Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
CREB regulated transcription coactivator 2
Synonyms:
4632407F12Rik

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.

Legacy Phenotype Associated Images

View all 35 images

Human diseases caused by Crtc2 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 Crtc2 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Acid-Labile Subunit Deficiency
Delayed puberty, Decreased serum insulin-like growth factor 1, Insulin insensitivity OMIM:615961
Hyperinsulinemic Hypoglycemia, Familial, 3
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia, Diabetes mellitus OMIM:602485
Hyperinsulinemic Hypoglycemia, Familial, 5
Fasting hyperinsulinemia, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:609968
Hyperinsulinemic Hypoglycemia, Familial, 4
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:609975
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemic seizures, Hypoglycemia, Hyperinsulinemia, Pancreatic islet-cell hyperplasia, Hyperin... OMIM:610021
Maturity-Onset Diabetes Of The Young, Type 14
Maturity-onset diabetes of the young, Diabetes mellitus OMIM:616511
Type 1 Diabetes Mellitus 2
Type I diabetes mellitus, Diabetes mellitus OMIM:125852
Type 1 Diabetes Mellitus 15
Type I diabetes mellitus, Diabetes mellitus OMIM:601666
Type 1 Diabetes Mellitus 6
Diabetes mellitus OMIM:601941
Type 1 Diabetes Mellitus 10
Diabetes mellitus OMIM:601942
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Hypoglycemic seizures, Neonatal hypoglycemia, Nonketotic hypoglycemia, Hypoketotic hypoglycemia, ... ORPHA:293964
Hyperinsulinemic Hypoglycemia, Familial, 2
Pancreatic islet-cell hyperplasia, Hypoglycemia, Hyperinsulinemic hypoglycemia OMIM:601820
Hyperproinsulinemia
Hyperglycemia, Hyperinsulinemia OMIM:616214
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency
Hypoglycemia ORPHA:35701
Hyperinsulinism Due To Insr Deficiency
Hypoglycemia, Insulin resistance, Recurrent hypoglycemia, Fasting hyperinsulinemia, Hyperinsuline... ORPHA:263458
Glycogen Storage Disease Ixa1
Hypoglycemia, Hypercholesterolemia, Hepatomegaly, Elevated hepatic transaminase, Hypertriglycerid... OMIM:306000
Hyperinsulinemic Hypoglycemia, Familial, 1
Hypoglycemic seizures, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia OMIM:256450
Insulinomatosis And Diabetes Mellitus
Multiple pancreatic beta-cell adenomas, Hyperinsulinemic hypoglycemia, Diabetes mellitus, Glucose... OMIM:147630
Glucocorticoid Deficiency 3
Recurrent hypoglycemia OMIM:609197
Isolated Growth Hormone Deficiency, Type Ia
Decreased response to growth hormone stimulation test, Hypoglycemia, Impaired growth-hormone resp... OMIM:262400
Type 2 Diabetes Mellitus
Insulin resistance, Type II diabetes mellitus OMIM:125853
Glycogen Storage Disease Vi
Hypoglycemia, Hyperlipidemia, Hypercholesterolemia, Increased hepatic glycogen content, Hepatomeg... OMIM:232700
Short Stature Due To Partial Ghr Deficiency
Hypoglycemia, Decreased serum insulin-like growth factor 1, Delayed puberty ORPHA:314802
Hyperinsulinism Due To Glucokinase Deficiency
Recurrent hypoglycemia, Fasting hyperinsulinemia, Hypoketotic hypoglycemia, Type II diabetes mell... ORPHA:79299
Hyperinsulinemic Hypoglycemia, Familial, 6
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:606762
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Fasting hypoglycemia, Increased circulating T4 level, Decreased circulating free T3, Abnormal cir... ORPHA:171706
Transient Neonatal Diabetes Mellitus
Diabetic ketoacidosis, Hypothyroidism, Transient neonatal diabetes mellitus, Maternal diabetes, M... ORPHA:99886
Maturity-Onset Diabetes Of The Young, Type 3
Maturity-onset diabetes of the young, Hyperglycemia, Type II diabetes mellitus OMIM:600496
Dwarfism, Low-Birth-Weight Type, With Unresponsiveness To Growth Hormone
Hypoglycemia OMIM:223500
Insulin Autoimmune Syndrome
Fasting hypoglycemia, Nonketotic hypoglycemia, Insulin resistance, Reactive hypoglycemia, Insulin... ORPHA:411593
Glycine N-Methyltransferase Deficiency
Hepatomegaly, Elevated hepatic transaminase OMIM:606664
Hypoglycemia, Leucine-Induced
Hypoglycemia, Hyperinsulinemic hypoglycemia OMIM:240800
Glycogen Storage Disease 0, Liver
Fasting hypoglycemia, Neonatal hypoglycemia, Postprandial hyperglycemia OMIM:240600
Fructose And Galactose Intolerance
Hypoglycemia OMIM:229500
Acanthosis Nigricans With Muscle Cramps And Acral Enlargement
Insulin resistance OMIM:200170
Maturity-Onset Diabetes Of The Young, Type 10
Diabetic ketoacidosis, Maturity-onset diabetes of the young, Hyperglycemia, Diabetes mellitus OMIM:613370
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial
Hypoglycemia, Impaired gluconeogenesis OMIM:261650
Mitochondrial Complex Iii Deficiency, Nuclear Type 3
Hypoglycemia OMIM:615158
Combined Oxidative Phosphorylation Deficiency 36
Hypoglycemia OMIM:617950
Homozygous 11P15-P14 Deletion Syndrome
Hypoglycemia, Hyperinsulinemia OMIM:606528
Hyperinsulinism-Hyperammonemia Syndrome
Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia, Reactive hypoglycemia ORPHA:35878
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Hypoglycemia ORPHA:366
Polyendocrine-Polyneuropathy Syndrome
Hypogonadotropic hypogonadism, Hypoglycemia, Decreased circulating follicle stimulating hormone c... ORPHA:453533
Estrogen Resistance
Glucose intolerance, Impaired glucose tolerance, Hyperinsulinemia OMIM:615363
Hyperinsulinism Due To Hnf1A Deficiency
Ketotic hypoglycemia, Hypoglycemic seizures, Fasting hypoglycemia, Neonatal hypoglycemia, Excessi... ORPHA:324575
Glucocorticoid Deficiency 2
Recurrent hypoglycemia, Decreased circulating cortisol level, Increased circulating ACTH level OMIM:607398
Mody
Glycosuria, Neonatal hypoglycemia, Insulin-resistant diabetes mellitus, Abnormal insulin level, T... ORPHA:552
Hepatitis, Fulminant Viral, Susceptibility To
Hepatic failure, Hashimoto thyroiditis, Hepatomegaly, Jaundice, Elevated hepatic transaminase, Fu... OMIM:618549
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Fasting hypoglycemia, Hyperinsulinemia, Pancreatic islet-cell hyperplasia, Reactive hypoglycemia,... ORPHA:276608
Body Mass Index Quantitative Trait Locus 20
Hyperinsulinemia OMIM:618406
Familial Partial Lipodystrophy, Köbberling Type
Diabetes mellitus, Insulin resistance, Hyperinsulinemia ORPHA:79084
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hypoglycemic seizures, Fasting hypoglycemia, Excessive insulin response to glucagon test, Hyperin... ORPHA:276580
Combined Oxidative Phosphorylation Deficiency 16
Microvesicular hepatic steatosis, Elevated hepatic transaminase OMIM:615395
Obesity Due To Melanocortin 4 Receptor Deficiency
Type II diabetes mellitus, Hyperinsulinemia ORPHA:71529
Hypertriglyceridemia, Transient Infantile
Hepatic steatosis, Hepatomegaly, Elevated hepatic transaminase, Hypertriglyceridemia, Hepatic fib... OMIM:614480
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Hyperinsulinemia ORPHA:329249
Nephropathy, Progressive Tubulointerstitial, With Cholestatic Liver Disease
Elevated hepatic transaminase, Cholestatic liver disease OMIM:602114
Congenital Disorder Of Glycosylation, Type Iip
Hepatic steatosis, Hypercholesterolemia, Decreased liver function, Elevated hepatic transaminase,... OMIM:616829
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Microvesicular hepatic steatosis, Hepatic failure, Hypoglycemia, Cholestasis, Jaundice, Elevated ... OMIM:617156
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1
Delayed thelarche, Delayed puberty, Hyperinsulinemic hypoglycemia OMIM:616033
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hypoglycemic seizures, Fasting hypoglycemia, Excessive insulin response to glucagon test, Hyperin... ORPHA:276575
Acth Deficiency, Isolated
Fasting hypoglycemia, Cholestasis, Decreased circulating cortisol level, Jaundice, Adrenal hypopl... OMIM:201400
Obesity Due To Sim1 Deficiency
Glucose intolerance, Hyperinsulinemia ORPHA:369873
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Diabetic ketoacidosis, Fasting hypoglycemia, Hypoglycemia, Hyperinsulinemia, Insulin-resistant di... OMIM:262190
Obesity Due To Prohormone Convertase I Deficiency
Gonadotropin deficiency, Hypoglycemic seizures, Hyperinsulinemia, Central adrenal insufficiency, ... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Gonadotropin deficiency, Hypoglycemic seizures, Hyperinsulinemia, Central adrenal insufficiency, ... ORPHA:71526
Orthostatic Hypotension 2
Hypoglycemia OMIM:618182
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Multiple pancreatic beta-cell adenomas, Neonatal hypoglycemia, Abnormal response to glucagon stim... ORPHA:79644
Corticosterone Methyloxidase Type Ii Deficiency
Decreased circulating aldosterone level, Increased circulating corticosterone level, Increased ci... OMIM:610600
Pituitary Hormone Deficiency, Combined, 2
Adrenal insufficiency, Hypoglycemic seizures, Neonatal hypoglycemia, Hypothyroidism, Panhypopitui... OMIM:262600
Neutral Lipid Storage Disease With Myopathy
Hepatic steatosis, Hepatomegaly, Elevated hepatic transaminase, Hypertriglyceridemia, Diabetes me... OMIM:610717
Cholestasis-Lymphedema Syndrome
Hyperlipidemia, Hepatomegaly, Jaundice, Elevated hepatic transaminase, Cirrhosis, Neonatal choles... OMIM:214900
Hyperinsulinism Due To Ucp2 Deficiency
Hypoglycemic seizures, Excessive insulin response to glucagon test, Recurrent hypoglycemia, React... ORPHA:276556
Short Fifth Metacarpals-Insulin Resistance Syndrome
Hyperinsulinemia ORPHA:66518
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Glycosuria, Ketotic hypoglycemia, Hyperlipidemia, Elevated hepatic transaminase, Postprandial hyp... ORPHA:2089
Plin1-Related Familial Partial Lipodystrophy
Abnormal circulating hormone concentration, Insulin-resistant diabetes mellitus at puberty, Hyper... ORPHA:280356
Late-Onset Familial Hypoaldosteronism
Abnormal circulating corticosterone level, Decreased circulating aldosterone level, Elevated seru... ORPHA:556037
Glycogen Storage Disease Ixc
Hypoglycemia, Fasting hypoglycemia, Bile duct proliferation, Increased hepatic glycogen content, ... OMIM:613027
Bdv Syndrome
Hypogonadotropic hypogonadism, Decreased circulating follicle stimulating hormone concentration, ... OMIM:619326
Blue Diaper Syndrome
Recurrent hypoglycemia, Decreased circulating T4 level, Elevated circulating thyroid-stimulating ... ORPHA:94086
Bile Acid Synthesis Defect, Congenital, 3
Hepatic failure, Hepatomegaly, Jaundice, Intrahepatic cholestasis, Hepatitis, Elevated hepatic tr... OMIM:613812
Insulinoma
Nonketotic hypoglycemia, Hyperinsulinemia, Recurrent hypoglycemia, Pituitary prolactin cell adeno... ORPHA:97279
Early-Onset Familial Hypoaldosteronism
Abnormal circulating corticosterone level, Decreased circulating aldosterone level, Elevated seru... ORPHA:556030
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Hypoglycemia, Hyperlipidemia, Delayed puberty, Increased hepatic glycogen content, Hepatomegaly, ... ORPHA:369
Low Phospholipid-Associated Cholelithiasis
Cholelithiasis, Biliary cirrhosis, Sclerosing cholangitis, Biliary tract obstruction, Cholangitis... ORPHA:69663
Obesity Due To Congenital Leptin Deficiency
Hyperinsulinemia, Decreased serum testosterone concentration, Decreased serum estradiol, Hypergon... ORPHA:66628
Solitary Fibrous Tumor/Hemangiopericytoma
Recurrent hypoglycemia, Hypoglycemia, Hypoinsulinemia ORPHA:2126
X-Linked Sideroblastic Anemia
Glucose intolerance, Elevated hepatic transaminase ORPHA:75563
Cholestasis, Intrahepatic, Of Pregnancy, 1
Abnormal liver function tests during pregnancy, Intrahepatic cholestasis, Elevated hepatic transa... OMIM:147480
Lipodystrophy, Familial Partial, Type 3
Insulin resistance, Hyperinsulinemia, Insulin-resistant diabetes mellitus, Type II diabetes melli... OMIM:604367
Congenital Isolated Acth Deficiency
Hypoglycemic seizures, Neonatal hypoglycemia, Decreased circulating cortisol level, Adrenal hypop... ORPHA:199296
Obesity Due To Leptin Receptor Gene Deficiency
Hyperinsulinemia, Decreased serum testosterone concentration, Decreased serum estradiol, Insulin-... ORPHA:179494
Bile Acid Conjugation Defect 1
Elevated circulating alanine aminotransferase concentration, Hepatic failure, Elevated circulatin... OMIM:619232
Glycogen Storage Disease Iii
Hypoglycemia, Hyperlipidemia, Hepatomegaly, Elevated hepatic transaminase, Hepatic fibrosis OMIM:232400
Hemochromatosis Type 2
Congenital hepatic fibrosis, Elevated hepatic transaminase, Diabetes mellitus, Hypogonadism, Abno... ORPHA:79230
Bangstad Syndrome
Primary gonadal insufficiency, Hypothyroidism, Hyperinsulinemia, Abnormality of the parathyroid g... ORPHA:1227
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Increased circulating progesterone, Adrenocorticotropic hormone excess, Primary adrenal insuffici... ORPHA:90793
Short Stature, Dauber-Argente Type
Fasting hyperinsulinemia OMIM:619489
Bile Acid Synthesis Defect, Congenital, 2
Hepatic failure, Hepatomegaly, Jaundice, Intrahepatic cholestasis, Elevated hepatic transaminase,... OMIM:235555
Retinitis Pigmentosa
Type II diabetes mellitus, Hypogonadism, Hyperinsulinemia ORPHA:791
Adrenocortical Carcinoma
Increased circulating androstenedione concentration, Adrenocortical carcinoma, Increased urinary ... ORPHA:1501
Carnitine Palmitoyl Transferase 1A Deficiency
Transient hyperlipidemia, Hepatic failure, Hypoglycemia, Hepatomegaly, Elevated hepatic transaminase ORPHA:156
Bile Acid Synthesis Defect, Congenital, 4
Hepatic failure, Hepatomegaly, Intrahepatic cholestasis, Giant cell hepatitis, Prolonged neonatal... OMIM:214950
Tenorio Syndrome
Hypoglycemia, Hypoinsulinemia OMIM:616260
Infantile Liver Failure Syndrome 2
Acute hepatic failure, Hypoglycemia, Elevated hepatic transaminase, Jaundice OMIM:616483
Portal Hypertension, Noncirrhotic, 1
Elevated hepatic transaminase, Portal hypertension, Hepatomegaly OMIM:617068
Bile Acid Synthesis Defect, Congenital, 1
Hepatic failure, Hepatomegaly, Jaundice, Intrahepatic cholestasis, Giant cell hepatitis, Elevated... OMIM:607765
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Hepatosplenomegaly, Hepatomegaly, Jaundice, Elevated hepatic iron concentration, Elevated hepatic... OMIM:616860
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Type II diabetes mellitus, Hypergonadotropic hypogonadism, Hyperinsulinemia ORPHA:3085
Cholestasis, Progressive Familial Intrahepatic, 8
Sclerosing cholangitis, Portal hypertension, Elevated circulating alanine aminotransferase concen... OMIM:619662
Estrogen Resistance Syndrome
Abnormal circulating hormone concentration, Hyperinsulinemia, Absence of pubertal development, In... ORPHA:785
Sclerosing Cholangitis, Neonatal
Biliary cirrhosis, Sclerosing cholangitis, Portal hypertension, Cholestasis, Hepatomegaly, Jaundi... OMIM:617394
Hyperinsulinism Due To Hnf4A Deficiency
Glycosuria, Fasting hypoglycemia, Neonatal hypoglycemia, Hyperinsulinemia, Pancreatic islet-cell ... ORPHA:263455
Gallbladder Disease 1
Cholelithiasis, Cholangitis, Cholecystitis, Cholesterol gallstones, Jaundice, Elevated hepatic tr... OMIM:600803
Bile Acid Synthesis Defect, Congenital, 5
Hepatic failure, Portal hypertension, Hepatomegaly, Jaundice, Portal fibrosis, Elevated hepatic t... OMIM:616278
Congenital Bile Acid Synthesis Defect Type 3
Elevated circulating alanine aminotransferase concentration, Hepatic failure, Hepatosplenomegaly,... ORPHA:79302
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Increased circulating lactate dehydrogenase concentration, Hepatomegaly, Hypoketotic hypoglycemia... OMIM:600649
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
Hepatic steatosis, Insulin resistance, Hepatomegaly, Elevated hepatic transaminase, Diabetes mell... OMIM:615381
Cholestasis, Progressive Familial Intrahepatic, 6
Periportal fibrosis, Elevated gamma-glutamyltransferase level, Intrahepatic cholestasis, Elevated... OMIM:619484
Primary Pigmented Nodular Adrenocortical Disease
Hepatic steatosis, Hyperlipidemia, Pigmented micronodular adrenocortical disease, Increased urina... ORPHA:189439
Telangiectasia, Hereditary Hemorrhagic, Type 5
Portal hypertension, Elevated hepatic transaminase OMIM:615506
Insulin-Resistance Syndrome Type B
Glycosuria, Diabetic ketoacidosis, Fasting hypoglycemia, Insulin resistance, Hyperinsulinemia, In... ORPHA:2298
Congenital Bile Acid Synthesis Defect Type 2
Increased circulating lactate dehydrogenase concentration, Hepatic failure, Hepatic steatosis, Ch... ORPHA:79303
Biliary Atresia, Extrahepatic
Bile duct proliferation, Atretic gallbladder, Hepatomegaly, Jaundice, Extrahepatic biliary duct a... OMIM:210500
Cholestasis, Progressive Familial Intrahepatic, 3
Bile duct proliferation, Hepatomegaly, Jaundice, Intrahepatic cholestasis, Portal fibrosis, Eleva... OMIM:602347
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Glycosuria, Hypoglycemia, Hepatomegaly, Elevated hepatic transaminase, Diabetes mellitus, Elevate... OMIM:616026
Cushing Syndrome Due To Macronodular Adrenal Hyperplasia
Hepatic steatosis, Hyperlipidemia, Abnormal response to corticotropin releasing hormone stimulati... ORPHA:189427
Galactokinase Deficiency
Hypoglycemia, Hypergonadotropic hypogonadism, Hyperinsulinemia ORPHA:79237
Congenital Bile Acid Synthesis Defect Type 4
Cholelithiasis, Abnormal enzyme/coenzyme activity, Giant cell hepatitis, Elevated hepatic transam... ORPHA:79095
Severe Neurodegenerative Syndrome With Lipodystrophy
Insulin resistance, Hyperinsulinemia ORPHA:363400
Neutropenia, Severe Congenital, 8, Autosomal Dominant
Elevated hepatic transaminase, Steatorrhea OMIM:618752
Perlman Syndrome
Hyperinsulinemia ORPHA:2849
Pigmented Nodular Adrenocortical Disease, Primary, 1
Decreased circulating dehydroepiandrosterone concentration, Increased serum testosterone level, I... OMIM:610489
Interstitial Nephritis, Karyomegalic
Glycosuria, Elevated hepatic transaminase OMIM:614817
Parenteral Nutrition-Associated Cholestasis
Cholelithiasis, Hepatic steatosis, Hepatic failure, Portal hypertension, Hyperlipidemia, Elevated... ORPHA:567983
Donohue Syndrome
Fasting hypoglycemia, Hyperinsulinemia, Pancreatic islet-cell hyperplasia, Precocious puberty, Po... OMIM:246200
X-Linked Acrogigantism
Diabetes insipidus, Increased serum insulin-like growth factor 1, Hypopituitarism, Decreased thyr... ORPHA:300373
Pigmented Nodular Adrenocortical Disease, Primary, 2
Primary hypercortisolism, Paradoxical increased cortisol secretion on dexamethasone suppression t... OMIM:610475
Multiple Endocrine Neoplasia Type 4
Pituitary corticotropic cell adenoma, Pulmonary carcinoid tumor, Thymoma, Neuroendocrine neoplasm... ORPHA:276152
46,Xy Disorder Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Primary gonadal insufficiency, Delayed puberty, Elevated circulating luteinizing hormone level, A... ORPHA:90796
Congenital Disorder Of Glycosylation, Type Ib
Hyperinsulinemic hypoglycemia OMIM:602579
Congenital Generalized Lipodystrophy
Precocious puberty in females, Insulin resistance, Diabetes mellitus, Hyperinsulinemia ORPHA:528
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Increased circulating progesterone, Abnormal response to ACTH stimulation test, Decreased circula... ORPHA:95699
Isolated Biliary Atresia
Hypothyroidism, Periportal fibrosis, Cholestasis, Bile duct proliferation, Elevated gamma-glutamy... ORPHA:30391
Mandibuloacral Dysplasia With Type B Lipodystrophy
Glucose intolerance, Hyperglycemia, Hyperinsulinemia, Insulin-resistant diabetes mellitus OMIM:608612
Mpi-Cdg
Hypothyroidism, Hyperinsulinemic hypoglycemia ORPHA:79319
Mandibuloacral Dysplasia
Glucose intolerance, Insulin resistance, Hyperinsulinemia, Insulin-resistant diabetes mellitus ORPHA:2457
Dopamine Beta-Hydroxylase Deficiency
Hypoglycemia, Insulin resistance, Hyperinsulinemia ORPHA:230
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Hypoglycemic seizures, Neonatal hypoglycemia, Fasting hyperinsulinemia, Hypoketotic hypoglycemia,... ORPHA:71212
Rabson-Mendenhall Syndrome
Diabetic ketoacidosis, Hypothyroidism, Fasting hypoglycemia, Insulin resistance, Increased pineal... ORPHA:769
Mandibuloacral Dysplasia With Type A Lipodystrophy
Hyperglycemia, Impaired glucose tolerance, Hyperinsulinemia, Insulin-resistant diabetes mellitus OMIM:248370
Acquired Generalized Lipodystrophy
Insulin resistance, Hyperinsulinemia, Insulin-resistant diabetes mellitus ORPHA:79086
Alstrom Syndrome
Hypothyroidism, Diabetes insipidus, Hyperinsulinemia, Hypergonadotropic hypogonadism, Insulin-res... OMIM:203800
Lipodystrophy, Familial Partial, Type 2
Type II diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Insulin-resistant diabetes mellitus OMIM:151660
Lipodystrophy, Congenital Generalized, Type 4
Insulin resistance, Hyperinsulinemia OMIM:613327
Woodhouse-Sakati Syndrome
Hypothyroidism, Hyperinsulinemia, Delayed puberty, Decreased serum testosterone concentration, De... ORPHA:3464
Apparent Mineralocorticoid Excess
Abnormality of circulating cortisol level, Decreased circulating aldosterone level, Decreased cir... ORPHA:320
Leprechaunism
Fasting hypoglycemia, Insulin resistance, Hyperinsulinemia, Central hypothyroidism, Increased cir... ORPHA:508
Prader-Willi Syndrome
Adrenal insufficiency, Hypogonadotropic hypogonadism, Hyperinsulinemia, Decreased response to gro... OMIM:176270
Cushing Disease
Pituitary corticotropic cell adenoma, Increased urinary cortisol level, Paradoxical increased cor... ORPHA:96253
Lipodystrophy, Congenital Generalized, Type 1
Decreased serum leptin, Insulin-resistant diabetes mellitus at puberty, Hyperinsulinemia OMIM:608594
Lipodystrophy, Congenital Generalized, Type 2
Decreased serum leptin, Insulin-resistant diabetes mellitus at puberty, Hyperinsulinemia OMIM:269700
Atypical Werner Syndrome
Glycosuria, Hyperinsulinemia, Delayed puberty, Insulin-resistant diabetes mellitus, Fasting hyper... ORPHA:79474
Cushing Syndrome Due To Ectopic Acth Secretion
Pulmonary carcinoid tumor, Medullary thyroid carcinoma, Increased urinary cortisol level, Atypica... ORPHA:99889
Steinert Myotonic Dystrophy
Insulin resistance, Hyperinsulinemia, Abnormality of thyroid physiology, Decreased serum testoste... ORPHA:273
African Trypanosomiasis
Abnormality of circulating cortisol level, Hepatosplenomegaly, Hepatomegaly, Jaundice, Abnormalit... ORPHA:3385
Turner Syndrome
Hyperinsulinemia, Hashimoto thyroiditis, Thyroiditis, Increased circulating gonadotropin level, T... ORPHA:881
Mosaic Monosomy X
Hyperinsulinemia, Hashimoto thyroiditis, Thyroiditis, Increased circulating gonadotropin level, T... ORPHA:99228
Monosomy X
Hyperinsulinemia, Hashimoto thyroiditis, Thyroiditis, Increased circulating gonadotropin level, T... ORPHA:99226
Turner Syndrome Due To Structural X Chromosome Anomalies
Hyperinsulinemia, Hashimoto thyroiditis, Thyroiditis, Increased circulating gonadotropin level, T... ORPHA:99413
Alström Syndrome
Primary hypothyroidism, Precocious puberty in females, Insulin resistance, Hyperinsulinemia, Pube... ORPHA:64
Pmm2-Cdg
Hypogonadotropic hypogonadism, Insulin resistance, Hyperinsulinemia, Elevated circulating growth ... ORPHA:79318

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 Crtc2

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 Crtc2.

There are 3 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Hepatic Crtc2 controls whole body energy metabolism via a miR-34a-Fgf21 axis. Nature communications (November 2017) Crtc2tm1c(EUCOMM)Wtsi Crtc2tm1a(EUCOMM)Wtsi PMC5709393
SIK2 is critical in the regulation of lipid homeostasis and adipogenesis in vivo. Diabetes (June 2014) Crtc2tm1a(EUCOMM)Wtsi 24898145
Molecular characterization of mutant mouse strains generated from the EUCOMM/KOMP-CSD ES cell resource. Mammalian genome : official journal of the International Mammalian Genome Society (August 2013) Crtc2tm1a(EUCOMM)Wtsi PMC3745610

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MGI Allele Allele Type Produced
Crtc2tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Crtc2tm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells

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