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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
small spleen Cacna2d1em1(IMPC)Mbp HOM Early adult 0.00
impaired glucose tolerance Cacna2d1em1(IMPC)Mbp HOM Early adult 0.00
enhanced contextual conditioning behavior Cacna2d1em1(IMPC)Mbp HOM Early adult 9.33×10-05
increased freezing behavior Cacna2d1em1(IMPC)Mbp HOM   Early adult 3.60×10-42
abnormal spleen morphology Cacna2d1em1(IMPC)Mbp HOM Early adult 0.00
decreased prepulse inhibition Cacna2d1em1(IMPC)Mbp HOM   Early adult 6.26×10-12
decreased exploration in new environment Cacna2d1em1(IMPC)Mbp HOM Early adult 4.33×10-05
decreased startle reflex Cacna2d1em1(IMPC)Mbp HOM Early adult 1.38×10-08
increased fasting circulating glucose level Cacna2d1em1(IMPC)Mbp HOM Early adult 1.25×10-06
increased monocyte cell number Cacna2d1em1(IMPC)Mbp HOM Early adult 1.28×10-05
decreased bone mineral content Cacna2d1em1(IMPC)Mbp HOM Early adult 1.82×10-05
decreased locomotor activity Cacna2d1em1(IMPC)Mbp HOM Early adult 9.94×10-19
abnormal freezing behavior Cacna2d1em1(IMPC)Mbp HOM Early adult 2.21×10-07
increased circulating alkaline phosphatase level Cacna2d1em1(IMPC)Mbp HOM   Early adult 2.79×10-05

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 Whole Body Lateral Orientation

36 Images

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X-ray

XRay Images Whole Body Dorso Ventral

80 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
Ataxia, Impulsivity, Tremor, Unsteady gait, Difficulty walking, Attention deficit hyperactivity d... ORPHA:442835
Brugada Syndrome
Tachycardia, Cardiac arrest, First degree atrioventricular block, Trifascicular block, ST segment... ORPHA:130
Familial Short Qt Syndrome
Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Atrioventricular block, Syncope... 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
Renal insufficiency, Recurrent urinary tract infections, Bladder trabeculation, Spastic/hyperacti... OMIM:615112
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 4
Recurrent urinary tract infections, Hypoperistalsis, Fetal pyelectasis, Megacystis, Nephrolithiasis OMIM:619365
Atresia Of Urethra
Renal dysplasia, Renal insufficiency, Bladder fistula, Recurrent urinary tract infections, Hydrou... ORPHA:105
Ras-Associated Autoimmune Leukoproliferative Disorder
Hemolytic anemia, Pancytopenia, Hepatomegaly, Follicular hyperplasia, Autoimmune thrombocytopenia... OMIM:614470
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Neutropenia, Thr... OMIM:202700
Pandas
Anorexia, Impulsivity, Abnormal fear-induced behavior, Depression, Irritability, Tics, Attention ... ORPHA:66624
Neutropenia, Severe Congenital, 2, Autosomal Dominant
Monocytosis, B lymphocytopenia, Neutropenia OMIM:613107
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To
Acute myeloid leukemia, Refractory anemia, Leukopenia, Monocytosis, Bone marrow hypocellularity OMIM:616871
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3
Fetal megacystis, Hydroureter, Megacystis, Hydronephrosis OMIM:619362
Bilateral Parasagittal Parieto-Occipital Polymicrogyria
Abnormal fear-induced behavior, Pseudobulbar paralysis, Delirium, Aggressive behavior ORPHA:208441
Immunodeficiency 91 And Hyperinflammation
Hepatomegaly, Neutrophilia, Elevated circulating C-reactive protein concentration, Lymphadenopath... OMIM:619644
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 5
Hydroureter, Megacystis, Hydronephrosis, Portal hypertension OMIM:619431
Adrenomyodystrophy
Abnormality of the urinary system, Megacystis ORPHA:977
Immunodeficiency 14B, Autosomal Recessive
Neutrophilia, Leukocytosis, Monocytosis, B lymphocytopenia, Thrombocytosis OMIM:619281
Megabladder, Congenital
Multiple glomerular cysts, Left ventricular noncompaction cardiomyopathy, Stage 5 chronic kidney ... OMIM:618719
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Resting tremor, Hyperactivity, Broad-based gait, Anorexia, Aggressive behavior, Tremor, Abnormal ... ORPHA:3077
Immunodeficiency 15B
Monocytosis, Reduced natural killer cell count OMIM:615592
Adult Idiopathic Neutropenia
Abnormal neutrophil count, Monocytosis, Neutropenia, Monocytopenia, Lymphopenia ORPHA:2688
Autosomal Dominant Severe Congenital Neutropenia
Acute myeloid leukemia, Osteopenia, Aplastic anemia, Eosinophilia, Acute lymphoblastic leukemia, ... ORPHA:486
Visceral Myopathy 2
Ineffective esophageal peristalsis, Megacystis OMIM:619350
Diabetes Insipidus, Nephrogenic, 2, Autosomal
Megacystis, Polyuria OMIM:125800
Diabetes Insipidus, Nephrogenic, 1, X-Linked
Megacystis, Polyuria OMIM:304800
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome
Multicystic kidney dysplasia, Hydroureter, Megacystis, Hypoperistalsis ORPHA:2241
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2
Anuria, Megacystis, Pyelonephritis, Bidirectional shunt, Elevated pulmonary artery pressure, Feta... OMIM:619351
Porphyria Due To Ala Dehydratase Deficiency
Hyponatremia, Restlessness, Confusion, Abnormal erythrocyte enzyme level, Abnormal circulating po... ORPHA:100924
Stiff Person Spectrum Disorder
Exaggerated startle response, Diabetes mellitus, Falls, Difficulty walking, Emotional lability ORPHA:3198
Familial Visceral Myopathy
Vesicoureteral reflux, Hydroureter, Megacystis ORPHA:2604
Immunodeficiency 97 With Autoinflammation
Autoimmune hemolytic anemia, Hypertriglyceridemia, Decreased proportion of CD4+CD25+ regulatory T... OMIM:619802
Intellectual Developmental Disorder, Autosomal Recessive 54
Emotional lability, Exaggerated startle response, Attention deficit hyperactivity disorder OMIM:617028
Maturity-Onset Diabetes Of The Young, Type 10
Diabetic ketoacidosis, Hyperglycemia, Diabetes mellitus, Maturity-onset diabetes of the young OMIM:613370
Immunodeficiency 32B
Hepatomegaly, Neutrophilia, Eosinophilia, Thrombocytopenia, Splenomegaly, Impaired oxidative burs... OMIM:226990
Brain-Lung-Thyroid Syndrome
Vesicoureteral reflux, Pulmonary arterial hypertension, Hypospadias, Megacystis ORPHA:209905
Visceral Myopathy 1
Vesicoureteral reflux, Urinary retention, Megacystis, Hydronephrosis OMIM:155310
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Aggressive behavior, Hyperlipidemia, Hyperinsulinemia, Hyperglycemia, Polyphagia ORPHA:329249
Maturity-Onset Diabetes Of The Young, Type 3
Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young OMIM:600496
Gm2 Gangliosidosis, Ab Variant
Exaggerated startle response, Abnormal fear-induced behavior, Inappropriate behavior, Cognitive i... ORPHA:309246
Type 1 Diabetes Mellitus
Polydipsia, Diabetes mellitus, Decreased level of 1,5 anhydroglucitol in serum, Hyperglycemia, Po... OMIM:222100
Maturity-Onset Diabetes Of The Young, Type 13
Diabetes mellitus, Elevated hemoglobin A1c, Maturity-onset diabetes of the young, Maternal diabet... OMIM:616329
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3
Renal dysplasia, Duplicated collecting system, Hydroureter, Renal agenesis, Urethral stenosis, Me... OMIM:604292
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Ketotic hypoglycemia, Hyperlipidemia, Irritability, Glycosuria, Postprandial hyperglycemia, Lethargy ORPHA:2089
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Hepatomegaly, Intermittent thrombocytopenia, Perianal abscess, Erythroid hypoplasia, Thrombocytop... OMIM:612541
Diabetes Mellitus, Permanent Neonatal, 4
Elevated hemoglobin A1c, Reduced C-peptide level, Diabetic ketoacidosis, Type I diabetes mellitus... OMIM:618858
Stiff-Person Syndrome
Exaggerated startle response, Diabetes mellitus, Opisthotonus, Depression, Anemia OMIM:184850
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Hyperlipidemia, Hand tremor, Gait disturbance, Hyperglycemia, Mildly elevated creatine kinase OMIM:604484
Immunodeficiency 21
Aplastic anemia, B lymphocytopenia, Neutropenia, Monocytopenia, Myeloid leukemia, Lymphopenia, Re... OMIM:614172
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Abnormally low T cell receptor excision circle level, Pancytopenia, Generalized lymphadenopathy, ... OMIM:618986
Diabetes Mellitus, Permanent Neonatal, 1
Diabetes mellitus, Elevated hemoglobin A1c, Reduced C-peptide level, Type I diabetes mellitus, Hy... OMIM:606176
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Impaired lymphocyte transformation with phytohemagglutinin, Hypertriglyceridemia, Increased circu... OMIM:619313
Diabetes Mellitus, Transient Neonatal, 3
Elevated hemoglobin A1c, Maternal diabetes, Reduced C-peptide level, Transient neonatal diabetes ... OMIM:610582
Neutropenia, Severe Congenital, X-Linked
Monocytopenia, Decreased CD4:CD8 ratio, Neutropenia OMIM:300299
Aromatic L-Amino Acid Decarboxylase Deficiency
Torticollis, Exaggerated startle response, Oculogyric crisis, Tongue thrusting, Limb tremor, Emot... OMIM:608643
Tay-Sachs Disease
Short attention span, Exaggerated startle response, Dystonia, Increased serum beta-hexosaminidase... ORPHA:845
Mody
Elevated hemoglobin A1c, Transient neonatal diabetes mellitus, Insulin-resistant diabetes mellitu... ORPHA:552
Lipodystrophy, Familial Partial, Type 3
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Maternal diabetes, Insulin resista... OMIM:604367
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 1
Hydroureter, Fetal megacystis OMIM:249210
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
Mirage Syndrome
Hyponatremia, Hypoglycemia, Thrombocytopenia, Radial club hand, Hyperkalemia, Leukopenia, Hypopla... OMIM:617053
Stormorken Syndrome
Howell-Jolly bodies, Elevated circulating creatine kinase concentration, Asplenia, Thrombocytopen... OMIM:185070
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction
Hyperglycemia, Elevated hemoglobin A1c, Maturity-onset diabetes of the young, Exocrine pancreatic... OMIM:609812
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures
Inability to walk, Exaggerated startle response, Depression OMIM:620114
Acquired Aneurysmal Subarachnoid Hemorrhage
Progressive neurologic deterioration, Leukocytosis, Memory impairment, Addictive alcohol use, Cog... ORPHA:90065
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities
Inability to walk, Short attention span, Exaggerated startle response, Irritability OMIM:617864
Symptomatic Form Of Hfe-Related Hemochromatosis
Hepatomegaly, Cholangiocarcinoma, Diabetes mellitus, Portal hypertension, Hepatocellular carcinom... ORPHA:465508
Pearson Syndrome
Abnormality of the liver, Hypocalcemia, Neutropenia, Hepatic steatosis, Reticulocytosis, Hepatome... ORPHA:699
Diabetes Mellitus, Permanent Neonatal, 3
Type I diabetes mellitus, Athetosis, Hyperglycemia, Glycosuria OMIM:618857
Leukodystrophy, Hypomyelinating, 13
Irritability, Exaggerated startle response, Ataxia OMIM:616881
Gracile Bone Dysplasia
Asplenia, Hypoplastic spleen, Decreased skull ossification, Hypocalcemia OMIM:602361
Beta-Ketothiolase Deficiency
Hepatomegaly, Ataxia, Hypoglycemia, Anorexia, Thrombocytosis, Leukocytosis, Hyperammonemia, Agita... ORPHA:134
Pyruvate Carboxylase Deficiency
Anorexia, Tremor, Compulsive behaviors, Hyperglycemia, Hypoglutaminemia, Hepatomegaly, Ataxia, El... ORPHA:3008
Insulin-Resistance Syndrome Type B
Abnormal circulating fatty-acid concentration, Thrombocytopenia, Insulin resistance, Fasting hype... ORPHA:2298
Necrotizing Enterocolitis
Hyponatremia, Leukocytosis, Peritonitis, Abnormal glucose homeostasis, Neutropenia, Lethargy, Hyp... ORPHA:391673
Sandhoff Disease
Hepatomegaly, Exaggerated startle response, Ataxia, Progressive psychomotor deterioration, Hepato... OMIM:268800
Acth-Independent Macronodular Adrenal Hyperplasia 2
Hyperglycemia, Osteoporosis, Depression OMIM:615954
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures
Exaggerated startle response, Tremor, Truncal titubation, Dysmetria, Gait ataxia, Agitation OMIM:618056
Familial Renal Glucosuria
Elevated hemoglobin A1c, Insulin resistance, Glycosuria, Hyperglycemia, Abnormal oral glucose tol... ORPHA:69076
Tay-Sachs Disease
Psychomotor deterioration, Exaggerated startle response, Dementia OMIM:272800
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type
Multiple bladder diverticula, Proteinuria, Heart murmur ORPHA:2728
Cutis Laxa, Autosomal Recessive, Type Ia
Bladder diverticulum, Supravalvular aortic stenosis OMIM:219100
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Short attention span, Broad-based gait, Exaggerated startle response, Ataxia, Dystonia ORPHA:438216
Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome
Multicystic kidney dysplasia, Fetal megacystis ORPHA:73246
Sandhoff Disease, Infantile Form
Exaggerated startle response, Hepatosplenomegaly ORPHA:309155
Ehlers-Danlos Syndrome, Arthrochalasia Type, 2
Bladder diverticulum OMIM:617821
Mitchell-Riley Syndrome
Absent gallbladder, Diabetes mellitus, Annular pancreas, Biliary atresia, Cholestasis, Acholic st... OMIM:615710
Gm2-Gangliosidosis, Ab Variant
Exaggerated startle response, Dementia, Dystonia OMIM:272750
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Inability to walk, Exaggerated startle response OMIM:609541
Acro-Renal-Ocular Syndrome
Renal malrotation, Renal hypoplasia/aplasia, Horseshoe kidney, Bladder diverticulum, Vesicoureter... ORPHA:959
Spastic Tetraplegia And Axial Hypotonia, Progressive
Exaggerated startle response, Ataxia OMIM:618598
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Exaggerated startle response, Difficulty walking ORPHA:320406
Autosomal Recessive Cutis Laxa Type 1
Abnormal cardiac ventricular function, Recurrent urinary tract infections, Congestive heart failu... ORPHA:90349
Asparagine Synthetase Deficiency
Tremor, Irritability, Exaggerated startle response, Hypoasparaginemia OMIM:615574
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1
Gastrointestinal hemorrhage, Congestive heart failure, Arterial rupture, Bladder diverticulum, De... OMIM:225400
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2
Bladder diverticulum, Mitral regurgitation, Tricuspid regurgitation OMIM:614557
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Exaggerated startle response, Cognitive impairment, Dysphagia OMIM:617527
Pseudoleprechaunism Syndrome, Patterson Type
Bladder diverticulum ORPHA:2976
Hyperekplexia-Epilepsy Syndrome
Exaggerated startle response ORPHA:163985
Williams Syndrome
Hypoplasia of penis, Myocardial infarction, Abnormal tubulointerstitial morphology, Nephrocalcino... ORPHA:904
Occipital Horn Syndrome
Hydronephrosis, Bladder diverticulum, Orthostatic hypotension, Ureteral obstruction OMIM:304150
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1
Duplicated collecting system, Hydroureter, Renal agenesis, Hydronephrosis, Bladder diverticulum, ... OMIM:129900
Microphthalmia, Syndromic 9
Hypoplastic spleen, Multilobulated spleen OMIM:601186
Kyphoscoliotic Ehlers-Danlos Syndrome
Cerebral hemorrhage, Subdural hemorrhage, Arterial rupture, Bladder diverticulum, Antenatal intra... ORPHA:536545
Gm1 Gangliosidosis Type 1
Exaggerated startle response, Dystonia, Hepatosplenomegaly ORPHA:79255
Glycine Encephalopathy With Normal Serum Glycine
Exaggerated startle response, Dysphagia OMIM:617301
Developmental And Epileptic Encephalopathy 68
Exaggerated startle response OMIM:618201
Developmental And Epileptic Encephalopathy 8
Exaggerated startle response OMIM:300607
Menkes Disease
Intracranial hemorrhage, Bladder diverticulum, Gastrointestinal hemorrhage ORPHA:565
Williams-Beuren Syndrome
Recurrent urinary tract infections, Renal insufficiency, Portal hypertension, Abnormal renal morp... OMIM:194050
Developmental And Epileptic Encephalopathy 49
Hyperactivity, Exaggerated startle response OMIM:617281
Autosomal Dominant Cutis Laxa
Aortic regurgitation, Unilateral renal agenesis, Congestive heart failure, Pyelonephritis, Bladde... ORPHA:90348
Hyperekplexia 3
Exaggerated startle response OMIM:614618
Hyperekplexia 2
Exaggerated startle response OMIM:614619
Plaa-Associated Neurodevelopmental Disorder
Impaired oropharyngeal swallow response, Exaggerated startle response, Dystonia 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
Exaggerated startle response, Elevated circulating creatine kinase concentration OMIM:253800
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Hydroureter, Hypospadias, Dilatation of the renal pelvis, Right-to-left shunt, Dilatation of the ... OMIM:265380
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Exaggerated startle response OMIM:608800
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Irritability, Exaggerated startle response, Dysphagia OMIM:618367
Cutis Laxa, Autosomal Recessive, Type Ic
Hydronephrosis, Multiple bladder diverticula OMIM:613177
Hyperekplexia 1
Exaggerated startle response OMIM:149400
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Social and occup... ORPHA:353281
Occipital Horn Syndrome
Bladder diverticulum, Recurrent urinary tract infections ORPHA:198
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Osteopenia, Broad-based gait, Exaggerated startle response, Dystonia, Decreased serum iron, Inabi... ORPHA:438213
Classical Ehlers-Danlos Syndrome
Orthostatic hypotension, Arterial rupture, Bladder diverticulum, Mitral regurgitation, Abnormal h... ORPHA:287
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Social and occup... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Social and occup... ORPHA:353277
Vascular Ehlers-Danlos Syndrome
Telangiectasia of the skin, Transient ischemic attack, Hypospadias, Cystocele, Renovascular hyper... ORPHA:286
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Exaggerated startle response, Abnormal repetitive mannerisms, Attention deficit hyperactivity dis... OMIM:619522
Non-Specific Early-Onset Epileptic Encephalopathy
Ataxia, Impulsivity, Tremor, Unsteady gait, Difficulty walking, Attention deficit hyperactivity d... ORPHA:442835
Brugada Syndrome
Tachycardia, Cardiac arrest, First degree atrioventricular block, Trifascicular block, ST segment... ORPHA:130
Familial Short Qt Syndrome
Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Atrioventricular block, Syncope... 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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