Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
cell cycle activator and apoptosis regulator 2
Synonyms:
Dbc1,  2610301G19Rik

IMPC Data Collections

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

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.

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 Ccar2 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.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Ccar2 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Type 2 Diabetes Mellitus
Type II diabetes mellitus, Insulin resistance, Increased waist to hip ratio OMIM:125853
Glycine N-Methyltransferase Deficiency
Hepatomegaly, Elevated hepatic transaminase OMIM:606664
Multiple Symmetric Lipomatosis
Multiple lipomas, Abnormal adipose tissue morphology, Insulin resistance, Gait disturbance ORPHA:2398
Short Stature Due To Primary Acid-Labile Subunit Deficiency
Decreased serum insulin-like growth factor 1, Delayed puberty, Insulin resistance, Truncal obesity ORPHA:140941
Hyperinsulinemic Hypoglycemia, Familial, 3
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia, Diabetes mellitus OMIM:602485
Hyperinsulinism Due To Insr Deficiency
Hypoglycemia, Insulin resistance, Recurrent hypoglycemia, Fasting hyperinsulinemia, Hyperinsuline... ORPHA:263458
Insulin Autoimmune Syndrome
Fasting hypoglycemia, Nonketotic hypoglycemia, Insulin resistance, Reactive hypoglycemia, Insulin... ORPHA:411593
Obesity Due To Melanocortin 4 Receptor Deficiency
Hyperinsulinemia, Obesity, Increased adipose tissue, Hypertriglyceridemia, Childhood-onset trunca... ORPHA:71529
Hyperinsulinemic Hypoglycemia, Familial, 1
Large for gestational age, Hypoglycemic seizures, Pancreatic islet-cell hyperplasia, Hyperinsulin... OMIM:256450
Hyperinsulinemic Hypoglycemia, Familial, 2
Large for gestational age, Pancreatic islet-cell hyperplasia, Hypoglycemia, Hyperinsulinemic hypo... OMIM:601820
Hyperinsulinemic Hypoglycemia, Familial, 5
Fasting hyperinsulinemia, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:609968
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemic seizures, Hypoglycemia, Hyperinsulinemia, Pancreatic islet-cell hyperplasia, Hyperin... OMIM:610021
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Large for gestational age, Hypoglycemic seizures, Neonatal hypoglycemia, Nonketotic hypoglycemia,... ORPHA:293964
Cortisone Reductase Deficiency 2
Obesity, Premature pubarche, Insulin resistance OMIM:614662
Insulinomatosis And Diabetes Mellitus
Multiple pancreatic beta-cell adenomas, Hyperinsulinemic hypoglycemia, Diabetes mellitus, Glucose... OMIM:147630
Hyperinsulinemic Hypoglycemia, Familial, 4
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:609975
Hyperinsulinism Due To Glucokinase Deficiency
Recurrent hypoglycemia, Fasting hyperinsulinemia, Hypoketotic hypoglycemia, Type II diabetes mell... ORPHA:79299
Plin1-Related Familial Partial Lipodystrophy
Abnormal circulating hormone concentration, Loss of gluteal subcutaneous adipose tissue, Hyperins... ORPHA:280356
Growth Hormone Insensitivity Syndrome
Hypoglycemia, Insulin resistance, Diabetes insipidus, Hypercholesterolemia, Truncal obesity, Fail... ORPHA:181393
Diabetes Mellitus, Ketosis-Prone
Beta-cell dysfunction, Insulin resistance, Diabetes mellitus OMIM:612227
Combined Oxidative Phosphorylation Deficiency 16
Microvesicular hepatic steatosis, Elevated hepatic transaminase OMIM:615395
Hyperinsulinism Due To Hnf1A Deficiency
Large for gestational age, Ketotic hypoglycemia, Hypoglycemic seizures, Neonatal hypoglycemia, Fa... ORPHA:324575
Acanthosis Nigricans With Muscle Cramps And Acral Enlargement
Insulin resistance OMIM:200170
Hypoglycemia, Leucine-Induced
Hypoglycemia, Hyperinsulinemic hypoglycemia, Ataxia OMIM:240800
Morbid Obesity And Spermatogenic Failure
Insulin resistance, Hypercholesterolemia, Obesity, Type II diabetes mellitus, Hypertriglyceridemia OMIM:615703
Obesity Due To Prohormone Convertase I Deficiency
Gonadotropin deficiency, Hypoglycemic seizures, Pituitary hypothyroidism, Hyperinsulinemia, Obesi... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Gonadotropin deficiency, Hypoglycemic seizures, Pituitary hypothyroidism, Hyperinsulinemia, Obesi... ORPHA:71526
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Large for gestational age, Hypoglycemic seizures, Fasting hypoglycemia, Excessive insulin respons... ORPHA:276580
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Fasting hypoglycemia, Hyperinsulinemia, Pancreatic islet-cell hyperplasia, Reactive hypoglycemia,... ORPHA:276608
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Fasting hypoglycemia, Obesity, Increased circulating T4 level, Decreased circulating free T3, Abn... ORPHA:171706
Homozygous 11P15-P14 Deletion Syndrome
Failure to thrive, Hypoglycemia, Hyperinsulinemia OMIM:606528
Familial Partial Lipodystrophy, Köbberling Type
Hyperinsulinemia, Diabetes mellitus, Lipoatrophy, Insulin resistance ORPHA:79084
Obesity
Obesity, Decreased resting energy expenditure, Increased waist to hip ratio OMIM:601665
Lipodystrophy, Familial Partial, Type 4
Lipodystrophy, Insulin resistance, Lipoatrophy, Insulin-resistant diabetes mellitus, Hypertriglyc... OMIM:613877
Nephropathy, Progressive Tubulointerstitial, With Cholestatic Liver Disease
Elevated hepatic transaminase, Cholestatic liver disease OMIM:602114
Lipodystrophy, Familial Partial, Type 3
Lipodystrophy, Insulin resistance, Loss of gluteal subcutaneous adipose tissue, Hyperinsulinemia,... OMIM:604367
Lipodystrophy, Congenital Generalized, Type 3
Lipodystrophy, Insulin resistance, Hypercholesterolemia, Generalized lipodystrophy, Reduced subcu... OMIM:612526
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Large for gestational age, Hypoglycemic seizures, Fasting hypoglycemia, Excessive insulin respons... ORPHA:276575
Akt2-Related Familial Partial Lipodystrophy
Lipodystrophy, Hyperlipidemia, Insulin resistance, Insulin-resistant diabetes mellitus, Decreased... ORPHA:79085
Body Mass Index Quantitative Trait Locus 19
Obesity, Hyperlipidemia, Insulin resistance OMIM:617885
Hyperproinsulinemia
Hyperglycemia, Hyperinsulinemia OMIM:616214
Hypertriglyceridemia, Transient Infantile
Hepatic steatosis, Splenomegaly, Hepatomegaly, Elevated hepatic transaminase, Hepatic fibrosis OMIM:614480
Lipe-Related Familial Partial Lipodystrophy
Lipodystrophy, Hyperlipidemia, Insulin resistance, Loss of gluteal subcutaneous adipose tissue, D... ORPHA:435660
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1
Delayed thelarche, Delayed puberty, Hyperinsulinemic hypoglycemia, Dorsocervical fat pad OMIM:616033
Lipodystrophy, Familial Partial, Type 6
Lipodystrophy, Hyperlipidemia, Insulin resistance, Diabetes mellitus, Abdominal obesity OMIM:615980
Transient Neonatal Diabetes Mellitus
Diabetic ketoacidosis, Hypothyroidism, Small for gestational age, Failure to thrive, Transient ne... ORPHA:99886
Obesity Due To Sim1 Deficiency
Glucose intolerance, Obesity, Hyperinsulinemia ORPHA:369873
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Obesity, Hyperinsulinemia ORPHA:329249
Body Mass Index Quantitative Trait Locus 20
Obesity, Hyperinsulinemia OMIM:618406
Severe Neurodegenerative Syndrome With Lipodystrophy
Insulin resistance, Hyperinsulinemia, Reduced intraabdominal adipose tissue, Generalized lipodyst... ORPHA:363400
Mandibuloacral Dysplasia
Insulin resistance, Hyperinsulinemia, Increased subcutaneous truncal adipose tissue, Hypercholest... ORPHA:2457
Hyperinsulinemic Hypoglycemia, Familial, 6
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:606762
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Diabetic ketoacidosis, Fasting hypoglycemia, Hypoglycemia, Hyperinsulinemia, Small for gestationa... OMIM:262190
Obesity Due To Congenital Leptin Deficiency
Hyperinsulinemia, Obesity, Decreased serum estradiol, Decreased serum testosterone concentration,... ORPHA:66628
Acquired Partial Lipodystrophy
Lipoatrophy, Insulin resistance ORPHA:79087
Hyperinsulinism Due To Ucp2 Deficiency
Large for gestational age, Hypoglycemic seizures, Excessive insulin response to glucagon test, Re... ORPHA:276556
Obesity Due To Leptin Receptor Gene Deficiency
Hyperinsulinemia, Obesity, Decreased serum estradiol, Decreased serum testosterone concentration,... ORPHA:179494
Insulinoma
Nonketotic hypoglycemia, Hyperinsulinemia, Recurrent hypoglycemia, Pituitary prolactin cell adeno... ORPHA:97279
Estrogen Resistance
Glucose intolerance, Impaired glucose tolerance, Hyperinsulinemia OMIM:615363
Coronary Artery Disease, Autosomal Dominant 2
Hyperlipidemia, Hypercholesterolemia, Diabetes mellitus, Hypertriglyceridemia, Glucose intoleranc... OMIM:610947
Hyperinsulinism-Hyperammonemia Syndrome
Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia, Reactive hypoglycemia ORPHA:35878
Portal Hypertension, Noncirrhotic, 1
Elevated hepatic transaminase, Portal hypertension, Hepatomegaly, Splenomegaly OMIM:617068
Retinitis Pigmentosa
Atypical scarring of skin, Hyperinsulinemia, Obesity, Type II diabetes mellitus, Hypogonadism ORPHA:791
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Elevated circulating alanine aminotransferase concentration, Cholestasis, Hepatic bridging fibros... OMIM:619658
Glycogen Storage Disease Ixa1
Elevated hepatic transaminase, Hepatomegaly OMIM:306000
Lipodystrophy, Familial Partial, Type 1
Lipodystrophy, Loss of gluteal subcutaneous adipose tissue, Increased subcutaneous truncal adipos... OMIM:608600
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Keloids, Hyperinsulinemia, Obesity, Type II diabetes mellitus, Hypergonadotropic hypogonadism ORPHA:3085
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Large for gestational age, Multiple pancreatic beta-cell adenomas, Neonatal hypoglycemia, Abnorma... ORPHA:79644
Congenital Generalized Lipodystrophy
Lipodystrophy, Precocious puberty in females, Insulin resistance, Hyperinsulinemia, Hypercholeste... ORPHA:528
Bdv Syndrome
Hypogonadotropic hypogonadism, Decreased circulating follicle stimulating hormone concentration, ... OMIM:619326
Bile Acid Conjugation Defect 1
Elevated circulating alanine aminotransferase concentration, Hepatic failure, Elevated circulatin... OMIM:619232
Lipodystrophy, Familial Partial, Type 2
Lipodystrophy, Hyperinsulinemia, Hypercholesterolemia, Loss of truncal subcutaneous adipose tissu... OMIM:151660
Congenital Disorder Of Glycosylation, Type Iip
Hepatic steatosis, Decreased liver function, Elevated hepatic transaminase, Elevated circulating ... OMIM:616829
Gallbladder Disease 1
Cholelithiasis, Cholangitis, Cholecystitis, Cholesterol gallstones, Jaundice, Elevated hepatic tr... OMIM:600803
Macrophage Activation Syndrome
Increased circulating interleukin 6 concentration, Increased circulating lactate dehydrogenase co... ORPHA:158061
Mody
Large for gestational age, Glycosuria, Neonatal hypoglycemia, Obesity, Overweight, Insulin-resist... ORPHA:552
Cholestasis, Intrahepatic, Of Pregnancy, 1
Abnormal liver function tests during pregnancy, Intrahepatic cholestasis, Elevated hepatic transa... OMIM:147480
Bangstad Syndrome
Primary gonadal insufficiency, Hypothyroidism, Hyperinsulinemia, Ataxia, Abnormality of the parat... ORPHA:1227
Mandibuloacral Dysplasia With Type B Lipodystrophy
Flexion contracture, Hyperlipidemia, Hyperinsulinemia, Decreased adipose tissue around neck, Loss... OMIM:608612
Sclerosing Cholangitis, Neonatal
Biliary cirrhosis, Sclerosing cholangitis, Portal hypertension, Cholestasis, Splenomegaly, Hepato... OMIM:617394
Glycogen Storage Disease Vi
Increased hepatic glycogen content, Elevated hepatic transaminase, Hepatomegaly OMIM:232700
Congenital Disorder Of Glycosylation, Type Iir
Hepatic steatosis, Decreased liver function, Hepatomegaly, Jaundice, Decreased circulating antibo... OMIM:301045
Hyperinsulinism Due To Hnf4A Deficiency
Large for gestational age, Glycosuria, Fasting hypoglycemia, Neonatal hypoglycemia, Hyperinsuline... ORPHA:263455
Disorder Of Bile Acid Synthesis
Abnormality of the liver, Elevated hepatic transaminase, Biliary tract abnormality, Cholestasis ORPHA:79168
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Lipodystrophy, Flexion contracture, Insulin resistance, Diabetes mellitus, Hypertriglyceridemia, ... OMIM:615381
Cholestasis-Lymphedema Syndrome
Splenomegaly, Hepatomegaly, Jaundice, Elevated hepatic transaminase, Cirrhosis, Neonatal cholesta... OMIM:214900
Bile Acid Synthesis Defect, Congenital, 3
Hepatic failure, Splenomegaly, Hepatomegaly, Jaundice, Intrahepatic cholestasis, Hepatitis, Eleva... OMIM:613812
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Microvesicular hepatic steatosis, Hepatic failure, Cholestasis, Jaundice, Elevated hepatic transa... OMIM:617156
Insulin-Resistance Syndrome Type B
Glycosuria, Diabetic ketoacidosis, Decreased body weight, Fasting hypoglycemia, Insulin resistanc... ORPHA:2298
Alpha-1-Antitrypsin Deficiency
Cirrhosis, Hepatocellular carcinoma, Elevated hepatic transaminase OMIM:613490
Cholestasis, Progressive Familial Intrahepatic, 3
Bile duct proliferation, Splenomegaly, Hepatomegaly, Jaundice, Intrahepatic cholestasis, Portal f... OMIM:602347
Bile Acid Synthesis Defect, Congenital, 5
Hepatic failure, Portal hypertension, Splenomegaly, Hepatomegaly, Jaundice, Portal fibrosis, Elev... OMIM:616278
Congenital Bile Acid Synthesis Defect Type 1
Splenomegaly, Hepatomegaly, Jaundice, Biliary tract abnormality, Elevated hepatic transaminase, C... ORPHA:79301
Mandibuloacral Dysplasia With Type A Lipodystrophy
Lipodystrophy, Flexion contracture, Hyperlipidemia, Hyperinsulinemia, Increased facial adipose ti... OMIM:248370
Biliary Atresia, Extrahepatic
Bile duct proliferation, Atretic gallbladder, Hepatomegaly, Jaundice, Extrahepatic biliary duct a... OMIM:210500
Familial Partial Lipodystrophy, Dunnigan Type
Lipodystrophy, Cellulitis, Insulin resistance, Lipoatrophy, Diabetes mellitus, Hypertriglyceridem... ORPHA:2348
Galactokinase Deficiency
Hypoglycemia, Hyperinsulinemia, Small for gestational age, Hypercholesterolemia, Failure to thriv... ORPHA:79237
Protoporphyria, Erythropoietic, X-Linked
Cholelithiasis, Elevated hepatic transaminase OMIM:300752
Bile Acid Synthesis Defect, Congenital, 4
Hepatic failure, Hepatomegaly, Intrahepatic cholestasis, Giant cell hepatitis, Prolonged neonatal... OMIM:214950
Pparg-Related Familial Partial Lipodystrophy
Insulin resistance, Maternal diabetes, Lipoatrophy, Insulin-resistant diabetes mellitus, Diabetes... ORPHA:79083
Congenital Bile Acid Synthesis Defect Type 3
Elevated circulating alanine aminotransferase concentration, Hepatic failure, Hepatosplenomegaly,... ORPHA:79302
Placental Insufficiency
Hypoxemia, Insulin resistance, Small for gestational age ORPHA:439167
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Elevated circulating growth hormone concentration, Insulin resistance, Insulin-resistant diabetes... ORPHA:90301
Hepatitis, Fulminant Viral, Susceptibility To
Hepatic failure, Hepatomegaly, Jaundice, Elevated hepatic transaminase, Fulminant hepatitis OMIM:618549
Perlman Syndrome
Inguinal hernia, Femoral hernia, Hyperinsulinemia ORPHA:2849
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Glucose intolerance, Hyperglycemia, Male hypogonadism, Hypergonadotropic hypogonadism OMIM:307500
Liver Failure, Infantile, Transient
Microvesicular hepatic steatosis, Hepatomegaly, Jaundice, Acute hepatic failure, Elevated hepatic... OMIM:613070
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Hepatic failure, Cholestasis, Hepatomegaly, Jaundice, Elevated hepatic transaminase OMIM:618528
Primary Lipodystrophy
Lipodystrophy, Hyperlipidemia, Insulin resistance, Lipoatrophy, Type II diabetes mellitus ORPHA:90970
Donohue Syndrome
Fasting hypoglycemia, Hyperinsulinemia, Pancreatic islet-cell hyperplasia, Adipose tissue loss, S... OMIM:246200
Telangiectasia, Hereditary Hemorrhagic, Type 5
Portal hypertension, Elevated hepatic transaminase OMIM:615506
Short Stature, Dauber-Argente Type
Fasting hyperinsulinemia OMIM:619489
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Lipodystrophy, Minimal subcutaneous fat, Insulin resistance, Increased facial adipose tissue, Dec... ORPHA:280365
Cholestasis, Progressive Familial Intrahepatic, 6
Periportal fibrosis, Elevated gamma-glutamyltransferase level, Intrahepatic cholestasis, Elevated... OMIM:619484
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Hypoglycemia, Insulin resistance, Small for gestational age, Truncal obesity, Failure to thrive, ... ORPHA:73272
Familial Multiple Lipomatosis
Lipodystrophy, Hyperlipidemia, Increased adipose tissue, Insulin resistance ORPHA:199276
Congenital Disorder Of Glycosylation, Type Iio
Hepatic failure, Hepatosplenomegaly, Elevated alkaline phosphatase of bone origin, Splenomegaly, ... OMIM:616828
Parenteral Nutrition-Associated Cholestasis
Cholelithiasis, Hepatic steatosis, Hepatic failure, Portal hypertension, Elevated gamma-glutamylt... ORPHA:567983
X-Linked Acrogigantism
Diabetes insipidus, Increased serum insulin-like growth factor 1, Hypopituitarism, Decreased thyr... ORPHA:300373
Hyperlipoproteinemia, Type Iv
Hypopituitarism, Glucose intolerance, Hypertriglyceridemia OMIM:144600
Hypertriglyceridemia 1
Hypopituitarism, Glucose intolerance, Hypertriglyceridemia OMIM:145750
Short Syndrome
Lipodystrophy, Insulin resistance, Inguinal hernia, Abnormal dental enamel morphology, Diabetes m... ORPHA:3163
Benign Recurrent Intrahepatic Cholestasis
Cholelithiasis, Jaundice, Elevated hepatic transaminase, Cholestatic liver disease, Pancreatitis,... ORPHA:65682
Acquired Generalized Lipodystrophy
Insulin resistance, Hyperinsulinemia, Generalized lipodystrophy, Insulin-resistant diabetes melli... ORPHA:79086
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome
Primary gonadal insufficiency, Hypertriglyceridemia, Insulin-resistant diabetes mellitus ORPHA:436182
Bile Acid Synthesis Defect, Congenital, 2
Hepatic failure, Splenomegaly, Hepatomegaly, Jaundice, Intrahepatic cholestasis, Elevated hepatic... OMIM:235555
Bangstad Syndrome
Primary gonadal insufficiency, Small for gestational age, Insulin-resistant diabetes mellitus, Pr... OMIM:210740
Familial Hemophagocytic Lymphohistiocytosis
Increased circulating interleukin 6 concentration, Abnormality of serum cytokine level, Abnormali... ORPHA:540
Lipodystrophy, Congenital Generalized, Type 4
Lipodystrophy, Flexion contracture, Insulin resistance, Hyperinsulinemia, Failure to thrive, Hype... OMIM:613327
Cholestasis, Progressive Familial Intrahepatic, 8
Sclerosing cholangitis, Portal hypertension, Elevated circulating alanine aminotransferase concen... OMIM:619662
Growth Factors, Combined Defect Of
Lipodystrophy, Flexion contracture, Reduced subcutaneous adipose tissue, Insulin-resistant diabet... OMIM:233805
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Hypoglycemic seizures, Neonatal hypoglycemia, Lethargy, Failure to thrive, Hypoketotic hypoglycem... ORPHA:71212
Cidec-Related Familial Partial Lipodystrophy
Lipodystrophy, Hyperlipidemia, Loss of gluteal subcutaneous adipose tissue, Decreased serum lepti... ORPHA:435651
Estrogen Resistance Syndrome
Abnormal circulating hormone concentration, Hyperinsulinemia, Absence of pubertal development, In... ORPHA:785
Short Stature, Microcephaly, And Endocrine Dysfunction
Hypothyroidism, Dysmetria, Insulin resistance, Ataxia, Truncal obesity, Inguinal hernia, Gait dis... OMIM:616541
Hemochromatosis, Type 2B
Splenomegaly, Hepatomegaly, Elevated hepatic transaminase, Cirrhosis, Hepatic fibrosis OMIM:613313
Low Phospholipid-Associated Cholelithiasis
Cholelithiasis, Biliary cirrhosis, Sclerosing cholangitis, Biliary tract obstruction, Cholangitis... ORPHA:69663
Congenital Disorder Of Glycosylation, Type Ib
Failure to thrive, Hyperinsulinemic hypoglycemia OMIM:602579
Short Fifth Metacarpals-Insulin Resistance Syndrome
Hyperinsulinemia ORPHA:66518
Rabson-Mendenhall Syndrome
Diabetic ketoacidosis, Hypothyroidism, Fasting hypoglycemia, Insulin resistance, Increased pineal... ORPHA:769
Portal Hypertension, Noncirrhotic, 2
Portal hypertension, Elevated gamma-glutamyltransferase level, Splenomegaly, Hepatomegaly, Nodula... OMIM:619463
Lipodystrophy, Familial Partial, Type 7
Lipodystrophy, Dysmetria, Insulin resistance, Small for gestational age, Hypercholesterolemia, De... OMIM:606721
Alstrom Syndrome
Hypothyroidism, Diabetes insipidus, Hyperinsulinemia, Hypergonadotropic hypogonadism, Insulin-res... OMIM:203800
Mpi-Cdg
Failure to thrive, Hyperinsulinemic hypoglycemia, Hypothyroidism ORPHA:79319
Adult Acute Respiratory Distress Syndrome
Increased circulating interleukin 6 concentration, Abnormal circulating interleukin concentration... ORPHA:70578
Seckel Syndrome 10
Glycosuria, Insulin resistance, Elevated circulating luteinizing hormone level, Elevated circulat... OMIM:617253
Polyendocrine-Polyneuropathy Syndrome
Hypogonadotropic hypogonadism, Hypoglycemia, Decreased circulating follicle stimulating hormone c... ORPHA:453533
Bile Acid Synthesis Defect, Congenital, 1
Hepatic failure, Splenomegaly, Hepatomegaly, Jaundice, Intrahepatic cholestasis, Giant cell hepat... OMIM:607765
Multiple Endocrine Neoplasia Type 4
Pituitary corticotropic cell adenoma, Pulmonary carcinoid tumor, Thymoma, Neuroendocrine neoplasm... ORPHA:276152
Acute Lung Injury
Increased circulating interleukin 6 concentration, Acute pancreatitis, Abnormality of serum cytok... ORPHA:178320
Bardet-Biedl Syndrome 1
Insulin resistance, Obesity, Ataxia, Truncal obesity, Diabetes mellitus, Abdominal obesity, Nephr... OMIM:209900
Silver-Russell Syndrome
Insulin resistance, Failure to thrive in infancy, Recurrent hypoglycemia, Obesity, Precocious pub... ORPHA:813
Mandibuloacral Dysplasia With Type B Lipodystrophy
Delayed puberty, Generalized lipodystrophy, Insulin resistance, Hyperlipidemia ORPHA:90154
Mitochondrial Complex Iii Deficiency, Nuclear Type 6
Acute hepatic failure, Elevated hepatic transaminase OMIM:615453
Vulvovaginal Gingival Syndrome
Abnormality of tumor necrosis factor secretion ORPHA:83453
Lipodystrophy, Congenital Generalized, Type 1
Lipodystrophy, Hyperinsulinemia, Reduced intraabdominal adipose tissue, Insulin-resistant diabete... OMIM:608594
Congenital Bile Acid Synthesis Defect Type 2
Hepatic steatosis, Hepatic failure, Increased circulating lactate dehydrogenase concentration, Ch... ORPHA:79303
Aromatase Deficiency
Hyperlipidemia, Insulin resistance, Obesity, Eunuchoid habitus, Type II diabetes mellitus, Hyperg... ORPHA:91
Pancreatic Agenesis 1
Failure to thrive, Neonatal insulin-dependent diabetes mellitus, Diabetes mellitus OMIM:260370
Whipple Disease
Ataxia, Hypothyroidism, Insulin resistance, Cachexia ORPHA:3452
Glycogen Storage Disease Ixc
Bile duct proliferation, Increased hepatic glycogen content, Splenomegaly, Hepatomegaly, Elevated... OMIM:613027
Lipodystrophy, Congenital Generalized, Type 2
Lipodystrophy, Hyperinsulinemia, Reduced intraabdominal adipose tissue, Insulin-resistant diabete... OMIM:269700
Infantile Liver Failure Syndrome 3
Hepatic steatosis, Cholestasis, Hepatic bridging fibrosis, Splenomegaly, Hepatomegaly, Jaundice, ... OMIM:618641
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Hepatosplenomegaly, Splenomegaly, Hepatomegaly, Jaundice, Elevated hepatic iron concentration, El... OMIM:616860
Neutropenia, Severe Congenital, 8, Autosomal Dominant
Exocrine pancreatic insufficiency, Elevated hepatic transaminase OMIM:618752
Budd-Chiari Syndrome
Portal hypertension, Peritonitis, Cholecystitis, Splenomegaly, Hepatomegaly, Jaundice, Acute hepa... ORPHA:131
Leprechaunism
Decreased body weight, Fasting hypoglycemia, Insulin resistance, Hyperinsulinemia, Central hypoth... ORPHA:508
Monosomy 13Q34
Obesity, Insulin resistance ORPHA:96168
Dopamine Beta-Hydroxylase Deficiency
Hypoglycemia, Insulin resistance, Hyperinsulinemia ORPHA:230
Werner Syndrome
Lipodystrophy, Insulin resistance, Slender build, Lipoatrophy, Chondrocalcinosis, Type II diabete... ORPHA:902
Marbach-Rustad Progeroid Syndrome
Insulin resistance, Reduced subcutaneous adipose tissue OMIM:619322
Prader-Willi Syndrome
Adrenal insufficiency, Hypogonadotropic hypogonadism, Hyperinsulinemia, Failure to thrive in infa... OMIM:176270
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Interlobular bile duct destruction, Sclerosing cholangitis, Increased circulating IgG level, Chol... ORPHA:562639
Mandibuloacral Dysplasia With Type A Lipodystrophy
Flexion contracture, Insulin resistance, Hyperlipidemia ORPHA:90153
Isolated Biliary Atresia
Periportal fibrosis, Cholestasis, Bile duct proliferation, Elevated gamma-glutamyltransferase lev... ORPHA:30391
Woodhouse-Sakati Syndrome
Hypothyroidism, Hyperlipidemia, Hyperinsulinemia, Delayed puberty, Decreased serum testosterone c... ORPHA:3464
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7
Fasting hypoglycemia, Insulin resistance, Small for gestational age, Failure to thrive, Precociou... ORPHA:96182
Gitelman Syndrome
Diabetic ketoacidosis, Primary hyperaldosteronism, Insulin resistance, Hashimoto thyroiditis, Gra... ORPHA:358
Atypical Werner Syndrome
Glycosuria, Decreased body weight, Hyperinsulinemia, Delayed puberty, Generalized lipodystrophy, ... ORPHA:79474
Infantile Liver Failure Syndrome 2
Acute hepatic failure, Elevated hepatic transaminase, Jaundice OMIM:616483
Thalidomide Embryopathy
Insulin resistance ORPHA:3312
Bloom Syndrome
Insulin resistance, Small for gestational age, Adipose tissue loss, Diabetes mellitus, Abdominal ... ORPHA:125
Immunodeficiency 47
Exocrine pancreatic insufficiency, Decreased circulating total IgM, Hepatic steatosis, Elevated c... OMIM:300972
Caroli Syndrome
Hepatic failure, Portal hypertension, Cholangitis, Cholangiocarcinoma, Pancreatitis, Hepatomegaly... ORPHA:480520
Steinert Myotonic Dystrophy
Insulin resistance, Hyperinsulinemia, Hypercholesterolemia, Abnormality of thyroid physiology, In... ORPHA:273
Solitary Fibrous Tumor/Hemangiopericytoma
Recurrent hypoglycemia, Hypoglycemia, Weight loss, Hypoinsulinemia ORPHA:2126
Mirizzi Syndrome
Cholelithiasis, Cholesterol gallstones, Gallbladder perforation, Jaundice, Abnormality of the duc... ORPHA:521219
Hutchinson-Gilford Progeria Syndrome
Cyanosis, Female hypogonadism, Insulin resistance, Shuffling gait, Severe failure to thrive, Abse... ORPHA:740
Turner Syndrome Due To Structural X Chromosome Anomalies
Hyperlipidemia, Atypical scarring of skin, Hyperinsulinemia, Failure to thrive in infancy, Hashim... ORPHA:99413
Turner Syndrome
Hyperlipidemia, Atypical scarring of skin, Hyperinsulinemia, Failure to thrive in infancy, Hashim... ORPHA:881
Mosaic Monosomy X
Hyperlipidemia, Atypical scarring of skin, Hyperinsulinemia, Failure to thrive in infancy, Hashim... ORPHA:99228
Monosomy X
Hyperlipidemia, Atypical scarring of skin, Hyperinsulinemia, Failure to thrive in infancy, Hashim... ORPHA:99226
Tenorio Syndrome
Hypoglycemia, Hypoinsulinemia, Gait disturbance OMIM:616260
Sweet Syndrome
Increased circulating interleukin 6 concentration, Abnormal circulating interleukin concentration... ORPHA:3243
Reynolds Syndrome
Biliary cirrhosis, Splenomegaly, Hepatomegaly, Jaundice, Elevated hepatic transaminase, Elevated ... OMIM:613471
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Achilles tendon contracture, Corneal scarring, Small for gestational age, Inability to walk, Athe... ORPHA:404454
Pmm2-Cdg
Lipodystrophy, Hypogonadotropic hypogonadism, Multiple joint contractures, Hyperinsulinemia, Insu... ORPHA:79318
Alström Syndrome
Primary hypothyroidism, Hyperlipidemia, Insulin resistance, Hyperinsulinemia, Precocious puberty ... ORPHA:64
Psoriasis-Related Juvenile Idiopathic Arthritis
Abnormality of tumor necrosis factor secretion ORPHA:85436
Leukocyte Adhesion Deficiency
Hyperinsulinemic hypoglycemia ORPHA:2968

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 Ccar2

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 Ccar2.

No publications found that use IMPC mice or data for Ccar2.

Order Mouse and ES Cells

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MGI Allele Allele Type Produced
Ccar2tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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