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
increased cornea thickness Cenptem1(IMPC)Bay HET Late adult 7.81×10-05
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 9.51×10-06

Download data as:  TSV  XLS

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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

X-ray

XRay Images Whole Body Dorso Ventral

8 Images

Eye Morphology

VIP of right eye

17 Images

Eye Morphology

VIP of left eye

17 Images

X-ray

XRay Images Whole Body Lateral Orientation

8 Images

X-ray

XRay Images Skull Lateral Orientation

8 Images

Eye Morphology

VIP of left fundus

17 Images

X-ray

XRay Images Skull Dorso Ventral 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
Sudden cardiac death, Juvenile cataract, Arrhythmia OMIM:212500
Sinoatrial Node Dysfunction And Deafness
Abnormal QRS complex, Increased heart rate variability, Syncope, Bradycardia OMIM:614896
Atrial Fibrillation, Familial, 18
Third degree atrioventricular block, Permanent atrial fibrillation, Palpitations, Bradycardia, Fi... OMIM:617280
Cardiac Conduction Defect
Syncope, Arrhythmia OMIM:115080
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2
Polymorphic ventricular tachycardia, Ventricular tachycardia, Syncope, Bradycardia OMIM:611938
Epilepsy, Idiopathic Generalized, Susceptibility To, 18
Bradycardia OMIM:619521
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
Increased corneal thickness, Corneal dystrophy, Abnormal Descemet membrane morphology, Opacificat... OMIM:217700
Supravalvular Aortic Stenosis
Supravalvular aortic stenosis, Arrhythmia ORPHA:3193
Keratoconus 9
Decreased corneal thickness, Keratoconus OMIM:617928
Atrial Septal Defect 6
Bradycardia, Atrial fibrillation OMIM:613087
Nathalie Syndrome
Cataract, Arrhythmia ORPHA:2663
Familial Short Qt Syndrome
Sudden cardiac death, Ventricular arrhythmia, Syncope, Ventricular fibrillation, Palpitations, At... ORPHA:51083
Corneal Dystrophy, Congenital Stromal
Increased corneal thickness, Band-shaped corneal dystrophy, Corneal erosion, Corneal dystrophy OMIM:610048
His Bundle Tachycardia
Cardiomyopathy, Junctional ectopic tachycardia, Arrhythmia ORPHA:3283
Long Qt Syndrome 15
Polymorphic ventricular tachycardia, Ventricular ectopy, Cardiac arrest, Syncope, Ventricular fib... OMIM:616249
Long Qt Syndrome 5
Sudden cardiac death, Torsade de pointes, Syncope, Ventricular fibrillation, Prolonged QTc interv... OMIM:613695
Short Qt Syndrome 2
Sudden cardiac death, Syncope, Ventricular fibrillation, Shortened QT interval, Bradycardia, Atri... OMIM:609621
Long Qt Syndrome 9
Cardiac arrest, Ventricular arrhythmia, Syncope, Prolonged QT interval, Abnormal U wave, Sinus br... OMIM:611818
Cardiac Arrhythmia, Ankyrin-B-Related
Sudden cardiac death, Syncope, Prolonged QT interval, Atrial fibrillation, Sinus bradycardia OMIM:600919
Megalocornea
Mosaic corneal dystrophy, Megalocornea, Corneal arcus, Iris transillumination defect, Deep anteri... OMIM:309300
Progressive Familial Heart Block, Type Ib
Right bundle branch block, Syncope, Shortened PR interval, Prolonged QT interval, Left anterior f... OMIM:604559
Arrhythmogenic Right Ventricular Dysplasia, Familial, 1
Sudden cardiac death, Ventricular arrhythmia, Right ventricular cardiomyopathy OMIM:107970
Progressive Familial Heart Block, Type Ii
Sudden cardiac death, Complete heart block with narrow QRS complexes, Syncope, Atrioventricular b... OMIM:140400
Corneal Dystrophy, Posterior Polymorphous, 2
Corneal dystrophy, Corneal opacity OMIM:609140
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Right bundle branch block, Cardiac arrest, Paroxysmal supraventricular tachycardia, Congestive he... 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 PR interval... OMIM:612240
Corneal Dystrophy, Endothelial, X-Linked
Corneal dystrophy, Corneal opacity, Band keratopathy OMIM:300779
Sick Sinus Syndrome 1
Ventricular escape rhythm, Prolonged QT interval, Atrioventricular block, Absent P wave, Sick sin... OMIM:608567
Intellectual Developmental Disorder With Cardiac Arrhythmia
Bradycardia, Sick sinus syndrome, Arrhythmia OMIM:617173
Long Qt Syndrome 8
Sudden cardiac death, Syncope, Ventricular fibrillation, Aborted sudden cardiac death, Prolonged ... OMIM:618447
Cornea Plana 2, Autosomal Recessive
Corneal arcus, Corneal opacity, Decreased corneal thickness, Flat cornea, Sclerocornea OMIM:217300
Chronic Atrial And Intestinal Dysrhythmia
Pulmonic stenosis, Ventricular escape rhythm, Mitral regurgitation, Atrial flutter, Bradycardia, ... OMIM:616201
Schnyder Corneal Dystrophy
Corneal dystrophy, Crystalline corneal dystrophy OMIM:121800
Central Cloudy Dystrophy Of Francois
Central corneal dystrophy, Corneal dystrophy OMIM:217600
Sick Sinus Syndrome 4
Sinoatrial block, Syncope, Abnormal PR interval, Abnormal QRS complex, Chronotropic incompetence,... OMIM:619464
Brugada Syndrome
Supraventricular tachycardia, Right bundle branch block, Trifascicular block, Cardiac arrest, Ven... ORPHA:130
Atrial Standstill
Right bundle branch block, Mobitz I atrioventricular block, Ischemic stroke, Reduced left ventric... ORPHA:1344
Corneal Dystrophy, Epithelial Basement Membrane
Corneal dystrophy, Recurrent corneal erosions, Map-dot-fingerprint corneal dystrophy OMIM:121820
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3
Polymorphic ventricular tachycardia, Cardiac arrest, Syncope, Paroxysmal ventricular tachycardia,... OMIM:614021
Cardiomyopathy, Familial Hypertrophic, 6
Wolff-Parkinson-White syndrome, Syncope, Congestive heart failure, Asymmetric septal hypertrophy,... OMIM:600858
Cardiomyopathy, Dilated, 1A
Sudden cardiac death, Third degree atrioventricular block, Ventricular arrhythmia, Dilated cardio... OMIM:115200
Macular Corneal Dystrophy
Hyperopic astigmatism, Corneal crystals, Punctate opacification of the cornea, Decreased corneal ... ORPHA:98969
Ventricular Fibrillation, Paroxysmal Familial, 1
Syncope, Tachycardia, Ventricular fibrillation OMIM:603829
Catecholaminergic Polymorphic Ventricular Tachycardia
Sudden cardiac death, Ventricular tachycardia, Syncope ORPHA:3286
Atrial Fibrillation, Familial, 9
Permanent atrial fibrillation, Syncope, Palpitations, Prolonged QTc interval, Paroxysmal atrial f... OMIM:613980
Congenital Hereditary Endothelial Dystrophy Type Ii
Irregular astigmatism, Abnormal Descemet membrane morphology, Corneal stromal edema, Increased co... ORPHA:293603
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy
Sudden cardiac death, Effort-induced polymorphic ventricular tachycardia, Syncope, Atrial standst... OMIM:604772
Mental Retardation, Keratoconus, Febrile Seizures, And Sinoatrial Block
Keratoconus, Abnormal electrophysiology of sinoatrial node origin, Sinoatrial block OMIM:609438
Atrial Fibrillation, Familial, 15
Sudden cardiac death, Atrial flutter, Supraventricular tachycardia, Atrial fibrillation OMIM:615770
Atrial Fibrillation, Familial, 10
Permanent atrial fibrillation, Tricuspid regurgitation, Atrial flutter, Bradycardia, Paroxysmal a... OMIM:614022
Atrial Fibrillation, Familial, 4
Permanent atrial fibrillation, Premature atrial contractions, Palpitations, Atrial fibrillation, ... OMIM:611493
Ventricular Tachycardia, Catecholaminergic Polymorphic, 4
Sudden cardiac death, Cardiac arrest, Syncope, Premature ventricular contraction, Ventricular tac... OMIM:614916
Heart-Hand Syndrome, Slovenian Type
Supraventricular arrhythmia, Dilated cardiomyopathy, Abnormal electrophysiology of sinoatrial nod... ORPHA:168796
Long Qt Syndrome 13
Torsade de pointes, Pulmonary embolism, Permanent atrial fibrillation, Reduced left ventricular e... OMIM:613485
Brugada Syndrome 1
Sudden cardiac death, Right bundle branch block, Cardiac arrest, Syncope, Supraventricular tachyc... OMIM:601144
Sick Sinus Syndrome 2
Sudden cardiac death, Torsade de pointes, Cardiac arrest, Syncope, Aortic regurgitation, Atrial f... OMIM:163800
Dermoids Of Cornea
Corneal opacity OMIM:304730
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5
Sudden cardiac death, Right ventricular cardiomyopathy, Presyncope, Congestive heart failure, Pre... OMIM:604400
Sudden Cardiac Failure, Infantile
Sudden cardiac death, Congestive heart failure, Hypertrophic cardiomyopathy, Myocarditis, Bradyca... OMIM:617222
Incessant Infant Ventricular Tachycardia
Supraventricular tachycardia, Histiocytoid cardiomyopathy, Cardiac arrest, Wolff-Parkinson-White ... ORPHA:45453
Paroxysmal Extreme Pain Disorder
Bradycardia, Tachycardia OMIM:167400
Long Qt Syndrome 2
Sudden cardiac death, Torsade de pointes, Cardiac arrest, Syncope, Prolonged QT interval, Notched... OMIM:613688
Ventricular Tachycardia, Familial
Sudden cardiac death, Right bundle branch block, Paroxysmal ventricular tachycardia, Cardiomyopathy OMIM:192605
Long Qt Syndrome 6
Sudden cardiac death, Torsade de pointes, Cardiac arrest, Syncope, Prolonged QT interval, Prolong... OMIM:613693
Cardiomyopathy, Dilated, 1P
Ventricular arrhythmia, Reduced systolic function, Congestive heart failure, Dilated cardiomyopathy OMIM:609909
Cardiomyopathy, Familial Hypertrophic, 12
Sudden cardiac death, Reduced left ventricular endsystolic diameter, Hypertrophic cardiomyopathy,... OMIM:612124
Cardiomyopathy, Dilated, 1Ii
Dilated cardiomyopathy, Increased left ventricular end-diastolic volume, Cataract, Ventricular ta... OMIM:615184
Pupillary Membrane, Persistence Of
Megalocornea, Persistent pupillary membrane, Developmental cataract OMIM:178900
Ring Dermoid Of Cornea
Abnormal conjunctiva morphology, Abnormal corneal limbus morphology, Corneal astigmatism, Abnorma... OMIM:180550
Wolff-Parkinson-White Syndrome
Sudden cardiac death, Wolff-Parkinson-White syndrome, Syncope, Ventricular preexcitation with mul... OMIM:194200
Cardiomyopathy, Dilated, 1G
Reduced left ventricular ejection fraction, Congestive heart failure, Dilated cardiomyopathy, Pre... OMIM:604145
Brittle Cornea Syndrome 2
Keratoglobus, Megalocornea, Decreased corneal thickness, Corneal perforation, Flat cornea, Kerato... OMIM:614170
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Dilated cardiomyopathy, Developmental cataract, Hypertrophic cardiomyopathy, Corneal opacity, Bra... OMIM:618815
Cardiomyopathy, Dilated, 1E
Supraventricular tachycardia, Right bundle branch block, Reduced left ventricular ejection fracti... OMIM:601154
Corneal Dystrophy, Fuchs Endothelial, 1
Corneal degeneration, Descemet Membrane Folds, Corneal guttata, Corneal stromal edema, Corneal dy... OMIM:136800
Myopathy, Myofibrillar, 1
Restrictive cardiomyopathy, Third degree atrioventricular block, Dilated cardiomyopathy, Hypertro... OMIM:601419
Romano-Ward Syndrome
Sudden cardiac death, Torsade de pointes, Abnormal T-wave, Ventricular arrhythmia, Syncope, Prolo... ORPHA:101016
Atrial Standstill 1
Atrial standstill, Premature atrial contractions, Atrial cardiomyopathy, Ventricular escape rhyth... OMIM:108770
Cardiomyopathy, Dilated, 1D
Sudden cardiac death, Reduced left ventricular ejection fraction, Congestive heart failure, Dilat... OMIM:601494
Cardiomyopathy, Dilated, 1O
Impaired myocardial contractility, Ventricular tachycardia, Congestive heart failure, Dilated car... OMIM:608569
Leber Congenital Amaurosis 7
Cataract, Keratoconus OMIM:613829
Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness
Polymorphic ventricular tachycardia, Cardiac arrest, Syncope, Shock, Premature ventricular contra... OMIM:615441
Ventricular Arrhythmias Due To Cardiac Ryanodine Receptor Calcium Release Deficiency Syndrome
Sudden cardiac death, Torsade de pointes, Polymorphic and polytopic ventricular extrasystoles, Le... OMIM:115000
Edict Syndrome
Hypoplasia of the iris, Microcornea, Astigmatism, Anterior polar cataract, Keratoconus OMIM:614303
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome
Ventricular escape rhythm, Arrhythmia, Prolonged PR interval, Keratoconus, Bradycardia, Sick sinu... ORPHA:542306
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12
Right ventricular cardiomyopathy, T-wave inversion, Ventricular arrhythmia, Syncope, Ventricular ... OMIM:611528
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant
Bradycardia, Atrial fibrillation OMIM:614302
Long Qt Syndrome 1
Sudden cardiac death, Torsade de pointes, Syncope, Prolonged QT interval, Prolonged QTc interval,... OMIM:192500
Short Qt Syndrome 1
Sudden cardiac death, Cardiac arrest, Syncope, Palpitations, Shortened QT interval, Paroxysmal at... OMIM:609620
Short Qt Syndrome 3
Shortened QT interval, Palpitations, Tachycardia OMIM:609622
Atrial Fibrillation, Familial, 3
Sudden cardiac death, Permanent atrial fibrillation, Syncope, Prolonged QTc interval, Atrial fibr... OMIM:607554
Cataract-Microcornea Syndrome
Microcornea, Cataract, Iris coloboma, Corneal opacity, Corneal dystrophy ORPHA:1377
Brugada Syndrome 9
Presyncope, Palpitations, Prolonged QT interval, ST segment elevation OMIM:616399
Atrial Septal Defect-Atrioventricular Conduction Defects Syndrome
Bundle branch block, Arrhythmia ORPHA:1479
Jervell And Lange-Nielsen Syndrome 1
Sudden cardiac death, Torsade de pointes, Syncope, Prolonged QT interval, Prolonged QTc interval OMIM:220400
Long Qt Syndrome 3
Sudden cardiac death, Torsade de pointes, Syncope, Ventricular flutter, Ventricular tachycardia, ... OMIM:603830
Atrial Standstill 2
Atrial standstill, Atrial cardiomyopathy, Palpitations, Atrial arrhythmia, Absent P wave, Bradyca... OMIM:615745
Left Ventricular Noncompaction 8
Left ventricular diastolic dysfunction, Dilated cardiomyopathy, Congestive heart failure, Mitral ... OMIM:615373
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8
Sudden cardiac death, Right ventricular cardiomyopathy, Congestive heart failure, Premature ventr... OMIM:607450
X-Linked Intellectual Disability-Plagiocephaly Syndrome
Bradycardia ORPHA:2898
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia
Bradycardia, Sick sinus syndrome OMIM:617182
Leber Congenital Amaurosis 6
Cataract, Keratoconus OMIM:613826
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14
Presyncope, Premature ventricular contraction, Ventricular tachycardia, Palpitations, Left bundle... OMIM:618920
Cardiomyopathy, Familial Hypertrophic, 16
Sudden cardiac death, Reduced left ventricular ejection fraction, Syncope, Asymmetric septal hype... OMIM:613838
Long Qt Syndrome 12
Torsade de pointes, Syncope, Prolonged QTc interval, Ventricular fibrillation OMIM:612955
Brugada Syndrome 8
Ventricular tachycardia, Right bundle branch block, ST segment elevation OMIM:613123
Brugada Syndrome 3
Sudden cardiac death, Ventricular arrhythmia, Syncope, J wave, Shortened QT interval, Atrial fibr... OMIM:611875
Long Qt Syndrome 14
T-wave alternans, Cardiac arrest, Prolonged QT interval, 2:1 atrioventricular block, Prolonged QT... OMIM:616247
Short Qt Syndrome 7
Sudden cardiac death, Cardiac arrest, Syncope, Shortened QT interval, Ventricular fibrillation OMIM:620231
Cardiomyopathy, Dilated, 2F
Severely reduced left ventricular ejection fraction, Congestive heart failure, Dilated cardiomyop... OMIM:619747
Familial Progressive Cardiac Conduction Defect
Bundle branch block, Syncope, Congestive heart failure, Heart block, Arrhythmia ORPHA:871
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10
Sudden cardiac death, Right bundle branch block, Right ventricular cardiomyopathy, Ventricular ar... OMIM:610193
Brugada Syndrome 6
Cardiac arrest, Ventricular fibrillation, ST segment elevation OMIM:613119
Jervell And Lange-Nielsen Syndrome 2
Sudden cardiac death, Torsade de pointes, Syncope, Premature ventricular contraction, Prolonged Q... OMIM:612347
Ventricular Fibrillation, Paroxysmal Familial, 2
Sudden cardiac death, Premature ventricular contraction, Ventricular fibrillation OMIM:612956
Cardiomyopathy, Dilated, 2G
Right bundle branch block, Cerebral hemorrhage, Severely reduced left ventricular ejection fracti... OMIM:619897
Long Qt Syndrome 10
Sudden cardiac death, T-wave alternans, Prolonged QT interval, Atrioventricular block, Atrial fib... OMIM:611819
Arrhythmogenic Right Ventricular Dysplasia, Familial, 6
Sudden cardiac death, Premature ventricular contraction, Right ventricular cardiomyopathy OMIM:604401
Cardiomyopathy, Familial Hypertrophic, 14
Left ventricular outflow tract obstruction, Right bundle branch block, Severely reduced left vent... OMIM:613251
Corneal Dystrophy, Fuchs Endothelial, 8
Corneal dystrophy, Corneal guttata OMIM:615523
Tako-Tsubo Cardiomyopathy
Hypotension, T-wave inversion, Ventricular arrhythmia, Cardiogenic shock, Mildly reduced left ven... ORPHA:66529
Congenital Heart Defects, Multiple Types, 3
Right bundle branch block, Atrioventricular dissociation, Atrioventricular block, Tachycardia, At... OMIM:614954
Cardiomyopathy, Familial Hypertrophic, 10
Sudden cardiac death, Supraventricular tachycardia, Systolic anterior motion of the mitral valve,... OMIM:608758
Coenzyme Q10 Deficiency, Primary, 7
Hypertrophic cardiomyopathy, Bradycardia OMIM:616276
Corneal Dystrophy, Fuchs Endothelial, 6
Corneal guttata, Corneal stromal edema, Abnormal Descemet membrane morphology, Keratitis, Corneal... OMIM:613270
Corneal Dystrophy, Fuchs Endothelial, 2
Corneal degeneration, Corneal guttata, Corneal dystrophy OMIM:610158
Brittle Cornea Syndrome 1
Decreased corneal thickness, Keratoconus, Keratoglobus, Abnormal cornea morphology OMIM:229200
Brugada Syndrome 7
Prolonged P wave, Permanent atrial fibrillation, ST segment elevation, Atrial flutter, Paroxysmal... OMIM:613120
Aminoacylase 1 Deficiency
Bradycardia OMIM:609924
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9
Sudden cardiac death, Right ventricular cardiomyopathy, Cardiac arrest, Syncope, Epsilon wave, Pr... OMIM:609040
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Hypertrophic cardiomyopathy, Bradycardia OMIM:616277
Cardiomyopathy, Familial Hypertrophic, 11
Right bundle branch block, Cardiac arrest, Syncope, Angina pectoris, Congestive heart failure, Hy... OMIM:612098
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Bradycardia, Congestive heart failure OMIM:619048
Corneal Dystrophy, Fuchs Endothelial, 3
Corneal opacity, Corneal guttata, Corneal stromal edema OMIM:613267
Infant Acute Respiratory Distress Syndrome
Hypotension, Cardiac arrest, Bradycardia, Tachycardia ORPHA:70587
Cardiomyopathy, Dilated, 1Nn
Reduced left ventricular ejection fraction, Ventricular arrhythmia, Congestive heart failure, Inc... OMIM:615916
Brugada Syndrome 2
Sudden cardiac death, Right bundle branch block, Syncope, Prolonged PR interval, First degree atr... OMIM:611777
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13
Ventricular tachycardia, First degree atrioventricular block, Left bundle branch block OMIM:615616
Carnitine-Acylcarnitine Translocase Deficiency
Hypotension, Cardiac arrest, Premature ventricular contraction, Ventricular tachycardia, Atrioven... OMIM:212138
Atrial Septal Defect, Sinus Venosus Type
Pulmonary arterial hypertension, Systolic heart murmur, Supraventricular tachycardia, Right bundl... ORPHA:99105
Lattice Corneal Dystrophy Type I
Corneal scarring, Central opacification of the cornea, Corneal stromal edema, Lattice corneal dys... ORPHA:98964
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract
Cataract, Aniridia, Microcornea OMIM:106230
Atrial Tachyarrhythmia With Short Pr Interval
Shortened PR interval, Permanent atrial fibrillation, Paroxysmal atrial tachycardia, Paroxysmal a... OMIM:108950
Anterior Segment Dysgenesis 6
Developmental glaucoma, Posterior synechiae of the anterior chamber, Abnormal Descemet membrane m... OMIM:617315
Sinus Node Disease And Myopia
Sick sinus syndrome, Abnormal electrophysiology of sinoatrial node origin OMIM:182190
Wild Type Attr Amyloidosis
Orthostatic hypotension due to autonomic dysfunction, Abnormal EKG, Congestive heart failure, Hyp... ORPHA:330001
Lipoyltransferase 1 Deficiency
Pulmonary arterial hypertension, Bradycardia OMIM:616299
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3
Cardiomyopathy, Cataract, Bradycardia, Arrhythmia OMIM:609286
Leber Congenital Amaurosis 4
Keratoconus OMIM:604393
Cln3 Disease
T-wave inversion, Cataract, Bradycardia ORPHA:228346
Cataract 1, Multiple Types
Posterior subcapsular cataract, Nuclear cataract, Pulverulent cataract, Microcornea OMIM:116200
Developmental And Epileptic Encephalopathy 101
Third degree atrioventricular block, Bradycardia OMIM:619814
Dermatitis, Atopic
Conjunctivitis, Cataract, Keratoconus 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
Sudden cardiac death, Supraventricular tachycardia, Sinoatrial block, Ventricular arrhythmia, Syn... ORPHA:300751
Glycogen Storage Disease Of Heart, Lethal Congenital
Hypotension, T-wave inversion, ST segment depression, Congestive heart failure, Left axis deviati... OMIM:261740
Coenzyme Q10 Deficiency, Primary, 5
Bradycardia OMIM:614654
Cardiomyopathy, Familial Hypertrophic, 17
Angina pectoris, Hypertrophic cardiomyopathy, Ventricular tachycardia, Palpitations, Atrial fibri... OMIM:613873
Trimethylaminuria
Tachycardia, Hypertension OMIM:602079
Illum Syndrome
Bradycardia OMIM:208155
Congenital Left Ventricular Aneurysm
Abnormal T-wave, Abnormal ST segment, Congestive heart failure, Arrhythmia ORPHA:1055
Glycogen Storage Disease Xv
Right bundle branch block, T-wave inversion, Paroxysmal ventricular tachycardia, ST segment eleva... OMIM:613507
Timothy Syndrome
Prolonged QT interval, Bradycardia OMIM:601005
Keratoconus Posticus Circumscriptus
Keratoconus, Central posterior corneal opacity OMIM:244600
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Bradycardia, Atrioventricular block OMIM:614407
Idiopathic Congenital Hypothyroidism
Bradycardia ORPHA:95717
Leber Congenital Amaurosis 1
Cataract, Keratoconus OMIM:204000
Leber Congenital Amaurosis
Cataract, Keratoconus ORPHA:65
Combined Oxidative Phosphorylation Deficiency 10
Hypertrophic cardiomyopathy, Bradycardia OMIM:614702
Cardiomyopathy, Dilated, 1Y
Congestive heart failure, Dilated cardiomyopathy, Increased left ventricular end-diastolic volume... OMIM:611878
Brugada Syndrome 5
Bundle branch block, Ventricular fibrillation, ST segment elevation OMIM:612838
Leber Congenital Amaurosis 8
Cataract, Keratoconus OMIM:613835
Aapoaiv Amyloidosis
Left ventricular outflow tract obstruction, Abnormal cardiac ventricular function, Hypertension, ... ORPHA:439232
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence
Premature ventricular contraction, Syncope, Tachycardia OMIM:192445
Brittle Cornea Syndrome
Keratoglobus, Corneal erosion, Corneal scarring, Decreased corneal thickness, Corneal dystrophy, ... ORPHA:90354
Tetanus
Tachycardia, Bradycardia, Hypertension ORPHA:3299
Congenitally Corrected Transposition Of The Great Arteries
Wolff-Parkinson-White syndrome, Premature atrial contractions, Heart block, Supraventricular tach... ORPHA:216694
Amoebic Keratitis
Abnormal anterior chamber morphology, Abnormal corneal epithelium morphology, Corneal stromal ede... ORPHA:67043
Glutamine Deficiency, Congenital
Bradycardia OMIM:610015
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal
Bradycardia OMIM:614498
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25
Second degree atrioventricular block, Syncope, Palpitations, Sinus bradycardia OMIM:616812
Acitretin/Etretinate Embryopathy
Antecubital pterygium, Third degree atrioventricular block, Bradycardia ORPHA:40366
Retinitis Pigmentosa
Cataract, Keratoconus ORPHA:791
Corneal Dystrophy, Posterior Polymorphous, 1
Anterior synechiae of the anterior chamber, Uveal ectropion, Abnormal Descemet membrane morpholog... OMIM:122000
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
Arthrogryposis, Distal, Type 5
Astigmatism, Keratoglobus, Keratoconus OMIM:108145
Mitochondrial Complex I Deficiency, Nuclear Type 37
Pulmonary arterial hypertension, Bradycardia OMIM:619272
Hyperthyroidism, Familial Gestational
Tachycardia OMIM:603373
Neuropathy, Hereditary Sensory And Autonomic, Type Vi
Retinal hemorrhage, Corneal scarring, Hypertension, Bradycardia, Tachycardia OMIM:614653
Coronary Arterial Fistula
Pulmonary arterial hypertension, Systolic heart murmur, Abnormal EKG, Elevated jugular venous pre... ORPHA:2041
Necrotizing Enterocolitis
Hypotension, Bradycardia, Shock ORPHA:391673
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Hypertrophic cardiomyopathy, Bradycardia, Persistent fetal circulation OMIM:618775
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Bradycardia OMIM:608800
Pseudo-Torch Syndrome 2
Bradycardia, Cerebral hemorrhage OMIM:617397
Peripartum Cardiomyopathy
Pulmonary arterial hypertension, Abnormal T-wave, Reduced left ventricular ejection fraction, Hea... ORPHA:563
Lipodystrophy, Congenital Generalized, Type 4
Prolonged QT interval, Bradycardia, Tachycardia, Atrial fibrillation OMIM:613327
Glossopharyngeal Neuralgia
Jaw claudication, Syncope, Bradycardia ORPHA:221098
D-Glyceric Aciduria
Bradycardia OMIM:220120
Microtriplication 11Q24.1
Keratoconus ORPHA:289522
Malignant Hyperthermia, Susceptibility To, 5
Tachycardia OMIM:601887
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
Hypotension, Bradycardia, Tachycardia ORPHA:90051
Leber Congenital Amaurosis 9
Keratoconus OMIM:608553
Neuroleptic Malignant Syndrome
Hypotension, Pulmonary embolism, Hypertension, Hypertensive crisis, Arrhythmia, Bradycardia, Tach... ORPHA:94093
Crimean-Congo Hemorrhagic Fever
Conjunctivitis, Hypotension, Pulmonary arterial hypertension, Retinal hemorrhage, Myocarditis, He... ORPHA:99827
Lujo Hemorrhagic Fever
Hypotension, Subconjunctival hemorrhage, Shock, Myocarditis, Bradycardia ORPHA:319213
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy
Tachycardia OMIM:221400
Histiocytoid Cardiomyopathy
Supraventricular tachycardia, Megalocornea, Right bundle branch block, Wolff-Parkinson-White synd... ORPHA:137675
Encephalitis Lethargica
Bradycardia ORPHA:83600
Pheochromocytoma--Islet Cell Tumor Syndrome
Positive regitine blocking test, Cerebral hemorrhage, Congestive heart failure, Episodic hyperten... OMIM:171420
Proximal Spinal Muscular Atrophy
Bradycardia ORPHA:70
Complete Atrioventricular Septal Defect
Elevated pulmonary artery pressure, Systolic heart murmur, Right bundle branch block, Third heart... ORPHA:1329
Sheehan Syndrome
Orthostatic hypotension, Bradycardia, Palpitations ORPHA:91355
Alagille Syndrome
Abnormal pupil morphology, Hypertension, Telangiectasia of the skin, Corneal dystrophy, Keratoconus ORPHA:52
Arterial Tortuosity Syndrome
Keratoglobus, Myocarditis, Cardiac arrest, Congestive heart failure, Hypertension, Dilated cardio... ORPHA:3342
Optic Atrophy-Intellectual Disability Syndrome
Keratoconus ORPHA:401777
Hypothyroidism Due To Tsh Receptor Mutations
Bradycardia ORPHA:90673
Pheochromocytoma
Positive regitine blocking test, Cerebral hemorrhage, Congestive heart failure, Developmental cat... OMIM:171300
Abnormal Hair, Joint Laxity, And Developmental Delay
Mitral regurgitation, Sinus bradycardia, Tricuspid regurgitation OMIM:261990
Costello Syndrome
Hypertrophic cardiomyopathy, Keratoconus, Pulmonic stenosis ORPHA:3071
Marburg Hemorrhagic Fever
Hypotension, Hypovolemia, Internal hemorrhage, Shock, Pericarditis, Capillary leak, Subconjunctiv... ORPHA:99826
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive
Conjunctivitis, Keratoconus OMIM:242150
Arterial Tortuosity Syndrome
Ischemic stroke, Hypertension, Aortic regurgitation, Astigmatism, Telangiectases of the cheeks, A... OMIM:208050
Warburg-Cinotti Syndrome
Decreased corneal thickness, Symblepharon, Limbal stem cell deficiency, Corneal neovascularization OMIM:618175
Nail-Patella Syndrome
Lester's sign, Microcornea, Antecubital pterygium, Cataract, Keratoconus, Microphakia OMIM:161200
Isolated Thyroid-Stimulating Hormone Deficiency
Bradycardia ORPHA:90674
Lacrimoauriculodentodigital Syndrome
Keratoconjunctivitis, Limbal stem cell deficiency, Keratoconjunctivitis sicca, Corneal neovascula... ORPHA:2363
3-Methylglutaconic Aciduria, Type Viii
Cataract, Bradycardia OMIM:617248
Yellow Fever
Reduced left ventricular ejection fraction, Supraventricular arrhythmia, Internal hemorrhage, Sho... ORPHA:99829
Bohring-Opitz Syndrome
Bradycardia ORPHA:97297
Severe Generalized Junctional Epidermolysis Bullosa
Abnormal cornea morphology, Bradycardia, Dilated cardiomyopathy ORPHA:79404
Combined Oxidative Phosphorylation Deficiency 39
Sinus bradycardia OMIM:618397
Angelman Syndrome
Iris hypopigmentation, Keratoconus, Astigmatism 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
Congestive heart failure, Microcornea, Gastrointestinal hemorrhage, Arterial rupture, Keratoconus OMIM:225400
Gapo Syndrome
Keratoconus, Shallow anterior chamber, Megalocornea OMIM:230740
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Bradycardia ORPHA:226307
Hypermobile Ehlers-Danlos Syndrome
Keratoconus, Keratoconjunctivitis sicca, Arrhythmia ORPHA:285
Ehlers-Danlos Syndrome, Vascular Type
Hemothorax, Diffuse alveolar hemorrhage, Arterial rupture, Keratoconus, Recurrent intrapulmonary ... OMIM:130050
Vascular Ehlers-Danlos Syndrome
Abnormal pupil morphology, Transient ischemic attack, Hypertension, Internal hemorrhage, Renovasc... 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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