Gene Summary

Name:
calcium channel, voltage-dependent, alpha2/delta subunit 1
Synonyms:
Cchl2a,  Cacna2,  Ca(v)alpha2delta1

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 startle reflex Cacna2d1em1(IMPC)Mbp HOM Early adult 3.17×10-10
enhanced contextual conditioning behavior Cacna2d1em1(IMPC)Mbp HOM   Early adult 7.47×10-05
small spleen Cacna2d1em1(IMPC)Mbp HOM Early adult 0.00
increased circulating alkaline phosphatase level Cacna2d1em1(IMPC)Mbp HOM   Early adult 8.09×10-06
increased freezing behavior Cacna2d1em1(IMPC)Mbp HOM Early adult 0.00
increased fasting circulating glucose level Cacna2d1em1(IMPC)Mbp HOM Early adult 2.77×10-08
decreased prepulse inhibition Cacna2d1em1(IMPC)Mbp HOM   Early adult 1.90×10-12
abnormal freezing behavior Cacna2d1em1(IMPC)Mbp HOM Early adult 3.39×10-07
impaired glucose tolerance Cacna2d1em1(IMPC)Mbp HOM Early adult 0.00
increased monocyte cell number Cacna2d1em1(IMPC)Mbp HOM Early adult 1.17×10-05
hypoactivity Cacna2d1em1(IMPC)Mbp HOM Early adult 0.00
abnormal spleen morphology Cacna2d1em1(IMPC)Mbp HOM Early adult 0.00
decreased exploration in new environment Cacna2d1em1(IMPC)Mbp HOM Early adult 1.47×10-05
shortened ST segment Cacna2d1em1(IMPC)Mbp HOM   Early adult 7.52×10-05

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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 Whole Body Dorso Ventral

54 Images

X-ray

XRay Images Whole Body Lateral Orientation

18 Images

Human diseases caused by Cacna2d1 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 Cacna2d1 by orthology or direct annotation.

The table below shows human diseases predicted to be associated to Cacna2d1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Familial Alzheimer-Like Prion Disease
Deficit in phonologic short-term memory, Depression, Emotional lability, Anxiety, Cognitive impai... ORPHA:280397
Wolfram-Like Syndrome, Autosomal Dominant
Glucose intolerance, Depression, Impaired glucose tolerance, Anxiety, Diabetes mellitus OMIM:614296
Severe Primary Trimethylaminuria
Negative affectivity, Low self esteem, Aggressive behavior, Depression, Emotional lability, Anxiety ORPHA:468726
Acquired Aneurysmal Subarachnoid Hemorrhage
Progressive neurologic deterioration, Hypercholesterolemia, Ischemic stroke, Leukocytosis, ST seg... ORPHA:90065
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 4
Megacystis, Recurrent urinary tract infections, Hypoperistalsis, Fetal pyelectasis, Nephrolithiasis OMIM:619365
Atresia Of Urethra
Megacystis, Hydroureter, Pulmonary insufficiency, Recurrent urinary tract infections, Renal dyspl... ORPHA:105
Ras-Associated Autoimmune Leukoproliferative Disorder
Lymphocytosis, Monocytosis, Hemolytic anemia, Autoimmune thrombocytopenia, Neutropenia, Follicula... OMIM:614470
Brugada Syndrome
Ventricular arrhythmia, Sick sinus syndrome, Ventricular fibrillation, Supraventricular tachycard... ORPHA:130
Recessive Mitochondrial Ataxia Syndrome
Limb dysmetria, Increased serum pyruvate, Gait disturbance, Ataxia, Dysmetria, ST segment elevati... ORPHA:94125
Tako-Tsubo Cardiomyopathy
Ventricular arrhythmia, Mildly elevated creatine kinase, Prolonged QTc interval, Syncope, Cardiog... ORPHA:66529
Prkar1B-Related Neurodegenerative Dementia With Intermediate Filaments
Inertia, Dementia, Apathy, Frontotemporal dementia, Bradykinesia, Motor deterioration, Falls, Anx... ORPHA:412066
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Dystonia, Tremor, Depression, Ataxia, Anxiety, Inappropriate behavior, Cognitive impairment, Memo... ORPHA:401901
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Congenital agranulocytosis, Monocytosis, Thrombocytosis, Acute monocytic leukemia, Neutropenia, A... OMIM:202700
Tropical Endomyocardial Fibrosis
Atrial flutter, P pulmonale, Tricuspid regurgitation, Abnormal T-wave, Hypoalbuminemia, Eosinophi... ORPHA:75565
Dystonia 11, Myoclonic
Tremor, Depression, Agoraphobia, Writer's cramp, Torticollis, Anxiety OMIM:159900
Neutropenia, Severe Congenital, 2, Autosomal Dominant
Monocytosis, B lymphocytopenia, Neutropenia OMIM:613107
Cardiomyopathy, Familial Hypertrophic, 13
ST segment depression, Atrial fibrillation, Hypertrophic cardiomyopathy, Ventricular fibrillation... OMIM:613243
Spinocerebellar Ataxia 12
Dysdiadochokinesis, Axial dystonia, Dementia, Depression, Head tremor, Action tremor, Progressive... OMIM:604326
Huntington Disease-Like 2
Dystonia, Dementia, Depression, Apathy, Bradykinesia, Action tremor, Irritability, Anxiety OMIM:606438
Creutzfeldt-Jakob Disease
Gait ataxia, Dementia, Depression, Apathy, Irritability, Anxiety, Memory impairment OMIM:123400
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To
Monocytosis, Acute myeloid leukemia, Leukopenia, Refractory anemia, Bone marrow hypocellularity OMIM:616871
Myoclonus-Dystonia Syndrome
Personality disorder, Dystonia, Depression, Writer's cramp, Panic attack, Torticollis, Anxiety ORPHA:36899
Parkinson Disease 6, Autosomal Recessive Early-Onset
Dystonia, Dementia, Depression, Resting tremor, Bradykinesia, Anxiety OMIM:605909
Epilepsy, Progressive Myoclonic, 12
Depression, Difficulty walking, Ataxia, Anxiety, Dysmetria, Mental deterioration, Attention defic... OMIM:619191
Brugada Syndrome 9
Palpitations, Presyncope, ST segment elevation OMIM:616399
Adrenomyodystrophy
Megacystis, Abnormality of the urinary system ORPHA:977
Congenital Left Ventricular Aneurysm
Abnormal T-wave, Arrhythmia, Congestive heart failure, Abnormal ST segment ORPHA:1055
Scorpion Envenomation
Cardiac conduction abnormality, Increased circulating NT-proBNP concentration, Myocarditis, Cardi... ORPHA:466677
Idiopathic Neonatal Atrial Flutter
Reduced ejection fraction, Maternal diabetes, Arrhythmia, Paroxysmal supraventricular tachycardia... ORPHA:45452
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency
Palpitations, Arrhythmia, T-wave inversion, Ventricular tachycardia, Ventricular fibrillation, ST... ORPHA:263297
Immunodeficiency 14B, Autosomal Recessive
Monocytosis, Thrombocytosis, Leukocytosis, B lymphocytopenia, Neutrophilia OMIM:619281
Rapid-Onset Dystonia-Parkinsonism
Gait ataxia, Depression, Resting tremor, Bradykinesia, Emotional lability, Craniofacial dystonia,... ORPHA:71517
Megabladder, Congenital
Left ventricular noncompaction cardiomyopathy, Fetal megacystis, Stage 5 chronic kidney disease, ... OMIM:618719
Coronary Artery Disease, Autosomal Dominant 2
Hypercholesterolemia, Glucose intolerance, Impaired glucose tolerance, Hypertension, Sudden cardi... OMIM:610947
Cardiogenic Shock
Low pulse pressure, Right ventricular failure, Hypotension, Elevated circulating creatinine conce... ORPHA:97292
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Bipolar affective disorder, Tremor, Aggressive behavior, Broad-based gait, Resting tremor, Conges... ORPHA:3077
Pandas
Claustrophobia, Depression, Agoraphobia, Emotional lability, Separation insecurity, Impulsivity, ... ORPHA:66624
Brugada Syndrome 8
Right bundle branch block, ST segment elevation, Ventricular tachycardia OMIM:613123
Visceral Myopathy 2
Ineffective esophageal peristalsis, Megacystis OMIM:619350
Muscular Dystrophy, Becker Type
Elevated circulating creatine kinase concentration, Abnormal EKG, Arrhythmia, Cardiomyopathy OMIM:300376
Huntington Disease-Like 1
Aggressive behavior, Dementia, Depression, Unsteady gait, Anxiety, Dysmetria OMIM:603218
Adult Idiopathic Neutropenia
Monocytosis, Monocytopenia, Neutropenia, Lymphopenia ORPHA:2688
Diabetes Insipidus, Nephrogenic, 2, Autosomal
Megacystis, Polyuria OMIM:125800
Diabetes Insipidus, Nephrogenic, X-Linked
Megacystis, Polyuria OMIM:304800
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Erythroid hypoplasia, Monocytosis, Lymphopenia, Neutropenia, Hypoplasia of the thymus, Thrombocyt... OMIM:612541
Brugada Syndrome 6
Ventricular fibrillation, Cardiac arrest, ST segment elevation OMIM:613119
Bladder Diverticulum
Dysuria, Urethral sphincter sclerosis, Hematuria, Urinary hesitancy, Recurrent urinary tract infe... OMIM:109820
Stiff Person Spectrum Disorder
Difficulty walking, Agoraphobia, Emotional lability, Exaggerated startle response, Falls, Anxiety... ORPHA:3198
Wolfram-Like Syndrome
Glucose intolerance, Dementia, Depression, Progressive cerebellar ataxia, Anxiety, Diabetes mellitus ORPHA:411590
Dystonia 12
Dystonia, Depression, Bradykinesia, Emotional lability, Torticollis, Unsteady gait, Anxiety OMIM:128235
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive
Hyperglycemia, Anxiety, Ataxia OMIM:618970
Atrial Fibrillation, Familial, 14
Paroxysmal atrial fibrillation, ST segment elevation, Prolonged PR interval, Hypertension OMIM:615378
Gitelman Syndrome
Hypocalcemia, Hypermagnesemia, Abnormal T-wave, Type II diabetes mellitus, Hypomagnesemia, Neopla... ORPHA:358
Brugada Syndrome 5
Ventricular fibrillation, Bundle branch block, ST segment elevation OMIM:612838
Cerebral Autosomal Dominant Arteriopathy-Subcortical Infarcts-Leukoencephalopathy
Ischemic stroke, Dementia, Depression, Intracranial hemorrhage, Apathy, Gait disturbance, Bradyph... ORPHA:136
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome
Hypoperistalsis, Megacystis, Multicystic kidney dysplasia, Hydroureter ORPHA:2241
Atrial Septal Defect, Ostium Secundum Type
Palpitations, Arrhythmia, Bundle branch block, Right ventricular failure, Supraventricular arrhyt... ORPHA:99103
Brugada Syndrome 7
Atrial flutter, ST segment elevation OMIM:613120
Stiff-Person Syndrome
Depression, Agoraphobia, Hypertension, Opisthotonus, Exaggerated startle response, Tachycardia, A... OMIM:184850
Spinocerebellar Ataxia 48
Dystonia, Gait ataxia, Tremor, Depression, Ataxia, Irritability, Anxiety, Dysmetria, Mental deter... OMIM:618093
Coproporphyria, Hereditary
Depression, Hypertension, Hepatomegaly, Jaundice, Tachycardia, Anxiety, Splenomegaly OMIM:121300
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2
Renal cortical hyperechogenicity, Megacystis, Elevated pulmonary artery pressure, Pyelonephritis,... OMIM:619351
Familial Visceral Myopathy
Vesicoureteral reflux, Megacystis, Hydroureter ORPHA:2604
Autosomal Dominant Severe Congenital Neutropenia
Monocytosis, Lymphopenia, Leukemia, Neutropenia, Acute myeloid leukemia, Aplastic anemia, Acute l... ORPHA:486
Mcleod Syndrome
Personality disorder, Dilated cardiomyopathy, Depression, Atrial fibrillation, Abnormal erythrocy... OMIM:300842
Muscular Dystrophy, Cardiac Type
Elevated circulating creatine kinase concentration, Abnormal EKG, Cardiomyopathy OMIM:309930
Choreoacanthocytosis
Dystonia, Disinhibition, Aggressive behavior, Dementia, Self-mutilation of tongue and lips due to... OMIM:200150
Hemochromatosis, Type 4
Increased circulating ferritin concentration, Arrhythmia, Glucose intolerance, Impaired glucose t... OMIM:606069
Holoprosencephaly, Recurrent Infections, And Monocytosis
Monocytosis OMIM:610680
Dopa-Responsive Dystonia
Inability to walk, Dystonia, Lethargy, Tremor, Depression, Difficulty walking, Gait disturbance, ... ORPHA:255
Huntington Disease
Inability to walk, Dystonia, Mental deterioration, Aggressive behavior, Disinhibition, Depression... ORPHA:399
Obesity Due To Sim1 Deficiency
Hyperinsulinemia, Glucose intolerance, Hypotension, Postural hypotension with compensatory tachyc... ORPHA:369873
Brain-Lung-Thyroid Syndrome
Pulmonary arterial hypertension, Hypospadias, Vesicoureteral reflux, Megacystis ORPHA:209905
Maturity-Onset Diabetes Of The Young, Type 10
Maturity-onset diabetes of the young, Diabetes mellitus, Hyperglycemia, Diabetic ketoacidosis OMIM:613370
Insulinoma
Palpitations, Tremor, Lethargy, Hyperinsulinemic hypoglycemia, Hyperinsulinemia, Fasting hyperins... ORPHA:97279
Basal Ganglia Calcification, Idiopathic, 5
Dementia, Depression, Apathy, Anxiety, Cognitive impairment, Athetosis OMIM:615483
Gm2 Gangliosidosis, Ab Variant
Dystonia, Exaggerated startle response, Anxiety, Abnormal fear/anxiety-related behavior, Inapprop... ORPHA:309246
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Dysdiadochokinesis, Dystonia, Tremor, Aggressive behavior, Depression, Ataxia, Bradykinesia, Anxi... OMIM:615157
Perry Syndrome
Dystonia, Tremor, Disinhibition, Akinesia, Depression, Apathy, Frontotemporal dementia, Bradykine... OMIM:168605
Exercise-Induced Malignant Hyperthermia
Hypocalcemia, Lethargy, Abnormal pulse pressure, Hypotension, Sinus tachycardia, ST segment depre... ORPHA:466650
Visceral Myopathy 1
Vesicoureteral reflux, Megacystis, Urinary retention, Hydronephrosis OMIM:155310
Early-Onset Cerebellar Ataxia With Retained Tendon Reflexes
Cognitive impairment, Progressive cerebellar ataxia, Progressive gait ataxia, Abnormal EKG ORPHA:1177
Atrial Standstill
Palpitations, Reduced ejection fraction, Arrhythmia, Ischemic stroke, Cardiac conduction abnormal... ORPHA:1344
Incessant Infant Ventricular Tachycardia
Bundle branch block, Prolonged QRS complex, Wolff-Parkinson-White syndrome, Ventricular tachycard... ORPHA:45453
Fragile X Tremor/Ataxia Syndrome
Dysdiadochokinesis, Postural tremor, Gait ataxia, Disinhibition, Dementia, Depression, Resting tr... OMIM:300623
Classic Galactosemia
Postural tremor, Dystonia, Lethargy, Depression, Gait disturbance, Hypoglycemia, Ataxia, Hepatome... ORPHA:79239
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3
Megacystis, Hydroureter, Duplicated collecting system, Bladder diverticulum, Urethral stenosis, R... OMIM:604292
Maturity-Onset Diabetes Of The Young, Type 3
Maturity-onset diabetes of the young, Hyperglycemia, Type II diabetes mellitus OMIM:600496
Dyskinesia, Familial, With Facial Myokymia
Dystonia, Resting tremor, Congestive heart failure, Anxiety, Dilated cardiomyopathy OMIM:606703
Immunodeficiency 21
Myeloid leukemia, Monocytopenia, Abnormal natural killer cell morphology, Lymphopenia, Neutropeni... OMIM:614172
Bilateral Parasagittal Parieto-Occipital Polymicrogyria
Suicidal ideation, Aggressive behavior, Abnormal fear/anxiety-related behavior ORPHA:208441
Nathalie Syndrome
Abnormal EKG OMIM:255990
Childhood Disintegrative Disorder
Dementia, Abnormal emotion/affect behavior, Social and occupational deterioration, Motor deterior... ORPHA:168782
Symptomatic Form Of Hemochromatosis Type 1
Increased circulating ferritin concentration, Cirrhosis, Lethargy, Arrhythmia, Abnormality of iro... ORPHA:465508
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Lethargy, Ketotic hypoglycemia, Postprandial hyperglycemia, Glycosuria, Irritability, Hyperlipidemia ORPHA:2089
Parkinson Disease 7, Autosomal Recessive Early-Onset
Postural tremor, Blepharospasm, Resting tremor, Bradykinesia, Leg dystonia, Anxiety OMIM:606324
Peripartum Cardiomyopathy
Cardiogenic shock, Palpitations, Reduced ejection fraction, Right ventricular failure, Dilated ca... ORPHA:563
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
T lymphocytopenia, Monocytopenia, Lymphadenitis, Lymphopenia, Abnormally low T cell receptor exci... OMIM:618986
Early-Onset Schizophrenia
Low self esteem, Depression, Abnormal emotion/affect behavior, Impairment in personality function... ORPHA:96369
Multiple System Atrophy, Parkinsonian Type
Postural tremor, Axial dystonia, Gait ataxia, Orthostatic hypotension due to autonomic dysfunctio... ORPHA:98933
Adult-Onset Cervical Dystonia, Dyt23 Type
Axial dystonia, Supraventricular arrhythmia, Difficulty walking, Head tremor, Craniofacial dyston... ORPHA:420492
Multiple System Atrophy, Cerebellar Type
Postural tremor, Axial dystonia, Gait ataxia, Orthostatic hypotension due to autonomic dysfunctio... ORPHA:227510
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Increased circulating ferritin concentration, T lymphocytopenia, Restrictive cardiomyopathy, Impa... OMIM:619313
Glucocorticoid Resistance, Generalized
Hypertension, Anxiety, Hypoglycemia OMIM:615962
Porphyria Due To Ala Dehydratase Deficiency
Increased erythrocyte protoporphyrin concentration, Depression, Apathy, Difficulty walking, Hypon... ORPHA:100924
Diabetes Mellitus, Permanent Neonatal, 4
Elevated hemoglobin A1c, Reduced C-peptide level, Type I diabetes mellitus, Diabetic ketoacidosis... OMIM:618858
Romano-Ward Syndrome
Ventricular arrhythmia, Torsade de pointes, Abnormal cardiac exercise stress test, Sudden cardiac... ORPHA:101016
Long Qt Syndrome 13
Paroxysmal atrial fibrillation, Atrial fibrillation, Hypertension, Pulmonary embolism, Atrioventr... OMIM:613485
Autoimmune Hypoparathyroidism
Ventricular arrhythmia, Hypocalcemia, Depression, Abnormal left ventricular function, Hypocalcemi... ORPHA:36913
Muscular Dystrophy, Duchenne Type
Abnormal EKG, Arrhythmia, Dilated cardiomyopathy, Congestive heart failure, Waddling gait, Elevat... OMIM:310200
Long Qt Syndrome 10
Atrial fibrillation, Sudden cardiac death, Atrioventricular block, Prolonged QT interval, T-wave ... OMIM:611819
Friedreich Ataxia
Abnormal echocardiogram, Gait ataxia, Limb ataxia, Ataxia, Congestive heart failure, Diabetes mel... OMIM:229300
Lipodystrophy, Familial Partial, Type 1
Insulin-resistant diabetes mellitus, Acute pancreatitis, Hepatomegaly, Hypertriglyceridemia, Hype... OMIM:608600
Young-Onset Parkinson Disease
Dystonia, Tremor, Dementia, Depression, Apathy, Bradykinesia, Panic attack, Impulsivity, Anxiety,... ORPHA:2828
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12
Ventricular arrhythmia, Prolonged QRS complex, T-wave inversion, Ventricular tachycardia, Right v... OMIM:611528
Diabetes Mellitus, Permanent Neonatal, 1
Elevated hemoglobin A1c, Reduced C-peptide level, Type I diabetes mellitus, Hyperglycemia, Diabet... OMIM:606176
Dopamine Beta-Hydroxylase Deficiency
Hyperinsulinemia, Increased blood urea nitrogen, Insulin resistance, Orthostatic hypotension, Ele... ORPHA:230
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Decreased plasma carnitine, Hypoglycemic seizures, Lethargy, Hyperinsulinemic hypoglycemia, Neona... ORPHA:71212
Neonatal Lupus Erythematosus
Heart block, Hemolytic anemia, Abnormal electrophysiology of sinoatrial node origin, Arrhythmia, ... ORPHA:398124
Lipodystrophy, Familial Partial, Type 3
Cirrhosis, Maternal diabetes, Hyperinsulinemia, Hepatic steatosis, Hyperuricemia, Insulin-resista... OMIM:604367
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome
Hypoglycemic seizures, Dystonia, Arrhythmia, Hypoglycemia, Ataxia, Elevated circulating acylcarni... ORPHA:480864
X-Linked Severe Congenital Neutropenia
Monocytopenia, Neutropenia ORPHA:86788
Dystonia 26, Myoclonic
Depression, Blepharospasm, Laryngeal dystonia, Torticollis, Anxiety OMIM:616398
Necrotizing Enterocolitis
Peritonitis, Lethargy, Leukocytosis, Hypotension, Hyponatremia, Neutropenia, Thrombocytopenia, Sh... ORPHA:391673
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5
Palpitations, Prolonged QRS complex, Ventricular extrasystoles, Ventricular tachycardia, Sudden c... OMIM:604400
Complete Atrioventricular Septal Defect
Lethargy, Right ventricular failure, Elevated pulmonary artery pressure, Third heart sound, Abnor... ORPHA:1329
Tay-Sachs Disease
Apathy, Psychomotor deterioration, Dementia, Exaggerated startle response OMIM:272800
Rett Syndrome
Dystonia, Gait ataxia, Truncal ataxia, Dementia, Motor deterioration, Abnormal T-wave, Gait aprax... OMIM:312750
Aromatic L-Amino Acid Decarboxylase Deficiency
Lethargy, Hypotension, Blepharospasm, Emotional lability, Limb tremor, Torticollis, Oculogyric cr... OMIM:608643
Mody
Abnormal oral glucose tolerance, Hyperinsulinemic hypoglycemia, Exocrine pancreatic insufficiency... ORPHA:552
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 1
Fetal megacystis, Hydroureter OMIM:249210
Al Amyloidosis
Arrhythmia, Gastrointestinal hemorrhage, Postural hypotension with compensatory tachycardia, Hepa... ORPHA:85443
Beta-Ketothiolase Deficiency
Thrombocytosis, Hyperglycemia, Leukocytosis, Apathy, Hypotension, Hyperuricemia, Hypoglycemia, At... ORPHA:134
Mirage Syndrome
Intracranial hemorrhage, Lymphopenia, Hyponatremia, Hypoglycemia, Thrombocytopenia, Anemia, Leuko... OMIM:617053
3-Methylglutaconic Aciduria, Type V
Noncompaction cardiomyopathy, Microvesicular hepatic steatosis, Sudden cardiac death, Congestive ... OMIM:610198
Diabetes Mellitus, Transient Neonatal, 3
Transient neonatal diabetes mellitus, Elevated hemoglobin A1c, Hyperglycemia, Maternal diabetes OMIM:610582
Long Qt Syndrome 14
Atrioventricular block, Ventricular fibrillation, Sinus bradycardia, Prolonged QT interval, Cardi... OMIM:616247
Long Qt Syndrome 16
Second degree atrioventricular block, Prolonged QTc interval, Bradycardia, T-wave alternans OMIM:618782
Fragile X-Associated Tremor/Ataxia Syndrome
Gait ataxia, Inertia, Dementia, Depression, Hypotension, Gait disturbance, Ataxia, Bradykinesia, ... ORPHA:93256
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Hypocalcemia, Hypoproteinemia, Lethargy, Arrhythmia, Dilated cardiomyopathy, Hypoketotic hypoglyc... ORPHA:26793
Gm2-Gangliosidosis, Ab Variant
Apathy, Dystonia, Dementia, Exaggerated startle response OMIM:272750
Wild Type Attr Amyloidosis
Arrhythmia, Orthostatic hypotension due to autonomic dysfunction, Hepatomegaly, Myocardial infarc... ORPHA:330001
Wolff-Parkinson-White Syndrome
Palpitations, Prolonged QRS complex, Paroxysmal supraventricular tachycardia, Wolff-Parkinson-Whi... OMIM:194200
Cardiomyopathy, Familial Hypertrophic, 8
Palpitations, Restrictive cardiomyopathy, T-wave inversion, Sudden cardiac death, Ventricular fib... OMIM:608751
Pearson Syndrome
Hypocalcemia, Cardiac conduction abnormality, Reticulocytosis, Neutropenia, Pancreatic fibrosis, ... ORPHA:699
Jervell And Lange-Nielsen Syndrome 1
Sudden cardiac death, Prolonged QT interval, Torsade de pointes, Syncope OMIM:220400
Type 1 Diabetes Mellitus
Hyperglycemia, Diabetes mellitus, Decreased level of 1,5 anhydroglucitol in serum OMIM:222100
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Paroxysmal supraventricular tachycardia, Atrial flutter, Ventricular extrasystoles, Atrial fibril... OMIM:616117
Ataxia-Telangiectasia With Generalized Skin Pigmentation And Early Death
Conjunctival telangiectasia, Dystonia, Glucose intolerance, Impaired glucose tolerance, Elevated ... OMIM:208910
Cardiomyopathy, Familial Hypertrophic, 10
Palpitations, Asymmetric septal hypertrophy, T-wave inversion, Ventricular tachycardia, Sudden ca... OMIM:608758
Pseudohypoparathyroidism Type 1B
Hypocalcemia, Depression, Hypocalcemic tetany, Laryngeal dystonia, Irritability, Anxiety, Prolong... ORPHA:94089
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Fasting hypoglycemia, Hyperinsulinemia, Postprandial hyperglycemia, Hypoglycemia, Insulin-resista... OMIM:262190
Lipodystrophy, Congenital Generalized, Type 4
Hyperinsulinemia, Insulin resistance, Hepatic steatosis, Atrial fibrillation, Hepatomegaly, Hyper... OMIM:613327
Tay-Sachs Disease
Inability to walk, Dystonia, Tremor, Depression, Gait disturbance, Increased serum beta-hexosamin... ORPHA:845
Jervell And Lange-Nielsen Syndrome 2
Sudden cardiac death, Prolonged QT interval, Torsade de pointes, Syncope OMIM:612347
Brugada Syndrome 3
Ventricular arrhythmia, Shortened QT interval, J wave, Atrial fibrillation, Sudden cardiac death,... OMIM:611875
Insulin-Resistance Syndrome Type B
Abnormal oral glucose tolerance, Fasting hypoglycemia, Hyperinsulinemic hypoglycemia, Hyperinsuli... ORPHA:2298
Pyruvate Carboxylase Deficiency
Dystonia, Tremor, Hyperglycemia, Apathy, Hypernatremia, Hypoglutaminemia, Increased level of L-gl... ORPHA:3008
Congenital Sialidosis Type 2
Ataxia, Hepatomegaly, Dysmetria, Hepatosplenomegaly, Telangiectasia, Abnormal EKG ORPHA:93400
Diverticulosis Of Bowel, Hernia, And Retinal Detachment
Bladder diverticulum OMIM:223330
Dilated Cardiomyopathy With Ataxia
Hypochromic microcytic anemia, Dystonia, Neonatal hypoglycemia, Microvesicular hepatic steatosis,... ORPHA:66634
Progressive Familial Heart Block, Type Ib
Arrhythmia, Atrioventricular block, Shortened PR interval, Prolonged QT interval, Left anterior f... OMIM:604559
Sick Sinus Syndrome 1
Sick sinus syndrome, Ventricular escape rhythm, Atrioventricular block, Absent P wave, Sinus brad... OMIM:608567
Chronic Thromboembolic Pulmonary Hypertension
Palpitations, Right ventricular failure, Depression, Increased HDL cholesterol concentration, Car... ORPHA:70591
Choreoacanthocytosis
Hair-pulling, Head titubation, Emotional lability, Head-banging, Progressive inability to walk, F... ORPHA:2388
Lissencephaly Syndrome, Norman-Roberts Type
Hypoplastic spleen ORPHA:89844
Alternating Hemiplegia Of Childhood
Progressive neurologic deterioration, Dystonia, Arrhythmia, Tremor, Aggressive behavior, Cardiac ... ORPHA:2131
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Inability to walk, Reduced ejection fraction, Elevated circulating creatine kinase concentration,... ORPHA:268
Sandhoff Disease
Orthostatic hypotension, Ataxia, Hepatomegaly, Progressive psychomotor deterioration, Exaggerated... OMIM:268800
Pseudohypoparathyroidism Type 2
Hypocalcemia, Hypocalcemic tetany, Laryngeal dystonia, Prolonged QT interval, Hyperphosphatemia, ... ORPHA:94090
Long Qt Syndrome 1
Sudden cardiac death, Ventricular fibrillation, Prolonged QT interval, Torsade de pointes, Syncope OMIM:192500
Atrial Septal Defect, Ostium Primum Type
Palpitations, Right bundle branch block, Atrial flutter, Third heart sound, Atrial fibrillation, ... ORPHA:99106
African Trypanosomiasis
Abnormal EKG, Arrhythmia, Tremor, Aggressive behavior, Akinesia, Pericarditis, Difficulty walking... ORPHA:3385
Dextrocardia
T-wave inversion, Pancreatic hypoplasia, Abnormality of the spleen, Abnormality of abdominal situ... ORPHA:1666
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Dystonia, Ataxia, Exaggerated startle response, Anxiety, Broad-based gait ORPHA:438216
Familial Short Qt Syndrome
Ventricular arrhythmia, Palpitations, Shortened QT interval, Atrial fibrillation, Sudden cardiac ... ORPHA:51083
Long Qt Syndrome 2
Sudden cardiac death, Ventricular fibrillation, Prolonged QT interval, Torsade de pointes, Syncope OMIM:613688
Long Qt Syndrome 6
Sudden cardiac death, Ventricular fibrillation, Prolonged QT interval, Torsade de pointes, Syncope OMIM:613693
Long Qt Syndrome 5
Sudden cardiac death, Ventricular fibrillation, Prolonged QT interval, Torsade de pointes, Syncope OMIM:613695
Long Qt Syndrome 3
Sudden cardiac death, Ventricular fibrillation, Prolonged QT interval, Torsade de pointes, Syncope OMIM:603830
Pituitary Adenoma 4, Acth-Secreting
Glucose intolerance, Impaired glucose tolerance, Hypertension, Emotional lability, Hypokalemia, A... OMIM:219090
Cutis Laxa, Autosomal Recessive, Type Ia
Supravalvular aortic stenosis, Bladder diverticulum OMIM:219100
Long Qt Syndrome 15
Ventricular fibrillation, Prolonged QT interval, Cardiac arrest, Bradycardia, Prolonged QTc interval OMIM:616249
Andersen Cardiodysrhythmic Periodic Paralysis
Palpitations, Depression, Prominent U wave, Bidirectional ventricular ectopy, Hypokalemia, Prolon... OMIM:170390
Diabetes Mellitus, Permanent Neonatal, 3
Hyperglycemia, Type I diabetes mellitus, Athetosis, Glycosuria OMIM:618857
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type
Heart murmur, Proteinuria, Multiple bladder diverticula ORPHA:2728
Atrial Standstill 2
Palpitations, Atrial standstill, Atrial cardiomyopathy, Hyperpepsinogenemia I, Atrial arrhythmia,... OMIM:615745
Naxos Disease
Ventricular arrhythmia, Palpitations, Prolonged QRS complex, T-wave inversion, Ventricular extras... OMIM:601214
Steinert Myotonic Dystrophy
Hypercholesterolemia, Cardiac conduction abnormality, Impairment in personality functioning, Emot... ORPHA:273
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion
Palpitations, Intracranial hemorrhage, Epistaxis, Hypertension, Abnormal T-wave, Decreased circul... ORPHA:231625
Gracile Bone Dysplasia
Hypocalcemia, Hypoplastic spleen, Asplenia OMIM:602361
Acth-Independent Macronodular Adrenal Hyperplasia 2
Hyperglycemia, Hypertension, Depression OMIM:615954
Short Qt Syndrome 1
Palpitations, Paroxysmal atrial fibrillation, Shortened QT interval, Sudden cardiac death, Cardia... OMIM:609620
Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities
Pulmonic stenosis, Abnormal EKG OMIM:178650
Cardiac Arrhythmia, Ankyrin-B-Related
Atrial fibrillation, Sudden cardiac death, Sinus bradycardia, Prolonged QT interval, Syncope OMIM:600919
Thyrotoxic Periodic Paralysis
Palpitations, Tremor, Postprandial hyperglycemia, Mildly elevated creatine kinase, Transient hypo... ORPHA:79102
Autosomal Recessive Cutis Laxa Type 1
Pyelonephritis, Abnormal cardiac ventricular function, Recurrent urinary tract infections, Multip... ORPHA:90349
Ehlers-Danlos Syndrome, Arthrochalasia Type, 2
Bladder diverticulum OMIM:617821
Charcot-Marie-Tooth Peroneal Muscular Atrophy And Friedreich Ataxia, Combined
Abnormal echocardiogram, Concentric hypertrophic cardiomyopathy, Ataxia, Congestive heart failure... OMIM:302900
Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome
Fetal megacystis, Multicystic kidney dysplasia ORPHA:73246
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1
Bladder diverticulum, Congestive heart failure, Gastrointestinal hemorrhage, Arterial rupture OMIM:225400
Short Qt Syndrome 2
Shortened QT interval, Atrial fibrillation, Sudden cardiac death, Ventricular fibrillation, Brady... OMIM:609621
Friedreich Ataxia And Congenital Glaucoma
Abnormal echocardiogram, Concentric hypertrophic cardiomyopathy, Ataxia, Congestive heart failure... OMIM:229310
Ethylene Glycol Poisoning
Hypocalcemia, Hypotension, Atrial fibrillation, Ataxia, Hypertension, Congestive heart failure, E... ORPHA:31826
Mitchell-Riley Syndrome
Hyperglycemia, Annular pancreas, Biliary atresia, Hyperbilirubinemia, Cholestasis, Pancreatic hyp... OMIM:615710
Friedreich Ataxia 2
Abnormal echocardiogram, Concentric hypertrophic cardiomyopathy, Ataxia, Congestive heart failure... OMIM:601992
Congenital Aortic Valve Stenosis
Reduced ejection fraction, Abnormal pulse pressure, Angina pectoris, Abnormal left ventricular fu... ORPHA:3093
Acro-Renal-Ocular Syndrome
Crossed fused renal ectopia, Renal malrotation, Horseshoe kidney, Bladder diverticulum, Vesicoure... ORPHA:959
Long Qt Syndrome 9
Ventricular arrhythmia, Prolonged QT interval, Sinus bradycardia, Cardiac arrest OMIM:611818
Woodhouse-Sakati Syndrome
Dystonia, Hyperinsulinemia, Insulin-resistant diabetes mellitus, Abnormal T-wave, Mental deterior... ORPHA:3464
Cocaine Intoxication
Ventricular arrhythmia, Tremor, Ischemic stroke, Supraventricular arrhythmia, Hypovolemia, Prolon... ORPHA:90068
Pseudoleprechaunism Syndrome, Patterson Type
Bladder diverticulum ORPHA:2976
Cutis Laxa, Autosomal Recessive, Type Ic
Hydronephrosis, Bladder diverticulum OMIM:613177
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2
Bladder diverticulum OMIM:614557
Microphthalmia, Syndromic 9
Pulmonic stenosis, Hypoplastic spleen, Multilobulated spleen OMIM:601186
Spastic Tetraplegia And Axial Hypotonia, Progressive
Exaggerated startle response, Ataxia OMIM:618598
Occipital Horn Syndrome
Ureteral obstruction, Hydronephrosis, Orthostatic hypotension, Bladder diverticulum OMIM:304150
Kyphoscoliotic Ehlers-Danlos Syndrome
Antenatal intracerebral hemorrhage, Subdural hemorrhage, Bladder diverticulum, Cerebral hemorrhag... ORPHA:536545
Williams Syndrome
Recurrent urinary tract infections, Abnormality of the bladder, Hypercalciuria, Vesicoureteral re... ORPHA:904
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Difficulty walking, Exaggerated startle response ORPHA:320406
Menkes Disease
Intracranial hemorrhage, Gastrointestinal hemorrhage, Bladder diverticulum ORPHA:565
Developmental And Epileptic Encephalopathy 8
Exaggerated startle response OMIM:300607
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1
Hydroureter, Duplicated collecting system, Bladder diverticulum, Renal dysplasia, Vesicoureteral ... OMIM:129900
Hyperekplexia 3
Exaggerated startle response OMIM:614618
Williams-Beuren Syndrome
Renal insufficiency, Abnormal renal morphology, Renal hypoplasia, Recurrent urinary tract infecti... OMIM:194050
Hyperekplexia-Epilepsy Syndrome
Exaggerated startle response ORPHA:163985
Gm1 Gangliosidosis Type 1
Exaggerated startle response, Hepatosplenomegaly, Cardiomyopathy ORPHA:79255
Woodhouse-Sakati Syndrome
Abnormal T-wave, Dystonia, Diabetes mellitus, Hyperlipidemia OMIM:241080
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Elevated circulating creatine kinase concentration, Pulmonic stenosis, Exaggerated startle respon... OMIM:253800
Hyperekplexia 2
Exaggerated startle response OMIM:614619
Developmental And Epileptic Encephalopathy 68
Exaggerated startle response OMIM:618201
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Exaggerated startle response OMIM:618367
Short Qt Syndrome 3
Shortened QT interval, Palpitations, Tachycardia OMIM:609622
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Exaggerated startle response OMIM:609541
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Cognitive impairment, Exaggerated startle response OMIM:617527
Occipital Horn Syndrome
Recurrent urinary tract infections, Bladder diverticulum ORPHA:198
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Aggressive behavior, Cardiac conduction abnormality, Self-injurious behavior, Agoraphobia, Emotio... ORPHA:353281
Hyperekplexia 1
Exaggerated startle response OMIM:149400
Classical Ehlers-Danlos Syndrome
Orthostatic hypotension, Abnormal heart valve physiology, Bladder diverticulum, Arterial rupture,... ORPHA:287
Asparagine Synthetase Deficiency
Exaggerated startle response OMIM:615574
Plaa-Associated Neurodevelopmental Disorder
Dystonia, Exaggerated startle response ORPHA:521426
Glycine Encephalopathy With Normal Serum Glycine
Exaggerated startle response OMIM:617301
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Hydroureter, Pulmonary insufficiency, Dilatation of the bladder, Right-to-left shunt, Hydronephro... OMIM:265380
Cerebellar-Facial-Dental Syndrome
Abnormal T-wave ORPHA:444072
Vascular Ehlers-Danlos Syndrome
Internal hemorrhage, Renovascular hypertension, Hypertension, Telangiectasia of the skin, Bladder... ORPHA:286
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Inability to walk, Dystonia, Decreased serum iron, Pulmonic stenosis, Exaggerated startle respons... ORPHA:438213

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 Cacna2d1

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 Cacna2d1.

No publications found that use IMPC mice or data for Cacna2d1.

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MGI Allele Allele Type Produced
Cacna2d1tm197592(L1L2_Bact_P) Targeting vectors
Cacna2d1em1(IMPC)Mbp Exon Deletion Mice, Tissue

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