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

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 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
Mental deterioration, Difficulty walking, Tremor, Attention deficit hyperactivity disorder, Ataxi... ORPHA:442835
Brugada Syndrome
Trifascicular block, Supraventricular tachycardia, Syncope, Paroxysmal ventricular tachycardia, F... ORPHA:130
Familial Short Qt Syndrome
Atrioventricular block, Shortened QT interval, Palpitations, Syncope, Bradycardia, Ventricular ar... 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
Megacystis, Recurrent urinary tract infections, Renal insufficiency, Vesicoureteral reflux, Hydro... OMIM:615112
Atresia Of Urethra
Hydroureter, Megacystis, Recurrent urinary tract infections, Bladder fistula, Renal insufficiency... ORPHA:105
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 4
Megacystis, Recurrent urinary tract infections, Nephrolithiasis, Hypoperistalsis, Fetal pyelectasis OMIM:619365
Ras-Associated Autoimmune Leukoproliferative Disorder
Pancytopenia, Splenomegaly, Follicular hyperplasia, Hepatomegaly, Lymphocytosis, Neutropenia, Mon... OMIM:614470
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Acute monocytic leukemia, Congenital agranulocytosis, Thrombocytosis, Eosinophilia, Neutropenia, ... OMIM:202700
Neutropenia, Severe Congenital, 10, Autosomal Recessive
Anorectal abscess, Monocytosis, Thrombocytopenia, Neutropenia, Anemia OMIM:620534
Neutropenia, Severe Congenital, 2, Autosomal Dominant
B lymphocytopenia, Neutropenia, Monocytosis OMIM:613107
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To
Bone marrow hypocellularity, Leukopenia, Acute myeloid leukemia, Monocytosis, Refractory anemia OMIM:616871
Pandas
Depression, Abnormal fear-induced behavior, Oppositional defiant disorder, Obsessive-compulsive t... ORPHA:66624
Bilateral Parasagittal Parieto-Occipital Polymicrogyria
Delirium, Aggressive behavior, Abnormal fear-induced behavior, Pseudobulbar paralysis ORPHA:208441
Immunodeficiency 91 And Hyperinflammation
Neutrophilia, Hemophagocytosis, Hepatosplenomegaly, Lymphadenopathy, Thrombocytopenia, Monocytosi... OMIM:619644
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 5
Hydronephrosis, Megacystis, Portal hypertension, Hydroureter OMIM:619431
Adrenomyodystrophy
Abnormality of the urinary system, Megacystis ORPHA:977
Megabladder, Congenital
Hyperechogenic kidneys, Left ventricular noncompaction cardiomyopathy, Stage 5 chronic kidney dis... OMIM:618719
Immunodeficiency 14B, Autosomal Recessive
Neutrophilia, Thrombocytosis, Leukocytosis, B lymphocytopenia, Monocytosis OMIM:619281
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Broad-based gait, Shuffling gait, Abnormal fear-induced behavior, Resting tremor, Tremor, Irritab... ORPHA:3077
Immunodeficiency 15B
Reduced natural killer cell count, Monocytosis OMIM:615592
Autosomal Dominant Severe Congenital Neutropenia
Osteopenia, Aplastic anemia, Lymphopenia, Eosinophilia, Acute myeloid leukemia, Neutropenia, Mono... ORPHA:486
Visceral Myopathy 2
Ineffective esophageal peristalsis, Megacystis OMIM:619350
Adult Idiopathic Neutropenia
Monocytopenia, Lymphopenia, Neutropenia, Monocytosis ORPHA:2688
Diabetes Insipidus, Nephrogenic, 2, Autosomal
Polyuria, Megacystis OMIM:125800
Diabetes Insipidus, Nephrogenic, 1, X-Linked
Polyuria, Megacystis OMIM:304800
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome
Megacystis, Multicystic kidney dysplasia, Hypoperistalsis, Hydroureter ORPHA:2241
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2
Bidirectional shunt, Renal cortical hyperechogenicity, Anuria, Megacystis, Pyelonephritis, Elevat... OMIM:619351
Familial Visceral Myopathy
Vesicoureteral reflux, Hydroureter, Megacystis ORPHA:2604
Stiff Person Spectrum Disorder
Falls, Difficulty walking, Emotional lability, Exaggerated startle response, Diabetes mellitus ORPHA:3198
Porphyria Due To Ala Dehydratase Deficiency
Depression, Abnormal fear-induced behavior, Difficulty walking, Confusion, Abnormal circulating p... ORPHA:100924
Intellectual Developmental Disorder, Autosomal Recessive 54
Attention deficit hyperactivity disorder, Emotional lability, Exaggerated startle response OMIM:617028
Immunodeficiency 97 With Autoinflammation
Decreased proportion of CD4+CD25+ regulatory T cells, Reduced natural killer cell count, Mediasti... OMIM:619802
Maturity-Onset Diabetes Of The Young, Type 10
Hyperglycemia, Diabetes mellitus, Maturity-onset diabetes of the young, Diabetic ketoacidosis OMIM:613370
Immunodeficiency 113 With Autoimmunity And Autoinflammation
Neutrophilia, Intraalveolar phospholipid accumulation, Hepatitis, Leukocytosis, Autoimmune hemoly... OMIM:620565
Brain-Lung-Thyroid Syndrome
Pulmonary arterial hypertension, Hypospadias, Megacystis, Vesicoureteral reflux ORPHA:209905
Immunodeficiency 32B
Hypoalbuminemia, Impaired oxidative burst, Splenomegaly, Hepatomegaly, Eosinophilia, Monocytopeni... OMIM:226990
Visceral Myopathy 1
Hydronephrosis, Vesicoureteral reflux, Urinary retention, Megacystis OMIM:155310
Obesity Due To Sim1 Deficiency
Memory impairment, Hyperinsulinemia, Glucose intolerance, Polyphagia, Attention deficit hyperacti... ORPHA:369873
Gm2 Gangliosidosis, Ab Variant
Abnormal fear-induced behavior, Inappropriate behavior, Cognitive impairment, Exaggerated startle... ORPHA:309246
Maturity-Onset Diabetes Of The Young, Type 3
Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young OMIM:600496
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3
Hydroureter, Renal agenesis, Ureterocele, Megacystis, Vesicoureteral reflux, Hydronephrosis, Blad... OMIM:604292
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Postprandial hyperglycemia, Glycosuria, Hyperlipidemia, Irritability, Lethargy, Ketotic hypoglycemia ORPHA:2089
Maturity-Onset Diabetes Of The Young, Type 13
Maturity-onset diabetes of the young, Hyperglycemia, Reduced C-peptide level, Maternal diabetes, ... OMIM:616329
Type 1 Diabetes Mellitus
Polydipsia, Hyperglycemia, Polyphagia, Decreased level of 1,5 anhydroglucitol in serum, Diabetes ... OMIM:222100
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Lymphopenia, Hepatosplenomegaly, Leukopenia, Splenomegaly, Erythroid hypoplasia, Hypoplasia of th... OMIM:612541
Stiff-Person Syndrome
Depression, Opisthotonus, Exaggerated startle response, Anemia, Diabetes mellitus OMIM:184850
Diabetes Mellitus, Permanent Neonatal, 4
Type I diabetes mellitus, Hyperglycemia, Reduced C-peptide level, Elevated hemoglobin A1c, Diabet... OMIM:618858
Immunodeficiency 21
Reduced natural killer cell count, Aplastic anemia, Lymphopenia, Anemia, Neutropenia, B lymphocyt... OMIM:614172
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Abnormally low T cell receptor excision circle level, Lymphadenitis, Lymphopenia, Hepatosplenomeg... OMIM:618986
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Reduced natural killer cell count, Increased circulating ferritin concentration, Hypertriglycerid... OMIM:619313
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Hand tremor, Hyperglycemia, Hyperlipidemia, Gait disturbance, Mildly elevated creatine kinase OMIM:604484
Diabetes Mellitus, Permanent Neonatal, 1
Type I diabetes mellitus, Hyperglycemia, Reduced C-peptide level, Elevated hemoglobin A1c, Diabet... OMIM:606176
Multiple Mitochondrial Dysfunctions Syndrome 7
Hypernatremia, Hypoglycemia, Hyperglycemia, Hyperglycinemia, Agitation, Irritability, Lethargy, H... OMIM:620423
Diabetes Mellitus, Transient Neonatal, 3
Hyperglycemia, Transient neonatal diabetes mellitus, Reduced C-peptide level, Maternal diabetes, ... OMIM:610582
Neutropenia, Severe Congenital, X-Linked
Monocytopenia, Decreased CD4:CD8 ratio, Neutropenia OMIM:300299
Aromatic L-Amino Acid Decarboxylase Deficiency
Blepharospasm, Oculogyric crisis, Limb dystonia, Emotional lability, Irritability, Lethargy, Tong... OMIM:608643
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 1
Hydroureter, Fetal megacystis OMIM:249210
Mody
Abnormal oral glucose tolerance, Glycosuria, Insulin-resistant diabetes mellitus, Pancreatic hypo... ORPHA:552
Lipodystrophy, Familial Partial, Type 3
Insulin resistance, Insulin-resistant diabetes mellitus, Decreased HDL cholesterol concentration,... OMIM:604367
Lissencephaly Syndrome, Norman-Roberts Type
Dysphagia, Hypoplastic spleen 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, Glucose intolerance, Emotional lability, Hypokalemia, Osteoporosi... OMIM:219090
Mirage Syndrome
Hypoglycemia, Radial club hand, Lymphopenia, Leukopenia, Hyponatremia, Thrombocytopenia, Anemia, ... OMIM:617053
Tay-Sachs Disease
Increased serum beta-hexosaminidase, Memory impairment, Depression, Laryngeal dystonia, Inability... ORPHA:845
Stormorken Syndrome
Howell-Jolly bodies, Elevated circulating creatine kinase concentration, Thrombocytopenia, Anemia... OMIM:185070
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures
Inability to walk, Depression, Exaggerated startle response OMIM:620114
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities
Inability to walk, Short attention span, Exaggerated startle response, Irritability OMIM:617864
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction
Exocrine pancreatic insufficiency, Elevated hemoglobin A1c, Maturity-onset diabetes of the young,... OMIM:609812
Leukodystrophy, Hypomyelinating, 13
Ataxia, Exaggerated startle response, Irritability OMIM:616881
Pearson Syndrome
Pancytopenia, Hepatic steatosis, Hypophosphatemia, Neutropenia, Ataxia, Hepatomegaly, Hypoplastic... ORPHA:699
Gracile Bone Dysplasia
Asplenia, Hypoplastic spleen, Hypocalcemia, Decreased skull ossification OMIM:602361
Acquired Aneurysmal Subarachnoid Hemorrhage
Memory impairment, Hyperglycemia, Leukocytosis, Addictive alcohol use, Hypercholesterolemia, Cogn... ORPHA:90065
Symptomatic Form Of Hfe-Related Hemochromatosis
Increased circulating ferritin concentration, Hyperglycemia, Portal hypertension, Splenomegaly, L... ORPHA:465508
Beta-Ketothiolase Deficiency
Ataxia, Hypoglycemia, Anorexia, Hyperglycemia, Leukocytosis, Hyperammonemia, Oral aversion, Hyper... ORPHA:134
Diabetes Mellitus, Permanent Neonatal, 3
Hyperglycemia, Type I diabetes mellitus, Athetosis, Glycosuria OMIM:618857
Insulin-Resistance Syndrome Type B
Postprandial hyperglycemia, Insulin resistance, Hypoalbuminemia, Biliary cirrhosis, Hypotriglycer... ORPHA:2298
Pyruvate Carboxylase Deficiency
Neonatal hyperbilirubinemia, Hyperglycemia, Ataxia, Hepatomegaly, Anorexia, Tip-toe gait, Dystoni... ORPHA:3008
Sandhoff Disease
Progressive psychomotor deterioration, Hepatosplenomegaly, Ataxia, Hepatomegaly, Exaggerated star... OMIM:268800
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures
Truncal titubation, Gait ataxia, Tremor, Dysmetria, Exaggerated startle response, Agitation OMIM:618056
Acth-Independent Macronodular Adrenal Hyperplasia 2
Osteoporosis, Hyperglycemia, Depression OMIM:615954
Patent Urachus
Recurrent urinary tract infections, Cystocele, Patent urachus, Congenital posterior urethral valv... ORPHA:431341
Tay-Sachs Disease
Dementia, Psychomotor deterioration, Exaggerated startle response OMIM:272800
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Broad-based gait, Short attention span, Ataxia, Dystonia, Exaggerated startle response ORPHA:438216
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type
Proteinuria, Heart murmur, Multiple bladder diverticula ORPHA:2728
Combined Oxidative Phosphorylation Deficiency 58
Hypoglycemia, Difficulty walking, Gait ataxia, Hyperprolinemia, Hyperalaninemia, Ataxia, Exaggera... OMIM:620451
Cutis Laxa, Autosomal Recessive, Type Ia
Aortic regurgitation, Bladder diverticulum, Supravalvular aortic stenosis 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
Multiple bladder diverticula, Urethral diverticulum, Congestive heart failure, Recurrent urinary ... ORPHA:90349
Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome
Multicystic kidney dysplasia, Fetal megacystis ORPHA:73246
Ciliary Dyskinesia, Primary, 53
Abdominal situs inversus, Hypoplastic spleen, Polysplenia OMIM:620642
Ehlers-Danlos Syndrome, Arthrochalasia Type, 2
Bladder diverticulum OMIM:617821
Gm2-Gangliosidosis, Ab Variant
Dementia, Dystonia, Exaggerated startle response OMIM:272750
Mitchell-Riley Syndrome
Annular pancreas, Pancreatic hypoplasia, Cholestasis, Hyperglycemia, Hyperbilirubinemia, Absent g... OMIM:615710
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Inability to walk, Exaggerated startle response OMIM:609541
Acro-Renal-Ocular Syndrome
Horseshoe kidney, Crossed fused renal ectopia, Vesicoureteral reflux, Renal hypoplasia/aplasia, B... ORPHA:959
Spastic Tetraplegia And Axial Hypotonia, Progressive
Ataxia, Exaggerated startle response OMIM:618598
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1
Decreased urinary lysyl-pyridinoline-hydroxylysyl-pyridinoline ratio, Gastrointestinal hemorrhage... OMIM:225400
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Difficulty walking, Exaggerated startle response ORPHA:320406
Asparagine Synthetase Deficiency
Tremor, Hypoasparaginemia, Exaggerated startle response, Irritability OMIM:615574
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Dysphagia, Cognitive impairment, Exaggerated startle response OMIM:617527
Pseudoleprechaunism Syndrome, Patterson Type
Bladder diverticulum ORPHA:2976
Hyperekplexia-Epilepsy Syndrome
Exaggerated startle response ORPHA:163985
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2
Tricuspid regurgitation, Bladder diverticulum, Mitral regurgitation OMIM:614557
Williams Syndrome
Mitral regurgitation, Hypertrophic cardiomyopathy, Renal insufficiency, Renal duplication, Multip... ORPHA:904
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1
Hydroureter, Renal agenesis, Ureterocele, Vesicoureteral reflux, Hydronephrosis, Bladder divertic... OMIM:129900
Microphthalmia, Syndromic 9
Multilobulated spleen, Hypoplastic spleen OMIM:601186
Occipital Horn Syndrome
Hydronephrosis, Ureteral obstruction, Bladder diverticulum, Orthostatic hypotension OMIM:304150
Kyphoscoliotic Ehlers-Danlos Syndrome
Subdural hemorrhage, Arterial rupture, Bladder diverticulum, Cerebral hemorrhage, Antenatal intra... 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
Bladder diverticulum, Gastrointestinal hemorrhage, 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
Aortic regurgitation, Unilateral renal agenesis, Congestive heart failure, Pyelonephritis, Mitral... ORPHA:90348
Williams-Beuren Syndrome
Renal hypoplasia, Enuresis, Nephrocalcinosis, Recurrent urinary tract infections, Renal artery st... OMIM:194050
Plaa-Associated Neurodevelopmental Disorder
Dystonia, Impaired oropharyngeal swallow response, 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
Dilatation of the renal pelvis, Right-to-left shunt, Hydroureter, Dilatation of the bladder, Hydr... OMIM:265380
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Dysphagia, Exaggerated startle response, Irritability OMIM:618367
Hyperekplexia 1
Exaggerated startle response OMIM:149400
Cutis Laxa, Autosomal Recessive, Type Ic
Hydronephrosis, Multiple bladder diverticula OMIM:613177
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Self-injurious behavior, Abnormal fear-induced behavior, Emotional lability, Aggressive behavior,... ORPHA:353281
Occipital Horn Syndrome
Bladder diverticulum, Recurrent urinary tract infections ORPHA:198
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Decreased circulating iron concentration, Broad-based gait, Osteopenia, Inability to walk, Stereo... ORPHA:438213
Classical Ehlers-Danlos Syndrome
Arterial rupture, Mitral regurgitation, Abnormal heart valve physiology, Bladder diverticulum, Or... ORPHA:287
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Self-injurious behavior, Abnormal fear-induced behavior, Emotional lability, Aggressive behavior,... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Self-injurious behavior, Abnormal fear-induced behavior, Emotional lability, Aggressive behavior,... ORPHA:353277
Vascular Ehlers-Danlos Syndrome
Hypospadias, Transient ischemic attack, Cystocele, Bladder diverticulum, Telangiectasia of the sk... 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
Mental deterioration, Difficulty walking, Tremor, Attention deficit hyperactivity disorder, Ataxi... ORPHA:442835
Brugada Syndrome
Trifascicular block, Supraventricular tachycardia, Syncope, Paroxysmal ventricular tachycardia, F... ORPHA:130
Familial Short Qt Syndrome
Atrioventricular block, Shortened QT interval, Palpitations, Syncope, Bradycardia, Ventricular ar... 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
Cacna2d1em1(IMPC)Mbp Exon Deletion Mice, Tissue
Cacna2d1tm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells
Cacna2d1tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells

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