Gene Summary

Name:
sparc/osteonectin, cwcv and kazal-like domains proteoglycan 1
Synonyms:
Ticn1,  testican 1

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
decreased prepulse inhibition Spock1em1(IMPC)H HOM Early adult 7.96×10-06
prolonged RR interval Spock1em1(IMPC)H HOM   Early adult 8.18×10-05
decreased heart rate Spock1em1(IMPC)H HOM   Early adult 7.43×10-05
decreased fasting circulating glucose level Spock1em1(IMPC)H HOM Early adult 1.03×10-08
prolonged RR interval Spock1em1(IMPC)H HOM   Late adult 9.84×10-05
decreased grip strength Spock1em1(IMPC)H HOM Late adult 4.87×10-05

Download data as:  TSV  XLS

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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 Lateral Orientation

8 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

X-ray

XRay Images Whole Body Dorso Ventral

6 Images

X-ray

XRay Images Whole Body Lateral Orientation

6 Images

Human diseases caused by Spock1 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.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Spock1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Atrial Fibrillation, Familial, 18
Palpitations, Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Bradycardia OMIM:617280
Epilepsy, Idiopathic Generalized, Susceptibility To, 18
Bradycardia OMIM:619521
Sinoatrial Node Dysfunction And Deafness
Bradycardia OMIM:614896
Cardiac Conduction Defect
Syncope, Arrhythmia OMIM:115080
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2
Ventricular tachycardia, Syncope, Bradycardia OMIM:611938
Long Qt Syndrome 15
Prolonged QT interval, Prolonged QTc interval, Bradycardia, Cardiac arrest, Ventricular fibrillation OMIM:616249
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia
Arrhythmia, Sick sinus syndrome, Bradycardia OMIM:617182
Familial Short Qt Syndrome
Syncope, Shortened QT interval, Atrial fibrillation, Ventricular arrhythmia, Palpitations, Atriov... ORPHA:51083
Atrial Septal Defect 6
Atrial fibrillation, Bradycardia OMIM:613087
Supravalvular Aortic Stenosis
Supravalvular aortic stenosis, Arrhythmia ORPHA:3193
Progressive Familial Heart Block, Type Ib
Syncope, Prolonged QT interval, Atrioventricular block, Left anterior fascicular block, Bradycard... OMIM:604559
Intellectual Developmental Disorder With Cardiac Arrhythmia
Arrhythmia, Sick sinus syndrome, Bradycardia OMIM:617173
Cataract 46, Juvenile-Onset, With Or Without Arrhythmic Cardiomyopathy
Sudden cardiac death, Arrhythmia OMIM:212500
Long Qt Syndrome 16
T-wave alternans, Prolonged QTc interval, Bradycardia, Second degree atrioventricular block OMIM:618782
Short Qt Syndrome 2
Syncope, Shortened QT interval, Atrial fibrillation, Bradycardia, Sudden cardiac death, Ventricul... OMIM:609621
Cardiomyopathy, Familial Hypertrophic, 11
Hypertrophic cardiomyopathy, Arrhythmia OMIM:612098
His Bundle Tachycardia
Cardiomyopathy, Arrhythmia, Junctional ectopic tachycardia ORPHA:3283
Cardiac Arrhythmia, Ankyrin-B-Related
Syncope, Sinus bradycardia, Prolonged QT interval, Atrial fibrillation, Sudden cardiac death OMIM:600919
Long Qt Syndrome 9
Sinus bradycardia, Prolonged QT interval, Cardiac arrest, Ventricular arrhythmia OMIM:611818
Progressive Familial Heart Block, Type Ii
Syncope, Sinus bradycardia, Atrioventricular block, Complete heart block with narrow QRS complexe... OMIM:140400
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Dilated cardiomyopathy, Premature ventricular contraction, Sinus bradycardia, Atrial fibrillation... OMIM:616117
Chronic Atrial And Intestinal Dysrhythmia
Atrial fibrillation, Mitral regurgitation, Bradycardia, Pulmonic stenosis, Atrial flutter, Sick s... OMIM:616201
Sick Sinus Syndrome 1
Sinus bradycardia, Prolonged QT interval, Ventricular escape rhythm, Atrioventricular block, Abse... OMIM:608567
Long Qt Syndrome 14
T-wave alternans, Sinus bradycardia, Prolonged QT interval, Atrioventricular block, Prolonged QTc... OMIM:616247
Sick Sinus Syndrome 4
Syncope, Abnormal QRS complex, Sinus bradycardia, Abnormal PR interval, Atrioventricular block, A... OMIM:619464
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant
Arrhythmia, Bradycardia, Atrial fibrillation OMIM:614302
Atrial Standstill
Syncope, Abnormal P wave, Atrial standstill, Reduced ejection fraction, Ventricular escape rhythm... ORPHA:1344
Arrhythmogenic Right Ventricular Dysplasia, Familial, 1
Sudden cardiac death, Right ventricular cardiomyopathy, Ventricular arrhythmia OMIM:107970
Brugada Syndrome
Paroxysmal ventricular tachycardia, Syncope, Ventricular arrhythmia, Supraventricular tachycardia... ORPHA:130
Paroxysmal Extreme Pain Disorder
Tachycardia, Bradycardia OMIM:167400
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12
Syncope, Ventricular arrhythmia, Ventricular tachycardia, Right ventricular cardiomyopathy, Prolo... OMIM:611528
Cardiomyopathy, Dilated, 1A
Dilated cardiomyopathy, Third degree atrioventricular block, Sinus bradycardia, Atrial fibrillati... OMIM:115200
Cardiomyopathy, Familial Hypertrophic, 6
Hypertrophic cardiomyopathy, Sinus bradycardia, Atrial fibrillation, Ventricular preexcitation, A... OMIM:600858
Romano-Ward Syndrome
Syncope, Sinus bradycardia, Abnormal T-wave, Ventricular arrhythmia, Torsade de pointes, Prolonge... ORPHA:101016
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3
Paroxysmal ventricular tachycardia, Syncope, Premature ventricular contraction, Prolonged QT inte... OMIM:614021
Arrhythmogenic Right Ventricular Dysplasia, Familial, 3
Right ventricular cardiomyopathy, T-wave inversion in the right precordial leads, Ventricular arr... OMIM:602086
Long Qt Syndrome 10
T-wave alternans, Prolonged QT interval, Atrial fibrillation, Atrioventricular block, Sudden card... OMIM:611819
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy
Dilated cardiomyopathy, Syncope, Atrial standstill, Ventricular tachycardia, Atrioventricular blo... OMIM:604772
Long Qt Syndrome 13
Syncope, Hypertension, Prolonged QT interval, Atrial fibrillation, Atrioventricular block, Tachyc... OMIM:613485
Incessant Infant Ventricular Tachycardia
Abnormal P wave, Histiocytoid cardiomyopathy, Ventricular tachycardia, Supraventricular tachycard... ORPHA:45453
Sudden Cardiac Failure, Infantile
Hypertrophic cardiomyopathy, Congestive heart failure, Bradycardia, Myocarditis OMIM:617222
Myopathy, Myofibrillar, 1
Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Third degree atrioventricular block, Restric... OMIM:601419
Heart-Hand Syndrome, Slovenian Type
Dilated cardiomyopathy, Abnormal atrioventricular conduction, Abnormal electrophysiology of sinoa... ORPHA:168796
Catecholaminergic Polymorphic Ventricular Tachycardia
Sudden cardiac death, Syncope, Ventricular tachycardia ORPHA:3286
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5
Premature ventricular contraction, Ventricular tachycardia, Palpitations, Presyncope, Congestive ... OMIM:604400
Tako-Tsubo Cardiomyopathy
Syncope, Ventricular arrhythmia, Mildly reduced ejection fraction, ST segment depression, Low-out... ORPHA:66529
Wolff-Parkinson-White Syndrome
Syncope, Ventricular preexcitation, Palpitations, Ventricular preexcitation with multiple accesso... OMIM:194200
Ventricular Fibrillation, Paroxysmal Familial, 1
Syncope, Tachycardia, Ventricular fibrillation OMIM:603829
Ventricular Tachycardia, Catecholaminergic Polymorphic, 4
Ventricular tachycardia, Syncope, Cardiac arrest OMIM:614916
Idiopathic Neonatal Atrial Flutter
Abnormal QRS complex, Maternal diabetes, Reduced ejection fraction, Supraventricular tachycardia,... ORPHA:45452
Brugada Syndrome 9
Palpitations, Presyncope, ST segment elevation OMIM:616399
Brugada Syndrome 1
Syncope, Atrial fibrillation, Supraventricular tachycardia with an accessory connection mediated ... OMIM:601144
X-Linked Intellectual Disability-Plagiocephaly Syndrome
Bradycardia ORPHA:2898
Cardiomyopathy, Dilated, 1P
Dilated cardiomyopathy, Reduced systolic function, Congestive heart failure, Ventricular arrhythmia OMIM:609909
Atrial Fibrillation, Familial, 4
Atrial fibrillation, Palpitations, Permanent atrial fibrillation, Premature atrial contractions, ... OMIM:611493
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10
Premature ventricular contraction, Ventricular tachycardia, Palpitations, Sudden cardiac death, R... OMIM:610193
Long Qt Syndrome 11
Syncope, Prolonged QT interval OMIM:611820
Cardiomyopathy, Dilated, 1E
Dilated cardiomyopathy, Syncope, Premature ventricular contraction, Atrial standstill, Atrial fib... OMIM:601154
Long Qt Syndrome 1
Syncope, Prolonged QT interval, Torsade de pointes, Prolonged QTc interval, Sudden cardiac death,... OMIM:192500
Cardiomyopathy, Familial Hypertrophic, 12
Ventricular tachycardia, Paroxysmal atrial fibrillation, Cardiomyopathy, Sudden cardiac death OMIM:612124
Ventricular Tachycardia, Familial
Paroxysmal ventricular tachycardia, Sudden cardiac death, Right bundle branch block OMIM:192605
Cardiomyopathy, Dilated, 1G
Dilated cardiomyopathy, Reduced ejection fraction, Atrial fibrillation, Ventricular tachycardia, ... OMIM:604145
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Hypoglycemia, Bradycardia, Congestive heart failure OMIM:619048
Jervell And Lange-Nielsen Syndrome 1
Sudden cardiac death, Syncope, Torsade de pointes, Prolonged QT interval OMIM:220400
Coenzyme Q10 Deficiency, Primary, 7
Hypertrophic cardiomyopathy, Bradycardia OMIM:616276
Atrial Standstill 2
Atrial standstill, Palpitations, Cardiomyopathy, Bradycardia, Atrial cardiomyopathy, Absent P wav... OMIM:615745
Long Qt Syndrome 2
Syncope, Prolonged QT interval, Torsade de pointes, Sudden cardiac death, Ventricular fibrillation OMIM:613688
Long Qt Syndrome 6
Syncope, Prolonged QT interval, Torsade de pointes, Sudden cardiac death, Ventricular fibrillation OMIM:613693
Long Qt Syndrome 5
Syncope, Prolonged QT interval, Torsade de pointes, Sudden cardiac death, Ventricular fibrillation OMIM:613695
Long Qt Syndrome 3
Syncope, Prolonged QT interval, Torsade de pointes, Sudden cardiac death, Ventricular fibrillation OMIM:603830
Carnitine-Acylcarnitine Translocase Deficiency
Premature ventricular contraction, Hypoglycemia, Ventricular tachycardia, Atrioventricular block,... OMIM:212138
Atrial Fibrillation, Familial, 1
Tachycardia, Atrial fibrillation OMIM:608583
Atrial Fibrillation, Familial, 3
Tachycardia, Atrial fibrillation OMIM:607554
Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness
Premature ventricular contraction, Syncope, Shock, Prolonged QT interval, Polymorphic ventricular... OMIM:615441
Brugada Syndrome 3
Syncope, Shortened QT interval, Atrial fibrillation, Ventricular arrhythmia, J wave, Sudden cardi... OMIM:611875
Atrial Standstill 1
Atrial standstill, Ventricular escape rhythm, Atrial cardiomyopathy, First degree atrioventricula... OMIM:108770
Sick Sinus Syndrome 2
Sinus bradycardia, Atrial fibrillation, Aortic regurgitation, Cardiac arrest, Sick sinus syndrome... OMIM:163800
Hyperinsulinism Due To Hnf1A Deficiency
Syncope, Fasting hypoglycemia, Hypoketotic hypoglycemia, Maternal diabetes, Palpitations, Hyperin... ORPHA:324575
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8
Premature ventricular contraction, Ventricular tachycardia, Congestive heart failure, Sudden card... OMIM:607450
Cardiomyopathy, Dilated, 1O
Dilated cardiomyopathy, Impaired myocardial contractility, Ventricular tachycardia OMIM:608569
Short Qt Syndrome 1
Syncope, Shortened QT interval, Palpitations, Cardiac arrest, Sudden cardiac death, Paroxysmal at... OMIM:609620
Short Qt Syndrome 3
Palpitations, Shortened QT interval, Tachycardia OMIM:609622
Atrial Septal Defect-Atrioventricular Conduction Defects Syndrome
Arrhythmia, Bundle branch block ORPHA:1479
Lipoyltransferase 1 Deficiency
Pulmonary arterial hypertension, Bradycardia OMIM:616299
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Bradycardia OMIM:618815
Brugada Syndrome 6
Cardiac arrest, ST segment elevation, Ventricular fibrillation OMIM:613119
Familial Progressive Cardiac Conduction Defect
Syncope, Heart block, Bundle branch block, Congestive heart failure, Arrhythmia ORPHA:871
Timothy Syndrome
Hypoglycemia, Prolonged QT interval, Bradycardia OMIM:601005
Glycogen Storage Disease Of Heart, Lethal Congenital
Bradycardia, Cardiomyopathy, Neonatal hypoglycemia, Congestive heart failure, Shortened PR interv... OMIM:261740
Ventricular Arrhythmias Due To Cardiac Ryanodine Receptor Calcium Release Deficiency Syndrome
Left ventricular noncompaction cardiomyopathy, Torsade de pointes, Aborted sudden cardiac death, ... OMIM:115000
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome
Ventricular escape rhythm, Bradycardia, Prolonged PR interval, Sick sinus syndrome, Arrhythmia ORPHA:542306
Long Qt Syndrome 12
Syncope, Torsade de pointes, Prolonged QTc interval, Ventricular fibrillation OMIM:612955
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14
Premature ventricular contraction, Ventricular tachycardia, Palpitations, Left bundle branch bloc... OMIM:618920
Congenital Heart Defects, Multiple Types, 3
Atrial fibrillation, Atrioventricular dissociation, Atrioventricular block, Tachycardia, Right bu... OMIM:614954
Brugada Syndrome 8
Ventricular tachycardia, ST segment elevation, Right bundle branch block OMIM:613123
Coenzyme Q10 Deficiency, Primary, 5
Bradycardia OMIM:614654
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hypertrophic cardiomyopathy, Syncope, Fasting hypoglycemia, Hypoketotic hypoglycemia, Maternal di... ORPHA:276580
Cardiomyopathy, Familial Hypertrophic, 10
Hypertrophic cardiomyopathy, Systolic anterior motion of the mitral valve, Ventricular tachycardi... OMIM:608758
Muscular Dystrophy, Becker Type
Abnormal EKG, Arrhythmia, Cardiomyopathy OMIM:300376
Brugada Syndrome 7
Atrial flutter, ST segment elevation OMIM:613120
Infant Acute Respiratory Distress Syndrome
Cardiac arrest, Tachycardia, Bradycardia, Hypotension ORPHA:70587
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Atrioventricular block, Glucose intolerance, Impaired glucose tolerance, Bradycardia OMIM:614407
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13
Ventricular tachycardia, Bundle branch block OMIM:615616
Cardiomyopathy, Familial Hypertrophic, 1
Arrhythmia, Congestive heart failure, Asymmetric septal hypertrophy OMIM:192600
3-Methylglutaconic Aciduria, Type Viii
Bradycardia OMIM:617248
Atrial Fibrillation, Familial, 7
Palpitations, Paroxysmal atrial fibrillation, Prolonged QTc interval, Prolonged PR interval OMIM:612240
Glycogen Storage Disease Xv
Ventricular arrhythmia, Right bundle branch block OMIM:613507
Hyperinsulinism Due To Ucp2 Deficiency
Hypertrophic cardiomyopathy, Syncope, Hypoketotic hypoglycemia, Palpitations, Hyperinsulinemic hy... ORPHA:276556
Cardiomyopathy, Familial Hypertrophic, 16
Ventricular tachycardia, Asymmetric septal hypertrophy, Atrial fibrillation, Left bundle branch b... OMIM:613838
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Fasting hypoglycemia, Hypoketotic hypoglycemia, Hyperinsulinemic hypoglycemia, Tachycardia, React... ORPHA:276608
Wild Type Attr Amyloidosis
Hypertrophic cardiomyopathy, Orthostatic hypotension due to autonomic dysfunction, Bradycardia, M... ORPHA:330001
Brugada Syndrome 5
Ventricular fibrillation, ST segment elevation, Bundle branch block OMIM:612838
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hypertrophic cardiomyopathy, Syncope, Fasting hypoglycemia, Hypoketotic hypoglycemia, Palpitation... ORPHA:276575
Cardiomyopathy, Dilated, 1Y
Dilated cardiomyopathy, Ventricular tachycardia, Congestive heart failure, Mitral regurgitation OMIM:611878
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3
Cardiomyopathy, Bradycardia, Arrhythmia, Diabetes mellitus OMIM:609286
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal
Bradycardia OMIM:614498
Left Ventricular Noncompaction 8
Dilated cardiomyopathy, Mitral regurgitation, Congestive heart failure, Abnormal left ventricular... OMIM:615373
Atrial Septal Defect, Sinus Venosus Type
Left-to-right shunt, Atrial fibrillation, Systolic heart murmur, Cardiac conduction abnormality, ... ORPHA:99105
Illum Syndrome
Bradycardia OMIM:208155
Cardiomyopathy, Dilated, 1Nn
Dilated cardiomyopathy, Mitral regurgitation, Ventricular arrhythmia OMIM:615916
Cardiomyopathy, Familial Hypertrophic, 8
Hypertrophic cardiomyopathy, Palpitations, Restrictive cardiomyopathy, Cardiac arrest, Congestive... OMIM:608751
Idiopathic Congenital Hypothyroidism
Bradycardia ORPHA:95717
Atrial Fibrillation, Familial, 14
Prolonged PR interval, Hypertension, Paroxysmal atrial fibrillation, ST segment elevation OMIM:615378
Cardiomyopathy, Familial Hypertrophic, 13
Hypertrophic cardiomyopathy, Syncope, Atrial fibrillation, ST segment depression, Left anterior f... OMIM:613243
Brugada Syndrome 2
Syncope, Right bundle branch block, First degree atrioventricular block, Ventricular fibrillation... OMIM:611777
Propionic Acidemia
Hypoglycemia, Arrhythmia, Cardiomyopathy ORPHA:35
Trimethylaminuria
Hypertension, Tachycardia OMIM:602079
Congenital Left Ventricular Aneurysm
Abnormal ST segment, Abnormal T-wave, Arrhythmia, Congestive heart failure ORPHA:1055
Arrhythmogenic Right Ventricular Dysplasia, Familial, 6
Sudden cardiac death, Right ventricular cardiomyopathy, Premature ventricular contraction OMIM:604401
Aapoaiv Amyloidosis
Abnormal cardiac ventricular function, Hypertension, Hypertrophic cardiomyopathy, Sinus bradycard... ORPHA:439232
Familial Dilated Cardiomyopathy
Reduced ejection fraction, Atrial fibrillation, Mitral regurgitation, Palpitations, Ventricular a... ORPHA:217607
Ventricular Fibrillation, Paroxysmal Familial, 2
Sudden cardiac death, Premature ventricular contraction, Ventricular fibrillation OMIM:612956
Muscular Dystrophy, Cardiac Type
Abnormal EKG, Cardiomyopathy OMIM:309930
Variegate Porphyria
Tachycardia OMIM:176200
Atrial Tachyarrhythmia With Short Pr Interval
Permanent atrial fibrillation, Paroxysmal atrial fibrillation, Paroxysmal atrial tachycardia, Sho... OMIM:108950
Cardiomyopathy, Familial Hypertrophic, 17
Palpitations, Ventricular tachycardia, Cardiomyopathy OMIM:613873
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25
Palpitations, Syncope, Sinus bradycardia, Atrioventricular block OMIM:616812
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Dilated cardiomyopathy, Syncope, Atrial fibrillation, Ventricular arrhythmia, Cardiac conduction ... ORPHA:300751
Brugada Syndrome 4
Syncope, Shortened QT interval, Atrial fibrillation OMIM:611876
Necrotizing Enterocolitis
Shock, Hyperglycemia, Abnormal glucose homeostasis, Bradycardia, Hypotension ORPHA:391673
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Bradycardia OMIM:608800
Lipodystrophy, Congenital Generalized, Type 4
Prolonged QT interval, Atrial fibrillation, Insulin resistance, Tachycardia, Bradycardia, Hyperin... OMIM:613327
Tetanus
Hypertension, Bradycardia, Tachycardia ORPHA:3299
Hydroxykynureninuria
Tachycardia, Hypotension OMIM:236800
Sinus Node Disease And Myopia
Sick sinus syndrome, Abnormal electrophysiology of sinoatrial node origin OMIM:182190
Pseudo-Torch Syndrome 2
Cerebral hemorrhage, Bradycardia OMIM:617397
Glutamine Deficiency, Congenital
Bradycardia OMIM:610015
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence
Premature ventricular contraction, Syncope, Tachycardia OMIM:192445
Jervell And Lange-Nielsen Syndrome
Syncope, Torsade de pointes, Prolonged QTc interval, Arrhythmia, Ventricular fibrillation ORPHA:90647
Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities
Abnormal EKG, Pulmonic stenosis OMIM:178650
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Bradycardia ORPHA:226313
Congenitally Corrected Transposition Of The Great Arteries
Third degree atrioventricular block, Cardiac conduction abnormality, Abnormal atrioventricular co... ORPHA:216694
Familial Thyroid Dyshormonogenesis
Bradycardia ORPHA:95716
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature
Sinus bradycardia OMIM:126320
Orthostatic Hypotension 2
Orthostatic hypotension, Hypoglycemia OMIM:618182
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9
Syncope, Ventricular arrhythmia, Palpitations, Sudden cardiac death, Right ventricular cardiomyop... OMIM:609040
Peripartum Cardiomyopathy
Dilated cardiomyopathy, Right ventricular failure, Hypertension, Myocarditis, Abnormal T-wave, Re... ORPHA:563
Neuropathy, Hereditary Sensory And Autonomic, Type Vi
Bradycardia, Tachycardia OMIM:614653
Acitretin/Etretinate Embryopathy
Third degree atrioventricular block, Bradycardia ORPHA:40366
Combined Oxidative Phosphorylation Defect Type 39
Bradycardia, Neonatal hypoglycemia ORPHA:565624
Hyperthyroidism, Familial Gestational
Tachycardia OMIM:603373
Mitochondrial Complex I Deficiency, Nuclear Type 37
Pulmonary arterial hypertension, Bradycardia OMIM:619272
Attrv122I Amyloidosis
Hypertrophic cardiomyopathy, Reduced ejection fraction, Angina pectoris, Restrictive cardiomyopat... ORPHA:85451
Ectodermal Dysplasia, Hidrotic, Christianson-Fourie Type
Bradycardia, Paroxysmal supraventricular tachycardia OMIM:601375
Arrhythmogenic Right Ventricular Dysplasia, Familial, 2
Effort-induced polymorphic ventricular tachycardia, Right ventricular cardiomyopathy, Ventricular... OMIM:600996
Glossopharyngeal Neuralgia
Syncope, Jaw claudication, Bradycardia ORPHA:221098
Coronary Arterial Fistula
Syncope, Systolic heart murmur, Continuous heart murmur, Palpitations, Elevated jugular venous pr... ORPHA:2041
Pulmonary Hypertension, Primary, 4
Elevated pulmonary artery pressure, Pulmonary arterial hypertension, Increased pulmonary vascular... OMIM:615344
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Hypertrophic cardiomyopathy, Bradycardia OMIM:618775
Myotonic Dystrophy 2
Palpitations, Insulin insensitivity, Tachycardia, Diabetes mellitus OMIM:602668
Malignant Hyperthermia, Susceptibility To, 5
Tachycardia OMIM:601887
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Palpitations, Tachycardia OMIM:613239
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy
Tachycardia OMIM:221400
Sheehan Syndrome
Orthostatic hypotension, Hypoglycemia, Bradycardia, Palpitations ORPHA:91355
Cardiogenic Shock
Right ventricular failure, Mitral regurgitation, Low pulse pressure, Elevated jugular venous pres... ORPHA:97292
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Palpitations, Tachycardia OMIM:188580
Sepsis In Premature Infants
Tachycardia, Hypotension, Bradycardia ORPHA:90051
Hyperinsulinism Due To Hnf4A Deficiency
Fasting hypoglycemia, Hypoketotic hypoglycemia, Hyperinsulinemic hypoglycemia, Tachycardia, Glyco... ORPHA:263455
Encephalitis Lethargica
Bradycardia ORPHA:83600
Neuroleptic Malignant Syndrome
Hypertension, Hypertensive crisis, Tachycardia, Bradycardia, Pulmonary embolism, Arrhythmia, Hypo... ORPHA:94093
Hypothyroidism Due To Tsh Receptor Mutations
Bradycardia ORPHA:90673
Lujo Hemorrhagic Fever
Myocarditis, Shock, Subconjunctival hemorrhage, Bradycardia, Hypotension ORPHA:319213
Acquired Methemoglobinemia
Palpitations, Syncope, Arrhythmia, Tachycardia ORPHA:464453
Pheochromocytoma--Islet Cell Tumor Syndrome
Episodic hypertension, Cerebral hemorrhage, Tachycardia, Congestive heart failure, Positive regit... OMIM:171420
Tropical Endomyocardial Fibrosis
Abnormal EKG, Abnormal P wave, Reduced ejection fraction, Mitral regurgitation, Decreased QRS vol... ORPHA:75565
Crimean-Congo Hemorrhagic Fever
Myocarditis, Hypertension, Retinal hemorrhage, Subdural hemorrhage, Subconjunctival hemorrhage, H... ORPHA:99827
Proximal Spinal Muscular Atrophy
Bradycardia ORPHA:70
Complete Atrioventricular Septal Defect
Right ventricular failure, Left-to-right shunt, Abnormal P wave, Systolic heart murmur, Atriovent... ORPHA:1329
Paragangliomas 3
Palpitations, Hypertension associated with pheochromocytoma, Tachycardia OMIM:605373
Drug-Induced Autoimmune Hemolytic Anemia
Congestive heart failure, Tachycardia ORPHA:90037
Marburg Hemorrhagic Fever
Shock, Pericarditis, Hypoglycemia, Subconjunctival hemorrhage, Tachycardia, Bradycardia, Hypovole... ORPHA:99826
Fructose-1,6-Bisphosphatase Deficiency
Hypoglycemia, Tachycardia OMIM:229700
Abnormal Hair, Joint Laxity, And Developmental Delay
Sinus bradycardia, Tricuspid regurgitation, Mitral regurgitation OMIM:261990
Isolated Thyroid-Stimulating Hormone Deficiency
Bradycardia ORPHA:90674
Histiocytoid Cardiomyopathy
Hypoglycemia, Atrial fibrillation, Ventricular tachycardia, Atrioventricular block, Supraventricu... ORPHA:137675
Malignant Hyperthermia, Susceptibility To, 1
Tachycardia, Hypotension OMIM:145600
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Dilated cardiomyopathy, Prolonged QT interval, Hypoketotic hypoglycemia, Ventricular tachycardia,... ORPHA:26793
Paragangliomas 1
Palpitations, Hypertension associated with pheochromocytoma, Tachycardia OMIM:168000
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Hypoglycemia, Bradycardia ORPHA:226307
Yellow Fever
Shock, Reduced ejection fraction, Bradycardia, Hematemesis, Supraventricular arrhythmia, Internal... ORPHA:99829
Bohring-Opitz Syndrome
Bradycardia ORPHA:97297
Hypothyroidism, Congenital, Nongoitrous, 2
Bradycardia OMIM:218700
Scorpion Envenomation
Myocarditis, Prominent U wave, Hypertension, Premature ventricular contraction, Cardiac conductio... ORPHA:466677
Cutis Laxa, Autosomal Recessive, Type Ib
Pulmonary insufficiency, Bradycardia OMIM:614437
Hyperthyroidism, Nonautoimmune
Tachycardia OMIM:609152
Pheochromocytoma
Episodic hypertension, Cerebral hemorrhage, Tachycardia, Congestive heart failure, Positive regit... OMIM:171300
Severe Generalized Junctional Epidermolysis Bullosa
Dilated cardiomyopathy, Bradycardia ORPHA:79404
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction
Sinus bradycardia OMIM:619482

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Spock1

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 Spock1.

No publications found that use IMPC mice or data for Spock1.

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MGI Allele Allele Type Produced
Spock1em2(IMPC)H Exon Deletion Mice
Spock1em1(IMPC)H Exon Deletion Mice

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