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Gene: Cacna1e MGI:106217

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Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
calcium channel, voltage-dependent, R type, alpha 1E subunit
Synonyms:
Cav2.3,  alpha1E,  Cchra1

Order Alleles

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

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.

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.

Phenotype associated images not available

Human diseases caused by Cacna1e 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 Cacna1e by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Developmental And Epileptic Encephalopathy 69
OMIM:618285

The table below shows human diseases predicted to be associated to Cacna1e by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Maturity-Onset Diabetes Of The Young, Type 3
Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young OMIM:600496
Maturity-Onset Diabetes Of The Young, Type 10
Hyperglycemia, Diabetes mellitus, Maturity-onset diabetes of the young, Diabetic ketoacidosis OMIM:613370
Hyperinsulinemic Hypoglycemia, Familial, 2
Nesidioblastosis, Hyperinsulinemic hypoglycemia, Pancreatic islet-cell hyperplasia, Hypoglycemia OMIM:601820
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemia, Hyperinsulinemia, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia,... OMIM:610021
Mahvash Disease
Pancreatic alpha-cell hyperplasia, Recurrent pancreatitis, Type II diabetes mellitus, Increased g... OMIM:619290
Maturity-Onset Diabetes Of The Young, Type 4
Type II diabetes mellitus, Maturity-onset diabetes of the young OMIM:606392
Maturity-Onset Diabetes Of The Young, Type 7
Type II diabetes mellitus, Maturity-onset diabetes of the young OMIM:610508
Hyperinsulinemic Hypoglycemia, Familial, 1
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia, Pancreatic islet-cell hyperplasia OMIM:256450
Type 1 Diabetes Mellitus 15
Type I diabetes mellitus, Diabetes mellitus OMIM:601666
Maturity-Onset Diabetes Of The Young, Type 11
Obesity, Overweight, Maturity-onset diabetes of the young OMIM:613375
Diabetes Mellitus, Ketosis-Prone
Insulin resistance, Diabetes mellitus, Beta-cell dysfunction OMIM:612227
Diabetes Mellitus, Transient Neonatal, 1
Transient neonatal diabetes mellitus, Hyperglycemia, Severe failure to thrive OMIM:601410
Type 1 Diabetes Mellitus 6
Diabetes mellitus OMIM:601941
Type 1 Diabetes Mellitus 10
Diabetes mellitus OMIM:601942
Diabetes Mellitus, Transient Neonatal, 2
Transient neonatal diabetes mellitus, Type II diabetes mellitus OMIM:610374
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Abnormal circulating insulin concentration, Hypoketotic hypoglycemia, Large for gestational age, ... ORPHA:293964
Glycogen Storage Disease 0, Liver
Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia OMIM:240600
Hypogonadism, Male, With Impaired Intellectual Development And Skeletal Anomalies
Hyperglycemia, Male hypogonadism, Glucose intolerance, Hypergonadotropic hypogonadism OMIM:307500
Hyperproinsulinemia
Hyperglycemia, Hyperinsulinemia OMIM:616214
Hyperinsulinemic Hypoglycemia, Familial, 6
Hypoglycemic seizures, Abnormality of the pancreatic islet cells, Hyperinsulinemic hypoglycemia OMIM:606762
Diabetes Mellitus, Permanent Neonatal, 4
Hyperglycemia, Type I diabetes mellitus, Small for gestational age, Diabetic ketoacidosis OMIM:618858
Transient Neonatal Diabetes Mellitus
Maturity-onset diabetes of the young, Failure to thrive, Hyperglycemia, Transient neonatal diabet... ORPHA:99886
Maturity-Onset Diabetes Of The Young, Type 13
Maturity-onset diabetes of the young, Hyperglycemia, Abnormality of body mass index, Maternal dia... OMIM:616329
Gcgr-Related Hyperglucagonemia
Cholelithiasis, Glucagonoma, Abnormal biliary tract morphology, Neoplasm of the pancreas, Increas... ORPHA:438274
Diabetes Mellitus, Permanent Neonatal, 1
Hyperglycemia, Type I diabetes mellitus, Diabetes mellitus, Small for gestational age OMIM:606176
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Hypoglycemia, Large for gestational age, Obesity, Fasting hypoglycemia, Truncal obesity, Hypoinsu... OMIM:240900
RCAD (renal cysts and diabetes)
Abnormality of the liver, Diabetes mellitus DECIPHER:47
Short Stature Due To Primary Acid-Labile Subunit Deficiency
Insulin resistance, Decreased serum insulin-like growth factor 1, Delayed puberty, Truncal obesity ORPHA:140941
Mody
Abnormal circulating insulin concentration, Abnormal oral glucose tolerance, Glycosuria, Insulin-... ORPHA:552
Type 2 Diabetes Mellitus
Insulin resistance, Increased waist to hip ratio, Type II diabetes mellitus OMIM:125853
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction
Exocrine pancreatic insufficiency, Hyperglycemia, Maturity-onset diabetes of the young OMIM:609812
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive
Hyperglycemia OMIM:618970
Pandas
Depression, Abnormal fear-induced behavior, Oppositional defiant disorder, Obsessive-compulsive t... ORPHA:66624
Insulinomatosis And Diabetes Mellitus
Insulinoma, Type II diabetes mellitus, Multiple pancreatic beta-cell adenomas, Hyperinsulinemic h... OMIM:147630
Hyperinsulinemic Hypoglycemia, Familial, 3
Hypoglycemic seizures, Diabetes mellitus, Hyperinsulinemic hypoglycemia OMIM:602485
Diabetes Mellitus, Transient Neonatal, 3
Transient neonatal diabetes mellitus, Hyperglycemia, Maternal diabetes OMIM:610582
Diabetes Mellitus, Permanent Neonatal, 2
Hyperglycemia, Type I diabetes mellitus OMIM:618856
Diabetes Mellitus, Permanent Neonatal, 3
Hyperglycemia, Type I diabetes mellitus, Small for gestational age, Glycosuria OMIM:618857
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Precocious puberty, Postprandial hyperglycemia, Insulin-resistant diabetes mellitus, Hypoglycemia... OMIM:262190
Acth-Independent Macronodular Adrenal Hyperplasia 2
Increased circulating cortisol level, Increased urinary cortisol level, Decreased circulating ACT... OMIM:615954
Type 1 Diabetes Mellitus
Hyperglycemia, Diabetes mellitus OMIM:222100
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency
Hypoglycemia ORPHA:35701
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Abnormal circulating insulin concentration, Elevated circulating thyroid-stimulating hormone conc... ORPHA:171706
Coronary Artery Disease, Autosomal Dominant, 1
Obesity, Diabetes mellitus OMIM:608320
Diabetes And Deafness, Maternally Inherited
Hyperglycemia, Type II diabetes mellitus OMIM:520000
Hjv Or Hamp-Related Hemochromatosis
Hypogonadism, Abnormality of endocrine pancreas physiology, Congenital hepatic fibrosis, Diabetes... ORPHA:79230
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Hyperinsulinemia, Hypoketotic hypoglycemia, Reactive hypoglycemia, Pancreatic islet-cell hyperpla... ORPHA:276608
Lipodystrophy, Familial Partial, Type 1
Hepatomegaly, Hyperglycemia, Acute pancreatitis, Insulin-resistant diabetes mellitus OMIM:608600
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Diffuse pancreatic islet hyperplasia, Increased circulating cortisol level, Recurrent hypoglycemi... ORPHA:79644
Cortisone Reductase Deficiency 2
Insulin resistance, Obesity, Low tetrahydrocortisol (THF) plus 5-alpha-THF/tetrahydrocortisone (T... OMIM:614662
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Diffuse pancreatic islet hyperplasia, Type I diabetes mellitus, Hyperinsulinemia, Excessive insul... ORPHA:276580
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Diffuse pancreatic islet hyperplasia, Type I diabetes mellitus, Hyperinsulinemia, Excessive insul... ORPHA:276575
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Postprandial hyperglycemia, Ketotic hypoglycemia, Glycosuria, Failure to thrive ORPHA:2089
Abdominal Obesity-Metabolic Syndrome 3
Hyperglycemia, Type II diabetes mellitus, Truncal obesity, Abdominal obesity OMIM:615812
Lipodystrophy, Familial Partial, Type 3
Insulin resistance, Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Type II... OMIM:604367
Bilateral Parasagittal Parieto-Occipital Polymicrogyria
Aggressive behavior, Abnormal fear-induced behavior, Pseudobulbar paralysis ORPHA:208441
Hyperinsulinism Due To Insr Deficiency
Insulin resistance, Hypoglycemia, Fasting hyperinsulinemia, Recurrent hypoglycemia, Hyperinsuline... ORPHA:263458
Hyperinsulinism Due To Hnf1A Deficiency
Hypoglycemic seizures, Maturity-onset diabetes of the young, Hyperinsulinemia, Excessive insulin ... ORPHA:324575
Obesity Due To Melanocortin 4 Receptor Deficiency
Hyperinsulinemia, Type II diabetes mellitus, Childhood-onset truncal obesity, Obesity ORPHA:71529
Obesity And Hypopigmentation
Overgrowth, Hyperinsulinemia, Obesity, Hepatic steatosis OMIM:620195
Insulinoma
Abnormality of the pancreatic islet cells, Neuroendocrine neoplasm, Pituitary prolactin cell aden... ORPHA:97279
Body Mass Index Quantitative Trait Locus 20
Tall stature, Hyperinsulinemia, Obesity OMIM:618406
Obesity Due To Prohormone Convertase I Deficiency
Failure to thrive, Decreased response to growth hormone stimulation test, Cholestasis, Hyperinsul... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Failure to thrive, Decreased response to growth hormone stimulation test, Cholestasis, Hyperinsul... ORPHA:71526
Thyroid Hormone Resistance, Generalized, Autosomal Recessive
Small for gestational age, Elevated circulating thyroid-stimulating hormone concentration, Goiter... OMIM:274300
Hyperinsulinism Due To Ucp2 Deficiency
Diffuse pancreatic islet hyperplasia, Recurrent hypoglycemia, Excessive insulin response to gluca... ORPHA:276556
Bardet-Biedl Syndrome 9
Hyperglycemia, Obesity, Truncal obesity OMIM:615986
Insulin Autoimmune Syndrome
Insulin resistance, Insulin-resistant diabetes mellitus, Reactive hypoglycemia, Weight loss, Nonk... ORPHA:411593
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial
Impaired gluconeogenesis, Hepatic steatosis, Hypoglycemia OMIM:261650
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Hyperglycemia OMIM:604484
Combined Oxidative Phosphorylation Deficiency 54
Hyperglycemia, Obesity, Hypergonadotropic hypogonadism OMIM:619737
Donohue Syndrome
Precocious puberty, Postprandial hyperglycemia, Hepatic fibrosis, Cholestasis, Hyperglycemia, Hyp... OMIM:246200
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Hyperinsulinemia, Obesity ORPHA:329249
Intellectual Developmental Disorder, Autosomal Recessive 54
Attention deficit hyperactivity disorder, Emotional lability, Exaggerated startle response OMIM:617028
Insulin-Resistance Syndrome Type B
Postprandial hyperglycemia, Insulin resistance, Biliary cirrhosis, Abnormal circulating leptin co... ORPHA:2298
Hypertriglyceridemia 1
Hypopituitarism, Glucose intolerance OMIM:145750
Multiple Endocrine Neoplasia Type 4
Increased circulating cortisol level, Pituitary prolactin cell adenoma, Increased urinary cortiso... ORPHA:276152
Coronary Artery Disease, Autosomal Dominant 2
Glucose intolerance, Type II diabetes mellitus, Impaired glucose tolerance OMIM:610947
Bardet-Biedl Syndrome 11
Hypogonadism, Obesity OMIM:615988
Obesity
Obesity, Increased waist to hip ratio OMIM:601665
Blue Diaper Syndrome
Increased proinsulin:insulin ratio, Elevated circulating thyroid-stimulating hormone concentratio... ORPHA:94086
Morbid Obesity And Spermatogenic Failure
Insulin resistance, Obesity, Type II diabetes mellitus, Hepatic steatosis OMIM:615703
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Abnormal fear-induced behavior, Irritability, Aggressive behavior, Hyperactivity, Anorexia, Abnor... ORPHA:3077
Hypokalemic Periodic Paralysis
Postprandial hyperglycemia, Adrenocortical adenoma ORPHA:681
Obesity Due To Sim1 Deficiency
Hyperinsulinemia, Glucose intolerance, Obesity ORPHA:369873
Mitchell-Riley Syndrome
Annular pancreas, Pancreatic hypoplasia, Cholestasis, Hyperglycemia, Absent gallbladder, Biliary ... OMIM:615710
Proprotein Convertase 1/3 Deficiency
Elevated circulating proinsulin concentration, Obesity, Reactive hypoglycemia, Hypogonadotropic h... OMIM:600955
Bardet-Biedl Syndrome 2
Hypogonadism, Obesity, Diabetes mellitus OMIM:615981
Spermatogenic Failure, X-Linked, 1
Obesity OMIM:305700
Hypothyroidism, Central, With Testicular Enlargement
Hypothyroidism, Overweight, Reduced circulating prolactin concentration, Inappropriately normal t... OMIM:300888
Mitochondrial Complex Iii Deficiency, Nuclear Type 6
Hyperglycemia, Failure to thrive, Hypoglycemia OMIM:615453
Triglyceride Storage Disease, Type Ii
Obesity OMIM:190430
Fanconi-Bickel Syndrome
Postprandial hyperglycemia, Glycosuria, Failure to thrive, Abnormal hepatic glycogen storage, Inc... ORPHA:2088
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Glycosuria, Hypoketotic hypoglycemia, Hyperinsulinemia, Pancreatic islet-cell hyperplasia, Increa... ORPHA:263455
Cole Disease
Hyperglycemia OMIM:615522
Symptomatic Form Of Hfe-Related Hemochromatosis
Decreased serum testosterone concentration, Hyperglycemia, Portal hypertension, Splenomegaly, Hyp... ORPHA:465508
Leptin Receptor Deficiency
Decreased response to growth hormone stimulation test, Obesity, Delayed puberty, Pituitary hypoth... OMIM:614963
Non-Acquired Isolated Growth Hormone Deficiency
Delayed puberty, Abdominal obesity, Prolonged neonatal jaundice, Neonatal hypoglycemia, Anterior ... ORPHA:631
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Decreased response to growth hormone stimulation test, Cholestasis, Adrenal insufficiency, Obesit... OMIM:609734
Body Mass Index Quantitative Trait Locus 19
Insulin resistance, Hyperinsulinemia, Increased serum leptin, Obesity OMIM:617885
Pancreatic Agenesis 2
Exocrine pancreatic insufficiency, Diabetes mellitus, Pancreatic hypoplasia, Pancreatic aplasia OMIM:615935
Greig Cephalopolysyndactyly Syndrome
Hyperglycemia OMIM:175700
Bardet-Biedl Syndrome 10
Hypogonadism, Obesity OMIM:615987
Zollinger-Ellison Syndrome
Hyperparathyroidism, Thyroid adenoma, Pituitary adenoma, Increased circulating cortisol level, Pi... ORPHA:913
Hemochromatosis, Type 4
Glucose intolerance, Hepatic steatosis, Cirrhosis, Hepatomegaly, Diabetes mellitus, Impaired gluc... OMIM:606069
Pancreatic And Cerebellar Agenesis
Pancreatic hypoplasia, Hypoglycemia, Failure to thrive, Hyperglycemia, Diabetes mellitus, Pancrea... OMIM:609069
Bdv Syndrome
Central hypothyroidism, Decreased serum testosterone concentration, Hyperinsulinemia, Obesity, Ty... OMIM:619326
Isolated Permanent Neonatal Diabetes Mellitus
Neonatal insulin-dependent diabetes mellitus, Glycosuria, Pancreatic hypoplasia, Failure to thriv... ORPHA:99885
Short Syndrome
Insulin resistance, Insulin-resistant diabetes mellitus, Hyperglycemia, Glucose intolerance, Smal... OMIM:269880
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia
Absence of pubertal development, Obesity, Hypogonadotropic hypogonadism, Diabetes mellitus OMIM:610628
Mehmo Syndrome
Male hypogonadism, Hypoglycemia, Decreased response to growth hormone stimulation test, Obesity, ... OMIM:300148
Narcolepsy 7
Obesity, Type II diabetes mellitus OMIM:614250
Temple Syndrome
Precocious puberty, Recurrent hypoglycemia, Decreased response to growth hormone stimulation test... ORPHA:254516
Polyendocrine-Polyneuropathy Syndrome
Central hypothyroidism, Hypoglycemia, Decreased serum testosterone concentration, Decreased testi... ORPHA:453533
Maturity-Onset Diabetes Of The Young, Type 14
Diabetes mellitus, Maturity-onset diabetes of the young OMIM:616511
Mehmo Syndrome
Obesity, Diabetes mellitus ORPHA:85282
Necrotizing Enterocolitis
Hyperglycemia, Peritonitis, Small for gestational age, Abnormal glucose homeostasis ORPHA:391673
Estrogen Resistance
Breast aplasia, Hyperinsulinemia, Glucose intolerance, Increased serum estradiol, Polycystic ovar... OMIM:615363
Mandibuloacral Dysplasia With Type B Lipodystrophy
Hyperglycemia, Hyperinsulinemia, Glucose intolerance, Insulin-resistant diabetes mellitus OMIM:608612
Low Phospholipid-Associated Cholelithiasis
Intrahepatic cholestasis, Cholelithiasis, Biliary cirrhosis, Obesity, Cholecystitis, Sclerosing c... ORPHA:69663
Hereditary Chronic Pancreatitis
Pancreatic calcification, Jaundice, Recurrent pancreatitis, Diabetes mellitus ORPHA:676
Dend Syndrome
Hyperglycemia ORPHA:79134
Tropical Calcific Pancreatitis
Pancreatic calcification, Insulin-dependent but ketosis-resistant diabetes, Chronic pancreatitis,... OMIM:608189
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome
Hypogonadism, Obesity, Abnormality of the thyroid gland, Eunuchoid habitus, Type II diabetes mell... ORPHA:2234
Beta-Ketothiolase Deficiency
Hepatomegaly, Hyperglycemia, Weight loss, Hypoglycemia ORPHA:134
Lipodystrophy, Familial Partial, Type 2
Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Type II diabetes mellitus, ... OMIM:151660
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Abnormality of exocrine pancreas physiology, Hepatic steatosis, Aplasia/Hypoplasia of the pancrea... ORPHA:93111
Pancreatitis, Hereditary
Exocrine pancreatic insufficiency, Pancreatic calcification, Pancreatitis, Diabetes mellitus, Pan... OMIM:167800
Acquired Aneurysmal Subarachnoid Hemorrhage
Hypopituitarism, Hyperglycemia, Hypothyroidism ORPHA:90065
Alstrom Syndrome
Insulin-resistant diabetes mellitus, Decreased response to growth hormone stimulation test, Hyper... OMIM:203800
Bardet-Biedl Syndrome 6
Obesity, Diabetes mellitus OMIM:605231
Adrenocortical Carcinoma
Increased circulating cortisol level, Increased urinary cortisol level, Hyperaldosteronism, Incre... ORPHA:1501
Hypothyroidism, Congenital, Nongoitrous, 6
Congenital hypothyroidism, Increased body weight, Increased T3/T4 ratio, Increased body mass inde... OMIM:614450
Pigmented Nodular Adrenocortical Disease, Primary, 4
Increased circulating cortisol level, Primary hypercortisolism, Adrenal hyperplasia, Increased bo... OMIM:615830
Obesity Due To Congenital Leptin Deficiency
Decreased serum estradiol, Insulin-resistant diabetes mellitus, Absence of secondary sex characte... ORPHA:66628
Tropical Pancreatitis
Insulin-dependent but ketosis-resistant diabetes, Pancreatic adenocarcinoma, Chronic calcifying p... ORPHA:103918
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Congenital hypothyroidism, Obesity ORPHA:88643
Idiopathic Neonatal Atrial Flutter
Large for gestational age, Maternal diabetes ORPHA:45452
Isolated Sedoheptulokinase Deficiency
Cholestatic liver disease, Postprandial hyperglycemia, Hepatitis, Cholestasis, Portal hypertension ORPHA:440713
Laurence-Moon Syndrome
Obesity, Type II diabetes mellitus, Congenital hepatic fibrosis ORPHA:2377
Obesity Due To Leptin Receptor Gene Deficiency
Decreased serum estradiol, Insulin-resistant diabetes mellitus, Absence of secondary sex characte... ORPHA:179494
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Precocious puberty, Obesity, Maturity-onset diabetes of the young ORPHA:254531
Rabson-Mendenhall Syndrome
Precocious puberty, Postprandial hyperglycemia, Insulin resistance, Insulin-resistant diabetes me... ORPHA:769
Microduplication Xp11.22P11.23 Syndrome
Precocious puberty, Obesity ORPHA:217377
Thyrotoxic Periodic Paralysis
Postprandial hyperglycemia, Graves disease, Obesity, Weight loss, Hyperhidrosis, Hyperthyroidism,... ORPHA:79102
Hepatic Veno-Occlusive Disease
Hepatomegaly, Jaundice, Increased body weight ORPHA:890
Gm2 Gangliosidosis, Ab Variant
Abnormal fear-induced behavior, Inappropriate behavior, Exaggerated startle response ORPHA:309246
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Hyperinsulinemia, Type II diabetes mellitus, Hypergonadotropic hypogonadism, Obesity ORPHA:3085
Prolactin Deficiency With Obesity And Enlarged Testes
Obesity, Reduced circulating prolactin concentration OMIM:264120
Bardet-Biedl Syndrome 22
Hypogonadism, Obesity, Large for gestational age OMIM:617119
Fanconi-Bickel Syndrome
Postprandial hyperglycemia, Intrahepatic cholestasis, Glycosuria, Failure to thrive, Fasting hypo... OMIM:227810
Temple Syndrome
Precocious puberty, Maturity-onset diabetes of the young, Obesity, Truncal obesity, Overweight, S... OMIM:616222
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Glycosuria, Hypoglycemia, Large for gestational age, Hepatomegaly, Diabetes mellitus OMIM:616026
Hypogonadotropic Hypogonadism 27 Without Anosmia
Reduced response to gonadotropin-releasing hormone stimulation test, Absence of pubertal developm... OMIM:619755
Abdominal Obesity-Metabolic Syndrome 4
Obesity, Type II diabetes mellitus OMIM:618620
Mandibuloacral Dysplasia With Type A Lipodystrophy
Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Hepatomegaly, Impaired gluc... OMIM:248370
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Hepatic fibrosis, Cholestasis, Obesity, Glucose intolerance, Splenomegaly, Hepatomegaly, Impaired... OMIM:615630
Morgagni-Stewart-Morel Syndrome
Obesity, Abnormality of the thyroid gland, Hypothyroidism, Abnormality of the endocrine system, D... ORPHA:77296
Porphyria Due To Ala Dehydratase Deficiency
Depression, Restlessness, Abnormal fear-induced behavior, Agitation ORPHA:100924
Biemond Syndrome Type 2
Hypogonadism, Hypogonadotropic hypogonadism, Obesity, Delayed puberty ORPHA:141333
Leptin Deficiency Or Dysfunction
Hypogonadism, Obesity, Decreased serum leptin OMIM:614962
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus
Hepatomegaly, Type I diabetes mellitus, Reduced pancreatic beta cells, Insulin-resistant diabetes... OMIM:226980
Multiple Mitochondrial Dysfunctions Syndrome 7
Hyperglycemia, Hypoglycemia OMIM:620423
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Periportal fibrosis, Failure to thrive, Hypoglycemia, Recurrent hypoglycemia, Cholestasis, Hyperg... OMIM:124000
Cortisone Reductase Deficiency 1
Precocious puberty, Obesity OMIM:604931
Acrodysostosis 2 With Or Without Hormone Resistance
Congenital hypothyroidism, Diabetes mellitus, Obesity OMIM:614613
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Precocious puberty, Maturity-onset diabetes of the young, Obesity, Truncal obesity, Small for ges... ORPHA:96184
Leprechaunism
Postprandial hyperglycemia, Insulin resistance, Central hypothyroidism, Failure to thrive, Hypera... ORPHA:508
Pyruvate Carboxylase Deficiency
Hepatomegaly, Hyperglycemia, Failure to thrive, Hypoglycemia ORPHA:3008
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Pituitary adenoma, Increased circulating cortisol level, Neuroendocrine neoplasm, Increased urina... ORPHA:189427
Subaortic Stenosis-Short Stature Syndrome
Obesity, Type II diabetes mellitus, Biliary tract abnormality ORPHA:3191
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Premature adrenarche, Central hypothyroidism, Increased circulating prolactin concentration, Decr... ORPHA:293987
Resistance To Thyrotropin-Releasing Hormone Syndrome
Increased circulating prolactin concentration, Decreased circulating T4 concentration, Reduced ra... ORPHA:99832
Seckel Syndrome 10
Insulin resistance, Acute pancreatitis, Elevated circulating luteinizing hormone level, Glycosuri... OMIM:617253
Heart Defects, Congenital, And Other Congenital Anomalies
Pancreatic hypoplasia, Glycosuria, Failure to thrive, Hyperglycemia, Absent gallbladder, Biliary ... OMIM:600001
Bardet-Biedl Syndrome 8
Hypogonadism, Obesity OMIM:615985
Progressive Supranuclear Palsy
Depression, Emotional lability, Irritability, Dysphagia, Impulsivity, Abnormal synaptic transmission ORPHA:683
Atypical Werner Syndrome
Glycosuria, Insulin-resistant diabetes mellitus, Fasting hyperinsulinemia, Abnormal circulating l... ORPHA:79474
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hepatic fibrosis, Portal fibrosis, Failure to thrive, Hypoglycemia, Cholestasis, Hepatic steatosi... ORPHA:264580
Pituitary Adenoma 4, Acth-Secreting
Pituitary adenoma, Increased circulating ACTH level, Obesity, Glucose intolerance, Abdominal obes... OMIM:219090
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Hepatic fibrosis, Recurrent hypoglycemia, Splenomegaly, Increased body weight, Ketotic hypoglycem... ORPHA:79240
Pseudohypoparathyroidism, Type Ib
Obesity, Elevated circulating parathyroid hormone level, Pseudohypoparathyroidism OMIM:603233
9Q31.1Q31.3 Microdeletion Syndrome
Overweight, Type II diabetes mellitus ORPHA:401923
Perlman Syndrome
Cryptorchidism, Pancreatic islet-cell hyperplasia, Hypoglycemia OMIM:267000
Dysbetalipoproteinemia
Acute pancreatitis, Obesity, Hepatic steatosis, Hypothyroidism, Hepatomegaly, Diabetes mellitus ORPHA:412
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Decreased response to growth hormone stimulation test, Hyperglycemia, Obesity, Hypothyroidism ORPHA:444077
Wilson Disease
Hepatitis, Failure to thrive, Acute hepatitis, Hepatic steatosis, Splenomegaly, Increased body we... ORPHA:905
Scorpion Envenomation
Hyperglycemia, Hyperhidrosis, Acute pancreatitis, Glycosuria ORPHA:466677
Phip-Related Behavioral Problems-Intellectual Disability-Obesity-Dysmorphic Features Syndrome
Increased body weight ORPHA:589905
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia
Obesity, Neonatal hypoglycemia OMIM:608624
Tyrosinemia, Type I
Hypoglycemia, Splenomegaly, Pancreatic islet-cell hyperplasia, Cirrhosis, Hepatomegaly, Hepatocel... OMIM:276700
Sotos Syndrome
Tall stature, Glucose intolerance, Increased body weight, Overgrowth, Prolonged neonatal jaundice... OMIM:117550
Aromatase Deficiency
Insulin resistance, Tall stature, Obesity, Type II diabetes mellitus, Hepatic steatosis, Eunuchoi... ORPHA:91
Septo-Optic Dysplasia Spectrum
Obesity, Hypohidrosis, Maternal diabetes, Anterior pituitary hypoplasia, Diabetes insipidus, Abno... ORPHA:3157
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Failure to thrive, Hypoglycemia, Hyperglycemia, Microvesicular hepatic steatosis, Small for gesta... OMIM:220111
Sheehan Syndrome
Decreased serum estradiol, Secondary growth hormone deficiency, Adrenocorticotropin deficient adr... ORPHA:91355
Bardet-Biedl Syndrome
Insulin resistance, Hepatic fibrosis, Hypogonadism, Obesity, Impaired fasting glucose, Type II di... ORPHA:110
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Ectopic posterior pituitary, Hypoglycemia, Hypopituitarism, Decreased circulating T4 concentratio... ORPHA:226307
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome
Secondary growth hormone deficiency, Absence of secondary sex characteristics, Hypothalamic gonad... ORPHA:2235
Perrault Syndrome 4
Decreased serum estradiol, Obesity, Hypoplasia of the ovary, Increased circulating gonadotropin l... OMIM:615300
Renal Cysts And Diabetes Syndrome
Maturity-onset diabetes of the young, Glycosuria, Pancreatic hypoplasia, Exocrine pancreatic insu... OMIM:137920
Magel2-Related Prader-Willi-Like Syndrome
Precocious puberty, Small pituitary gland, Xerostomia, Central hypothyroidism, Failure to thrive,... ORPHA:398069
Retinitis Pigmentosa
Hypogonadism, Hyperinsulinemia, Type II diabetes mellitus, Obesity ORPHA:791
Craniopharyngioma
Increased circulating prolactin concentration, Hypopituitarism, Hypogonadism, Obesity, Central ad... ORPHA:54595
Smith-Magenis Syndrome
Increased body weight, Abnormality of the thyroid gland OMIM:182290
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Acute hepatic steatosis, Hepatitis, Cholestasis, Obesity, Hepatic steatosis, Cholesterol gallston... ORPHA:209902
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type
Increased body weight OMIM:300860
Cushing Disease
Increased circulating cortisol level, Increased urinary cortisol level, Increased circulating ACT... ORPHA:96253
Simpson-Golabi-Behmel Syndrome
Polysplenia, Hypoglycemia, Supernumerary nipple, Splenomegaly, Pancreatic islet-cell hyperplasia,... ORPHA:373
Odontochondrodysplasia 2 With Hearing Loss And Diabetes
Precocious puberty, Type I diabetes mellitus, Obesity OMIM:619269
Greenberg Dysplasia
Hepatomegaly, Hepatosplenomegaly, Pancreatic islet-cell hyperplasia, Hepatic calcification OMIM:215140
Cushing Syndrome Due To Ectopic Acth Secretion
Increased circulating cortisol level, Increased urinary cortisol level, Adrenal hyperplasia, Incr... ORPHA:99889
Gaisböck Syndrome
Obesity, Cholecystitis, Overweight, Diabetes mellitus, Increased circulating renin level ORPHA:90041
Pruritic Urticarial Papules And Plaques Of Pregnancy
Increased body weight ORPHA:64745
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Self-injurious behavior, Abnormal fear-induced behavior, Emotional lability, Aggressive behavior,... ORPHA:353281
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
Carney Complex
Euthyroid multinodular goiter, Precocious puberty, Increased circulating insulin-like growth fact... ORPHA:1359
Simpson-Golabi-Behmel Syndrome, Type 1
Polysplenia, Supernumerary nipple, Splenomegaly, Pancreatic islet-cell hyperplasia, Cryptorchidis... OMIM:312870
Hellp Syndrome
Increased body weight ORPHA:244242
Developmental And Epileptic Encephalopathy 69
OMIM:618285

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 Cacna1e

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 Cacna1e.

No publications found that use IMPC mice or data for Cacna1e.

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
Cacna1etm174226(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors

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