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
preweaning lethality, complete penetrance Cenptem1(IMPC)Bay HOM Early adult 0.00
decreased heart rate Cenptem1(IMPC)Bay HET   Late adult 9.51×10-06
increased cornea thickness Cenptem1(IMPC)Bay HET Late adult 7.81×10-05
preweaning lethality, incomplete penetrance Cenptem1(IMPC)Bay HOM   Early adult 0.00
embryonic lethality prior to organogenesis Cenptem1(IMPC)Bay HOM   E9.5 0.00

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Viewing: all phenotypes
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Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Whole Body Dorso Ventral

8 Images

Eye Morphology

VIP of left fundus

17 Images

X-ray

XRay Images Forepaw

8 Images

X-ray

XRay Images Whole Body Lateral Orientation

8 Images

Eye Morphology

VIP of right fundus

16 Images

Eye Morphology

VIP of left eye

17 Images

Eye Morphology

VIP of right eye

17 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

8 Images

X-ray

XRay Images Skull Lateral Orientation

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
Sudden cardiac death, Juvenile cataract, Arrhythmia OMIM:212500
Sinoatrial Node Dysfunction And Deafness
Bradycardia, Increased heart rate variability, Abnormal QRS complex, Syncope OMIM:614896
Epilepsy, Idiopathic Generalized, Susceptibility To, 18
Bradycardia OMIM:619521
Atrial Fibrillation, Familial, 18
Permanent atrial fibrillation, Palpitations, Third degree atrioventricular block, Bradycardia, Pa... OMIM:617280
Cardiac Conduction Defect
Arrhythmia, Syncope OMIM:115080
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2
Bradycardia, Ventricular tachycardia, Polymorphic ventricular tachycardia, Syncope OMIM:611938
Corneal Degeneration, Band-Shaped Spheroid
Corneal degeneration OMIM:217520
Corneal Dystrophy, Fuchs Endothelial, 8
Corneal dystrophy OMIM:615523
Corneal Dystrophy, Lisch Epithelial
Corneal dystrophy OMIM:300778
Keratoconus 6
Keratoconus OMIM:614623
Keratoconus 5
Keratoconus OMIM:614622
Keratoconus 8
Keratoconus OMIM:614628
Keratoconus 7
Keratoconus OMIM:614629
Keratoconus 1
Keratoconus, Astigmatism OMIM:148300
Supravalvular Aortic Stenosis
Supravalvular aortic stenosis, Arrhythmia ORPHA:3193
Corneal Endothelial Dystrophy
Increased corneal thickness, Opacification of the corneal stroma, Corneal dystrophy, Abnormal Des... OMIM:217700
Atrial Septal Defect 6
Atrial fibrillation, Bradycardia OMIM:613087
Nathalie Syndrome
Cataract, Arrhythmia ORPHA:2663
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia
Sick sinus syndrome, Arrhythmia, Bradycardia OMIM:617182
Cornea Plana 2, Autosomal Recessive
Flat cornea, Corneal arcus, Decreased corneal thickness OMIM:217300
Familial Short Qt Syndrome
Sudden cardiac death, Palpitations, Ventricular arrhythmia, Syncope, Ventricular fibrillation, At... ORPHA:51083
Corneal Dystrophy, Congenital Stromal
Increased corneal thickness, Band-shaped corneal dystrophy, Corneal erosion, Corneal dystrophy OMIM:610048
Long Qt Syndrome 15
Polymorphic ventricular tachycardia, Ventricular bigeminy, Ventricular ectopy, Prolonged QTc inte... OMIM:616249
His Bundle Tachycardia
Junctional ectopic tachycardia, Arrhythmia, Cardiomyopathy ORPHA:3283
Long Qt Syndrome 5
Torsade de pointes, Sudden cardiac death, Prolonged QTc interval, Syncope, Ventricular fibrillati... OMIM:613695
Short Qt Syndrome 2
Sudden cardiac death, Syncope, Ventricular fibrillation, Atrial fibrillation, Shortened QT interv... OMIM:609621
Cardiac Arrhythmia, Ankyrin-B-Related
Sudden cardiac death, Syncope, Atrial fibrillation, Sinus bradycardia, Prolonged QT interval OMIM:600919
Long Qt Syndrome 9
Cardiac arrest, Abnormal U wave, Ventricular arrhythmia, Syncope, Sinus bradycardia, Prolonged QT... OMIM:611818
Megalocornea
Lens subluxation, Mosaic corneal dystrophy, Megalocornea, Astigmatism, Iridodonesis, Cataract, Ir... OMIM:309300
Progressive Familial Heart Block, Type Ib
Left anterior fascicular block, Arrhythmia, Syncope, Shortened PR interval, Right bundle branch b... OMIM:604559
Arrhythmogenic Right Ventricular Dysplasia, Familial, 1
Sudden cardiac death, Ventricular arrhythmia, Right ventricular cardiomyopathy OMIM:107970
Intellectual Developmental Disorder With Cardiac Arrhythmia
Sick sinus syndrome, Arrhythmia, Bradycardia OMIM:617173
Progressive Familial Heart Block, Type Ii
Sudden cardiac death, Syncope, Sinus bradycardia, Complete heart block with narrow QRS complexes,... OMIM:140400
Corneal Dystrophy, Posterior Polymorphous, 2
Corneal opacity, Corneal dystrophy OMIM:609140
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Left anterior fascicular block, Atrial arrhythmia, Premature ventricular contraction, Tachycardia... OMIM:616117
Long Qt Syndrome 16
T-wave alternans, Second degree atrioventricular block, Bradycardia, Prolonged QTc interval OMIM:618782
Atrial Fibrillation, Familial, 7
Permanent atrial fibrillation, Premature atrial contractions, Palpitations, Prolonged QTc interva... OMIM:612240
Corneal Dystrophy, Endothelial, X-Linked
Corneal opacity, Band keratopathy, Corneal dystrophy OMIM:300779
Sick Sinus Syndrome 1
Ventricular escape rhythm, Sick sinus syndrome, Absent P wave, Sinus bradycardia, Prolonged QT in... OMIM:608567
Long Qt Syndrome 8
Sudden cardiac death, Prolonged QTc interval, Syncope, Ventricular fibrillation, Sinus bradycardi... OMIM:618447
Chronic Atrial And Intestinal Dysrhythmia
Pulmonic stenosis, Mitral regurgitation, Sick sinus syndrome, Atrial flutter, Atrial fibrillation... OMIM:616201
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant
Atrial fibrillation, Arrhythmia, Bradycardia OMIM:614302
Schnyder Corneal Dystrophy
Crystalline corneal dystrophy, Corneal dystrophy OMIM:121800
Central Cloudy Dystrophy Of Francois
Corneal dystrophy, Central corneal dystrophy OMIM:217600
Sick Sinus Syndrome 4
Abnormal QT interval, Abnormal QRS complex, Sinoatrial block, Syncope, Chronotropic incompetence,... OMIM:619464
Brugada Syndrome
Supraventricular tachycardia, Trifascicular block, Paroxysmal ventricular tachycardia, Tachycardi... ORPHA:130
Corneal Dystrophy, Epithelial Basement Membrane
Map-dot-fingerprint corneal dystrophy, Recurrent corneal erosions, Corneal dystrophy OMIM:121820
Atrial Standstill
Ventricular escape rhythm, Abnormal P wave, Atrial standstill, Palpitations, Mobitz I atrioventri... ORPHA:1344
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3
Cardiac arrest, Premature ventricular contraction, Polymorphic ventricular tachycardia, Bidirecti... OMIM:614021
Cardiomyopathy, Dilated, 1A
Sudden cardiac death, Ventricular arrhythmia, Third degree atrioventricular block, Dilated cardio... OMIM:115200
Cardiomyopathy, Familial Hypertrophic, 6
Wolff-Parkinson-White syndrome, Prolonged QRS complex, Left bundle branch block, Atrioventricular... OMIM:600858
Edict Syndrome
Microcornea, Astigmatism, Hypoplasia of the iris, Keratoconus, Developmental cataract OMIM:614303
Atrial Fibrillation, Familial, 9
Permanent atrial fibrillation, Palpitations, Prolonged QTc interval, Syncope, Paroxysmal atrial f... OMIM:613980
Ventricular Fibrillation, Paroxysmal Familial, 1
Tachycardia, Ventricular fibrillation, Syncope OMIM:603829
Macular Corneal Dystrophy
Punctate opacification of the cornea, Opacification of the corneal stroma, Recurrent corneal eros... ORPHA:98969
Catecholaminergic Polymorphic Ventricular Tachycardia
Sudden cardiac death, Ventricular tachycardia, Syncope ORPHA:3286
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy
Effort-induced polymorphic ventricular tachycardia, Bidirectional ventricular tachycardia, Atrial... OMIM:604772
Mental Retardation, Keratoconus, Febrile Seizures, And Sinoatrial Block
Abnormal electrophysiology of sinoatrial node origin, Keratoconus, Sinoatrial block OMIM:609438
Congenital Hereditary Endothelial Dystrophy Type Ii
Corneal opacity, Irregular astigmatism, Corneal stromal edema, Abnormal Descemet membrane morphol... ORPHA:293603
Atrial Fibrillation, Familial, 15
Atrial fibrillation, Supraventricular tachycardia, Atrial flutter, Sudden cardiac death OMIM:615770
Atrial Fibrillation, Familial, 10
Permanent atrial fibrillation, Tricuspid regurgitation, Atrial flutter, Paroxysmal atrial fibrill... OMIM:614022
Atrial Fibrillation, Familial, 4
Permanent atrial fibrillation, Premature atrial contractions, Palpitations, Atrial fibrillation, ... OMIM:611493
Heart-Hand Syndrome, Slovenian Type
Supraventricular arrhythmia, Arrhythmia, Abnormal atrioventricular conduction, Abnormal electroph... ORPHA:168796
Brugada Syndrome 1
Sudden cardiac death, Syncope, Supraventricular tachycardia with an accessory connection mediated... OMIM:601144
Ventricular Tachycardia, Catecholaminergic Polymorphic, 4
Premature ventricular contraction, Sudden cardiac death, Syncope, Ventricular tachycardia, Ventri... OMIM:614916
Sick Sinus Syndrome 2
Torsade de pointes, Sudden cardiac death, Syncope, Atrial fibrillation, Prolonged QTc interval, A... OMIM:163800
Sudden Cardiac Failure, Infantile
Sudden cardiac death, Myocarditis, Bradycardia, Hypertrophic cardiomyopathy, Congestive heart fai... OMIM:617222
Arrhythmogenic Right Ventricular Dysplasia, Familial, 3
T-wave inversion in the right precordial leads, Ventricular arrhythmia, Right ventricular cardiom... OMIM:602086
Long Qt Syndrome 13
Torsade de pointes, Permanent atrial fibrillation, Palpitations, Pulmonary embolism, Syncope, Pro... OMIM:613485
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5
Prolonged QRS complex, Premature ventricular contraction, Right ventricular cardiomyopathy, Presy... OMIM:604400
Dermoids Of Cornea
Corneal opacity OMIM:304730
Paroxysmal Extreme Pain Disorder
Tachycardia, Bradycardia OMIM:167400
Cardiomyopathy, Dilated, 1P
Reduced systolic function, Dilated cardiomyopathy, Ventricular arrhythmia, Congestive heart failure OMIM:609909
Long Qt Syndrome 2
Torsade de pointes, Sudden cardiac death, Prolonged QTc interval, Syncope, Prolonged QT interval,... OMIM:613688
Romano-Ward Syndrome
Torsade de pointes, Abnormal T-wave, Sudden cardiac death, Ventricular arrhythmia, Syncope, Prolo... ORPHA:101016
Ventricular Tachycardia, Familial
Sudden cardiac death, Cardiomyopathy, Paroxysmal ventricular tachycardia, Right bundle branch block OMIM:192605
Long Qt Syndrome 6
Torsade de pointes, Sudden cardiac death, Prolonged QTc interval, Syncope, Prolonged QT interval,... OMIM:613693
Incessant Infant Ventricular Tachycardia
Bundle branch block, Wolff-Parkinson-White syndrome, Supraventricular tachycardia, Prolonged QRS ... ORPHA:45453
Pupillary Membrane, Persistence Of
Megalocornea, Developmental cataract, Persistent pupillary membrane OMIM:178900
Wolff-Parkinson-White Syndrome
Wolff-Parkinson-White syndrome, Prolonged QRS complex, Ventricular preexcitation with multiple ac... OMIM:194200
Cardiomyopathy, Dilated, 1Ii
Mitral regurgitation, Increased left ventricular end-diastolic volume, Dilated cardiomyopathy, Ca... OMIM:615184
Brittle Cornea Syndrome 2
Flat cornea, Megalocornea, Keratoconus, Keratoglobus, Sclerocornea, Decreased corneal thickness OMIM:614170
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Corneal opacity, Dilated cardiomyopathy, Developmental cataract, Hypertrophic cardiomyopathy, Bra... OMIM:618815
Cardiomyopathy, Dilated, 1E
Supraventricular tachycardia, Left bundle branch block, Premature atrial contractions, Premature ... OMIM:601154
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome
Ventricular escape rhythm, Arrhythmia, Sick sinus syndrome, Keratoconus, Prolonged PR interval, B... ORPHA:542306
Corneal Dystrophy, Fuchs Endothelial, 1
Corneal stromal edema, Descemet Membrane Folds, Corneal degeneration, Corneal dystrophy, Corneal ... OMIM:136800
Myopathy, Myofibrillar, 1
Restrictive cardiomyopathy, Third degree atrioventricular block, Dilated cardiomyopathy, Hypertro... OMIM:601419
Atrial Standstill 1
Premature atrial contractions, Ventricular escape rhythm, Atrial standstill, Atrial cardiomyopath... OMIM:108770
Cardiomyopathy, Familial Hypertrophic, 12
Sudden cardiac death, Paroxysmal atrial fibrillation, Ventricular tachycardia, Hypertrophic cardi... OMIM:612124
Cardiomyopathy, Dilated, 1G
Premature atrial contractions, Dilated cardiomyopathy, Ventricular tachycardia, Atrial fibrillati... OMIM:604145
Cardiomyopathy, Dilated, 1O
Impaired myocardial contractility, Dilated cardiomyopathy, Ventricular tachycardia, Congestive he... OMIM:608569
Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness
Cardiac arrest, Premature ventricular contraction, Polymorphic ventricular tachycardia, Syncope, ... OMIM:615441
Cardiomyopathy, Dilated, 1D
Sudden cardiac death, Increased left ventricular end-diastolic volume, Dilated cardiomyopathy, At... OMIM:601494
Leber Congenital Amaurosis 7
Keratoconus, Cataract OMIM:613829
Ventricular Arrhythmias Due To Cardiac Ryanodine Receptor Calcium Release Deficiency Syndrome
Torsade de pointes, Left ventricular noncompaction cardiomyopathy, Sudden cardiac death, Polymorp... OMIM:115000
Tako-Tsubo Cardiomyopathy
Angina pectoris, ST segment depression, Mitral regurgitation, Palpitations, Decreased QRS voltage... ORPHA:66529
Atrial Fibrillation, Familial, 3
Permanent atrial fibrillation, Sudden cardiac death, Prolonged QTc interval, Syncope, Atrial fibr... OMIM:607554
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12
Prolonged QRS complex, Right ventricular cardiomyopathy, Ventricular arrhythmia, Syncope, T-wave ... OMIM:611528
Long Qt Syndrome 1
Torsade de pointes, Sudden cardiac death, Prolonged QTc interval, Syncope, Ventricular fibrillati... OMIM:192500
Short Qt Syndrome 1
Cardiac arrest, Palpitations, Sudden cardiac death, Syncope, Paroxysmal atrial fibrillation, Shor... OMIM:609620
Short Qt Syndrome 3
Palpitations, Tachycardia, Shortened QT interval OMIM:609622
Cataract-Microcornea Syndrome
Corneal opacity, Microcornea, Iris coloboma, Cataract, Corneal dystrophy ORPHA:1377
Ring Dermoid Of Cornea
Abnormal conjunctiva morphology, Abnormal cornea morphology, Corneal astigmatism, Conjunctival de... OMIM:180550
Brugada Syndrome 9
Presyncope, Palpitations, ST segment elevation, Prolonged QT interval OMIM:616399
Jervell And Lange-Nielsen Syndrome 1
Torsade de pointes, Sudden cardiac death, Prolonged QTc interval, Syncope, Prolonged QT interval OMIM:220400
Atrial Septal Defect-Atrioventricular Conduction Defects Syndrome
Bundle branch block, Arrhythmia ORPHA:1479
Long Qt Syndrome 3
Torsade de pointes, Ventricular flutter, Sudden cardiac death, Prolonged QTc interval, Syncope, V... OMIM:603830
Atrial Standstill 2
Atrial arrhythmia, Atrial standstill, Palpitations, Absent P wave, Atrial cardiomyopathy, Cardiom... OMIM:615745
X-Linked Intellectual Disability-Plagiocephaly Syndrome
Bradycardia ORPHA:2898
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8
Premature ventricular contraction, Right ventricular cardiomyopathy, Sudden cardiac death, Ventri... OMIM:607450
Left Ventricular Noncompaction 8
Mitral regurgitation, Arrhythmia, Dilated cardiomyopathy, Left ventricular systolic dysfunction, ... OMIM:615373
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14
Left bundle branch block, Premature ventricular contraction, Presyncope, Palpitations, Ventricula... OMIM:618920
Leber Congenital Amaurosis 6
Keratoconus, Cataract OMIM:613826
Long Qt Syndrome 12
Torsade de pointes, Ventricular fibrillation, Syncope, Prolonged QTc interval OMIM:612955
Coenzyme Q10 Deficiency, Primary, 7
Hypertrophic cardiomyopathy, Bradycardia OMIM:616276
Long Qt Syndrome 14
Prolonged QTc interval, Prolonged QT interval, T-wave alternans, Ventricular fibrillation, Cardia... OMIM:616247
Brugada Syndrome 3
J wave, Sudden cardiac death, Ventricular arrhythmia, Syncope, Atrial fibrillation, Shortened QT ... OMIM:611875
Brugada Syndrome 8
ST segment elevation, Ventricular tachycardia, Right bundle branch block OMIM:613123
Cardiomyopathy, Familial Hypertrophic, 16
Left bundle branch block, Sudden cardiac death, Palpitations, Syncope, Ventricular tachycardia, A... OMIM:613838
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10
Epsilon wave, Premature ventricular contraction, Right ventricular cardiomyopathy, Palpitations, ... OMIM:610193
Familial Progressive Cardiac Conduction Defect
Bundle branch block, Arrhythmia, Syncope, Heart block, Congestive heart failure ORPHA:871
Brugada Syndrome 6
Cardiac arrest, Ventricular fibrillation, ST segment elevation OMIM:613119
Jervell And Lange-Nielsen Syndrome 2
Torsade de pointes, Premature ventricular contraction, Sudden cardiac death, Syncope, Prolonged Q... OMIM:612347
3-Methylglutaconic Aciduria, Type Viii
Cataract, Bradycardia OMIM:617248
Long Qt Syndrome 10
Sudden cardiac death, T-wave alternans, Atrial fibrillation, Prolonged QT interval, Atrioventricu... OMIM:611819
Arrhythmogenic Right Ventricular Dysplasia, Familial, 6
Sudden cardiac death, Premature ventricular contraction, Right ventricular cardiomyopathy OMIM:604401
Ventricular Fibrillation, Paroxysmal Familial, 2
Sudden cardiac death, Ventricular fibrillation, Premature ventricular contraction OMIM:612956
Cardiomyopathy, Dilated, 2F
Increased left ventricular end-diastolic volume, Dilated cardiomyopathy, Ventricular fibrillation... OMIM:619747
Glycogen Storage Disease Xv
Ventricular arrhythmia, Right bundle branch block OMIM:613507
Congenital Heart Defects, Multiple Types, 3
Atrioventricular dissociation, Tachycardia, Right bundle branch block, Atrial fibrillation, Atrio... OMIM:614954
Cardiomyopathy, Dilated, 2G
Multifocal atrial tachycardia, Tricuspid regurgitation, Cerebral hemorrhage, Mitral regurgitation... OMIM:619897
Cardiomyopathy, Familial Hypertrophic, 10
Supraventricular tachycardia, Left bundle branch block, Palpitations, Sudden cardiac death, T-wav... OMIM:608758
Cardiomyopathy, Familial Hypertrophic, 14
Left ventricular outflow tract obstruction, Ventricular tachycardia, Right bundle branch block, H... OMIM:613251
Lipoyltransferase 1 Deficiency
Pulmonary arterial hypertension, Bradycardia OMIM:616299
Cardiomyopathy, Familial Hypertrophic, 1
Asymmetric septal hypertrophy, Arrhythmia, Congestive heart failure OMIM:192600
Corneal Dystrophy, Fuchs Endothelial, 6
Keratitis, Abnormal Descemet membrane morphology, Corneal stromal edema, Corneal dystrophy, Corne... OMIM:613270
Corneal Dystrophy, Fuchs Endothelial, 2
Corneal guttata, Corneal dystrophy, Corneal degeneration OMIM:610158
Brittle Cornea Syndrome 1
Abnormal cornea morphology, Keratoconus, Keratoglobus, Decreased corneal thickness OMIM:229200
Brugada Syndrome 7
Permanent atrial fibrillation, Prolonged P wave, ST segment elevation, Atrial flutter, Paroxysmal... OMIM:613120
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9
Prolonged QRS complex, Epsilon wave, Premature ventricular contraction, Right ventricular cardiom... OMIM:609040
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Hypertrophic cardiomyopathy, Bradycardia OMIM:616277
Cardiomyopathy, Familial Hypertrophic, 11
Angina pectoris, Left anterior fascicular block, Left bundle branch block, Palpitations, Syncope,... OMIM:612098
Idiopathic Neonatal Atrial Flutter
Supraventricular tachycardia, Abnormal left ventricular function, Arrhythmia, Abnormal QRS comple... ORPHA:45452
Infant Acute Respiratory Distress Syndrome
Tachycardia, Cardiac arrest, Hypotension, Bradycardia ORPHA:70587
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Bradycardia, Congestive heart failure OMIM:619048
Coenzyme Q10 Deficiency, Primary, 5
Bradycardia OMIM:614654
Brugada Syndrome 2
Sudden cardiac death, Syncope, Ventricular fibrillation, Right bundle branch block, Prolonged PR ... OMIM:611777
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13
Left bundle branch block, Ventricular tachycardia, First degree atrioventricular block OMIM:615616
Atrial Septal Defect, Sinus Venosus Type
Supraventricular arrhythmia, Supraventricular tachycardia, Premature atrial contractions, Atrial ... ORPHA:99105
Carnitine-Acylcarnitine Translocase Deficiency
Premature ventricular contraction, Hypotension, Ventricular tachycardia, Cardiac arrest, Cardiomy... OMIM:212138
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract
Cataract, Microcornea, Aniridia OMIM:106230
Cataract 1, Multiple Types
Nuclear cataract, Posterior subcapsular cataract, Microcornea, Pulverulent cataract, Developmenta... OMIM:116200
Atrial Tachyarrhythmia With Short Pr Interval
Shortened PR interval, Permanent atrial fibrillation, Paroxysmal atrial fibrillation, Paroxysmal ... OMIM:108950
Cardiomyopathy, Dilated, 1Nn
Mitral regurgitation, Abnormal ST segment, Ventricular arrhythmia, Increased left ventricular end... OMIM:615916
Lattice Corneal Dystrophy Type I
Corneal scarring, Abnormal cornea morphology, Corneal opacity, Subepithelial corneal opacities, C... ORPHA:98964
Wild Type Attr Amyloidosis
Orthostatic hypotension due to autonomic dysfunction, Arrhythmia, Myocardial infarction, Abnormal... ORPHA:330001
Anterior Segment Dysgenesis 6
Corneal opacity, Abnormal Descemet membrane morphology, Corneal neovascularization, Developmental... OMIM:617315
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3
Cataract, Cardiomyopathy, Arrhythmia, Bradycardia OMIM:609286
Sinus Node Disease And Myopia
Sick sinus syndrome, Abnormal electrophysiology of sinoatrial node origin OMIM:182190
Leber Congenital Amaurosis 4
Keratoconus OMIM:604393
Developmental And Epileptic Encephalopathy 101
Third degree atrioventricular block, Bradycardia OMIM:619814
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal
Bradycardia OMIM:614498
Dermatitis, Atopic
Keratoconus, Cataract, Conjunctivitis OMIM:603165
Familial Dilated Cardiomyopathy
Left bundle branch block, Mitral regurgitation, Palpitations, Elevated pulmonary artery pressure,... ORPHA:217607
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Supraventricular tachycardia, Abnormal left ventricular function, Sudden cardiac death, Ventricul... ORPHA:300751
Leber Congenital Amaurosis 2
Keratoconus, Cataract OMIM:204100
Corneal Dystrophy, Thiel-Behnke Type
Corneal scarring, Corneal dystrophy, Juvenile epithelial corneal dystrophy OMIM:602082
Cardiomyopathy, Familial Hypertrophic, 17
Angina pectoris, Palpitations, Ventricular tachycardia, Atrial fibrillation, Hypertrophic cardiom... OMIM:613873
Idiopathic Congenital Hypothyroidism
Bradycardia ORPHA:95717
Trimethylaminuria
Hypertension, Tachycardia OMIM:602079
Illum Syndrome
Bradycardia OMIM:208155
Timothy Syndrome
Prolonged QT interval, Bradycardia OMIM:601005
Congenital Left Ventricular Aneurysm
Abnormal ST segment, Abnormal T-wave, Arrhythmia, Congestive heart failure ORPHA:1055
Congenital Corneal Opacities, Cornea Guttata, And Corectopia
Ectopia pupillae, Corneal opacity OMIM:608484
Keratoconus Posticus Circumscriptus
Keratoconus, Central posterior corneal opacity OMIM:244600
Glycogen Storage Disease Of Heart, Lethal Congenital
Hypotension, Shortened PR interval, Bradycardia, Cardiomyopathy, Congestive heart failure OMIM:261740
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Atrioventricular block, Bradycardia OMIM:614407
Cardiomyopathy, Dilated, 1Y
Left ventricular noncompaction cardiomyopathy, Mitral regurgitation, Increased left ventricular e... OMIM:611878
Leber Congenital Amaurosis
Keratoconus, Cataract ORPHA:65
Leber Congenital Amaurosis 1
Keratoconus, Cataract OMIM:204000
Brugada Syndrome 5
Bundle branch block, ST segment elevation, Ventricular fibrillation OMIM:612838
Aapoaiv Amyloidosis
Sinus bradycardia, Left bundle branch block, Left ventricular outflow tract obstruction, Hypertro... ORPHA:439232
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence
Tachycardia, Premature ventricular contraction, Syncope OMIM:192445
Leber Congenital Amaurosis 8
Keratoconus, Cataract OMIM:613835
Congenitally Corrected Transposition Of The Great Arteries
Mobitz I atrioventricular block, Heart murmur, Sick sinus syndrome, Right ventricular cardiomyopa... ORPHA:216694
Tetanus
Hypertension, Tachycardia, Bradycardia ORPHA:3299
Brittle Cornea Syndrome
Corneal scarring, Pulmonic stenosis, Corneal erosion, Corneal dystrophy, Keratoglobus, Decreased ... ORPHA:90354
Amoebic Keratitis
Corneal perforation, Corneal ulceration, Abnormal cornea morphology, Abnormal anterior chamber mo... ORPHA:67043
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Bradycardia OMIM:608800
Hyperthyroidism, Familial Gestational
Tachycardia OMIM:603373
Glutamine Deficiency, Congenital
Bradycardia OMIM:610015
Ebstein Anomaly
Atrial standstill, Sudden cardiac death, Ventricular preexcitation, Right bundle branch block, At... OMIM:224700
Acitretin/Etretinate Embryopathy
Third degree atrioventricular block, Bradycardia, Antecubital pterygium ORPHA:40366
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25
Palpitations, Sinus bradycardia, Second degree atrioventricular block, Syncope OMIM:616812
Corneal Dystrophy, Posterior Polymorphous, 1
Corneal opacity, Band keratopathy, Thinning of Descemet membrane, Abnormal Descemet membrane morp... OMIM:122000
Retinitis Pigmentosa
Keratoconus, Cataract ORPHA:791
Arthrogryposis, Distal, Type 5
Keratoconus, Keratoglobus, Astigmatism OMIM:108145
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Bradycardia ORPHA:226313
Familial Thyroid Dyshormonogenesis
Bradycardia ORPHA:95716
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature
Sinus bradycardia OMIM:126320
Mitochondrial Complex I Deficiency, Nuclear Type 37
Pulmonary arterial hypertension, Bradycardia OMIM:619272
Neuropathy, Hereditary Sensory And Autonomic, Type Vi
Corneal scarring, Tachycardia, Retinal hemorrhage, Hypertension, Bradycardia OMIM:614653
Coronary Arterial Fistula
Angina pectoris, Abnormal left ventricular function, Aortic valve stenosis, Systolic heart murmur... ORPHA:2041
Necrotizing Enterocolitis
Shock, Hypotension, Bradycardia ORPHA:391673
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Hypertrophic cardiomyopathy, Bradycardia, Persistent fetal circulation OMIM:618775
Ectodermal Dysplasia, Hidrotic, Christianson-Fourie Type
Paroxysmal supraventricular tachycardia, Bradycardia OMIM:601375
Peripartum Cardiomyopathy
Left bundle branch block, Abnormal T-wave, Mitral regurgitation, Right ventricular failure, Tachy... ORPHA:563
Pseudo-Torch Syndrome 2
Cerebral hemorrhage, Bradycardia OMIM:617397
Lipodystrophy, Congenital Generalized, Type 4
Atrial fibrillation, Tachycardia, Prolonged QT interval, Bradycardia OMIM:613327
Glossopharyngeal Neuralgia
Jaw claudication, Bradycardia, Syncope ORPHA:221098
Malignant Hyperthermia, Susceptibility To, 5
Tachycardia OMIM:601887
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
Dilated cardiomyopathy, Bradycardia OMIM:610768
Neuroleptic Malignant Syndrome
Tachycardia, Pulmonary embolism, Arrhythmia, Hypotension, Hypertensive crisis, Hypertension, Brad... ORPHA:94093
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Palpitations, Tachycardia OMIM:188580
Sepsis In Premature Infants
Tachycardia, Hypotension, Bradycardia ORPHA:90051
Crimean-Congo Hemorrhagic Fever
Bundle branch block, Melena, Abnormal left ventricular function, Hemoperitoneum, Subdural hemorrh... ORPHA:99827
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy
Tachycardia OMIM:221400
Leber Congenital Amaurosis 9
Keratoconus OMIM:608553
Encephalitis Lethargica
Bradycardia ORPHA:83600
Lujo Hemorrhagic Fever
Hypotension, Myocarditis, Shock, Subconjunctival hemorrhage, Bradycardia ORPHA:319213
Histiocytoid Cardiomyopathy
Congenital aphakia, Corneal opacity, Wolff-Parkinson-White syndrome, Supraventricular tachycardia... ORPHA:137675
Pheochromocytoma--Islet Cell Tumor Syndrome
Positive regitine blocking test, Cerebral hemorrhage, Tachycardia, Episodic hypertension, Congest... OMIM:171420
Myotonic Dystrophy 2
Premature ventricular contraction, Palpitations, Tachycardia, Posterior subcapsular cataract, Iri... OMIM:602668
Proximal Spinal Muscular Atrophy
Bradycardia ORPHA:70
Hypothyroidism Due To Tsh Receptor Mutations
Bradycardia ORPHA:90673
Complete Atrioventricular Septal Defect
Pulmonary venous hypertension, Abnormal P wave, Left-to-right shunt, Systolic heart murmur, Third... ORPHA:1329
Sheehan Syndrome
Orthostatic hypotension, Palpitations, Bradycardia ORPHA:91355
Arterial Tortuosity Syndrome
Telangiectases of the cheeks, Aortic valve stenosis, Aortic regurgitation, Keratoconus, Hypertens... OMIM:208050
Alagille Syndrome
Telangiectasia of the skin, Abnormal pupil morphology, Keratoconus, Corneal dystrophy, Hypertension ORPHA:52
Arterial Tortuosity Syndrome
Telangiectasia of the skin, Myocarditis, Myocardial infarction, Keratoconus, Dilated cardiomyopat... ORPHA:3342
Optic Atrophy-Intellectual Disability Syndrome
Keratoconus ORPHA:401777
Paragangliomas 3
Hypertension associated with pheochromocytoma, Tachycardia, Palpitations OMIM:605373
Pheochromocytoma
Positive regitine blocking test, Cerebral hemorrhage, Tachycardia, Episodic hypertension, Develop... OMIM:171300
Abnormal Hair, Joint Laxity, And Developmental Delay
Mitral regurgitation, Sinus bradycardia, Tricuspid regurgitation OMIM:261990
Costello Syndrome
Pulmonic stenosis, Keratoconus, Hypertrophic cardiomyopathy ORPHA:3071
Marburg Hemorrhagic Fever
Hypovolemia, Tachycardia, Hypotension, Shock, Bradycardia, Internal hemorrhage, Subconjunctival h... ORPHA:99826
Warburg-Cinotti Syndrome
Symblepharon, Corneal neovascularization, Limbal stem cell deficiency, Decreased corneal thickness OMIM:618175
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive
Keratoconus, Conjunctivitis OMIM:242150
Isolated Thyroid-Stimulating Hormone Deficiency
Bradycardia ORPHA:90674
Nail-Patella Syndrome
Microphakia, Microcornea, Keratoconus, Cataract, Lester's sign, Antecubital pterygium OMIM:161200
Lacrimoauriculodentodigital Syndrome
Corneal ulceration, Corneal neovascularization, Keratoconjunctivitis, Recurrent corneal erosions,... ORPHA:2363
Yellow Fever
Supraventricular arrhythmia, Hematemesis, Shock, Reduced left ventricular ejection fraction, Inte... ORPHA:99829
Bohring-Opitz Syndrome
Bradycardia ORPHA:97297
Severe Generalized Junctional Epidermolysis Bullosa
Abnormal cornea morphology, Dilated cardiomyopathy, Bradycardia ORPHA:79404
Angelman Syndrome
Iris hypopigmentation, Keratoconus, Astigmatism ORPHA:72
Gapo Syndrome
Keratoconus ORPHA:2067
Cutis Laxa, Autosomal Recessive, Type Ib
Pulmonary insufficiency, Bradycardia OMIM:614437
Hypothyroidism, Congenital, Nongoitrous, 2
Bradycardia OMIM:218700
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1
Microcornea, Keratoconus, Arterial rupture, Gastrointestinal hemorrhage, Congestive heart failure OMIM:225400
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Bradycardia ORPHA:226307
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction
Sinus bradycardia, Astigmatism OMIM:619482
Gapo Syndrome
Keratoconus OMIM:230740
Hypermobile Ehlers-Danlos Syndrome
Keratoconjunctivitis sicca, Keratoconus, Arrhythmia ORPHA:285
Ehlers-Danlos Syndrome, Vascular Type
Hemothorax, Recurrent intrapulmonary hemorrhage, Keratoconus, Arterial rupture, Diffuse alveolar ... OMIM:130050
Vascular Ehlers-Danlos Syndrome
Telangiectasia of the skin, Abnormal pupil morphology, Renovascular hypertension, Keratoconus, In... 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.

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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

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