, Syncope, Ventricular bigeminy, Polymorphic ventricular ta... OMIM:616249
Long Qt Syndrome 5
Prolonged QTc interval, Torsade de pointes, Syncope, Sudden cardiac death, Sinus bradycardia, Ven... OMIM:613695
Short Qt Syndrome 2
Syncope, Shortened QT interval, Sudden cardiac death, Ventricular fibrillation, Bradycardia, Atri... OMIM:609621
Long Qt Syndrome 9
Cardiac arrest, Syncope, Abnormal U wave, Sinus bradycardia, Prolonged QT interval, Ventricular a... OMIM:611818
Cardiac Arrhythmia, Ankyrin-B-Related
Syncope, Sudden cardiac death, Sinus bradycardia, Prolonged QT interval, Atrial fibrillation OMIM:600919
Megalocornea
Cataract, Megalocornea, Astigmatism, Iridodonesis, Mosaic corneal dystrophy, Decreased corneal th... OMIM:309300
Progressive Familial Heart Block, Type Ib
Left anterior fascicular block, Syncope, Arrhythmia, Atrioventricular block, Shortened PR interva... OMIM:604559
Arrhythmogenic Right Ventricular Dysplasia, Familial, 1
Right ventricular cardiomyopathy, Ventricular arrhythmia, Sudden cardiac death OMIM:107970
Progressive Familial Heart Block, Type Ii
Syncope, Sudden cardiac death, Complete heart block with narrow QRS complexes, Sinus bradycardia,... OMIM:140400
Corneal Dystrophy, Posterior Polymorphous, 2
Corneal opacity, Corneal dystrophy OMIM:609140
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Cardiac arrest, Prolonged QTc interval, Left anterior fascicular block, Atrial fibrillation, Paro... OMIM:616117
Long Qt Syndrome 16
Prolonged QTc interval, Bradycardia, Second degree atrioventricular block, T-wave alternans OMIM:618782
Atrial Fibrillation, Familial, 7
Prolonged QTc interval, Paroxysmal atrial fibrillation, Palpitations, Premature atrial contractio... OMIM:612240
Corneal Dystrophy, Endothelial, X-Linked
Band keratopathy, Corneal opacity, Corneal dystrophy OMIM:300779
Sick Sinus Syndrome 1
Absent P wave, Sick sinus syndrome, Sinus bradycardia, Atrioventricular block, Prolonged QT inter... OMIM:608567
Long Qt Syndrome 8
Prolonged QTc interval, Syncope, Aborted sudden cardiac death, Sudden cardiac death, Sinus bradyc... OMIM:618447
Cornea Plana 2, Autosomal Recessive
Decreased corneal thickness, Corneal arcus, Sclerocornea, Corneal opacity, Flat cornea OMIM:217300
Chronic Atrial And Intestinal Dysrhythmia
Mitral regurgitation, Pulmonic stenosis, Sick sinus syndrome, Atrial flutter, Bradycardia, Atrial... OMIM:616201
Schnyder Corneal Dystrophy
Crystalline corneal dystrophy, Corneal dystrophy OMIM:121800
Central Cloudy Dystrophy Of Francois
Central corneal dystrophy, Corneal dystrophy OMIM:217600
Sick Sinus Syndrome 4
Paroxysmal atrial fibrillation, Syncope, Sinoatrial block, Abnormal QT interval, Sinus bradycardi... OMIM:619464
Brugada Syndrome
Cardiac arrest, ST segment elevation, Syncope, Supraventricular tachycardia, Trifascicular block,... ORPHA:130
Atrial Standstill
Mobitz I atrioventricular block, Ventricular tachycardia, Reduced left ventricular ejection fract... ORPHA:1344
Corneal Dystrophy, Epithelial Basement Membrane
Recurrent corneal erosions, Map-dot-fingerprint corneal dystrophy, Corneal dystrophy OMIM:121820
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3
Cardiac arrest, Ventricular tachycardia, Syncope, Palpitations, Bidirectional ventricular tachyca... OMIM:614021
Cardiomyopathy, Familial Hypertrophic, 6
Asymmetric septal hypertrophy, Prolonged QRS complex, Wolff-Parkinson-White syndrome, Syncope, Pa... OMIM:600858
Cardiomyopathy, Dilated, 1A
Second degree atrioventricular block, First degree atrioventricular block, Sudden cardiac death, ... OMIM:115200
Macular Corneal Dystrophy
Recurrent corneal erosions, Punctate opacification of the cornea, Corneal crystals, Decreased cor... ORPHA:98969
Ventricular Fibrillation, Paroxysmal Familial, 1
Syncope, Tachycardia, Ventricular fibrillation OMIM:603829
Catecholaminergic Polymorphic Ventricular Tachycardia
Syncope, Ventricular tachycardia, Sudden cardiac death ORPHA:3286
Atrial Fibrillation, Familial, 9
Prolonged QTc interval, Paroxysmal atrial fibrillation, Syncope, Palpitations, Permanent atrial f... OMIM:613980
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy
Ventricular tachycardia, Ventricular couplet, Paroxysmal atrial fibrillation, Effort-induced poly... OMIM:604772
Congenital Hereditary Endothelial Dystrophy Type Ii
Irregular astigmatism, Corneal stromal edema, Increased corneal thickness, Corneal opacity, Abnor... ORPHA:293603
Intellectual Developmental Disorder With Cardiac Arrhythmia
Sick sinus syndrome, Bradycardia OMIM:617173
Mental Retardation, Keratoconus, Febrile Seizures, And Sinoatrial Block
Keratoconus, Sinoatrial block, Abnormal electrophysiology of sinoatrial node origin OMIM:609438
Atrial Fibrillation, Familial, 15
Supraventricular tachycardia, Atrial flutter, Atrial fibrillation, Sudden cardiac death OMIM:615770
Atrial Fibrillation, Familial, 10
Paroxysmal atrial fibrillation, Tricuspid regurgitation, Atrial flutter, Permanent atrial fibrill... OMIM:614022
Atrial Fibrillation, Familial, 4
Paroxysmal atrial fibrillation, Palpitations, Premature atrial contractions, Permanent atrial fib... OMIM:611493
Ventricular Tachycardia, Catecholaminergic Polymorphic, 4
Cardiac arrest, Ventricular tachycardia, Syncope, Sudden cardiac death, Premature ventricular con... OMIM:614916
Heart-Hand Syndrome, Slovenian Type
Abnormal electrophysiology of sinoatrial node origin, Arrhythmia, Supraventricular arrhythmia, Di... ORPHA:168796
Long Qt Syndrome 13
Cardiac arrest, Prolonged QTc interval, Reduced left ventricular ejection fraction, Torsade de po... OMIM:613485
Brugada Syndrome 1
Cardiac arrest, Syncope, Supraventricular tachycardia with an accessory connection mediated pathw... OMIM:601144
Sick Sinus Syndrome 2
Cardiac arrest, Prolonged QTc interval, Paroxysmal atrial fibrillation, Torsade de pointes, Synco... OMIM:163800
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5
Ventricular tachycardia, Prolonged QRS complex, Right ventricular cardiomyopathy, Palpitations, S... OMIM:604400
Dermoids Of Cornea
Corneal opacity OMIM:304730
Sudden Cardiac Failure, Infantile
Myocarditis, Sudden cardiac death, Congestive heart failure, Hypertrophic cardiomyopathy, Bradyca... OMIM:617222
Paroxysmal Extreme Pain Disorder
Bradycardia, Tachycardia OMIM:167400
Incessant Infant Ventricular Tachycardia
Cardiac arrest, Ventricular tachycardia, Prolonged QRS complex, Left ventricular systolic dysfunc... ORPHA:45453
Ventricular Tachycardia, Familial
Cardiomyopathy, Right bundle branch block, Paroxysmal ventricular tachycardia, Sudden cardiac death OMIM:192605
Long Qt Syndrome 2
Cardiac arrest, Prolonged QTc interval, Torsade de pointes, Syncope, Sudden cardiac death, Ventri... OMIM:613688
Cardiomyopathy, Dilated, 1P
Reduced systolic function, Congestive heart failure, Dilated cardiomyopathy, Ventricular arrhythmia OMIM:609909
Long Qt Syndrome 6
Cardiac arrest, Prolonged QTc interval, Torsade de pointes, Syncope, Sudden cardiac death, Ventri... OMIM:613693
Cardiomyopathy, Familial Hypertrophic, 12
Ventricular tachycardia, Paroxysmal atrial fibrillation, Reduced left ventricular endsystolic dia... OMIM:612124
Cardiomyopathy, Dilated, 1Ii
Cataract, Ventricular tachycardia, Mitral regurgitation, Moderately reduced left ventricular ejec... OMIM:615184
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome
Arrhythmia, Sick sinus syndrome, Prolonged PR interval, Keratoconus, Bradycardia, Ventricular esc... ORPHA:542306
Pupillary Membrane, Persistence Of
Megalocornea, Developmental cataract, Persistent pupillary membrane OMIM:178900
Ring Dermoid Of Cornea
Abnormal corneal limbus morphology, Abnormal conjunctiva morphology, Corneal astigmatism, Abnorma... OMIM:180550
Wolff-Parkinson-White Syndrome
Ventricular preexcitation with multiple accessory pathways, Prolonged QRS complex, Wolff-Parkinso... OMIM:194200
Cardiomyopathy, Dilated, 1G
Ventricular tachycardia, Reduced left ventricular ejection fraction, Premature atrial contraction... OMIM:604145
Brittle Cornea Syndrome 2
Corneal perforation, Megalocornea, Keratoglobus, Decreased corneal thickness, Keratoconus, Sclero... OMIM:614170
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Corneal opacity, Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Bradycardia, Developmental ... OMIM:618815
Cardiomyopathy, Dilated, 1E
Reduced left ventricular ejection fraction, Syncope, Palpitations, Supraventricular tachycardia, ... OMIM:601154
Corneal Dystrophy, Fuchs Endothelial, 1
Descemet Membrane Folds, Corneal guttata, Corneal dystrophy, Corneal stromal edema, Corneal degen... OMIM:136800
Myopathy, Myofibrillar, 1
Restrictive cardiomyopathy, Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Bradycardia, Thi... OMIM:601419
Romano-Ward Syndrome
Prolonged QTc interval, Abnormal T-wave, Torsade de pointes, Syncope, Sudden cardiac death, Sinus... ORPHA:101016
Atrial Standstill 1
Atrial cardiomyopathy, Paroxysmal atrial fibrillation, Atrial standstill, First degree atrioventr... OMIM:108770
Cardiomyopathy, Dilated, 1D
Reduced left ventricular ejection fraction, Sudden cardiac death, Congestive heart failure, Sinus... OMIM:601494
Corneal Dystrophy, Posterior Polymorphous, 3
Ectopia pupillae, Corneal guttata, Keratoconus, Corneal dystrophy OMIM:609141
Cardiomyopathy, Dilated, 1O
Ventricular tachycardia, Impaired myocardial contractility, Congestive heart failure, Dilated car... OMIM:608569
Leber Congenital Amaurosis 7
Cataract, Keratoconus OMIM:613829
Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness
Cardiac arrest, Syncope, Polymorphic ventricular tachycardia, Premature ventricular contraction, ... OMIM:615441
Ventricular Arrhythmias Due To Cardiac Ryanodine Receptor Calcium Release Deficiency Syndrome
Polymorphic and polytopic ventricular extrasystoles, Left ventricular noncompaction cardiomyopath... OMIM:115000
Edict Syndrome
Astigmatism, Anterior polar cataract, Hypoplasia of the iris, Keratoconus, Microcornea OMIM:614303
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12
Ventricular tachycardia, Prolonged QRS complex, Right ventricular cardiomyopathy, Syncope, T-wave... OMIM:611528
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant
Bradycardia, Atrial fibrillation OMIM:614302
Cataract-Microcornea Syndrome
Cataract, Iris coloboma, Corneal dystrophy, Corneal opacity, Microcornea ORPHA:1377
Long Qt Syndrome 1
Prolonged QTc interval, Torsade de pointes, Syncope, Sudden cardiac death, Ventricular fibrillati... OMIM:192500
Short Qt Syndrome 1
Cardiac arrest, Paroxysmal atrial fibrillation, Syncope, Palpitations, Shortened QT interval, Sud... OMIM:609620
Short Qt Syndrome 3
Palpitations, Tachycardia, Shortened QT interval OMIM:609622
Atrial Fibrillation, Familial, 3
Prolonged QTc interval, Paroxysmal atrial fibrillation, Syncope, Sudden cardiac death, Permanent ... OMIM:607554
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia
Sick sinus syndrome, Bradycardia OMIM:617182
Brugada Syndrome 9
ST segment elevation, Palpitations, Prolonged QT interval, Presyncope OMIM:616399
Atrial Septal Defect-Atrioventricular Conduction Defects Syndrome
Arrhythmia, Bundle branch block ORPHA:1479
Jervell And Lange-Nielsen Syndrome 1
Prolonged QTc interval, Torsade de pointes, Syncope, Sudden cardiac death, Prolonged QT interval OMIM:220400
Long Qt Syndrome 3
Prolonged QTc interval, Ventricular tachycardia, Torsade de pointes, Syncope, Sudden cardiac deat... OMIM:603830
X-Linked Intellectual Disability-Plagiocephaly Syndrome
Bradycardia ORPHA:2898
Atrial Standstill 2
Atrial cardiomyopathy, Palpitations, Absent P wave, Atrial standstill, Cardiomyopathy, Bradycardi... OMIM:615745
Left Ventricular Noncompaction 8
Left ventricular diastolic dysfunction, Left ventricular systolic dysfunction, Mitral regurgitati... OMIM:615373
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8
Ventricular tachycardia, Right ventricular cardiomyopathy, Sudden cardiac death, Premature ventri... OMIM:607450
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14
Ventricular tachycardia, Palpitations, Premature ventricular contraction, Presyncope, Left bundle... OMIM:618920
Leber Congenital Amaurosis 6
Cataract, Keratoconus OMIM:613826
Cardiomyopathy, Familial Hypertrophic, 16
Asymmetric septal hypertrophy, Ventricular tachycardia, Reduced left ventricular ejection fractio... OMIM:613838
Long Qt Syndrome 12
Prolonged QTc interval, Syncope, Torsade de pointes, Ventricular fibrillation OMIM:612955
Brugada Syndrome 8
ST segment elevation, Ventricular tachycardia, Right bundle branch block OMIM:613123
Brugada Syndrome 3
Syncope, Shortened QT interval, Sudden cardiac death, Ventricular arrhythmia, Atrial fibrillation... OMIM:611875
Long Qt Syndrome 14
Cardiac arrest, Prolonged QTc interval, T-wave alternans, Ventricular fibrillation, 2:1 atriovent... OMIM:616247
Cardiomyopathy, Dilated, 2F
Ventricular tachycardia, Severely reduced left ventricular ejection fraction, Congestive heart fa... OMIM:619747
Short Qt Syndrome 7
Cardiac arrest, Syncope, Shortened QT interval, Sudden cardiac death, Ventricular fibrillation OMIM:620231
Familial Progressive Cardiac Conduction Defect
Heart block, Syncope, Arrhythmia, Bundle branch block, Congestive heart failure ORPHA:871
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10
Ventricular tachycardia, Epsilon wave, Right ventricular cardiomyopathy, Palpitations, Sudden car... OMIM:610193
Brugada Syndrome 6
Cardiac arrest, ST segment elevation, Ventricular fibrillation OMIM:613119
Jervell And Lange-Nielsen Syndrome 2
Torsade de pointes, Syncope, Sudden cardiac death, Premature ventricular contraction, Prolonged Q... OMIM:612347
Cardiomyopathy, Dilated, 2G
Monomorphic ventricular tachycardia, Mitral regurgitation, Cerebral hemorrhage, Multifocal atrial... OMIM:619897
Ventricular Fibrillation, Paroxysmal Familial, 2
Premature ventricular contraction, Ventricular fibrillation, Sudden cardiac death OMIM:612956
Long Qt Syndrome 10
T-wave alternans, Sudden cardiac death, Atrioventricular block, Prolonged QT interval, Atrial fib... OMIM:611819
Arrhythmogenic Right Ventricular Dysplasia, Familial, 6
Right ventricular cardiomyopathy, Premature ventricular contraction, Sudden cardiac death OMIM:604401
Cardiomyopathy, Familial Hypertrophic, 14
Ventricular tachycardia, Left ventricular outflow tract obstruction, Severely reduced left ventri... OMIM:613251
Corneal Dystrophy, Fuchs Endothelial, 8
Corneal guttata, Corneal dystrophy OMIM:615523
Tako-Tsubo Cardiomyopathy
Prolonged QTc interval, ST segment elevation, Mitral regurgitation, Hypotension, Syncope, Palpita... ORPHA:66529
Congenital Heart Defects, Multiple Types, 3
Right bundle branch block, Atrioventricular dissociation, Atrioventricular block, Tachycardia, At... OMIM:614954
Cardiomyopathy, Familial Hypertrophic, 10
Asymmetric septal hypertrophy, Ventricular tachycardia, Palpitations, Supraventricular tachycardi... OMIM:608758
Coenzyme Q10 Deficiency, Primary, 7
Bradycardia, Hypertrophic cardiomyopathy OMIM:616276
Corneal Dystrophy, Fuchs Endothelial, 6
Corneal guttata, Corneal dystrophy, Corneal stromal edema, Abnormal Descemet membrane morphology,... OMIM:613270
Corneal Dystrophy, Fuchs Endothelial, 2
Corneal guttata, Corneal dystrophy, Corneal degeneration OMIM:610158
Mitochondrial Complex I Deficiency, Nuclear Type 13
Cardiac arrest, Bradycardia, Hypertrophic cardiomyopathy OMIM:618235
Brittle Cornea Syndrome 1
Keratoglobus, Keratoconus, Abnormal cornea morphology, Decreased corneal thickness OMIM:229200
Brugada Syndrome 7
ST segment elevation, Paroxysmal atrial fibrillation, Atrial flutter, Prolonged P wave, Permanent... OMIM:613120
Aminoacylase 1 Deficiency
Bradycardia OMIM:609924
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Bradycardia, Hypertrophic cardiomyopathy OMIM:616277
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9
Cardiac arrest, Ventricular tachycardia, Prolonged QRS complex, Epsilon wave, Right ventricular c... OMIM:609040
Cardiomyopathy, Familial Hypertrophic, 11
Cardiac arrest, Left anterior fascicular block, Ventricular tachycardia, Syncope, Palpitations, A... OMIM:612098
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Bradycardia, Congestive heart failure OMIM:619048
Corneal Dystrophy, Fuchs Endothelial, 3
Corneal guttata, Corneal stromal edema, Corneal opacity OMIM:613267
Infant Acute Respiratory Distress Syndrome
Cardiac arrest, Tachycardia, Bradycardia, Hypotension ORPHA:70587
Cardiomyopathy, Dilated, 1Nn
Mitral regurgitation, Reduced left ventricular ejection fraction, Abnormal ST segment, Congestive... OMIM:615916
Brugada Syndrome 2
Syncope, First degree atrioventricular block, Sudden cardiac death, Prolonged PR interval, Ventri... OMIM:611777
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13
Ventricular tachycardia, Left bundle branch block, First degree atrioventricular block OMIM:615616
Carnitine-Acylcarnitine Translocase Deficiency
Cardiac arrest, Ventricular tachycardia, Hypotension, Cardiomyopathy, Premature ventricular contr... OMIM:212138
Atrial Septal Defect, Sinus Venosus Type
Right bundle branch block, Pulmonary arterial hypertension, Systolic heart murmur, Automatic atri... ORPHA:99105
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract
Cataract, Aniridia, Microcornea OMIM:106230
Lattice Corneal Dystrophy Type I
Subepithelial corneal opacities, Central posterior corneal opacity, Recurrent corneal erosions, C... ORPHA:98964
Atrial Tachyarrhythmia With Short Pr Interval
Paroxysmal atrial tachycardia, Paroxysmal atrial fibrillation, Shortened PR interval, Permanent a... OMIM:108950
Anterior Segment Dysgenesis 6
Posterior synechiae of the anterior chamber, Corneal opacity, Developmental glaucoma, Abnormal De... OMIM:617315
Sinus Node Disease And Myopia
Sick sinus syndrome, Abnormal electrophysiology of sinoatrial node origin OMIM:182190
Wild Type Attr Amyloidosis
Abnormal EKG, Arrhythmia, Myocardial infarction, Congestive heart failure, Orthostatic hypotensio... ORPHA:330001
Lipoyltransferase 1 Deficiency
Bradycardia, Pulmonary arterial hypertension OMIM:616299
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3
Bradycardia, Arrhythmia, Cardiomyopathy, Cataract OMIM:609286
Leber Congenital Amaurosis 4
Keratoconus OMIM:604393
Cln3 Disease
Bradycardia, T-wave inversion, Cataract ORPHA:228346
Cataract 1, Multiple Types
Nuclear cataract, Pulverulent cataract, Microcornea, Posterior subcapsular cataract OMIM:116200
Developmental And Epileptic Encephalopathy 101
Bradycardia, Third degree atrioventricular block OMIM:619814
Timothy Syndrome
Pulmonary arterial hypertension, Ventricular tachycardia, Atrioventricular block, Bradycardia, Pr... OMIM:601005
Dermatitis, Atopic
Cataract, Keratoconus, Conjunctivitis OMIM:603165
Leber Congenital Amaurosis 2
Cataract, Keratoconus OMIM:204100
Corneal Dystrophy, Thiel-Behnke Type
Corneal scarring, Corneal dystrophy, Juvenile epithelial corneal dystrophy OMIM:602082
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Heart block, Syncope, Supraventricular tachycardia, Sinoatrial block, Sudden cardiac death, Atria... ORPHA:300751
Glycogen Storage Disease Of Heart, Lethal Congenital
Cataract, ST segment elevation, Prolonged QRS complex, Hypotension, Cardiomyopathy, ST segment de... OMIM:261740
Coenzyme Q10 Deficiency, Primary, 5
Bradycardia OMIM:614654
Cardiomyopathy, Familial Hypertrophic, 17
Ventricular tachycardia, Palpitations, Angina pectoris, Hypertrophic cardiomyopathy, Atrial fibri... OMIM:613873
Trimethylaminuria
Hypertension, Tachycardia OMIM:602079
Illum Syndrome
Bradycardia OMIM:208155
Congenital Left Ventricular Aneurysm
Arrhythmia, Abnormal T-wave, Congestive heart failure, Abnormal ST segment ORPHA:1055
Glycogen Storage Disease Xv
ST segment elevation, Ventricular fibrillation, Paroxysmal ventricular tachycardia, T-wave invers... OMIM:613507
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Bradycardia, Atrioventricular block OMIM:614407
Keratoconus Posticus Circumscriptus
Keratoconus, Central posterior corneal opacity OMIM:244600
Idiopathic Congenital Hypothyroidism
Bradycardia ORPHA:95717
Leber Congenital Amaurosis 1
Cataract, Keratoconus OMIM:204000
Combined Oxidative Phosphorylation Deficiency 10
Bradycardia, Hypertrophic cardiomyopathy OMIM:614702
Leber Congenital Amaurosis
Cataract, Keratoconus ORPHA:65
Cardiomyopathy, Dilated, 1Y
Ventricular tachycardia, Left ventricular noncompaction cardiomyopathy, Mitral regurgitation, Con... OMIM:611878
Brugada Syndrome 5
ST segment elevation, Bundle branch block, Ventricular fibrillation OMIM:612838
Leber Congenital Amaurosis 8
Cataract, Keratoconus OMIM:613835
Congenitally Corrected Transposition Of The Great Arteries
Wolff-Parkinson-White syndrome, Tricuspid regurgitation, Sick sinus syndrome, Premature atrial co... ORPHA:216694
Aapoaiv Amyloidosis
Left ventricular outflow tract obstruction, Abnormal cardiac ventricular function, Supravalvular ... ORPHA:439232
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence
Premature ventricular contraction, Syncope, Tachycardia OMIM:192445
Brittle Cornea Syndrome
Pulmonic stenosis, Keratoglobus, Corneal erosion, Corneal scarring, Corneal dystrophy, Decreased ... ORPHA:90354
Tetanus
Bradycardia, Hypertension, Tachycardia ORPHA:3299
Amoebic Keratitis
Cataract, Corneal perforation, Corneal ulceration, Abnormal corneal epithelium morphology, Puncta... ORPHA:67043
Acitretin/Etretinate Embryopathy
Bradycardia, Third degree atrioventricular block, Antecubital pterygium ORPHA:40366
Glutamine Deficiency, Congenital
Bradycardia OMIM:610015
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal
Bradycardia OMIM:614498
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25
Syncope, Palpitations, Second degree atrioventricular block, Sinus bradycardia OMIM:616812
Retinitis Pigmentosa
Cataract, Keratoconus ORPHA:791
Corneal Dystrophy, Posterior Polymorphous, 1
Ectopia pupillae, Abnormal Descemet membrane morphology, Abnormal corneal endothelium morphology,... OMIM:122000
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Bradycardia ORPHA:226313
Familial Thyroid Dyshormonogenesis
Bradycardia ORPHA:95716
Hyperthyroidism, Familial Gestational
Tachycardia OMIM:603373
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature
Sinus bradycardia OMIM:126320
Mitochondrial Complex I Deficiency, Nuclear Type 37
Bradycardia, Pulmonary arterial hypertension OMIM:619272
Arthrogryposis, Distal, Type 5
Keratoglobus, Astigmatism, Keratoconus OMIM:108145
Neuropathy, Hereditary Sensory And Autonomic, Type Vi
Corneal scarring, Hypertension, Bradycardia, Tachycardia, Retinal hemorrhage OMIM:614653
Peripartum Cardiomyopathy
Myocarditis, Pulmonary arterial hypertension, Abnormal T-wave, Mitral regurgitation, Ventricular ... ORPHA:563
Pseudo-Torch Syndrome 2
Bradycardia, Cerebral hemorrhage OMIM:617397
Coronary Arterial Fistula
Abnormal EKG, Pulmonary arterial hypertension, Systolic heart murmur, Continuous heart murmur, Sy... ORPHA:2041
Necrotizing Enterocolitis
Bradycardia, Shock, Hypotension ORPHA:391673
Lipodystrophy, Congenital Generalized, Type 4
Bradycardia, Prolonged QT interval, Atrial fibrillation, Tachycardia OMIM:613327
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Bradycardia OMIM:608800
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Bradycardia, Persistent fetal circulation, Hypertrophic cardiomyopathy OMIM:618775
Glossopharyngeal Neuralgia
Bradycardia, Jaw claudication, Syncope ORPHA:221098
Microtriplication 11Q24.1
Keratoconus ORPHA:289522
D-Glyceric Aciduria
Bradycardia OMIM:220120
Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome
Decreased corneal thickness ORPHA:293967
Combined Oxidative Phosphorylation Defect Type 39
Bradycardia ORPHA:565624
Congenital Disorder Of Glycosylation, Type Im
Bradycardia, Dilated cardiomyopathy OMIM:610768
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Palpitations, Tachycardia OMIM:188580
Sepsis In Premature Infants
Bradycardia, Tachycardia, Hypotension ORPHA:90051
Leber Congenital Amaurosis 9
Keratoconus OMIM:608553
Neuroleptic Malignant Syndrome
Hypotension, Arrhythmia, Hypertension, Pulmonary embolism, Bradycardia, Tachycardia, Hypertensive... ORPHA:94093
Crimean-Congo Hemorrhagic Fever
Myocarditis, Pulmonary arterial hypertension, Diffuse alveolar hemorrhage, Hypotension, Subdural ... ORPHA:99827
Lujo Hemorrhagic Fever
Myocarditis, Hypotension, Subconjunctival hemorrhage, Shock, Bradycardia ORPHA:319213
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy
Tachycardia OMIM:221400
Histiocytoid Cardiomyopathy
Right bundle branch block, Ventricular tachycardia, Congenital aphakia, Wolff-Parkinson-White syn... ORPHA:137675
Encephalitis Lethargica
Bradycardia ORPHA:83600
Malignant Hyperthermia, Susceptibility To, 5
Tachycardia OMIM:601887
Pheochromocytoma--Islet Cell Tumor Syndrome
Cerebral hemorrhage, Congestive heart failure, Positive regitine blocking test, Tachycardia, Epis... OMIM:171420
Proximal Spinal Muscular Atrophy
Bradycardia ORPHA:70
Sheehan Syndrome
Bradycardia, Palpitations, Orthostatic hypotension ORPHA:91355
Complete Atrioventricular Septal Defect
Abnormal EKG, Third heart sound, Systolic heart murmur, Elevated jugular venous pressure, Pulmona... ORPHA:1329
Alagille Syndrome
Abnormal pupil morphology, Hypertension, Corneal dystrophy, Keratoconus, Telangiectasia of the skin ORPHA:52
Hypothyroidism Due To Tsh Receptor Mutations
Bradycardia ORPHA:90673
Arterial Tortuosity Syndrome
Cardiac arrest, Myocarditis, Keratoglobus, Telangiectasia of the skin, Hypertension, Keratoconus,... ORPHA:3342
Optic Atrophy-Intellectual Disability Syndrome
Keratoconus ORPHA:401777
Pheochromocytoma
Cerebral hemorrhage, Congestive heart failure, Positive regitine blocking test, Tachycardia, Deve... OMIM:171300
Abnormal Hair, Joint Laxity, And Developmental Delay
Mitral regurgitation, Sinus bradycardia, Tricuspid regurgitation OMIM:261990
Costello Syndrome
Keratoconus, Pulmonic stenosis, Hypertrophic cardiomyopathy ORPHA:3071
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive
Keratoconus, Conjunctivitis OMIM:242150
Marburg Hemorrhagic Fever
Hypotension, Capillary leak, Conjunctival hyperemia, Subconjunctival hemorrhage, Shock, Hypovolem... ORPHA:99826
Arterial Tortuosity Syndrome
Astigmatism, Ischemic stroke, Hypertension, Aortic regurgitation, Telangiectases of the cheeks, K... OMIM:208050
Warburg-Cinotti Syndrome
Symblepharon, Limbal stem cell deficiency, Corneal neovascularization, Decreased corneal thickness OMIM:618175
Nail-Patella Syndrome
Cataract, Lester's sign, Microphakia, Keratoconus, Microcornea, Antecubital pterygium OMIM:161200
Isolated Thyroid-Stimulating Hormone Deficiency
Bradycardia ORPHA:90674
Lacrimoauriculodentodigital Syndrome
Keratoconjunctivitis, Corneal ulceration, Recurrent corneal erosions, Limbal stem cell deficiency... ORPHA:2363
3-Methylglutaconic Aciduria, Type Viii
Bradycardia, Cataract OMIM:617248
Yellow Fever
Reduced left ventricular ejection fraction, Capillary leak, Supraventricular arrhythmia, Hemateme... ORPHA:99829
Bohring-Opitz Syndrome
Bradycardia ORPHA:97297
Combined Oxidative Phosphorylation Deficiency 39
Sinus bradycardia OMIM:618397
Severe Generalized Junctional Epidermolysis Bullosa
Bradycardia, Abnormal cornea morphology, Dilated cardiomyopathy ORPHA:79404
Angelman Syndrome
Astigmatism, Keratoconus, Iris hypopigmentation ORPHA:72
Gapo Syndrome
Keratoconus ORPHA:2067
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction
Astigmatism, Sinus bradycardia OMIM:619482
Hypothyroidism, Congenital, Nongoitrous, 2
Bradycardia OMIM:218700
Cutis Laxa, Autosomal Recessive, Type Ib
Bradycardia, Pulmonary insufficiency OMIM:614437
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1
Keratoconus, Gastrointestinal hemorrhage, Congestive heart failure, Arterial rupture, Microcornea OMIM:225400
Gapo Syndrome
Megalocornea, Shallow anterior chamber, Keratoconus OMIM:230740
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Bradycardia ORPHA:226307
Hypermobile Ehlers-Danlos Syndrome
Arrhythmia, Keratoconus, Keratoconjunctivitis sicca ORPHA:285
Ehlers-Danlos Syndrome, Vascular Type
Recurrent intrapulmonary hemorrhage, Diffuse alveolar hemorrhage, Keratoconus, Arterial rupture, ... OMIM:130050
Vascular Ehlers-Danlos Syndrome
Telangiectasia of the skin, Abnormal pupil morphology, Hypertension, Transient ischemic attack, K... ORPHA:286
Short Stature And Microcephaly With Genital Anomalies
OMIM:618702

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 Cenpt

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 Cenpt.

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

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
Cenpttm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Cenpttm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Cenptem1(IMPC)Bay Exon Deletion Mice, Tissue

The IMPC Newsletter

Get highlights of the most important data releases, news and events, delivered straight to your email inbox

Subscribe to newsletter