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Gene: Cacna2d1 MGI:88295

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Gene Summary

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

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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
increased freezing behavior Cacna2d1em1(IMPC)Mbp HOM   Early adult 3.38×10-42
increased circulating alkaline phosphatase level Cacna2d1em1(IMPC)Mbp HOM   Early adult 2.79×10-05
abnormal spleen morphology Cacna2d1em1(IMPC)Mbp HOM Early adult 0.00
enhanced contextual conditioning behavior Cacna2d1em1(IMPC)Mbp HOM   Early adult 9.32×10-06
impaired glucose tolerance Cacna2d1em1(IMPC)Mbp HOM Early adult 0.00
increased fasting circulating glucose level Cacna2d1em1(IMPC)Mbp HOM Early adult 1.25×10-06
decreased prepulse inhibition Cacna2d1em1(IMPC)Mbp HOM   Early adult 6.93×10-12
decreased startle reflex Cacna2d1em1(IMPC)Mbp HOM Early adult 2.07×10-08
decreased locomotor activity Cacna2d1em1(IMPC)Mbp HOM Early adult 0.00
decreased exploration in new environment Cacna2d1em1(IMPC)Mbp HOM Early adult 7.75×10-06
decreased bone mineral content Cacna2d1em1(IMPC)Mbp HOM Early adult 1.82×10-05
increased monocyte cell number Cacna2d1em1(IMPC)Mbp HOM Early adult 1.44×10-05
small spleen Cacna2d1em1(IMPC)Mbp HOM Early adult 0.00
abnormal freezing behavior Cacna2d1em1(IMPC)Mbp HOM Early adult 2.18×10-07

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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

80 Images

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X-ray

XRay Images Whole Body Lateral Orientation

36 Images

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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.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Non-Specific Early-Onset Epileptic Encephalopathy
Difficulty walking, Tremor, Impulsivity, Ataxia, Unsteady gait, Attention deficit hyperactivity d... ORPHA:442835
Brugada Syndrome
Sick sinus syndrome, Paroxysmal ventricular tachycardia, ST segment elevation, Trifascicular bloc... ORPHA:130
Familial Short Qt Syndrome
Bradycardia, Atrial fibrillation, Syncope, Ventricular fibrillation, Ventricular arrhythmia, Shor... ORPHA:51083
Developmental And Epileptic Encephalopathy 110
Bruxism OMIM:620149

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Urofacial Syndrome 2
Recurrent urinary tract infections, Vesicoureteral reflux, Enuresis, Urinary urgency, Hydronephro... OMIM:615112
Atresia Of Urethra
Pulmonary insufficiency, Hydroureter, Recurrent urinary tract infections, Dilatation of the bladd... ORPHA:105
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 4
Recurrent urinary tract infections, Nephrolithiasis, Hypoperistalsis, Fetal pyelectasis, Megacystis OMIM:619365
Ras-Associated Autoimmune Leukoproliferative Disorder
Hepatomegaly, Pancytopenia, Lymphocytosis, Splenomegaly, Hemolytic anemia, Autoimmune thrombocyto... OMIM:614470
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Anemia, Thrombocytosis, Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monoc... OMIM:202700
Neutropenia, Severe Congenital, 10, Autosomal Recessive
Anorectal abscess, Anemia, Thrombocytopenia, Monocytosis, Neutropenia OMIM:620534
Neutropenia, Severe Congenital, 2, Autosomal Dominant
B lymphocytopenia, Monocytosis, Neutropenia OMIM:613107
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To
Acute myeloid leukemia, Refractory anemia, Bone marrow hypocellularity, Leukopenia, Monocytosis OMIM:616871
Pandas
Anorexia, Irritability, Obsessive-compulsive trait, Abnormal fear-induced behavior, Emotional lab... ORPHA:66624
Bilateral Parasagittal Parieto-Occipital Polymicrogyria
Pseudobulbar paralysis, Abnormal fear-induced behavior, Delirium, Aggressive behavior ORPHA:208441
Immunodeficiency 91 And Hyperinflammation
Hepatomegaly, Hemophagocytosis, Lymphadenopathy, Elevated circulating C-reactive protein concentr... OMIM:619644
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 5
Megacystis, Hydronephrosis, Hydroureter, Portal hypertension OMIM:619431
Adrenomyodystrophy
Megacystis, Abnormality of the urinary system ORPHA:977
Megabladder, Congenital
Multiple glomerular cysts, Fetal megacystis, Left ventricular noncompaction cardiomyopathy, Hyper... OMIM:618719
Immunodeficiency 14B, Autosomal Recessive
Monocytosis, B lymphocytopenia, Leukocytosis, Neutrophilia, Thrombocytosis OMIM:619281
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Anorexia, Irritability, Abnormal fear-induced behavior, Broad-based gait, Resting tremor, Hyperac... ORPHA:3077
Immunodeficiency 15B
Monocytosis, Reduced natural killer cell count OMIM:615592
Autosomal Dominant Severe Congenital Neutropenia
Aplastic anemia, Osteopenia, Acute myeloid leukemia, Acute lymphoblastic leukemia, Lymphopenia, E... ORPHA:486
Visceral Myopathy 2
Megacystis, Ineffective esophageal peristalsis OMIM:619350
Diabetes Insipidus, Nephrogenic, 2, Autosomal
Polyuria, Megacystis OMIM:125800
Adult Idiopathic Neutropenia
Monocytopenia, Monocytosis, Neutropenia, Lymphopenia ORPHA:2688
Diabetes Insipidus, Nephrogenic, 1, X-Linked
Polyuria, Megacystis OMIM:304800
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome
Megacystis, Hypoperistalsis, Hydroureter, Multicystic kidney dysplasia ORPHA:2241
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2
Elevated pulmonary artery pressure, Bidirectional shunt, Anuria, Fetal megacystis, Renal cortical... OMIM:619351
Familial Visceral Myopathy
Megacystis, Vesicoureteral reflux, Hydroureter ORPHA:2604
Porphyria Due To Ala Dehydratase Deficiency
Agitation, Increased erythrocyte protoporphyrin concentration, Abnormal fear-induced behavior, Di... ORPHA:100924
Stiff Person Spectrum Disorder
Difficulty walking, Falls, Emotional lability, Exaggerated startle response, Diabetes mellitus ORPHA:3198
Immunodeficiency 97 With Autoinflammation
Autoimmune hemolytic anemia, Hypertriglyceridemia, Increased circulating ferritin concentration, ... OMIM:619802
Intellectual Developmental Disorder, Autosomal Recessive 54
Attention deficit hyperactivity disorder, Emotional lability, Exaggerated startle response OMIM:617028
Immunodeficiency 113 With Autoimmunity And Autoinflammation
Autoimmune hemolytic anemia, Hepatomegaly, Elevated circulating C-reactive protein concentration,... OMIM:620565
Maturity-Onset Diabetes Of The Young, Type 10
Diabetic ketoacidosis, Diabetes mellitus, Maturity-onset diabetes of the young, Hyperglycemia OMIM:613370
Immunodeficiency 32B
Hepatomegaly, Anemia, Monocytopenia, Neutrophilia, Thrombocytopenia, Splenomegaly, Hypoalbuminemi... OMIM:226990
Brain-Lung-Thyroid Syndrome
Megacystis, Vesicoureteral reflux, Hypospadias, Pulmonary arterial hypertension ORPHA:209905
Visceral Myopathy 1
Megacystis, Vesicoureteral reflux, Urinary retention, Hydronephrosis OMIM:155310
Obesity Due To Sim1 Deficiency
Hyperinsulinemia, Memory impairment, Polyphagia, Cognitive impairment, Attention deficit hyperact... ORPHA:369873
Gm2 Gangliosidosis, Ab Variant
Inappropriate behavior, Abnormal fear-induced behavior, Exaggerated startle response, Cognitive i... ORPHA:309246
Maturity-Onset Diabetes Of The Young, Type 3
Maturity-onset diabetes of the young, Hyperglycemia, Type II diabetes mellitus OMIM:600496
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3
Hydroureter, Duplicated collecting system, Vesicoureteral reflux, Ureterocele, Renal agenesis, Hy... OMIM:604292
Maturity-Onset Diabetes Of The Young, Type 13
Maturity-onset diabetes of the young, Maternal diabetes, Hyperglycemia, Elevated hemoglobin A1c, ... OMIM:616329
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Irritability, Ketotic hypoglycemia, Hyperlipidemia, Glycosuria, Lethargy, Postprandial hyperglycemia ORPHA:2089
Type 1 Diabetes Mellitus
Polydipsia, Polyphagia, Hyperglycemia, Diabetes mellitus, Decreased level of 1,5 anhydroglucitol ... OMIM:222100
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Perianal abscess, Hepatomegaly, Anemia, Erythroid hypoplasia, Hypoplasia of the thymus, Leukopeni... OMIM:612541
Stiff-Person Syndrome
Anemia, Depression, Exaggerated startle response, Opisthotonus, Diabetes mellitus OMIM:184850
Diabetes Mellitus, Permanent Neonatal, 4
Hyperglycemia, Elevated hemoglobin A1c, Diabetic ketoacidosis, Type I diabetes mellitus, Reduced ... OMIM:618858
Immunodeficiency 21
Aplastic anemia, Anemia, Neutropenia, B lymphocytopenia, Lymphopenia, Monocytopenia, Reduced natu... OMIM:614172
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Hyperlipidemia, Gait disturbance, Hyperglycemia, Mildly elevated creatine kinase, Hand tremor OMIM:604484
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Hypertriglyceridemia, Increased circulating ferritin concentration, Impaired lymphocyte transform... OMIM:619313
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Pancytopenia, B lymphocytopenia, Lymphadenitis, T lymphocytopenia, Leukopenia, Hepatosplenomegaly... OMIM:618986
Diabetes Mellitus, Permanent Neonatal, 1
Hyperglycemia, Elevated hemoglobin A1c, Type I diabetes mellitus, Diabetes mellitus, Reduced C-pe... OMIM:606176
Diabetes Mellitus, Transient Neonatal, 3
Maternal diabetes, Hyperglycemia, Transient neonatal diabetes mellitus, Elevated hemoglobin A1c, ... OMIM:610582
Multiple Mitochondrial Dysfunctions Syndrome 7
Irritability, Agitation, Hyperactivity, Exaggerated startle response, Impulsivity, Hypernatremia,... OMIM:620423
Neutropenia, Severe Congenital, X-Linked
Monocytopenia, Decreased CD4:CD8 ratio, Neutropenia OMIM:300299
Aromatic L-Amino Acid Decarboxylase Deficiency
Irritability, Torticollis, Oculogyric crisis, Tongue thrusting, Emotional lability, Athetosis, Bl... OMIM:608643
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 1
Hydroureter, Fetal megacystis OMIM:249210
Mody
Neonatal hypoglycemia, Hepatocellular adenoma, Abnormal circulating C-peptide concentration, Hypo... ORPHA:552
Lipodystrophy, Familial Partial, Type 3
Hypertriglyceridemia, Cirrhosis, Hyperinsulinemia, Maternal diabetes, Decreased HDL cholesterol c... OMIM:604367
Lissencephaly Syndrome, Norman-Roberts Type
Hypoplastic spleen, Dysphagia ORPHA:89844
X-Linked Severe Congenital Neutropenia
Monocytopenia, Neutropenia ORPHA:86788
Immunodeficiency 11A
Monocytopenia, Decreased proportion of CD4+CD25+ regulatory T cells OMIM:615206
Pituitary Adenoma 4, Acth-Secreting
Abnormal fear-induced behavior, Hypokalemia, Emotional lability, Impaired glucose tolerance, Oste... OMIM:219090
Mirage Syndrome
Hyperkalemia, Anemia, Radial club hand, Hyponatremia, Hypoplastic spleen, Leukopenia, Thrombocyto... OMIM:617053
Tay-Sachs Disease
Inability to walk, Memory impairment, Depression, Increased serum beta-hexosaminidase, Tremor, Sh... ORPHA:845
Stormorken Syndrome
Anemia, Howell-Jolly bodies, Elevated circulating creatine kinase concentration, Asplenia, Hypopl... OMIM:185070
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures
Depression, Inability to walk, Exaggerated startle response OMIM:620114
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities
Irritability, Inability to walk, Short attention span, Exaggerated startle response OMIM:617864
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction
Exocrine pancreatic insufficiency, Maturity-onset diabetes of the young, Hyperglycemia, Elevated ... OMIM:609812
Leukodystrophy, Hypomyelinating, 13
Irritability, Ataxia, Exaggerated startle response OMIM:616881
Pearson Syndrome
Reticulocytosis, Bone marrow hypocellularity, Ataxia, Splenomegaly, Hypophosphatemia, Dysphagia, ... ORPHA:699
Gracile Bone Dysplasia
Hypocalcemia, Hypoplastic spleen, Decreased skull ossification, Asplenia OMIM:602361
Acquired Aneurysmal Subarachnoid Hemorrhage
Memory impairment, Leukocytosis, Cognitive impairment, Addictive alcohol use, Hyperglycemia, Prog... ORPHA:90065
Symptomatic Form Of Hfe-Related Hemochromatosis
Cirrhosis, Hepatomegaly, Abnormality of iron homeostasis, Increased circulating ferritin concentr... ORPHA:465508
Beta-Ketothiolase Deficiency
Anorexia, Agitation, Hepatomegaly, Hyperuricemia, Leukocytosis, Hyperammonemia, Hyperglycemia, At... ORPHA:134
Diabetes Mellitus, Permanent Neonatal, 3
Glycosuria, Type I diabetes mellitus, Athetosis, Hyperglycemia OMIM:618857
Insulin-Resistance Syndrome Type B
Abnormal circulating lipid concentration, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Fastin... ORPHA:2298
Pyruvate Carboxylase Deficiency
Hyperammonemia, Ataxia, Anorexia, Tip-toe gait, Elevated plasma citrulline, Tremor, Increased ser... ORPHA:3008
Sandhoff Disease
Hepatomegaly, Progressive psychomotor deterioration, Exaggerated startle response, Ataxia, Hepato... OMIM:268800
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures
Agitation, Truncal titubation, Tremor, Exaggerated startle response, Gait ataxia, Dysmetria OMIM:618056
Acth-Independent Macronodular Adrenal Hyperplasia 2
Depression, Hyperglycemia, Osteoporosis OMIM:615954
Patent Urachus
Urachal cyst, Recurrent urinary tract infections, Congenital posterior urethral valve, Patent ura... ORPHA:431341
Tay-Sachs Disease
Psychomotor deterioration, Exaggerated startle response, Dementia OMIM:272800
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Broad-based gait, Short attention span, Exaggerated startle response, Dystonia, Ataxia ORPHA:438216
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type
Multiple bladder diverticula, Proteinuria, Heart murmur ORPHA:2728
Combined Oxidative Phosphorylation Deficiency 58
Difficulty walking, Hyperalaninemia, Exaggerated startle response, Gait ataxia, Ataxia, Hypoglyce... OMIM:620451
Cutis Laxa, Autosomal Recessive, Type Ia
Bladder diverticulum, Supravalvular aortic stenosis, Aortic regurgitation OMIM:219100
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3
Hydronephrosis, Hydroureter, Fetal megacystis OMIM:619362
Sandhoff Disease, Infantile Form
Hepatosplenomegaly, Exaggerated startle response ORPHA:309155
Autosomal Recessive Cutis Laxa Type 1
Congestive heart failure, Multiple bladder diverticula, Pyelonephritis, Abnormal cardiac ventricu... ORPHA:90349
Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome
Fetal megacystis, Multicystic kidney dysplasia ORPHA:73246
Ciliary Dyskinesia, Primary, 53
Hypoplastic spleen, Polysplenia, Abdominal situs inversus OMIM:620642
Ehlers-Danlos Syndrome, Arthrochalasia Type, 2
Bladder diverticulum OMIM:617821
Mitchell-Riley Syndrome
Annular pancreas, Biliary atresia, Hyperbilirubinemia, Pancreatic hypoplasia, Cholestasis, Hyperg... OMIM:615710
Gm2-Gangliosidosis, Ab Variant
Dystonia, Exaggerated startle response, Dementia OMIM:272750
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Inability to walk, Exaggerated startle response OMIM:609541
Acro-Renal-Ocular Syndrome
Renal hypoplasia/aplasia, Vesicoureteral reflux, Bladder diverticulum, Crossed fused renal ectopi... ORPHA:959
Spastic Tetraplegia And Axial Hypotonia, Progressive
Ataxia, Exaggerated startle response OMIM:618598
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Difficulty walking, Exaggerated startle response ORPHA:320406
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1
Congestive heart failure, Gastrointestinal hemorrhage, Decreased urinary lysyl-pyridinoline-hydro... OMIM:225400
Asparagine Synthetase Deficiency
Irritability, Tremor, Hypoasparaginemia, Exaggerated startle response OMIM:615574
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Dysphagia, Exaggerated startle response, Cognitive impairment OMIM:617527
Pseudoleprechaunism Syndrome, Patterson Type
Bladder diverticulum ORPHA:2976
Hyperekplexia-Epilepsy Syndrome
Exaggerated startle response ORPHA:163985
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2
Mitral regurgitation, Bladder diverticulum, Tricuspid regurgitation OMIM:614557
Williams Syndrome
Hypoplasia of penis, Hypertension, Cerebral ischemia, Pulmonic stenosis, Nephrocalcinosis, Multip... ORPHA:904
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1
Hydroureter, Duplicated collecting system, Vesicoureteral reflux, Ureterocele, Renal agenesis, Hy... OMIM:129900
Microphthalmia, Syndromic 9
Multilobulated spleen, Hypoplastic spleen OMIM:601186
Occipital Horn Syndrome
Bladder diverticulum, Ureteral obstruction, Hydronephrosis, Orthostatic hypotension OMIM:304150
Kyphoscoliotic Ehlers-Danlos Syndrome
Bladder diverticulum, Cerebral hemorrhage, Antenatal intracerebral hemorrhage, Subdural hemorrhag... ORPHA:536545
Glycine Encephalopathy With Normal Serum Glycine
Dysphagia, Exaggerated startle response OMIM:617301
Developmental And Epileptic Encephalopathy 68
Exaggerated startle response OMIM:618201
Developmental And Epileptic Encephalopathy 8
Exaggerated startle response OMIM:300607
Developmental And Epileptic Encephalopathy 49
Hyperactivity, Exaggerated startle response OMIM:617281
Menkes Disease
Gastrointestinal hemorrhage, Bladder diverticulum, Intracranial hemorrhage ORPHA:565
Gm1 Gangliosidosis Type 1
Hepatosplenomegaly, Exaggerated startle response ORPHA:79255
Hyperekplexia 3
Exaggerated startle response OMIM:614618
Hyperekplexia 2
Exaggerated startle response OMIM:614619
Autosomal Dominant Cutis Laxa
Congestive heart failure, Unilateral renal agenesis, Aortic regurgitation, Bladder diverticulum, ... ORPHA:90348
Williams-Beuren Syndrome
Renal insufficiency, Hypercalciuria, Abnormal renal morphology, Recurrent urinary tract infection... OMIM:194050
Plaa-Associated Neurodevelopmental Disorder
Impaired oropharyngeal swallow response, Dystonia, Exaggerated startle response ORPHA:521426
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Tremor, Exaggerated startle response OMIM:620327
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Elevated circulating creatine kinase concentration, Exaggerated startle response OMIM:253800
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Exaggerated startle response OMIM:608800
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Pulmonary insufficiency, Hydroureter, Hypospadias, Right-to-left shunt, Dilatation of the bladder... OMIM:265380
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Irritability, Dysphagia, Exaggerated startle response OMIM:618367
Hyperekplexia 1
Exaggerated startle response OMIM:149400
Cutis Laxa, Autosomal Recessive, Type Ic
Multiple bladder diverticula, Hydronephrosis OMIM:613177
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Abnormal fear-induced behavior, Emotional lability, Hyperactivity, Compulsive behaviors, Impulsiv... ORPHA:353281
Occipital Horn Syndrome
Recurrent urinary tract infections, Bladder diverticulum ORPHA:198
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Osteopenia, Anemia, Inability to walk, Broad-based gait, Exaggerated startle response, Osteoporos... ORPHA:438213
Classical Ehlers-Danlos Syndrome
Orthostatic hypotension, Abnormal heart valve physiology, Bladder diverticulum, Mitral regurgitat... ORPHA:287
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Abnormal fear-induced behavior, Emotional lability, Hyperactivity, Compulsive behaviors, Impulsiv... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Abnormal fear-induced behavior, Emotional lability, Hyperactivity, Compulsive behaviors, Impulsiv... ORPHA:353277
Vascular Ehlers-Danlos Syndrome
Hypospadias, Hypertension, Transient ischemic attack, Internal hemorrhage, Renovascular hypertens... ORPHA:286
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Attention deficit hyperactivity disorder, Motor stereotypy, Dysphagia, Exaggerated startle response OMIM:619522
Non-Specific Early-Onset Epileptic Encephalopathy
Difficulty walking, Tremor, Impulsivity, Ataxia, Unsteady gait, Attention deficit hyperactivity d... ORPHA:442835
Brugada Syndrome
Sick sinus syndrome, Paroxysmal ventricular tachycardia, ST segment elevation, Trifascicular bloc... ORPHA:130
Familial Short Qt Syndrome
Bradycardia, Atrial fibrillation, Syncope, Ventricular fibrillation, Ventricular arrhythmia, Shor... ORPHA:51083
Developmental And Epileptic Encephalopathy 110
Bruxism OMIM:620149

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.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Cacna2d1tm197592(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Cacna2d1tm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells
Cacna2d1em1(IMPC)Mbp Exon Deletion Mice, Tissue
Cacna2d1tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells

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