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Gene: Ccar2 MGI:2444228

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

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 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
Increased waist to hip ratio, Insulin resistance, Type II diabetes mellitus OMIM:125853
Glycine N-Methyltransferase Deficiency
Elevated hepatic transaminase, Hepatomegaly OMIM:606664
Multiple Symmetric Lipomatosis
Abnormal adipose tissue morphology, Multiple lipomas, Insulin resistance, Gait disturbance ORPHA:2398
Short Stature Due To Primary Acid-Labile Subunit Deficiency
Insulin resistance, Truncal obesity, Decreased serum insulin-like growth factor 1, Delayed puberty ORPHA:140941
Hyperinsulinemic Hypoglycemia, Familial, 5
Elevated circulating insulin:C-peptide ratio, Fasting hyperinsulinemia, Hypoglycemic seizures, Hy... OMIM:609968
Hyperinsulinemic Hypoglycemia, Familial, 3
Diabetes mellitus, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:602485
Hyperinsulinism Due To Insr Deficiency
Hypoglycemia, Insulin resistance, Fasting hyperinsulinemia, Recurrent hypoglycemia, Hyperinsuline... ORPHA:263458
Insulin Autoimmune Syndrome
Nonketotic hypoglycemia, Reactive hypoglycemia, Insulin-resistant diabetes mellitus, Insulin resi... ORPHA:411593
Obesity Due To Melanocortin 4 Receptor Deficiency
Hypertriglyceridemia, Increased adipose tissue, Hyperinsulinemia, Obesity, Type II diabetes melli... ORPHA:71529
Hyperinsulinemic Hypoglycemia, Familial, 1
Large for gestational age, Pancreatic islet-cell hyperplasia, Hypoglycemic seizures, Hyperinsulin... OMIM:256450
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemia, Hyperinsulinemia, Hypoglycemic seizures, Pancreatic islet-cell hyperplasia, Hyperin... OMIM:610021
Hyperinsulinemic Hypoglycemia, Familial, 2
Large for gestational age, Hypoglycemia, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypo... OMIM:601820
Cholestasis, Progressive Familial Intrahepatic, 11
Hepatomegaly, Elevated circulating alanine aminotransferase concentration, Elevated circulating a... OMIM:619874
Cortisone Reductase Deficiency 2
Insulin resistance, Obesity, Premature pubarche OMIM:614662
Congenital Glucokinase-Related Hyperinsulinism
Fasting hyperinsulinemia, Recurrent hypoglycemia, Type II diabetes mellitus, Hyperinsulinemic hyp... ORPHA:79299
Plin1-Related Familial Partial Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Hypertriglycer... ORPHA:280356
Diabetes Mellitus, Ketosis-Prone
Beta-cell dysfunction, Insulin resistance, Diabetes mellitus OMIM:612227
Hyperinsulinemic Hypoglycemia, Familial, 4
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:609975
Acanthosis Nigricans With Muscle Cramps And Acral Enlargement
Insulin resistance OMIM:200170
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency
Increased circulating lactate dehydrogenase concentration, Hepatomegaly, Elevated circulating ala... OMIM:605911
Hyperinsulinism Due To Hnf1A Deficiency
Small for gestational age, Ketotic hypoglycemia, Maternal diabetes, Reactive hypoglycemia, Maturi... ORPHA:324575
Morbid Obesity And Spermatogenic Failure
Hypertriglyceridemia, Insulin resistance, Obesity, Type II diabetes mellitus, Hypercholesterolemia OMIM:615703
Hypoglycemia, Leucine-Induced
Hypoglycemia, Ataxia, Hyperinsulinemic hypoglycemia OMIM:240800
Insulinomatosis And Diabetes Mellitus
Impaired glucose tolerance, Insulinoma, Multiple pancreatic beta-cell adenomas, Type II diabetes ... OMIM:147630
Body Mass Index Quantitative Trait Locus 19
Hypertriglyceridemia, Insulin resistance, Hyperlipidemia, Hyperinsulinemia, Obesity, Increased se... OMIM:617885
Combined Oxidative Phosphorylation Deficiency 16
Microvesicular hepatic steatosis, Elevated circulating alanine aminotransferase concentration, El... OMIM:615395
Obesity Due To Prohormone Convertase I Deficiency
Decreased response to growth hormone stimulation test, Increased adipose tissue, Gonadotropin def... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Decreased response to growth hormone stimulation test, Increased adipose tissue, Gonadotropin def... ORPHA:71526
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Hyperglycemia, Hyperinsulinemia, Obesity, Hyperlipidemia ORPHA:329249
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Maternal diabetes, Large for gestational age, Hyperinsulinemia, Hypoglycemic seizures, Type I dia... ORPHA:276580
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Reactive hypoglycemia, Hyperinsulinemia, Increased body weight, Pancreatic islet-cell hyperplasia... ORPHA:276608
Hyperinsulinemic Hypoglycemia, Familial, 6
Abnormality of the pancreatic islet cells, Failure to thrive, Hypoglycemic seizures, Hyperinsulin... OMIM:606762
Obesity
Increased waist to hip ratio, Obesity, Decreased resting energy expenditure OMIM:601665
Familial Partial Lipodystrophy, Köbberling Type
Lipoatrophy, Insulin resistance, Diabetes mellitus, Hyperinsulinemia ORPHA:79084
Lipodystrophy, Familial Partial, Type 3
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Hypertriglycer... OMIM:604367
Obesity Due To Sim1 Deficiency
Glucose intolerance, Hyperinsulinemia, Obesity, Increased resting energy expenditure ORPHA:369873
Lipodystrophy, Familial Partial, Type 4
Hypertriglyceridemia, Lipodystrophy, Lipoatrophy, Insulin-resistant diabetes mellitus, Insulin re... OMIM:613877
Nephropathy, Progressive Tubulointerstitial, With Cholestatic Liver Disease
Elevated hepatic transaminase, Cholestatic liver disease OMIM:602114
Homozygous 11P15-P14 Deletion Syndrome
Failure to thrive, Hyperinsulinemia, Hypoglycemia OMIM:606528
Lipodystrophy, Congenital Generalized, Type 3
Reduced subcutaneous adipose tissue, Diabetes mellitus, Hypertriglyceridemia, Lipodystrophy, Insu... OMIM:612526
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Large for gestational age, Hyperinsulinemia, Hypoglycemic seizures, Type I diabetes mellitus, Fas... ORPHA:276575
Hyperproinsulinemia
Hyperglycemia, Hyperinsulinemia OMIM:616214
Gilbert Syndrome
Elevated hepatic transaminase, Jaundice, Hepatic failure OMIM:143500
Akt2-Related Familial Partial Lipodystrophy
Hypertriglyceridemia, Lipodystrophy, Decreased adiponectin level, Decreased serum leptin, Insulin... ORPHA:79085
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Elevated circulating thyroid-stimulating hormone concentration, Abnormal circulating insulin conc... ORPHA:171706
Lipodystrophy, Familial Partial, Type 6
Diabetes mellitus, Lipodystrophy, Insulin resistance, Hyperlipidemia, Abdominal obesity OMIM:615980
Lipe-Related Familial Partial Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Hypertriglyceridemia, Lipodystrophy, Decreased adip... ORPHA:435660
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Hypoglycemia, Large for gestational age, Obesity, Truncal obesity, Fasting hypoglycemia, Hypoinsu... OMIM:240900
Hyperinsulinemic Hypoglycemia, Familial, 8
Hypoglycemia, Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemia, H... OMIM:620211
Mandibuloacral Dysplasia
Loss of subcutaneous adipose tissue in limbs, Hypertriglyceridemia, Lipoatrophy, Increased subcut... ORPHA:2457
Body Mass Index Quantitative Trait Locus 20
Hyperinsulinemia, Obesity OMIM:618406
Severe Neurodegenerative Syndrome With Lipodystrophy
Reduced subcutaneous adipose tissue, Hypertriglyceridemia, Ataxia, Reduced intraabdominal adipose... ORPHA:363400
Transient Neonatal Diabetes Mellitus
Small for gestational age, Maternal diabetes, Maturity-onset diabetes of the young, Transient neo... ORPHA:99886
Obesity And Hypopigmentation
Hyperinsulinemia, Obesity OMIM:620195
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1
Diabetes mellitus, Dorsocervical fat pad, Delayed thelarche, Hyperinsulinemic hypoglycemia, Delay... OMIM:616033
Hypertriglyceridemia, Transient Infantile
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Hepatic fibrosis, Elevated gamma-gluta... OMIM:614480
Obesity Due To Congenital Leptin Deficiency
Hypertriglyceridemia, Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant d... ORPHA:66628
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Hypoglycemia, Small for gestational age, Precocious puberty, Insulin-resistant diabetes mellitus,... OMIM:262190
Insulinoma
Nonketotic hypoglycemia, Reactive hypoglycemia, Abnormality of the pancreatic islet cells, Fastin... ORPHA:97279
Acquired Partial Lipodystrophy
Insulin resistance, Lipoatrophy ORPHA:79087
Obesity Due To Leptin Receptor Gene Deficiency
Hypertriglyceridemia, Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant d... ORPHA:179494
Hyperinsulinism-Hyperammonemia Syndrome
Hyperinsulinemic hypoglycemia, Fasting hyperinsulinemia, Reactive hypoglycemia ORPHA:35878
Hyperinsulinism Due To Ucp2 Deficiency
Reactive hypoglycemia, Large for gestational age, Hypoglycemic seizures, Recurrent hypoglycemia, ... ORPHA:276556
Bdv Syndrome
Decreased thyroid-stimulating hormone level, Hypogonadotropic hypogonadism, Hyperinsulinemia, Obe... OMIM:619326
Portal Hypertension, Noncirrhotic, 1
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly OMIM:617068
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Jaundice, Elevated c... OMIM:619658
Retinitis Pigmentosa
Hyperinsulinemia, Obesity, Atypical scarring of skin, Hypogonadism, Type II diabetes mellitus ORPHA:791
Mody
Large for gestational age, Overweight, Transient neonatal diabetes mellitus, Insulin-resistant di... ORPHA:552
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Nonketotic hypoglycemia, Increased circulating free fatty acid level, Large for gestational age, ... ORPHA:293964
Lipodystrophy, Familial Partial, Type 1
Loss of subcutaneous adipose tissue in limbs, Hypertriglyceridemia, Lipodystrophy, Increased subc... OMIM:608600
Bile Acid Conjugation Defect 1
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Jaundice, Elevated c... OMIM:619232
Gallbladder Disease 1
Elevated hepatic transaminase, Cholangitis, Portal inflammation, Jaundice, Cholestasis, Elevated ... OMIM:600803
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Hypergonadotropic hypogonadism, Hyperinsulinemia, Obesity, Type II diabetes mellitus, Keloids ORPHA:3085
Placental Insufficiency
Hypoxemia, Insulin resistance, Small for gestational age ORPHA:439167
Lipodystrophy, Familial Partial, Type 2
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Hypertriglycer... OMIM:151660
Congenital Generalized Lipodystrophy
Diabetes mellitus, Precocious puberty in females, Hypertriglyceridemia, Lipodystrophy, Adipose ti... ORPHA:528
Cholestasis, Intrahepatic, Of Pregnancy, 1
Elevated hepatic transaminase, Intrahepatic cholestasis, Jaundice, Abnormal liver function tests ... OMIM:147480
Macrophage Activation Syndrome
Hepatomegaly, Increased circulating interleukin 6 concentration, Elevated circulating aspartate a... ORPHA:158061
Congenital Disorder Of Glycosylation, Type Iip
Elevated hepatic transaminase, Elevated circulating alkaline phosphatase concentration, Hepatic s... OMIM:616829
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Loss of subcutaneous adipose tissue in limbs, Diabetes mellitus, Hypertriglyceridemia, Lipodystro... OMIM:615381
Bangstad Syndrome
Ataxia, Abnormality of the parathyroid gland, Hyperinsulinemia, Increased circulating cortisol le... ORPHA:1227
Congenital Disorder Of Glycosylation, Type Iir
Elevated hepatic transaminase, Hepatomegaly, Jaundice, Micronodular cirrhosis, Decreased circulat... OMIM:301045
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Elevated circulating growth hormone concentration, Neonatal hypoglycemia, Large for gestational a... ORPHA:79644
Sea-Blue Histiocyte Disease
Splenomegaly, Elevated circulating alanine aminotransferase concentration, Elevated circulating a... OMIM:269600
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Large for gestational age, Hyperinsulinemia, Increased body weight, Pancreatic islet-cell hyperpl... ORPHA:263455
Coronary Artery Disease, Autosomal Dominant 2
Glucose intolerance, Hypertriglyceridemia, Impaired glucose tolerance, Type II diabetes mellitus OMIM:610947
Cholestasis-Lymphedema Syndrome
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Elevated circulating alkalin... OMIM:214900
Mandibuloacral Dysplasia With Type B Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Decreased adipose tissue around neck, Insulin-resis... OMIM:608612
Bile Acid Synthesis Defect, Congenital, 5
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Portal ... OMIM:616278
Glycogen Storage Disease Vi
Elevated hepatic transaminase, Hepatomegaly, Increased hepatic glycogen content OMIM:232700
Insulin-Resistance Syndrome Type B
Abnormality of body weight, Abnormal circulating leptin concentration, Insulin resistance, Fastin... ORPHA:2298
Biliary Atresia, Extrahepatic
Elevated hepatic transaminase, Hepatomegaly, Atretic gallbladder, Extrahepatic biliary duct atres... OMIM:210500
Galactokinase Deficiency
Hypergonadotropic hypogonadism, Hypoglycemia, Small for gestational age, Hyperinsulinemia, Hyperc... ORPHA:79237
Estrogen Resistance
Increased circulating osteocalcin level, Impaired glucose tolerance, Hyperinsulinemia, Increased ... OMIM:615363
Familial Renal Glucosuria
Insulin resistance, Abnormal circulating insulin concentration, Glycosuria, Hyperglycemia, Abnorm... ORPHA:69076
Congenital Bile Acid Synthesis Defect Type 1
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Biliary tract abnormality, C... ORPHA:79301
Familial Partial Lipodystrophy, Dunnigan Type
Loss of subcutaneous adipose tissue in limbs, Diabetes mellitus, Lipodystrophy, Hypertriglyceride... ORPHA:2348
Cholestasis, Progressive Familial Intrahepatic, 3
Elevated hepatic transaminase, Hepatomegaly, Intrahepatic cholestasis, Jaundice, Splenomegaly, Po... OMIM:602347
Pparg-Related Familial Partial Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Diabetes mellitus, Hypertriglyceridemia, Lipoatroph... ORPHA:79083
Congenital Bile Acid Synthesis Defect Type 3
Elevated circulating aspartate aminotransferase concentration, Jaundice, Elevated circulating ala... ORPHA:79302
Protoporphyria, Erythropoietic, X-Linked
Elevated hepatic transaminase, Cholelithiasis OMIM:300752
Cerebrooculofacioskeletal Syndrome 1
Small for gestational age, Insulin resistance, Flexion contracture, Elbow flexion contracture, Kn... OMIM:214150
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Insulin-resistant diabetes mellitus, Insulin resistance, Elevated circulating growth hormone conc... ORPHA:90301
Congenital Disorder Of Glycosylation, Type Iio
Elevated hepatic transaminase, Hepatomegaly, Elevated alkaline phosphatase of bone origin, Spleno... OMIM:616828
Perlman Syndrome
Femoral hernia, Hyperinsulinemia, Inguinal hernia ORPHA:2849
Hepatitis, Fulminant Viral, Susceptibility To
Elevated hepatic transaminase, Hepatomegaly, Jaundice, Fulminant hepatitis, Hepatic failure OMIM:618549
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Glucose intolerance, Male hypogonadism, Hypergonadotropic hypogonadism, Hyperglycemia OMIM:307500
Short Syndrome
Inguinal hernia, Small for gestational age, Lipodystrophy, Lipoatrophy, Insulin resistance, Insul... OMIM:269880
Cholestasis, Progressive Familial Intrahepatic, 6
Elevated hepatic transaminase, Intrahepatic cholestasis, Periportal fibrosis, Elevated circulatin... OMIM:619484
X-Linked Acrogigantism
Decreased thyroid-stimulating hormone level, Enlarged pituitary gland, Increased body mass index,... ORPHA:300373
Donohue Syndrome
Precocious puberty, Adipose tissue loss, Hyperinsulinemia, Severe failure to thrive, Pancreatic i... OMIM:246200
Bile Acid Malabsorption, Primary, 2
Elevated circulating aspartate aminotransferase concentration, Elevated circulating alanine amino... OMIM:619481
Telangiectasia, Hereditary Hemorrhagic, Type 5
Elevated hepatic transaminase, Portal hypertension OMIM:615506
Cholestasis, Progressive Familial Intrahepatic, 4
Portal hypertension, Intrahepatic cholestasis, Cirrhosis, Hepatocellular carcinoma, Hepatic failure OMIM:615878
Mandibuloacral Dysplasia With Type A Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Impaired gluco... OMIM:248370
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Diabetes melli... ORPHA:280365
Familial Multiple Lipomatosis
Insulin resistance, Lipodystrophy, Hyperlipidemia, Increased adipose tissue ORPHA:199276
Bile Acid Synthesis Defect, Congenital, 2
Elevated hepatic transaminase, Hepatomegaly, Intrahepatic cholestasis, Jaundice, Splenomegaly, El... OMIM:235555
Hypertriglyceridemia 1
Glucose intolerance, Hypopituitarism, Hypertriglyceridemia OMIM:145750
Short Stature, Dauber-Argente Type
Fasting hyperinsulinemia OMIM:619489
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Hypoglycemia, Small for gestational age, Insulin resistance, Truncal obesity, Hypogonadism, Failu... ORPHA:73272
Familial Hemophagocytic Lymphohistiocytosis
Elevated hepatic transaminase, Hepatomegaly, Increased circulating interleukin 6 concentration, S... ORPHA:540
Parenteral Nutrition-Associated Cholestasis
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Biliary hyperplasia, Splenomega... ORPHA:567983
Cholestasis, Progressive Familial Intrahepatic, 8
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Portal hypertension,... OMIM:619662
Acquired Generalized Lipodystrophy
Hypertriglyceridemia, Insulin-resistant diabetes mellitus, Insulin resistance, Hyperinsulinemia, ... ORPHA:79086
Diarrhea 13
Elevated hepatic transaminase, Hepatic steatosis OMIM:620357
Bile Acid Synthesis Defect, Congenital, 3
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Hepatic bridging fib... OMIM:613812
Benign Recurrent Intrahepatic Cholestasis
Elevated hepatic transaminase, Jaundice, Acholic stools, Cholestatic liver disease, Cirrhosis, He... ORPHA:65682
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome
Insulin-resistant diabetes mellitus, Primary gonadal insufficiency, Hypertriglyceridemia ORPHA:436182
Short Syndrome
Inguinal hernia, Diabetes mellitus, Lipodystrophy, Abnormal dental enamel morphology, Insulin res... ORPHA:3163
Estrogen Resistance Syndrome
Increased circulating gonadotropin level, Absence of secondary sex characteristics, Hyperinsuline... ORPHA:785
Bangstad Syndrome
Small for gestational age, Insulin-resistant diabetes mellitus, Progressive cerebellar ataxia, Pr... OMIM:210740
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Increased circulating free fatty acid level, Fasting hyperinsulinemia, Hypoglycemic seizures, Hyp... ORPHA:71212
Cidec-Related Familial Partial Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Hypertriglyceridemia, Lipodystrophy, Decreased adip... ORPHA:435651
Hepatorenocardiac Degenerative Fibrosis
Elevated hepatic transaminase, Portal hypertension, Hypersplenism, Jaundice, Hepatosplenomegaly, ... OMIM:619902
Proprotein Convertase 1/3 Deficiency
Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Reactive hypoglycemia, Obesi... OMIM:600955
Short Stature, Microcephaly, And Endocrine Dysfunction
Broad-based gait, Diabetes mellitus, Ataxia, Inguinal hernia, Insulin resistance, Dysmetria, Trun... OMIM:616541
Seckel Syndrome 10
Diabetes mellitus, Impaired glucose tolerance, Hypertriglyceridemia, Elevated circulating luteini... OMIM:617253
Hemochromatosis, Type 2B
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Hepatic fibrosis, Cirrhosis OMIM:613313
Low Phospholipid-Associated Cholelithiasis
Elevated hepatic transaminase, Liver abscess, Cholangitis, Intrahepatic cholestasis, Biliary cirr... ORPHA:69663
Lipodystrophy, Congenital Generalized, Type 4
Hypertriglyceridemia, Lipodystrophy, Insulin resistance, Flexion contracture, Hyperinsulinemia, F... OMIM:613327
Polyendocrine-Polyneuropathy Syndrome
Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Hypoglycemia, Ataxia, Decreased cir... ORPHA:453533
Portal Hypertension, Noncirrhotic, 2
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Nodular regenerative hyperplasi... OMIM:619463
Bile Acid Synthesis Defect, Congenital, 1
Elevated hepatic transaminase, Hepatomegaly, Giant cell hepatitis, Intrahepatic cholestasis, Jaun... OMIM:607765
Adult Acute Respiratory Distress Syndrome
Abnormal circulating interleukin concentration, Increased circulating interleukin 6 concentration... ORPHA:70578
Short Fifth Metacarpals-Insulin Resistance Syndrome
Hyperinsulinemia ORPHA:66518
Rabson-Mendenhall Syndrome
Increased pineal volume, Reduced subcutaneous adipose tissue, Impaired glucose tolerance, Precoci... ORPHA:769
Mpi-Cdg
Failure to thrive, Hypothyroidism, Hyperinsulinemic hypoglycemia ORPHA:79319
Lipodystrophy, Familial Partial, Type 7
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Hypertriglycer... OMIM:606721
Alstrom Syndrome
Hypertriglyceridemia, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimul... OMIM:203800
Werner Syndrome
Lipodystrophy, Lipoatrophy, Insulin resistance, Hypogonadism, Thyroid carcinoma, Type II diabetes... ORPHA:902
Acute Lung Injury
Acute pancreatitis, Abnormality of serum cytokine level, Abnormality of tumor necrosis factor sec... ORPHA:178320
Lipodystrophy, Congenital Generalized, Type 1
Reduced subcutaneous adipose tissue, Diabetes mellitus, Hypertriglyceridemia, Lipodystrophy, Decr... OMIM:608594
Silver-Russell Syndrome
Failure to thrive in infancy, Cachexia, Precocious puberty, Insulin resistance, Obesity, Recurren... ORPHA:813
Congenital Disorder Of Glycosylation, Type Ib
Failure to thrive, Steatorrhea, Hyperinsulinemic hypoglycemia OMIM:602579
Multiple Endocrine Neoplasia Type 4
Hyperparathyroidism, Pituitary corticotropic cell adenoma, Fasting hyperinsulinemia, Elevated cir... ORPHA:276152
Bile Acid Synthesis Defect, Congenital, 4
Elevated hepatic transaminase, Hepatomegaly, Giant cell hepatitis, Elevated circulating aspartate... OMIM:214950
Vulvovaginal Gingival Syndrome
Abnormality of tumor necrosis factor secretion ORPHA:83453
Mandibuloacral Dysplasia With Type B Lipodystrophy
Generalized lipodystrophy, Insulin resistance, Hyperlipidemia, Delayed puberty ORPHA:90154
Congenital Bile Acid Synthesis Defect Type 2
Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Abnormal circulating enzyme co... ORPHA:79303
Aromatase Deficiency
Eunuchoid habitus, Hypergonadotropic hypogonadism, Insulin resistance, Hyperlipidemia, Obesity, T... ORPHA:91
Lipodystrophy, Congenital Generalized, Type 2
Reduced subcutaneous adipose tissue, Hypertriglyceridemia, Lipodystrophy, Reduced intraabdominal ... OMIM:269700
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Hepatosplenomegaly, Cirrhosi... OMIM:616860
Whipple Disease
Cachexia, Insulin resistance, Hypothyroidism, Ataxia ORPHA:3452
Neutropenia, Severe Congenital, 8, Autosomal Dominant
Elevated hepatic transaminase, Exocrine pancreatic insufficiency OMIM:618752
Glycogen Storage Disease Ixc
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Bile duct proliferation, Cirrhosis, In... OMIM:613027
Bardet-Biedl Syndrome 1
Diabetes mellitus, Ataxia, Nephrogenic diabetes insipidus, Insulin resistance, Obesity, Truncal o... OMIM:209900
Budd-Chiari Syndrome
Elevated hepatic transaminase, Hepatomegaly, Acute hepatic failure, Portal hypertension, Splenome... ORPHA:131
Infantile Liver Failure Syndrome 3
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Jaundice, Chole... OMIM:618641
Dopamine Beta-Hydroxylase Deficiency
Insulin resistance, Hyperinsulinemia, Hypoglycemia ORPHA:230
Marbach-Rustad Progeroid Syndrome
Reduced subcutaneous adipose tissue, Insulin resistance OMIM:619322
Leprechaunism
Reduced subcutaneous adipose tissue, Insulin resistance, Hyperinsulinemia, Central hypothyroidism... ORPHA:508
Woodhouse-Sakati Syndrome
Streak ovary, Decreased response to growth hormone stimulation test, Insulin-resistant diabetes m... ORPHA:3464
Monosomy 13Q34
Insulin resistance, Obesity ORPHA:96168
Isolated Biliary Atresia
Elevated hepatic transaminase, Hepatomegaly, Atretic gallbladder, Splenomegaly, Jaundice, Cholest... ORPHA:30391
Mandibuloacral Dysplasia With Type A Lipodystrophy
Insulin resistance, Flexion contracture, Hyperlipidemia ORPHA:90153
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Elevated hepatic transaminase, Granulomatous cholangitis, Cholestasis, Abnormal intrahepatic bile... ORPHA:562639
Prader-Willi Syndrome
Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Failure to ... OMIM:176270
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7
Small for gestational age, Decreased response to growth hormone stimulation test, Precocious pube... ORPHA:96182
Thalidomide Embryopathy
Insulin resistance ORPHA:3312
Gitelman Syndrome
Maternal diabetes, Insulin resistance, Glucose intolerance, Diabetic ketoacidosis, Type I diabete... ORPHA:358
Atypical Werner Syndrome
Failure to thrive, Diabetes mellitus, Hypertriglyceridemia, Lipoatrophy, Abnormal circulating lep... ORPHA:79474
Bloom Syndrome
Diabetes mellitus, Small for gestational age, Adipose tissue loss, Insulin resistance, Abdominal ... ORPHA:125
Immunodeficiency 47
Accessory spleen, Hepatomegaly, Elevated hepatic transaminase, Elevated circulating aspartate ami... OMIM:300972
Caroli Syndrome
Elevated hepatic transaminase, Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Port... ORPHA:480520
Atelis Syndrome 2
Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemia, Dysmetria OMIM:620185
Steinert Myotonic Dystrophy
Diabetes mellitus, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulati... ORPHA:273
Solitary Fibrous Tumor
Recurrent hypoglycemia, Hypoglycemia, Hypoinsulinemia, Weight loss ORPHA:2126
Tyrosinemia, Type Iii
Elevated hepatic transaminase OMIM:276710
Hutchinson-Gilford Progeria Syndrome
Cyanosis, Female hypogonadism, Decreased serum leptin, Insulin resistance, Absence of subcutaneou... ORPHA:740
Tenorio Syndrome
Hypoglycemia, Hypoinsulinemia, Gait disturbance OMIM:616260
Sweet Syndrome
Abnormal circulating interleukin concentration, Increased circulating interleukin 6 concentration... ORPHA:3243
Turner Syndrome Due To Structural X Chromosome Anomalies
Failure to thrive in infancy, High urinary gonadotropin level, Increased circulating gonadotropin... ORPHA:99413
Turner Syndrome
Failure to thrive in infancy, High urinary gonadotropin level, Increased circulating gonadotropin... ORPHA:881
Mosaic Monosomy X
Failure to thrive in infancy, High urinary gonadotropin level, Increased circulating gonadotropin... ORPHA:99228
Monosomy X
Failure to thrive in infancy, High urinary gonadotropin level, Increased circulating gonadotropin... ORPHA:99226
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Small for gestational age, Limb joint contracture, Decreased resting energy expenditure, Inabilit... ORPHA:404454
Pmm2-Cdg
Multiple joint contractures, Hypogonadotropic hypogonadism, Ataxia, Elevated circulating growth h... ORPHA:79318
Alström Syndrome
Hypertriglyceridemia, Precocious puberty in females, Decreased response to growth hormone stimula... ORPHA:64
Liver Disease, Severe Congenital
Inguinal hernia, Abnormal circulating thyroid hormone concentration, Hyperinsulinemic hypoglycemi... OMIM:619991
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

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

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