Gene Summary

Name:
calcium channel, voltage-dependent, beta 2 subunit
Synonyms:
Cavbeta2,  Cchb2

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
abnormal heart morphology Cacnb2tm1.1(KOMP)Vlcg HOM Early adult 0.00
abnormal urinary bladder morphology Cacnb2tm1.1(KOMP)Vlcg HOM Early adult 0.00
impaired glucose tolerance Cacnb2tm1.1(KOMP)Vlcg HOM Early adult 3.45×10-14
decreased mean corpuscular volume Cacnb2tm1.1(KOMP)Vlcg HOM Early adult 5.64×10-09
enlarged heart Cacnb2tm1.1(KOMP)Vlcg HOM Early adult 0.00

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
Viewing: all phenotypes

lacZ Expression

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Adrenal gland  Section images heterozygote 100% (2 of 2)
Bone marrow  Section images heterozygote 50% (1 of 2)
Brown adipose tissue  Section images heterozygote 100% (2 of 2)
Cecum  Section images heterozygote 50% (1 of 2)
Cerebellum  Section images heterozygote 100% (2 of 2)
Colon  Section images heterozygote 50% (1 of 2)
Diaphragm  Section images heterozygote 100% (2 of 2)
Duodenum  Section images heterozygote 100% (2 of 2)
Epididymis  Section images heterozygote 50% (1 of 2)
Esophagus  Section images heterozygote 100% (2 of 2)
Eye  Section images heterozygote 100% (2 of 2)
Gonadal fat pad  Section images heterozygote 100% (2 of 2)
Harderian gland  Section images heterozygote 100% (2 of 2)
Ileum  Section images heterozygote 100% (2 of 2)
Kidney  Section images heterozygote 100% (2 of 2)
Liver  Section images heterozygote 100% (2 of 2)
Lung  Section images heterozygote 100% (2 of 2)
Mammary gland  Section images heterozygote 50% (1 of 2)
Mesenteric adipose tissue  Section images heterozygote 50% (1 of 2)
Midbrain  Section images heterozygote 100% (2 of 2)
Olfactory lobe  Section images heterozygote 50% (1 of 2)
Ovary  Section images heterozygote 50% (1 of 2)
Oviduct  Section images heterozygote 50% (1 of 2)
Pancreas  Section images heterozygote 100% (2 of 2)
Parotid gland  Section images heterozygote 50% (1 of 2)
Penis  Section images heterozygote 50% (1 of 2)
Quadriceps  Section images heterozygote 100% (2 of 2)
Sciatic nerve  Section images heterozygote 100% (2 of 2)
Spinal cord  Section images heterozygote 50% (1 of 2)
Spleen  Section images heterozygote 100% (2 of 2)
Stomach  Section images heterozygote 100% (2 of 2)
Sublingual gland  Section images heterozygote 50% (1 of 2)
Submandibular gland  Section images heterozygote 50% (1 of 2)
Testis  Section images heterozygote 50% (1 of 2)
Thyroid gland  Section images heterozygote 50% (1 of 2)
Tongue  Section images heterozygote 100% (2 of 2)
Trachea  Section images heterozygote 100% (2 of 2)
Trigeminal V nerve  Section images heterozygote 50% (1 of 2)
Urinary bladder  Section images heterozygote 100% (2 of 2)
Uterus  Section images heterozygote 50% (1 of 2)
Vas deferens  Section images heterozygote 50% (1 of 2)
Vesicular gland  Section images heterozygote 50% (1 of 2)
Aorta N/A heterozygote 0.0% (0 of 2)
Blood N/A heterozygote 0.0% (0 of 2)
Brain N/A heterozygote Not available
Brainstem N/A heterozygote Not available
Cartilage tissue N/A heterozygote Not available
Cerebral cortex N/A heterozygote Not available
Chest bone N/A heterozygote Not available
Gall bladder N/A heterozygote Not available
Heart N/A heterozygote Not available
Hindlimb N/A heterozygote Not available
Hippocampus N/A heterozygote Not available
Hypothalamus N/A heterozygote Not available
Jejunum N/A heterozygote Not available
Large intestine N/A heterozygote Not available
Lower urinary tract N/A heterozygote Not available
Lymph node N/A heterozygote Not available
Mesenteric lymph node N/A heterozygote 0.0% (0 of 2)
Parathyroid gland N/A heterozygote 0.0% (0 of 2)
Peripheral nervous system N/A heterozygote Not available
Peyer's patch N/A heterozygote Not available
Pituitary gland N/A heterozygote 0.0% (0 of 2)
Prostate gland N/A heterozygote Not available
Skeletal muscle N/A heterozygote Not available
Skin N/A heterozygote 0.0% (0 of 2)
Small intestine N/A heterozygote Not available
Stomach pyloric region N/A heterozygote Not available
Striatum N/A heterozygote Not available
Thymus N/A heterozygote 0.0% (0 of 2)
Vagina N/A heterozygote Not available
Vascular system N/A heterozygote Not available
White adipose tissue N/A heterozygote Not available
No Embryo expression data was found for this gene.

Background staining occurs in wild type mice and embryos at an incidental rate.

Anatomy Background staining in controls (WT)
adrenal gland 0.68% (4 of 585)
aorta 0.17% (1 of 585)
blood 0.0%
bone marrow 0.0%
brain 0.68% (4 of 585)
brainstem 0.34% (2 of 585)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 585)
cecum 3.23% (12 of 371)
cerebellum 0.51% (3 of 585)
cerebral cortex 0.34% (2 of 585)
chest bone Unavailable
colon 9.45% (12 of 127)
diaphragm 0.0%
duodenum 1.57% (2 of 127)
epididymis 13.43% (18 of 134)
esophagus 1.71% (7 of 409)
eye 0.0%
gall bladder 0.0%
gonadal fat pad 0.0%
harderian gland 0.0%
heart 0.34% (2 of 585)
hindlimb 0.0%
hippocampus 0.51% (3 of 585)
hypothalamus 0.34% (2 of 585)
ileum 11.02% (14 of 127)
jejunum 4.72% (6 of 127)
kidney 3.59% (21 of 585)
large intestine 1.71% (10 of 585)
liver 0.0%
lower urinary tract 0.17% (1 of 585)
lung 0.34% (2 of 585)
lymph node 0.17% (1 of 585)
mammary gland 0.0%
mesenteric adipose tissue 0.0%
mesenteric lymph node 0.0%
midbrain 0.0%
olfactory lobe 0.34% (2 of 585)
ovary 0.17% (1 of 585)
oviduct 0.0%
pancreas 0.85% (5 of 585)
parathyroid gland 0.18% (1 of 563)
parotid gland 0.0%
penis 0.0%
peripheral nervous system 0.34% (2 of 585)
peyers patch 0.0%
pituitary gland 0.17% (1 of 585)
prostate gland 2.05% (12 of 585)
quadriceps 0.0%
sciatic nerve 0.0%
skeletal muscle 0.0%
skin 0.17% (1 of 585)
small intestine 1.54% (9 of 585)
spinal cord 0.51% (3 of 585)
spleen 0.51% (3 of 585)
stomach 2.22% (13 of 585)
stomach pyloric region 0.0%
striatum 0.51% (3 of 585)
sublingual gland 0.0%
submandibular gland 1.52% (2 of 132)
testis 1.03% (6 of 585)
thymus 0.17% (1 of 585)
thyroid gland 2.91% (17 of 585)
tongue 3.94% (5 of 127)
trachea 0.51% (3 of 585)
trigeminal v nerve 0.0%
urinary bladder 0.0%
uterus 0.0%
vagina 0.0%
vas deferens 3.93% (15 of 382)
vascular system 0.0%
vesicular gland 0.0%
white adipose tissue 0.0%
No Embryo expression data was found for this gene.

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Adult LacZ

LacZ Images Section

140 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

Human diseases caused by Cacnb2 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 Cacnb2 by orthology or direct annotation.

The table below shows human diseases predicted to be associated to Cacnb2 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Ethanolaminosis
Cardiomegaly OMIM:227150
Dehydrated Hereditary Stomatocytosis 2
Hepatomegaly, Anisopoikilocytosis, Increased mean corpuscular volume, Acanthocytosis, Splenomegal... OMIM:616689
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia OMIM:252270
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Neutropenia, Increased mean corpuscular volume, Anemia, Acute myeloid leukemia, Pancytopenia, Thr... OMIM:619041
Insulinomatosis And Diabetes Mellitus
Hyperinsulinemic hypoglycemia, Glucose intolerance, Impaired glucose tolerance, Diabetes mellitus OMIM:147630
Intrinsic Factor Deficiency
Megaloblastic anemia, Megaloblastic erythroid hyperplasia, Increased mean corpuscular volume OMIM:261000
Diamond-Blackfan Anemia 6
Macrocytic anemia, Ventricular septal defect, Mitral valve prolapse, Increased mean corpuscular v... OMIM:612561
Diamond-Blackfan Anemia 3
Macrocytic anemia, Reticulocytopenia, Increased mean corpuscular volume, Persistence of hemoglobin F OMIM:610629
Dehydrated Hereditary Stomatocytosis
Congenital hemolytic anemia, Macrocytic anemia, Schistocytosis, Increased mean corpuscular volume... ORPHA:3202
Sickle Cell Anemia
Leukocytosis, Abnormality of the spleen, Thrombocytosis, Increased mean corpuscular volume, Iron ... ORPHA:232
Combined Oxidative Phosphorylation Deficiency 41
Cardiomegaly, Hypoglycemia, Anemia OMIM:618838
Hemochromatosis, Type 4
Hepatomegaly, Glucose intolerance, Impaired glucose tolerance, Anemia, Cardiomyopathy, Diabetes m... OMIM:606069
Diamond-Blackfan Anemia 8
Macrocytic anemia, Neutropenia, Increased mean corpuscular volume OMIM:612563
Familial Pseudohyperkalemia
Stomatocytosis, Episodic hemolytic anemia, Reticulocytosis, Increased mean corpuscular volume ORPHA:90044
Carnitine Deficiency, Systemic Primary
Hypertrophic cardiomyopathy, Hepatomegaly, Hypoglycemia, Endocardial fibroelastosis, Cardiomegaly... OMIM:212140
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Cardiomegaly ORPHA:88643
Attrv30M Amyloidosis
Abnormal renal physiology, Cardiomegaly, Cardiomyopathy, Nephropathy ORPHA:85447
Combined Oxidative Phosphorylation Deficiency 33
Hepatomegaly, Nephrotic syndrome, Cardiomegaly, Cardiomyopathy, Left ventricular hypertrophy OMIM:617713
Congenital Toxoplasmosis
Anemia, Thrombocytopenia, Cardiomegaly, Hepatomegaly ORPHA:858
Congenitally Uncorrected Transposition Of The Great Arteries
Hepatomegaly, Ventricular septal defect, Maternal diabetes, Biventricular hypertrophy, Abnormal m... ORPHA:860
Bone Marrow Failure Syndrome 6
Neutropenia, Increased mean corpuscular volume, Anemia, Persistence of hemoglobin F, Lymphopenia OMIM:618849
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Dilated cardiomyopathy, Hepatomegaly, Hypoketotic hypoglycemia, Cardiomegaly OMIM:600649
Timothy Syndrome
Ventricular septal defect, Hypoglycemia, Cardiomegaly, Tetralogy of Fallot, Patent foramen ovale OMIM:601005
Congenital Dyserythropoietic Anemia Type Iii
Increased mean corpuscular volume, Anemia, Anisocytosis, Poikilocytosis, Abnormal erythrocyte mor... ORPHA:98870
Hemochromatosis, Type 1
Hepatomegaly, Glucose intolerance, Cardiomegaly, Cardiomyopathy, Splenomegaly, Diabetes mellitus OMIM:235200
Cardiomyopathy, Familial Hypertrophic 27
Cardiomegaly OMIM:618052
Infantile Sialic Acid Storage Disease
Hepatomegaly, Nephrotic syndrome, Vacuolated lymphocytes, Cardiomegaly, Splenomegaly OMIM:269920
Neuraminidase Deficiency
Hepatomegaly, Vacuolated lymphocytes, Cardiomegaly, Cardiomyopathy, Urinary excretion of sialylat... OMIM:256550
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Cardiomegaly OMIM:300886
Sickle Cell Anemia
Leukocytosis, Hepatomegaly, Hematuria, Cardiomegaly, Splenomegaly, Increased red cell sickling te... OMIM:603903
Myopathy, Congenital, With Structured Cores And Z-Line Abnormalities
Cardiomegaly OMIM:618654
Pseudo-Torch Syndrome 3
Leukocytosis, Cardiomegaly, Anemia, Acute kidney injury, Congenital thrombocytopenia, Proteinuria OMIM:618886
Diamond-Blackfan Anemia 7
Horseshoe kidney, Ventricular septal defect, Macrocytic anemia, Neutropenia, Increased mean corpu... OMIM:612562
Ectodermal Dysplasia-Syndactyly Syndrome 2
Cardiomegaly OMIM:613576
Attrv122I Amyloidosis
Hypertrophic cardiomyopathy, Cardiac amyloidosis, Restrictive cardiomyopathy, Cardiomegaly, Anemi... ORPHA:85451
Oslam Syndrome
Abnormality of neutrophils, Increased mean corpuscular volume ORPHA:2760
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Hepatomegaly, Cardiomegaly, Anisocytosis, Chronic hemolytic anemia, Poikilocytosis, Reticulocytos... OMIM:618278
Familial Atrial Myxoma
Cardiomegaly, Bacterial endocarditis, Cardiac myxoma, Pulmonic valve myxoma ORPHA:615
Carnitine Palmitoyltransferase I Deficiency
Cardiomegaly, Renal tubular acidosis, Hypoketotic hypoglycemia, Hepatomegaly OMIM:255120
Cardiomyopathy, Familial Hypertrophic, 4
Hypertrophic cardiomyopathy, Hepatomegaly, Pericardial effusion, Ventricular hypertrophy, Cardiom... OMIM:115197
Danon Disease
Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Cardiomegaly, Myocardial necrosis, Myocardia... OMIM:300257
Congenital Tricuspid Valve Dysplasia
Hepatomegaly, Pericardial effusion, Right ventricular hypertrophy, Cardiomegaly, Tricuspid valve ... ORPHA:555874
Mucopolysaccharidosis, Type Iiib
Hepatomegaly, Cardiomegaly, Splenomegaly, Heparan sulfate excretion in urine, Asymmetric septal h... OMIM:252920
Mitochondrial Complex I Deficiency, Nuclear Type 36
Perimembranous ventricular septal defect, Cardiomegaly OMIM:619170
Blackfan-Diamond Anemia
Hypospadias, Horseshoe kidney, Ventricular septal defect, Thrombocytosis, Neutropenia, Elevated r... ORPHA:124
Fixed Subaortic Stenosis
Bicuspid aortic valve, Ventricular septal defect, Bacterial endocarditis, Atrioventricular canal ... ORPHA:3092
Neurooculocardiogenitourinary Syndrome
Cardiomegaly, Ventricular septal defect, Atrial septal defect, Patent foramen ovale OMIM:618652
Shwachman-Diamond Syndrome
Chronic neutropenia, Macrocytic anemia, Hepatomegaly, Neutropenia, Normocytic anemia, Leukopenia,... ORPHA:811
Mulibrey Nanism
Cardiomegaly, Hepatomegaly, Myocardial fibrosis, Pericardial constriction OMIM:253250
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Hypoglycemia, Cardiomegaly, Dicarboxylic aciduria, Elevated urinary 3-hydroxybutyri... ORPHA:42
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Hypertrophic cardiomyopathy, Hepatomegaly, Cardiomegaly, Exercise-induced myoglobinuria, Dicarbox... OMIM:201475
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Hepatomegaly, Cardiomegaly OMIM:619064
Gaucher Disease, Type Iiic
Hepatomegaly, Mitral valve calcification, Cardiomegaly, Mitral stenosis, Splenomegaly, Aortic val... OMIM:231005
Alpha-N-Acetylgalactosaminidase Deficiency
Oligosacchariduria, Cardiomegaly ORPHA:3137
Mody
Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemic hypoglycemia, Glucose intole... ORPHA:552
Idiopathic Pulmonary Hemosiderosis
Hepatomegaly, Iron deficiency anemia, Cardiomegaly, Hepatosplenomegaly, Glomerulonephritis ORPHA:99931
Heterotaxy, Visceral, 1, X-Linked
Dextrocardia, Horseshoe kidney, Ventricular septal defect, Asplenia, Mitral atresia, Double outle... OMIM:306955
Methylcobalamin Deficiency Type Cble
Macrocytic anemia, Neutropenia, Increased mean corpuscular volume, Hemolytic-uremic syndrome, Pan... ORPHA:2169
Methylmalonic Aciduria And Homocystinuria, Cbld Type
Homocystinuria, Megaloblastic anemia, Increased mean corpuscular volume, Methylmalonic aciduria OMIM:277410
Glycogen Storage Disease Of Heart, Lethal Congenital
Cardiomyopathy, Cardiomegaly, Biventricular hypertrophy, Neonatal hypoglycemia OMIM:261740
Refsum Disease, Classic
Abnormal renal physiology, Cardiomegaly, Cardiomyopathy OMIM:266500
Brugada Syndrome
Paroxysmal ventricular tachycardia, Syncope, Ventricular arrhythmia, Supraventricular tachycardia... ORPHA:130
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Hypertrophic cardiomyopathy, Ventricular hypertrophy, Cardiomegaly OMIM:619051
Coronary Arterial Fistula
Bicuspid aortic valve, Bacterial endocarditis, Right ventricular dilatation, Abnormal heart morph... ORPHA:2041
Hsd10 Disease, Infantile Type
Hypertrophic cardiomyopathy, Hypoglycemia, Cardiomegaly, Abnormal concentration of acylcarnitine ... ORPHA:391428
Aorta Coarctation
Bicuspid aortic valve, Perimembranous ventricular septal defect, Cardiomegaly, Abnormal left vent... ORPHA:1457
Cantu Syndrome
Congenital hypertrophy of left ventricle, Bicuspid aortic valve, Cardiomegaly, Pericardial effusion OMIM:239850
Symptomatic Form Of Hemochromatosis Type 1
Hepatomegaly, Hyperglycemia, Cardiomegaly, Cardiomyopathy, Splenomegaly, Diabetes mellitus ORPHA:465508
Leigh Syndrome With Nephrotic Syndrome
Tubulointerstitial nephritis, Heavy proteinuria, Nephrotic syndrome, Renal tubular acidosis, Rena... ORPHA:255249
Amyloidosis, Hereditary, Transthyretin-Related
Urinary incontinence, Cardiomegaly, Cardiomyopathy OMIM:105210
16Q24.3 Microdeletion Syndrome
Dilated cardiomyopathy, Thrombocytopenia, Ventricular septal defect, Increased mean corpuscular v... ORPHA:261250
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Dilated cardiomyopathy, Hepatomegaly, Ureteral duplication, Hydronephrosis, Cardiomegaly, Polycys... OMIM:608836
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Cystic renal dysplasia, Hepatomegaly, Myoglobinuria, Tubulointerstitial nephritis, Hypoketotic hy... ORPHA:228308
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Hypospadias, Hypertrophic cardiomyopathy, Ventricular septal defect, Hydronephrosis, Cardiomegaly... OMIM:616897
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Cardiomegaly, Abnormal atrioventricular valve morphology, Aortic valve stenosis, Mitral valve pro... ORPHA:324410
Isolated Right Ventricular Hypoplasia
Cardiomegaly, Right atrial enlargement, Atrial septal defect, Muscular ventricular septal defect,... ORPHA:439
Histiocytosis-Lymphadenopathy Plus Syndrome
Hepatomegaly, Ventricular septal defect, Mitral valve prolapse, Cardiomegaly, Pulmonic stenosis, ... OMIM:602782
Lethal Congenital Contracture Syndrome 10
Ventricular septal defect, Cardiomegaly, Overriding aorta, Hypoplasia of the thymus OMIM:617022
Craniofaciofrontodigital Syndrome
Bicuspid aortic valve, Ventricular septal defect, Pericardial effusion, Cardiomegaly, Atrial sept... ORPHA:363705
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Cardiomegaly OMIM:613320
Fucosidosis
Hepatomegaly, Vacuolated lymphocytes, Cardiomegaly, Splenomegaly, Oligosacchariduria OMIM:230000
Gaucher Disease, Perinatal Lethal
Hepatomegaly, Anemia, Cardiomegaly, Splenomegaly, Hepatosplenomegaly, Thrombocytopenia OMIM:608013
Congenital Disorder Of Glycosylation, Type It
Dilated cardiomyopathy, Hepatomegaly, Hydronephrosis, Ventricular septal defect, Hypoglycemia, Ca... OMIM:614921
Complete Atrioventricular Septal Defect
Complete atrioventricular canal defect, Primum atrial septal defect, Hepatomegaly, Displacement o... ORPHA:1329
Beck-Fahrner Syndrome
Ventricular septal defect, Cardiomegaly OMIM:618798
Brugada Syndrome 4
Syncope, Shortened QT interval, Atrial fibrillation OMIM:611876
Fucosidosis
Hepatomegaly, Mucopolysacchariduria, Cardiomegaly ORPHA:349
Familial Aortic Dissection
Cardiomegaly ORPHA:229
Mogs-Cdg
Hepatomegaly, Cardiomegaly, Left ventricular hypertrophy, Hepatosplenomegaly, Atrial septal defec... ORPHA:79330
Sandhoff Disease
Hepatomegaly, Urinary incontinence, Hepatosplenomegaly, Cardiomegaly OMIM:268800
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy
3-Methylglutaconic aciduria, Cardiomegaly, Cardiomyopathy OMIM:619259
Cirrhotic Cardiomyopathy
Left atrial enlargement, Hepatomegaly, Cardiomegaly, Left ventricular hypertrophy, Right atrial e... ORPHA:57777
Beckwith-Wiedemann Syndrome
Renal cortical cysts, Hepatomegaly, Pancreatic hyperplasia, Nephrocalcinosis, Cardiomegaly, Nephr... OMIM:130650
Craniofaciofrontodigital Syndrome
Abnormal heart morphology, Cardiomegaly OMIM:114620
Glycogen Storage Disease Ii
Hepatomegaly, Cardiomegaly, Splenomegaly OMIM:232300
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Hypertrophic cardiomyopathy, Hepatomegaly, Cardiomegaly, Oligosacchariduria, Left ventricular hyp... ORPHA:308552
Eisenmenger Syndrome
Bacterial endocarditis, Ventricular septal defect, Hepatomegaly, Hypochromic microcytic anemia, I... ORPHA:97214
Hypertrichotic Osteochondrodysplasia, Cantu Type
Hypertrophic cardiomyopathy, Abnormal heart valve morphology, Cardiomegaly ORPHA:1517
Naxos Disease
Dilated cardiomyopathy, Abnormal morphology of right ventricular trabeculae, Right ventricular ca... OMIM:601214
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Right ventricular hypertrophy, Pollakisuria, Cardiomegaly ORPHA:268
Truncus Arteriosus
Ventricular septal defect, Truncus arteriosus, Right ventricular hypertrophy, Abnormal heart morp... ORPHA:3384
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Bicuspid aortic valve, Mitral valve prolapse, Cardiomegaly, Left ventricular hypertrophy, Atrial ... OMIM:245600
Lethal Acantholytic Erosive Disorder
Cardiomegaly, Cardiomyopathy ORPHA:158687
Mucolipidosis Ii Alpha/Beta
Hypertrophic cardiomyopathy, Hepatomegaly, Mucopolysacchariduria, Cardiomegaly, Splenomegaly OMIM:252500
Beckwith-Wiedemann Syndrome
Hypertrophic cardiomyopathy, Hepatomegaly, Ureteral duplication, Hypoglycemia, Polycythemia, Cong... ORPHA:116
Paternal Uniparental Disomy Of Chromosome 6
Hepatomegaly, Ventricular septal defect, Neonatal insulin-dependent diabetes mellitus, Cardiomegaly ORPHA:96191
Abetalipoproteinemia
Hepatomegaly, Acanthocytosis, Cardiomegaly, Anemia, Reticulocytosis ORPHA:14
Absence Of The Pulmonary Artery
Truncus arteriosus, Abnormal heart morphology, Cardiomegaly, Atrial septal defect, Tetralogy of F... ORPHA:980
Mucopolysaccharidosis Type 3
Hepatomegaly, Mucopolysacchariduria, Abnormal mitral valve morphology, Abnormal aortic valve morp... ORPHA:581
Developmental And Epileptic Encephalopathy 95
Hepatomegaly, Cardiomegaly OMIM:618143
Aicardi-Goutières Syndrome
Hypertrophic cardiomyopathy, Chronic lymphatic leukemia, Cardiomegaly, Micropenis, Hepatosplenome... ORPHA:51
Histiocytoid Cardiomyopathy
Hepatomegaly, Ventricular septal defect, Hypoglycemia, Cardiomegaly, Renal cyst ORPHA:137675
Familial Idiopathic Dilatation Of The Right Atrium
Hepatomegaly, Atrial septal dilatation, Right ventricular hypertrophy, Cardiomegaly, Right atrial... ORPHA:1677
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome
Cardiomegaly ORPHA:2463
Congenital Tracheomalacia
Ventricular septal defect, Abnormal heart morphology, Single ventricle, Cardiomegaly, Atrial sept... ORPHA:95430
Greenberg Dysplasia
Hepatomegaly, Hepatosplenomegaly, Cardiomegaly, Extramedullary hematopoiesis OMIM:215140
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Left ventricular noncompaction cardiomyopathy, Ventricular septal defect, Right ventricular hyper... OMIM:300967
Proteasome-Associated Autoinflammatory Syndrome 1
Hepatomegaly, Impaired glucose tolerance, Cardiomegaly, Splenomegaly, Microcytic anemia, Thromboc... OMIM:256040
Congenital Total Pulmonary Venous Return Anomaly
Dextrocardia, Hepatomegaly, Ventricular septal defect, Mixed total anomalous pulmonary venous con... ORPHA:99125
Bohring-Opitz Syndrome
Cardiomegaly, Abnormal cardiac septum morphology, Urinary retention ORPHA:97297
Williams Syndrome
Bicuspid aortic valve, Overriding aorta, Hypercalciuria, Hypertrophic cardiomyopathy, Ventricular... ORPHA:904
Tropical Endomyocardial Fibrosis
Left atrial enlargement, Hepatomegaly, Myocardial calcification, Endocardial fibrosis, Coronary a... ORPHA:75565
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Bicuspid aortic valve, Cardiomegaly ORPHA:91387
Glycogen Storage Disease Due To Acid Maltase Deficiency
Hypertrophic cardiomyopathy, Hepatomegaly, Cardiomegaly, Oligosacchariduria, Left ventricular hyp... ORPHA:365
Alpha-N-Acetylgalactosaminidase Deficiency Type 2
Cardiomegaly ORPHA:79280
Yunis-Varon Syndrome
Hypospadias, Ventricular septal defect, Renovascular hypertension, Cardiomegaly, Cardiomyopathy, ... ORPHA:3472
Generalized Arterial Calcification Of Infancy
Hyperphosphaturia, Myocardial calcification, Pericardial effusion, Nephrocalcinosis, Ventricular ... ORPHA:51608
Singleton-Merten Syndrome 1
Mitral valve calcification, Cardiomegaly, Subvalvular aortic stenosis, Aortic valve calcification... OMIM:182250

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 Cacnb2

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 Cacnb2.

No publications found that use IMPC mice or data for Cacnb2.

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MGI Allele Allele Type Produced
Cacnb2tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Cacnb2tm1.1(KOMP)Vlcg Reporter-tagged deletion allele (post Cre, with no selection cassette) Mice, Tissue
Cacnb2tm39259(L1L2_gt0) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Cacnb2tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Cacnb2tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) Mice, ES Cells

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