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Gene: Atp10a MGI:1330809

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Gene Summary

Name:
ATPase, class V, type 10A
Synonyms:
Atp10c,  pfatp

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
abnormal ovary morphology Atp10aem1(IMPC)Tcp HOM Early adult 0.00
shortened QT interval Atp10aem1(IMPC)Tcp HOM Early adult 5.58×10-05

Download data as:  TSV  XLS

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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 Skull Dorso Ventral Orientation

10 Images

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X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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Gross Pathology and Tissue Collection

Images

8 Images

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X-ray

XRay Images Skull Lateral Orientation

10 Images

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Human diseases caused by Atp10a 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 Atp10a by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
ORPHA:411515

The table below shows human diseases predicted to be associated to Atp10a by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Brugada Syndrome 3
Atrial fibrillation, J wave, Sudden cardiac death, Shortened QT interval, Syncope, Ventricular ar... OMIM:611875
Short Qt Syndrome 1
Paroxysmal atrial fibrillation, Cardiac arrest, Sudden cardiac death, Shortened QT interval, Sync... OMIM:609620
Brugada Syndrome 4
Shortened QT interval, Syncope, Atrial fibrillation OMIM:611876
Short Qt Syndrome 3
Shortened QT interval, Tachycardia, Palpitations OMIM:609622
Short Qt Syndrome 7
Cardiac arrest, Sudden cardiac death, Shortened QT interval, Syncope, Ventricular fibrillation OMIM:620231
Short Qt Syndrome 2
Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Syncope, Bradycardia, Ventricul... OMIM:609621
Familial Short Qt Syndrome
Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Atrioventricular block, Syncope... ORPHA:51083
Long Qt Syndrome 11
Syncope, Prolonged QTc interval OMIM:611820
Jervell And Lange-Nielsen Syndrome 1
Prolonged QT interval, Sudden cardiac death, Syncope, Torsade de pointes, Prolonged QTc interval OMIM:220400
Long Qt Syndrome 10
Prolonged QT interval, Atrial fibrillation, Sudden cardiac death, T-wave alternans, Atrioventricu... OMIM:611819
Long Qt Syndrome 2
Prolonged QT interval, Cardiac arrest, Sudden cardiac death, Syncope, Torsade de pointes, Prolong... OMIM:613688
Brugada Syndrome 9
Prolonged QT interval, ST segment elevation, Palpitations, Presyncope OMIM:616399
Atrial Fibrillation, Familial, 9
Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Syncope, Palpitations, Prolonged Q... OMIM:613980
Long Qt Syndrome 1
Prolonged QT interval, Sudden cardiac death, Syncope, Torsade de pointes, Prolonged QTc interval,... OMIM:192500
Long Qt Syndrome 6
Prolonged QT interval, Cardiac arrest, Sudden cardiac death, Syncope, Torsade de pointes, Prolong... OMIM:613693
Long Qt Syndrome 14
Prolonged QT interval, 2:1 atrioventricular block, Cardiac arrest, T-wave alternans, Prolonged QT... OMIM:616247
Atrial Fibrillation, Familial, 3
Paroxysmal atrial fibrillation, Atrial fibrillation, Sudden cardiac death, Permanent atrial fibri... OMIM:607554
Long Qt Syndrome 13
Cardiac arrest, Pulmonary embolism, Congestive heart failure, Permanent atrial fibrillation, Atri... OMIM:613485
Long Qt Syndrome 9
Prolonged QT interval, Cardiac arrest, Sinus bradycardia, Syncope, Abnormal U wave, Ventricular a... OMIM:611818
Sick Sinus Syndrome 1
Prolonged QT interval, Ventricular escape rhythm, Absent P wave, Atrioventricular block, Sinus br... OMIM:608567
Long Qt Syndrome 12
Syncope, Prolonged QTc interval, Ventricular fibrillation, Torsade de pointes OMIM:612955
Cardiac Arrhythmia, Ankyrin-B-Related
Prolonged QT interval, Atrial fibrillation, Sudden cardiac death, Sinus bradycardia, Syncope OMIM:600919
Jervell And Lange-Nielsen Syndrome 2
Prolonged QT interval, Sudden cardiac death, Premature ventricular contraction, Syncope, Torsade ... OMIM:612347
Progressive Familial Heart Block, Type Ib
Prolonged QT interval, Shortened PR interval, Atrioventricular block, Right bundle branch block, ... OMIM:604559
Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness
Prolonged QT interval, Shock, Cardiac arrest, Polymorphic ventricular tachycardia, Premature vent... OMIM:615441
Sick Sinus Syndrome 4
Sinoatrial block, Chronotropic incompetence, Abnormal QT interval, Paroxysmal atrial fibrillation... OMIM:619464
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3
Prolonged QT interval, Bidirectional ventricular tachycardia, Cardiac arrest, Polymorphic ventric... OMIM:614021
Atrial Fibrillation, Familial, 11
Reduced left ventricular ejection fraction, Prolonged P wave, Atrial fibrillation, Prolonged QRS ... OMIM:614049
Long Qt Syndrome 5
Sudden cardiac death, Sinus bradycardia, Syncope, Torsade de pointes, Prolonged QTc interval, Ven... OMIM:613695
Sinoatrial Node Dysfunction And Deafness
Increased heart rate variability, Abnormal QRS complex, Syncope, Bradycardia OMIM:614896
Long Qt Syndrome 16
Second degree atrioventricular block, Prolonged QTc interval, T-wave alternans, Bradycardia OMIM:618782
Atrial Fibrillation, Familial, 7
Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Prolonged QTc interval, Sinus brad... OMIM:612240
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Atrial flutter, Tachycardia, Atrial fibrillation, Cardiac arrest, Congestive heart failure, Dilat... OMIM:616117
Long Qt Syndrome 8
Sudden cardiac death, Sinus bradycardia, Syncope, Aborted sudden cardiac death, Prolonged QTc int... OMIM:618447
Arrhythmogenic Right Ventricular Dysplasia, Familial, 3
T-wave inversion in the right precordial leads, Right ventricular cardiomyopathy, Ventricular arr... OMIM:602086
Arrhythmogenic Right Ventricular Dysplasia, Familial, 4
T-wave inversion in the right precordial leads, Right ventricular cardiomyopathy, Ventricular arr... OMIM:602087
Long Qt Syndrome 15
Ventricular ectopy, 2:1 atrioventricular block, Cardiac arrest, Polymorphic ventricular tachycard... OMIM:616249
Long Qt Syndrome 3
Ventricular flutter, Sudden cardiac death, Ventricular tachycardia, Syncope, Torsade de pointes, ... OMIM:603830
Incessant Infant Ventricular Tachycardia
Wolff-Parkinson-White syndrome, Bundle branch block, Prolonged QRS complex, Cardiac arrest, Conge... ORPHA:45453
46,Xx Testicular Difference Of Sex Development
Ambiguous genitalia, Male hypogonadism, Decreased testicular size, Polycystic ovaries ORPHA:393
Brugada Syndrome
Tachycardia, Cardiac arrest, First degree atrioventricular block, Trifascicular block, ST segment... ORPHA:130
Uterine Anomalies
Bicornuate uterus, Abnormality of the uterus OMIM:192000
Wolff-Parkinson-White Syndrome
Wolff-Parkinson-White syndrome, Atrial flutter, Paroxysmal atrial fibrillation, Prolonged QRS com... OMIM:194200
Cardiomyopathy, Dilated, 1D
Prolonged QT interval, Increased left ventricular end-diastolic volume, Atrial fibrillation, Sudd... OMIM:601494
Sick Sinus Syndrome 2
Aortic regurgitation, Paroxysmal atrial fibrillation, Atrial fibrillation, Cardiac arrest, Sudden... OMIM:163800
Brugada Syndrome 7
Atrial flutter, Paroxysmal atrial fibrillation, ST segment elevation, Permanent atrial fibrillati... OMIM:613120
Cardiomyopathy, Familial Hypertrophic, 26
Atrial fibrillation, Sudden cardiac death, Congestive heart failure, Permanent atrial fibrillatio... OMIM:617047
Romano-Ward Syndrome
Sudden cardiac death, Sinus bradycardia, Syncope, Torsade de pointes, Abnormal T-wave, Prolonged ... ORPHA:101016
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5
Right ventricular cardiomyopathy, Prolonged QRS complex, Sudden cardiac death, Congestive heart f... OMIM:604400
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12
Right ventricular cardiomyopathy, Prolonged QRS complex, Ventricular tachycardia, T-wave inversio... OMIM:611528
Gonadoblastoma
Female external genitalia in individual with 46,XY karyotype, Gonadal calcification, Gonadal dysg... ORPHA:206484
Brugada Syndrome 6
ST segment elevation, Ventricular fibrillation, Cardiac arrest OMIM:613119
Jervell And Lange-Nielsen Syndrome
Syncope, Torsade de pointes, Arrhythmia, Prolonged QTc interval, Ventricular fibrillation ORPHA:90647
Brugada Syndrome 8
Right bundle branch block, ST segment elevation, Ventricular tachycardia OMIM:613123
Cardiomyopathy, Dilated, 1Nn
Increased left ventricular end-diastolic volume, Congestive heart failure, Abnormal ST segment, D... OMIM:615916
Idiopathic Neonatal Atrial Flutter
Abnormal EKG, Abnormal atrioventricular conduction, Abnormal left ventricular function, Reduced l... ORPHA:45452
Brugada Syndrome 5
ST segment elevation, Bundle branch block, Ventricular fibrillation OMIM:612838
Nathalie Syndrome
Abnormal EKG OMIM:255990
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10
Right ventricular cardiomyopathy, Sudden cardiac death, Ventricular tachycardia, Premature ventri... OMIM:610193
Cardiomyopathy, Familial Hypertrophic, 6
Wolff-Parkinson-White syndrome, Atrial fibrillation, Prolonged QRS complex, Congestive heart fail... OMIM:600858
Cardiomyopathy, Familial Hypertrophic, 27
Prolonged QT interval, Tricuspid regurgitation, Cardiac arrest, Left ventricular diastolic dysfun... OMIM:618052
Muscular Dystrophy, Becker Type
Abnormal EKG, Arrhythmia, Cardiomyopathy OMIM:300376
Atrial Fibrillation, Familial, 14
ST segment elevation, Paroxysmal atrial fibrillation, Hypertension, Prolonged PR interval OMIM:615378
46,Xy Complete Gonadal Dysgenesis
Male pseudohermaphroditism, Hypogonadotropic hypogonadism, Testicular dysgenesis, Polycystic ovaries ORPHA:242
Muscular Dystrophy, Cardiac Type
Abnormal EKG, Cardiomyopathy OMIM:309930
Tako-Tsubo Cardiomyopathy
Prolonged QT interval, Atrial fibrillation, Mildly reduced left ventricular ejection fraction, An... ORPHA:66529
Hepatic Adenomas, Familial
Polycystic ovaries OMIM:142330
Congenital Left Ventricular Aneurysm
Congestive heart failure, Arrhythmia, Abnormal ST segment, Abnormal T-wave ORPHA:1055
Congenital Heart Block
First degree atrioventricular block, Gallop rhythm, Congestive heart failure, Atrioventricular bl... ORPHA:60041
Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities
Abnormal EKG, Pulmonic stenosis OMIM:178650
Hyperparathyroidism-Jaw Tumor Syndrome
Pancreatic adenocarcinoma, Testicular neoplasm, Shortened QT interval, Primary hyperparathyroidis... ORPHA:99880
3-Methylglutaconic Aciduria, Type V
Prolonged QT interval, Noncompaction cardiomyopathy, Hypospadias, Sudden cardiac death, Cryptorch... OMIM:610198
Parathyroid Carcinoma
Pancreatic adenocarcinoma, Testicular neoplasm, Shortened QT interval, Primary hyperparathyroidis... ORPHA:143
Multifocal Atrial Tachycardia
Atrial flutter, Tachycardia, Atrial fibrillation, Cryptorchidism, Effort-induced polymorphic vent... ORPHA:3282
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Abnormality of the ovary, Hypogonadism, Decreased testicular size ORPHA:1875
Atrial Standstill
Ventricular escape rhythm, Cardiac conduction abnormality, Atrial standstill, Congestive heart fa... ORPHA:1344
Cardiomyopathy, Familial Hypertrophic, 8
Cardiac arrest, Sudden cardiac death, Congestive heart failure, T-wave inversion, Reduced left ve... OMIM:608751
Female Infertility Due To Oocyte Meiotic Arrest
Abnormal spermatogenesis, Polycystic ovaries ORPHA:488191
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9
Right ventricular cardiomyopathy, Prolonged QRS complex, Cardiac arrest, Sudden cardiac death, Ve... OMIM:609040
Brugada Syndrome 2
Sudden cardiac death, First degree atrioventricular block, Right bundle branch block, Syncope, Pr... OMIM:611777
Cardiomyopathy, Familial Hypertrophic, 10
Sudden cardiac death, Ventricular tachycardia, Left bundle branch block, Asymmetric septal hypert... OMIM:608758
Glycogen Storage Disease Xv
ST segment elevation, Right bundle branch block, Paroxysmal ventricular tachycardia, T-wave inver... OMIM:613507
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome
Precocious puberty, Dilated cardiomyopathy, Hypergonadotropic hypogonadism, Polycystic ovaries ORPHA:2229
Multiple Endocrine Neoplasia Type 1
Neoplasm of the pancreas, Pituitary null cell adenoma, Elevated circulating growth hormone concen... ORPHA:652
Hirschsprung Disease-Ganglioneuroblastoma Syndrome
Prolonged QT interval, Arrhythmia ORPHA:2151
Cardiomyopathy, Familial Hypertrophic, 13
Atrial fibrillation, Angina pectoris, Concentric hypertrophic cardiomyopathy, Right bundle branch... OMIM:613243
Atrial Tachyarrhythmia With Short Pr Interval
Paroxysmal atrial tachycardia, Permanent atrial fibrillation, Paroxysmal atrial fibrillation, Sho... OMIM:108950
46,Xx Ovotesticular Difference Of Sex Development
Bifid scrotum, Abnormal male internal genitalia morphology, Hypoplasia of penis, Small scrotum, H... ORPHA:2138
Cardiomyopathy, Familial Restrictive, 3
Abnormal ST segment, Reduced left ventricular ejection fraction, Hypotension, Left axis deviation... OMIM:612422
46,Xx Difference Of Sex Development-Skeletal Anomalies Syndrome
Fused labia minora, Ambiguous genitalia, female, Abnormality of the uterus, Abnormal vagina morph... ORPHA:2975
Myofibrillar Myopathy 10
Prolonged QTc interval, Increased QRS voltage OMIM:619040
Tetragametic Chimerism
Bifid scrotum, True hermaphroditism, Ovotestis, Cryptorchidism, Perineal hypospadias, Abnormality... ORPHA:199310
Andersen-Tawil Syndrome
Prolonged QT interval, Bidirectional ventricular ectopy, Polymorphic ventricular tachycardia, Dil... ORPHA:37553
Timothy Syndrome
Prolonged QT interval, Ventricular tachycardia, Atrioventricular block, Bradycardia, Pulmonary ar... OMIM:601005
Cirrhotic Cardiomyopathy
Prolonged QT interval, Elevated jugular venous pressure, Left ventricular diastolic dysfunction, ... ORPHA:57777
Familial Hyperaldosteronism Type Iii
Prolonged QT interval, Adrenal hyperplasia, Epistaxis, Intracranial hemorrhage, Hypertension ORPHA:251274
Acquired Aneurysmal Subarachnoid Hemorrhage
Myocardial infarction, Cerebral hemorrhage, Congestive heart failure, Hypertension, Syncope, Isch... ORPHA:90065
Neonatal Lupus Erythematosus
Prolonged QT interval, Heart block, Dilated cardiomyopathy, Atrioventricular block, Abnormal elec... ORPHA:398124
45,X/46,Xy Mixed Gonadal Dysgenesis
Bifid scrotum, Bilateral cryptorchidism, Epispadias, Ambiguous genitalia, female, Ambiguous genit... ORPHA:1772
Ovarian Fibroma
Gonadal calcification, Ovarian fibroma, Abnormality of the ovary ORPHA:314473
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 14
Prolonged QT interval OMIM:615351
Attrv122I Amyloidosis
Abnormal EKG, Angina pectoris, Abnormal atrioventricular conduction, Congestive heart failure, Hy... ORPHA:85451
Autoimmune Hypoparathyroidism
Abnormal left ventricular function, Prolonged QT interval, Ventricular arrhythmia, Autoimmune hyp... ORPHA:36913
Aromatase Deficiency
Ovarian cyst, Hypergonadotropic hypogonadism, Female pseudohermaphroditism OMIM:613546
Ovarian Fibrothecoma
Gonadal calcification, Ovarian fibroma, Abnormality of the ovary, Abnormal endometrium morphology ORPHA:314478
Cardiogenic Shock
Abnormal EKG, Increased pulmonary capillary wedge pressure, Cardiac arrest, Myocardial infarction... ORPHA:97292
Burkitt Lymphoma
Gastrointestinal hemorrhage, Abnormality of the ovary ORPHA:543
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Prolonged QT interval, Tachycardia, Dilated cardiomyopathy, Ventricular tachycardia, Atrioventric... ORPHA:26793
Coronary Arterial Fistula
Abnormal EKG, Elevated jugular venous pressure, Continuous heart murmur, Tachycardia, Angina pect... ORPHA:2041
Pseudohypoparathyroidism Type 2
Prolonged QT interval, Pseudohypoparathyroidism ORPHA:94090
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration
Cardiac arrest, Premature thelarche, Ventricular tachycardia, Torsade de pointes, Hypertrophic ca... OMIM:616878
Dilated Cardiomyopathy With Ataxia
Prolonged QT interval, Hypoplasia of penis, Bilateral cryptorchidism, Dilated cardiomyopathy, Per... ORPHA:66634
Tropical Endomyocardial Fibrosis
Prolonged QRS complex, Restrictive cardiomyopathy, Atrioventricular block, Left bundle branch blo... ORPHA:75565
Satoyoshi Syndrome
Hypoplasia of the uterus, Hypoplasia of the ovary, Abnormality of the ovary, Abnormality of the u... ORPHA:3130
Peripartum Cardiomyopathy
Tachycardia, Right ventricular failure, Cardiogenic shock, Congestive heart failure, Dilated card... ORPHA:563
Andersen Cardiodysrhythmic Periodic Paralysis
Prolonged QT interval, Bidirectional ventricular ectopy, Syncope, Palpitations, Prominent U wave,... OMIM:170390
Atrial Standstill 2
Atrial cardiomyopathy, Absent P wave, Atrial standstill, Cardiomyopathy, Bradycardia, Palpitation... OMIM:615745
Atrial Septal Defect, Ostium Primum Type
Atrial flutter, Tricuspid regurgitation, Abnormally loud pulmonic component of the second heart s... ORPHA:99106
Fraser-Like Syndrome
Ovarian cyst OMIM:229230
Fowler Urethral Sphincter Dysfunction Syndrome
Abnormality of the ovary, Polycystic ovaries ORPHA:2795
Complete Atrioventricular Septal Defect
Abnormal EKG, Tachycardia, Left-to-right shunt, Right ventricular failure, Third heart sound, Con... ORPHA:1329
Cocaine Intoxication
Prolonged QT interval, Tachycardia, Prolonged QRS complex, Myocardial infarction, Diffuse alveola... ORPHA:90068
Early-Onset Cerebellar Ataxia With Retained Tendon Reflexes
Abnormal EKG, Cardiomyopathy ORPHA:1177
Drug-Induced Lupus Erythematosus
Pericarditis, Prolonged QTc interval ORPHA:231111
Wild Type Attr Amyloidosis
Abnormal EKG, Myocardial infarction, Congestive heart failure, Bradycardia, Arrhythmia, Hypertrop... ORPHA:330001
Lipodystrophy, Congenital Generalized, Type 4
Prolonged QT interval, Tachycardia, Atrial fibrillation, Bradycardia OMIM:613327
Rett Syndrome
Abnormal T-wave, Prolonged QTc interval OMIM:312750
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome
Prolonged QT interval, Abnormal EKG, Arrhythmia ORPHA:480864
Ethylene Glycol Poisoning
Prolonged QT interval, Shock, Tachycardia, Atrial fibrillation, Congestive heart failure, Hyperte... ORPHA:31826
Atrial Septal Defect, Ostium Secundum Type
Bundle branch block, Atrial flutter, Tricuspid regurgitation, Left-to-right shunt, Atrial fibrill... ORPHA:99103
Congenital Aortic Valve Stenosis
Angina pectoris, Sudden cardiac death, Increased QRS voltage, Heart murmur, Abnormal left ventric... ORPHA:3093
Müllerian Aplasia And Hyperandrogenism
Hypoplasia of the uterus, Abnormal vagina morphology, Abnormality of the ovary ORPHA:247768
Congenital Factor Vii Deficiency
Gastrointestinal hemorrhage, Epistaxis, Intracranial hemorrhage, Ovarian cyst, Joint hemorrhage ORPHA:327
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Prolonged QT interval, Hypertrophic cardiomyopathy, Dilated cardiomyopathy ORPHA:71212
Thyrotoxic Periodic Paralysis
Prolonged QT interval, Shortened PR interval, Impaired myocardial contractility, Second degree at... ORPHA:79102
Gitelman Syndrome
Neoplasm of the pancreas, Prolonged QT interval, Raynaud phenomenon, Low-to-normal blood pressure... ORPHA:358
Gitelman Syndrome
Prolonged QT interval, Ventricular tachycardia, Palpitations, Hypotension OMIM:263800
Cerebral Creatine Deficiency Syndrome 1
Prolonged QT interval OMIM:300352
Pseudohypoparathyroidism Type 1B
Prolonged QT interval, Decreased response to growth hormone stimulation test, Pituitary resistanc... ORPHA:94089
Ovarian Hyperstimulation Syndrome
Hemorrhagic ovarian cyst, Enlarged polycystic ovaries, Increased circulating gonadotropin level, ... ORPHA:64739
Neurodevelopmental Disorder With Hypotonia, Language Delay, And Skeletal Defects With Or Without Seizures
Prolonged QT interval, Pulmonary arterial hypertension OMIM:620029
Muscular Dystrophy, Duchenne Type
Abnormal EKG, Congestive heart failure, Dilated cardiomyopathy, Cardiomyopathy, Arrhythmia OMIM:310200
Pseudohypoparathyroidism Type 1C
Prolonged QT interval, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimu... ORPHA:79444
Pseudohypoparathyroidism Type 1A
Prolonged QT interval, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimu... ORPHA:79443
Exercise-Induced Malignant Hyperthermia
Prolonged QT interval, ST segment depression, Hypotension, Abnormal T-wave, Abnormal pulse pressu... ORPHA:466650
17Q24.2 Microdeletion Syndrome
Prolonged QT interval, Decreased response to growth hormone stimulation test, Pulmonic stenosis, ... ORPHA:529962
Hypoplasminogenemia
Cervicitis, Abnormality of the ovary, Abnormal fallopian tube morphology ORPHA:722
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion
Epistaxis, Intracranial hemorrhage, Hypertension, Palpitations, Abnormal T-wave ORPHA:231625
Simpson-Golabi-Behmel Syndrome
Prolonged QT interval, Bundle branch block, Hypoplasia of penis, Hypospadias, Supernumerary nippl... ORPHA:373
Al Amyloidosis
Gastrointestinal hemorrhage, Abnormal EKG, Jaw claudication, Hypertrophic cardiomyopathy, Reduced... ORPHA:85443
Dextrocardia
Abnormal reproductive system morphology, Abnormal EKG, Pancreatic hypoplasia, T-wave inversion ORPHA:1666
Familial Adenomatous Polyposis 4
Ovarian cyst, Uterine leiomyoma OMIM:617100
Bardet-Biedl Syndrome 1
Abnormality of the ovary, Hypertension, Hypogonadism, Vaginal atresia, Micropenis, Decreased test... OMIM:209900
Friedreich Ataxia
Abnormal EKG, Hypertrophic cardiomyopathy, Congestive heart failure OMIM:229300
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Fused labia majora, Abnormality of male external genitalia, Adrenal hyperplasia, Abnormal externa... ORPHA:95699
Turner Syndrome Due To Structural X Chromosome Anomalies
Prolonged QT interval, Myocardial infarction, Increased circulating gonadotropin level, Hypertens... ORPHA:99413
Turner Syndrome
Prolonged QT interval, Myocardial infarction, Increased circulating gonadotropin level, Hypertens... ORPHA:881
Mosaic Monosomy X
Prolonged QT interval, Myocardial infarction, Increased circulating gonadotropin level, Hypertens... ORPHA:99228
Monosomy X
Prolonged QT interval, Myocardial infarction, Increased circulating gonadotropin level, Hypertens... ORPHA:99226
Dpagt1-Cdg
Intracranial hemorrhage, Prolonged QT interval ORPHA:86309
Cardiac Diverticulum
Abnormal EKG, Mitral stenosis, Angina pectoris, Tricuspid stenosis, Congestive heart failure, Ven... ORPHA:1686
Dopamine Beta-Hydroxylase Deficiency
Abnormal EKG, Orthostatic hypotension, Syncope, Orthostatic syncope ORPHA:230
Chronic Thromboembolic Pulmonary Hypertension
Cardiac shunt, Right ventricular failure, Pulmonary embolism, Increased pulmonary vascular resist... ORPHA:70591
Woodhouse-Sakati Syndrome
Streak ovary, Hypoplasia of the fallopian tube, Decreased response to growth hormone stimulation ... ORPHA:3464
Woodhouse-Sakati Syndrome
Hypergonadotropic hypogonadism, Hypogonadotropic hypogonadism, Hypoplasia of the fallopian tube, ... OMIM:241080
Congenital Sialidosis Type 2
Abnormal EKG, Telangiectasia ORPHA:93400
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Right bundle branch block, Abnormal EKG, Reduced left ventricular ejection fraction ORPHA:268
Absence Of The Pulmonary Artery
Abnormal EKG, Atrial flutter, Atrial fibrillation, Tachycardia, Congestive heart failure, Reduced... ORPHA:980
African Trypanosomiasis
Abnormal EKG, Pericarditis, Myocarditis, Congestive heart failure, Abnormal prolactin level, Seco... ORPHA:3385
Friedreich Ataxia 2
Abnormal EKG, Concentric hypertrophic cardiomyopathy, Congestive heart failure OMIM:601992
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
ORPHA:411515

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 Atp10a

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 Atp10a.

No publications found that use IMPC mice or data for Atp10a.

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MGI Allele Allele Type Produced
Atp10aem1(IMPC)Tcp Exon Deletion Mice
Atp10atm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Atp10atm112604(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors

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