Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
insulin-like growth factor 2 mRNA binding protein 2
Synonyms:
IMP-2,  IMP2,  C330012H03Rik

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 Igf2bp2 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 Igf2bp2 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Type 2 Diabetes Mellitus
Insulin resistance, Increased waist to hip ratio, Type II diabetes mellitus OMIM:125853

The table below shows human diseases predicted to be associated to Igf2bp2 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Transient Neonatal Diabetes Mellitus
Failure to thrive, Hypoinsulinemia, Small for gestational age, Maturity-onset diabetes of the you... ORPHA:99886
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Abnormal circulating insulin concentration, Increased hepatic glycogen content, Hypoketotic hypog... ORPHA:293964
Glycogen Storage Disease Vi
Hyperlipidemia, Hepatomegaly, Increased hepatic glycogen content, Hypoglycemia, Hypertriglyceride... OMIM:232700
Plin1-Related Familial Partial Lipodystrophy
Reduced subcutaneous adipose tissue, Hyperinsulinemia, Lipoatrophy, Loss of gluteal subcutaneous ... ORPHA:280356
Obesity Due To Melanocortin 4 Receptor Deficiency
Hyperinsulinemia, Type II diabetes mellitus, Hypertriglyceridemia, Childhood-onset truncal obesit... ORPHA:71529
Multiple Symmetric Lipomatosis
Insulin resistance, Multiple lipomas, Hepatomegaly, Abnormal adipose tissue morphology ORPHA:2398
Lipodystrophy, Familial Partial, Type 3
Reduced subcutaneous adipose tissue, Hirsutism, Hyperinsulinemia, Type II diabetes mellitus, Loss... OMIM:604367
Obesity Due To Prohormone Convertase I Deficiency
Failure to thrive, Hyperinsulinemia, Decreased response to growth hormone stimulation test, Centr... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Failure to thrive, Hyperinsulinemia, Decreased response to growth hormone stimulation test, Centr... ORPHA:71526
Lipodystrophy, Congenital Generalized, Type 3
Reduced subcutaneous adipose tissue, Hirsutism, Hypocalcemia, Hepatomegaly, Splenomegaly, Hepatos... OMIM:612526
Solitary Fibrous Tumor/Hemangiopericytoma
Genital neoplasm, Hypophosphatemic rickets, Neoplasm of the liver, Hypoinsulinemia, Neoplasm, Ute... ORPHA:2126
Hyperinsulinism Due To Hnf1A Deficiency
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hepatomegaly, Small for gestational age, Maturit... ORPHA:324575
Lipodystrophy, Familial Partial, Type 1
Increased adipose tissue around the neck, Hepatomegaly, Loss of gluteal subcutaneous adipose tiss... OMIM:608600
Mody
Glucose intolerance, Exocrine pancreatic insufficiency, Hypoinsulinemia, Hyperinsulinemic hypogly... ORPHA:552
Familial Partial Lipodystrophy, Köbberling Type
Hyperinsulinemia, Pancreatitis, Lipoatrophy, Hepatomegaly, Diabetes mellitus, Insulin resistance,... ORPHA:79084
Short Stature Due To Ghsr Deficiency
Decreased body weight, Hypoglycemia, Delayed puberty, Decreased serum insulin-like growth factor ... ORPHA:314811
Congenital Generalized Lipodystrophy
Failure to thrive, Hypertrichosis, Low anterior hairline, Hyperinsulinemia, Hepatomegaly, Precoci... ORPHA:528
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Abnormal circulating insulin concentration, Decreased circulating free T3, Abnormal circulating s... ORPHA:171706
Hyperinsulinemic Hypoglycemia, Familial, 2
Hyperinsulinemic hypoglycemia, Hypoglycemia, Large for gestational age, Pancreatic islet-cell hyp... OMIM:601820
Growth Hormone Insensitivity Syndrome
Failure to thrive, Type II diabetes mellitus, Truncal obesity, Hypoglycemia, Fine hair, Diabetes ... ORPHA:181393
Hyperinsulinemic Hypoglycemia, Familial, 1
Large for gestational age, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia, Hypo... OMIM:256450
Severe Neurodegenerative Syndrome With Lipodystrophy
Reduced subcutaneous adipose tissue, Generalized hirsutism, Reduced intraabdominal adipose tissue... ORPHA:363400
Familial Apolipoprotein Gene Cluster Deletion Syndrome
Decreased circulating apolipoprotein AI concentration, Hypocholesterolemia, Decreased HDL cholest... OMIM:620058
Lipodystrophy, Familial Partial, Type 2
Reduced subcutaneous adipose tissue, Increased adipose tissue around the neck, Hirsutism, Hyperin... OMIM:151660
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hepatomegaly, Diffuse pancreatic islet hyperplas... ORPHA:276580
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Hypocholesterolemia, Hepatomegaly, Hypersplenism, Splenomegaly OMIM:610539
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Failure to thrive, Hyperlipidemia, Hepatomegaly, Increased hepatic glycogen content, Cirrhosis, H... ORPHA:369
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hepatomegaly, Diffuse pancreatic islet hyperplas... ORPHA:276575
Morbid Obesity And Spermatogenic Failure
Type II diabetes mellitus, Increased LDL cholesterol concentration, Decreased HDL cholesterol con... OMIM:615703
Hyperinsulinemic Hypoglycemia, Familial, 7
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemia, Pancreatic islet-cell hyperplasia,... OMIM:610021
Bile Acid Synthesis Defect, Congenital, 1
Failure to thrive, Giant cell hepatitis, Hepatomegaly, Hyperbilirubinemia, Steatorrhea, Hepatic f... OMIM:607765
Hyperinsulinism Due To Glucokinase Deficiency
Type II diabetes mellitus, Hyperinsulinemic hypoglycemia, Abnormal C-peptide level, Hypoketotic h... ORPHA:79299
Isolated Growth Hormone Deficiency, Type Ia
Hypoglycemia, Reduced circulating growth hormone concentration, Decreased serum insulin-like grow... OMIM:262400
Coronary Artery Disease, Autosomal Dominant 2
Glucose intolerance, Hyperlipidemia, Impaired glucose tolerance, Hypertriglyceridemia, Hyperchole... OMIM:610947
Lipase Deficiency, Combined
Hypertriglyceridemia, Lipodystrophy, Type II diabetes mellitus, Pancreatitis OMIM:246650
Akt2-Related Familial Partial Lipodystrophy
Hyperlipidemia, Hepatomegaly, Decreased serum leptin, Hypertriglyceridemia, Lipodystrophy, Increa... ORPHA:79085
Mandibuloacral Dysplasia
Increased adipose tissue around the neck, Glucose intolerance, Hyperinsulinemia, Lipoatrophy, Spa... ORPHA:2457
Lipe-Related Familial Partial Lipodystrophy
Increased adipose tissue around the neck, Hyperlipidemia, Hepatomegaly, Decreased adiponectin lev... ORPHA:435660
Insulin Autoimmune Syndrome
Hyperinsulinemic hypoglycemia, Insulin resistance, Reactive hypoglycemia, Nonketotic hypoglycemia... ORPHA:411593
3-Methylglutaconic Aciduria Type 1
Hypoglycemia, Failure to thrive, Hepatomegaly ORPHA:67046
Galactokinase Deficiency
Failure to thrive, Hyperinsulinemia, Hepatomegaly, Small for gestational age, Hypergonadotropic h... ORPHA:79237
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Failure to thrive, Microvesicular hepatic steatosis, Hepatic failure, Cirrhosis, Cholestasis, Hyp... OMIM:617156
Acquired Generalized Lipodystrophy
Generalized hirsutism, Hyperinsulinemia, Hepatomegaly, Abnormal circulating lipid concentration, ... ORPHA:79086
Hyperinsulinism Due To Insr Deficiency
Hyperinsulinemic hypoglycemia, Abnormal C-peptide level, Hypoglycemia, Fasting hyperinsulinemia, ... ORPHA:263458
Obesity
Increased waist to hip ratio, Obesity, Decreased resting energy expenditure OMIM:601665
Hyperinsulinemic Hypoglycemia, Familial, 6
Failure to thrive, Abnormality of the pancreatic islet cells, Hyperinsulinemic hypoglycemia, Asym... OMIM:606762
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Hypoglycemia, Hypertriglyceridemia ORPHA:366
Chylomicron Retention Disease
Failure to thrive, Steatorrhea, Decreased LDL cholesterol concentration, Hypocholesterolemia, Hyp... OMIM:246700
Hyperinsulinism Due To Ucp2 Deficiency
Hyperinsulinemic hypoglycemia, Hepatomegaly, Diffuse pancreatic islet hyperplasia, Hypoketotic hy... ORPHA:276556
Lipodystrophy, Familial Partial, Type 4
Lipoatrophy, Hypertriglyceridemia, Lipodystrophy, Insulin-resistant diabetes mellitus, Insulin re... OMIM:613877
Lipodystrophy, Familial Partial, Type 5
Hepatomegaly, Diabetic ketoacidosis, Increased C-peptide level, Decreased serum leptin, Hypertrig... OMIM:615238
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hypoglycemia, Hepatomegaly OMIM:609016
Hyperinsulinemic Hypoglycemia, Familial, 3
Hyperinsulinemic hypoglycemia, Hypoglycemic seizures, Diabetes mellitus OMIM:602485
Peroxisome Biogenesis Disorder 3B
Failure to thrive, Hypocholesterolemia, Hepatomegaly, Steatorrhea OMIM:266510
Cidec-Related Familial Partial Lipodystrophy
Hyperlipidemia, Pancreatitis, Hepatomegaly, Decreased adiponectin level, Loss of gluteal subcutan... ORPHA:435651
Mitochondrial Complex Iii Deficiency, Nuclear Type 3
Hypoglycemia, Hepatomegaly OMIM:615158
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoketotic hypoglycemia, Reactive hypoglycemia,... ORPHA:276608
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis
Failure to thrive, Decreased HDL cholesterol concentration, Decreased LDL cholesterol concentrati... OMIM:616834
Squalene Synthase Deficiency
Abnormality of hair pigmentation, Increased circulating farnesol concentration, Hypocholesterolem... OMIM:618156
Hyperinsulinemic Hypoglycemia, Familial, 5
Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemic seizures OMIM:609968
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Failure to thrive, Hepatomegaly, Left ventricular hypertrophy, Elevated circulating aspartate ami... OMIM:619048
Combined Oxidative Phosphorylation Deficiency 34
Failure to thrive, Hepatomegaly, Hepatic failure, Hypoglycemia, Primary adrenal insufficiency, Hy... OMIM:617872
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Elevated circulating growth hormone concentration, Hyperinsulinemic hypoglycemia, Increased circu... ORPHA:79644
Insulin-Resistance Syndrome Type B
Hyperinsulinemia, Multiple myeloma, Abnormal circulating fatty-acid concentration, Alopecia, Glyc... ORPHA:2298
Homozygous 11P15-P14 Deletion Syndrome
Hypoglycemia, Failure to thrive, Hyperinsulinemia OMIM:606528
Glycogen Storage Disease Ixa1
Hepatomegaly, Splenomegaly, Hypoglycemia, Hypertriglyceridemia, Elevated hepatic transaminase, Hy... OMIM:306000
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1
Low anterior hairline, Hyperinsulinemic hypoglycemia, Delayed thelarche, Diabetes mellitus, Delay... OMIM:616033
Insulinomatosis And Diabetes Mellitus
Type II diabetes mellitus, Hyperinsulinemic hypoglycemia, Impaired glucose tolerance, Insulinoma,... OMIM:147630
Body Mass Index Quantitative Trait Locus 19
Hyperinsulinemia, Hyperlipidemia, Increased serum leptin, Hypertriglyceridemia, Insulin resistanc... OMIM:617885
Neonatal Hemochromatosis
Increased circulating ferritin concentration, Congenital hepatic fibrosis, Hypoglycemia, Increase... ORPHA:446
Polyendocrine-Polyneuropathy Syndrome
Type II diabetes mellitus, Decreased serum testosterone concentration, Hypoinsulinemia, Alopecia,... ORPHA:453533
Donohue Syndrome
Postprandial hyperglycemia, Hypertrichosis, Hyperinsulinemia, Precocious puberty, Severe failure ... OMIM:246200
Hyperinsulinemic Hypoglycemia, Familial, 4
Hyperinsulinemic hypoglycemia, Hypoglycemic seizures OMIM:609975
Carnitine Deficiency, Systemic Primary
Failure to thrive, Hepatomegaly, Hyperammonemia, Hypoglycemia, Decreased plasma carnitine, Elevat... OMIM:212140
Mandibuloacral Dysplasia With Type B Lipodystrophy
Glucose intolerance, Hyperlipidemia, Hyperinsulinemia, Sparse hair, Flexion contracture, Alopecia... OMIM:608612
Mandibuloacral Dysplasia With Type A Lipodystrophy
Reduced subcutaneous adipose tissue, Increased adipose tissue around the neck, Sparse scalp hair,... OMIM:248370
Glycogen Storage Disease Iii
Hyperlipidemia, Hepatomegaly, Elevated circulating creatine kinase concentration, Hypoglycemia, E... OMIM:232400
Potocki-Lupski Syndrome
Hypothyroidism, Failure to thrive, Hypocholesterolemia, Small for gestational age OMIM:610883
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Hepatomegaly, Flexion contracture, Hypertriglyceridemia, Lipodystrophy, Elevated hepatic transami... OMIM:615381
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial
Hypoglycemia, Hepatic steatosis, Impaired gluconeogenesis, Hepatic failure OMIM:261650
Hyperinsulinism Due To Hnf4A Deficiency
Hypophosphatemic rickets, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Abnormal circulating f... ORPHA:263455
Congenital Disorder Of Glycosylation, Type Ia
Failure to thrive, Hepatomegaly, Flexion contracture, Steatorrhea, Hypergonadotropic hypogonadism... OMIM:212065
Perlman Syndrome
Abnormal pancreas morphology, Hyperinsulinemia, Hepatomegaly, Inguinal hernia, Nephroblastoma, Fe... ORPHA:2849
Primary Pigmented Nodular Adrenocortical Disease
Alopecia, Increased body weight, Dorsocervical fat pad, Cutaneous myxoma, Abnormal subcutaneous f... ORPHA:189439
Hypoglycemia, Leucine-Induced
Hypoglycemia, Hyperinsulinemic hypoglycemia OMIM:240800
Alg12-Cdg
Failure to thrive, Abnormal adipose tissue morphology, Camptodactyly, Elevated hepatic transamina... ORPHA:79324
Insulinoma
Abnormality of the pancreatic islet cells, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Neopl... ORPHA:97279
Chylomicron Retention Disease
Failure to thrive, Steatorrhea, Elevated hepatic transaminase, Hypocholesterolemia, Increased hep... ORPHA:71
Glycogen Storage Disease Ixc
Hepatomegaly, Splenomegaly, Increased hepatic glycogen content, Cirrhosis, Hypoglycemia, Hypertri... OMIM:613027
Maternal Uniparental Disomy Of Chromosome 4
Decreased body weight, Abetalipoproteinemia, Elevated circulating creatine kinase concentration, ... ORPHA:96180
Lipodystrophy, Congenital Generalized, Type 4
Failure to thrive, Hirsutism, Hyperinsulinemia, Hepatomegaly, Flexion contracture, Splenomegaly, ... OMIM:613327
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Postprandial hyperglycemia, Hypertrichosis, Hyperinsulinemia, Precocious puberty, Small for gesta... OMIM:262190
Mitochondrial Complex Iii Deficiency, Nuclear Type 5
Decreased liver function, Hyperammonemia, Small for gestational age, Increased serum pyruvate, El... OMIM:615160
Obesity Due To Congenital Leptin Deficiency
Hyperinsulinemia, Hypoplasia of the ovary, Decreased serum testosterone concentration, Hypergonad... ORPHA:66628
Retinitis Pigmentosa
Hyperinsulinemia, Type II diabetes mellitus, Hypogonadism, Atypical scarring of skin, Obesity ORPHA:791
Cushing Syndrome Due To Macronodular Adrenal Hyperplasia
Abdominal obesity, Paradoxical increased cortisol secretion on dexamethasone suppression test, Hi... ORPHA:189427
Hypobetalipoproteinemia, Familial, 1
Steatorrhea, Decreased HDL cholesterol concentration, Elevated circulating aspartate aminotransfe... OMIM:615558
Lipodystrophy, Congenital Generalized, Type 1
Reduced subcutaneous adipose tissue, Hirsutism, Reduced intraabdominal adipose tissue, Hyperinsul... OMIM:608594
Obesity Due To Leptin Receptor Gene Deficiency
Hyperinsulinemia, Decreased serum testosterone concentration, Hypoplasia of the ovary, Hypergonad... ORPHA:179494
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Failure to thrive, Abnormal circulating acetylcarnitine concentration, Hyperinsulinemic hypoglyce... ORPHA:71212
Hemochromatosis, Neonatal
Increased circulating ferritin concentration, Hepatocellular necrosis, Hepatic failure, Cirrhosis... OMIM:231100
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Hyperinsulinemia, Type II diabetes mellitus, Hypergonadotropic hypogonadism, Keloids, Obesity ORPHA:3085
Lipodystrophy, Congenital Generalized, Type 2
Reduced subcutaneous adipose tissue, Hirsutism, Reduced intraabdominal adipose tissue, Hyperinsul... OMIM:269700
Pyruvate Dehydrogenase E3 Deficiency
Failure to thrive, Hepatomegaly, Hyperammonemia, Hepatic failure, Hyperisoleucinemia, Hypoglycemi... ORPHA:2394
Fanconi-Bickel Syndrome
Postprandial hyperglycemia, Failure to thrive, Hypophosphatemia, Hepatomegaly, Hepatic failure, I... ORPHA:2088
Multiple Endocrine Neoplasia Type 4
Pituitary growth hormone cell adenoma, Thymoma, Adrenocortical adenoma, Neuroendocrine neoplasm, ... ORPHA:276152
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Decreased liver function, Hepatomegaly, Hyperammonemia, Cachexia, Elevated circulating creatine k... ORPHA:42
Combined Oxidative Phosphorylation Deficiency 36
Failure to thrive, Elevated circulating aspartate aminotransferase concentration, Hypoglycemia, E... OMIM:617950
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Failure to thrive, Hepatocellular necrosis, Hepatomegaly, Hyperbilirubinemia, Micronodular cirrho... OMIM:251880
Low Phospholipid-Associated Cholelithiasis
Cholelithiasis, Neoplasm of the liver, Pancreatitis, Hepatocellular carcinoma, Sclerosing cholang... ORPHA:69663
Mpi-Cdg
Failure to thrive, Decreased liver function, Hepatomegaly, Hyperinsulinemic hypoglycemia, Hypothy... ORPHA:79319
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Postprandial hyperglycemia, Failure to thrive, Hyperlipidemia, Ketotic hypoglycemia, Glycosuria, ... ORPHA:2089
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Failure to thrive, Hepatomegaly, Microvesicular hepatic steatosis, Acute hepatic failure, Cirrhos... OMIM:256810
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal
Brittle hair, Hypocholesterolemia, Hepatomegaly, Sparse eyebrow OMIM:618810
Vipoma
Hepatomegaly, Benign gastrointestinal tract tumors, Adrenocortical adenoma, Increased circulating... ORPHA:97282
Obesity Due To Sim1 Deficiency
Glucose intolerance, Hyperinsulinemia, Obesity ORPHA:369873
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Failure to thrive, Hepatomegaly, Splenomegaly, Cirrhosis, Elevated circulating creatine kinase co... ORPHA:264580
Hyperinsulinism-Hyperammonemia Syndrome
Reactive hypoglycemia, Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia, Asymptomatic hype... ORPHA:35878
Abetalipoproteinemia
Failure to thrive, Abnormal circulating apolipoprotein concentration, Hepatomegaly, Hyperbilirubi... ORPHA:14
Congenital Disorder Of Glycosylation, Type Ib
Failure to thrive, Hepatomegaly, Hyperinsulinemic hypoglycemia, Steatorrhea, Hepatic failure, Cir... OMIM:602579
Alstrom Syndrome
Hyperinsulinemia, Hepatomegaly, Chronic active hepatitis, Decreased response to growth hormone st... OMIM:203800
African Iron Overload
Increased circulating ferritin concentration, Abnormal pancreas morphology, Hepatomegaly, Microno... ORPHA:139507
Multiple Endocrine Neoplasia, Type I
Pituitary adenoma, Elevated circulating growth hormone concentration, Glucagonoma, Increased circ... OMIM:131100
Somatostatinoma
Medullary thyroid carcinoma, Hepatomegaly, Steatorrhea, Adrenocortical adenoma, Neoplasm of the s... ORPHA:97283
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Obesity, Hyperinsulinemia ORPHA:329249
3-Methylcrotonyl-Coa Carboxylase Deficiency
Abnormal circulating leucine concentration, Hypoglycemia, Failure to thrive in infancy, Hyperammo... ORPHA:6
Hyperproinsulinemia
Hyperinsulinemia, Hyperglycemia OMIM:616214
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Failure to thrive, Hirsutism, Low anterior hairline, Microvesicular hepatic steatosis, Hypoglycem... OMIM:220111
Carnitine Palmitoyl Transferase 1A Deficiency
Hepatomegaly, Hepatic failure, Hypoglycemia, Elevated hepatic transaminase, Transient hyperlipidemia ORPHA:156
Propionic Acidemia
Hypoglycemia, Hepatomegaly, Hyperammonemia ORPHA:35
Pancreatic And Cerebellar Agenesis
Reduced subcutaneous adipose tissue, Failure to thrive, Hypoglycemia, Pancreatic hypoplasia, Diab... OMIM:609069
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency
Hypoglycemia, Hyperlipidemia, Hyperuricemia ORPHA:364
Body Mass Index Quantitative Trait Locus 20
Obesity, Hyperinsulinemia OMIM:618406
Tenorio Syndrome
Hypoglycemia, Hypertrichosis, Thick eyebrow, Hypoinsulinemia OMIM:616260
Cholestasis, Progressive Familial Intrahepatic, 5
Failure to thrive, Hyperammonemia, Elevated alpha-fetoprotein, Hepatic failure, Cirrhosis, Elevat... OMIM:617049
Atypical Werner Syndrome
Hyperinsulinemia, Ovarian neoplasm, Alopecia, Neoplasm of the small intestine, Glycosuria, Neopla... ORPHA:79474
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Hepatomegaly, Hepatic failure, Low plasma citrulline, Hypoglycemia, Elevated circulating alanine ... OMIM:261680
Leprechaunism
Reduced subcutaneous adipose tissue, Postprandial hyperglycemia, Hypertrichosis, Hypokalemia, Hyp... ORPHA:508
Type 2 Diabetes Mellitus
Insulin resistance, Increased waist to hip ratio, Type II diabetes mellitus OMIM:125853
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Failure to thrive, Cholestatic liver disease, Hepatomegaly, Hypoketotic hypoglycemia, Hypoglycemia ORPHA:5
Bdv Syndrome
Decreased thyroid-stimulating hormone level, Reduced TSH response to thyrotrophin-releasing hormo... OMIM:619326
Bangstad Syndrome
Hyperinsulinemia, Increased circulating cortisol level, Abnormality of the parathyroid gland, Hyp... ORPHA:1227
Dysbetalipoproteinemia
Hepatomegaly, Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, A... ORPHA:412
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Hypocalcemia, Hepatomegaly, Jaundice, Hypoproteinemia, Hyperammonemia, Small for gestational age,... ORPHA:26793
Estrogen Resistance
Glucose intolerance, Hyperinsulinemia, Impaired glucose tolerance OMIM:615363
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Hyperactive renin-angiotensin system, Failure to thrive, Breast carcinoma, Decreased circulating ... ORPHA:90790
Rabson-Mendenhall Syndrome
Reduced subcutaneous adipose tissue, Hypertrichosis, Precocious puberty, Increased C-peptide leve... ORPHA:769
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Hypophosphatemia, Hepatomegaly, Glycosuria, Hypoglycemia, Large for gestational age, Elevated hep... OMIM:616026
Ornithine Transcarbamylase Deficiency
Hypoglycemia, Hepatic failure, Splenomegaly, Hyperammonemia ORPHA:664
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Failure to thrive, Precocious puberty, Congenital hypothyroidism, Hypoglycemia, Hyponatremia, Hyp... OMIM:614736
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Failure to thrive, Pancreatitis, Hepatomegaly, Hyperammonemia, Hypoglycemia, Hyperglycinemia, Met... OMIM:251000
Secondary Intestinal Lymphangiectasia
B-cell lymphoma, Reduced circulating transferrin concentration, Secondary hyperaldosteronism, Cir... ORPHA:90363
Congenital Disorder Of Glycosylation, Type Im
Failure to thrive, Sparse eyebrow, Alopecia, Sparse eyelashes, Hypoketotic hypoglycemia, Increase... OMIM:610768
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Failure to thrive, Exocrine pancreatic insufficiency, Cholestatic liver disease, Hepatomegaly, Mi... OMIM:619418
Kaufman Oculocerebrofacial Syndrome
Failure to thrive, Hypocholesterolemia, Sparse hair, Sparse eyebrow OMIM:244450
Dubowitz Syndrome
Sparse scalp hair, Neuroblastoma, Inguinal hernia, Lymphoma, Hypocholesterolemia, Acute lymphobla... OMIM:223370
Late-Onset Isolated Acth Deficiency
Hypoparathyroidism, Failure to thrive, Pituitary adenoma, Graves disease, Adrenocorticotropic hor... ORPHA:199299
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of
Hepatomegaly, Hypoglycemia, Decreased plasma carnitine, Elevated hepatic transaminase, Hepatic st... OMIM:201450
Seckel Syndrome 10
Glucose intolerance, Elevated hemoglobin A1c, Elevated circulating luteinizing hormone level, Gly... OMIM:617253
Glycogen Storage Disease Ia
Hyperlipidemia, Pancreatitis, Hepatomegaly, Hepatocellular carcinoma, Enlarged kidney, Hypoglycem... OMIM:232200
Glutaric Acidemia I
Hypoglycemia, Failure to thrive, Hepatomegaly, Elevated circulating glutaric acid concentration OMIM:231670
Lipodystrophy, Familial Partial, Type 7
Reduced subcutaneous adipose tissue, Sparse scalp hair, Glucose intolerance, Failure to thrive, S... OMIM:606721
Bannayan-Riley-Ruvalcaba Syndrome
Neoplasm, Lipoma, Thyroid carcinoma, Uterine neoplasm, Cachexia, Neoplasm of the adrenal cortex, ... ORPHA:109
Combined Oxidative Phosphorylation Deficiency 41
Decreased circulating cortisol level, Cardiomegaly, Elevated circulating creatine kinase concentr... OMIM:618838
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency
Hypoglycemia, Failure to thrive, Acute hyperammonemia, Acute hepatic steatosis OMIM:210200
Infantile Liver Failure Syndrome 2
Acute hepatic failure, Hyperammonemia, Hypoglycemia, Elevated hepatic transaminase, Jaundice OMIM:616483
Tangier Disease
Left ventricular hypertrophy, Hepatosplenomegaly, Hypertriglyceridemia, Hypocholesterolemia, Nail... ORPHA:31150
Estrogen Resistance Syndrome
Glucose intolerance, Hyperinsulinemia, Absence of pubertal development, Absence of secondary sex ... ORPHA:785
Glycogen Storage Disease Ib
Hyperlipidemia, Pancreatitis, Hepatomegaly, Splenomegaly, Pancreatic fibrosis, Hepatocellular car... OMIM:232220
Smith-Lemli-Opitz Syndrome
Failure to thrive, Elevated 7-dehydrocholesterol, Cholestatic liver disease, Hepatomegaly, Precoc... OMIM:270400
Hepatocellular Carcinoma
Abnormality of the hepatic vasculature, Hypokalemia, Type II diabetes mellitus, Hyperbilirubinemi... ORPHA:88673
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Failure to thrive, Thyroiditis, Hyperlipidemia, Pancreatitis, Hepatomegaly, Increased hepatic gly... ORPHA:79259
Addison Disease
Thymoma, Decreased circulating cortisol level, Increased circulating renin level, Androgen insuff... ORPHA:85138
Acute Adrenal Insufficiency
Failure to thrive, Decreased circulating aldosterone level, Sparse axillary hair, Decreased circu... ORPHA:95409
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Corneal scarring, Failure to thrive, Microvesicular hepatic steatosis, Hepatomegaly, Micronodular... ORPHA:404454
Tyrosinemia, Type I
Failure to thrive, Hypophosphatemic rickets, Hepatomegaly, Hepatic failure, Elevated alpha-fetopr... OMIM:276700
Short Fifth Metacarpals-Insulin Resistance Syndrome
Hyperinsulinemia, Splenomegaly ORPHA:66518
X-Linked Acrogigantism
Increased circulating insulin-like growth factor 1 concentration, Decreased thyroid-stimulating h... ORPHA:300373
Beckwith-Wiedemann Syndrome
Exocrine pancreatic insufficiency, Hepatomegaly, Hepatoblastoma, Enlarged kidney, Large for gesta... ORPHA:116
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Decreased thyroid-stimulating hormone level, Decreased circulating T4 concentration, Decreased re... ORPHA:226307
Glycogen Storage Disease Ic
Chronic pancreatitis, Hyperlipidemia, Hepatomegaly, Hepatoblastoma, Hepatocellular carcinoma, Hyp... OMIM:232240
Fructose Intolerance, Hereditary
Failure to thrive, Hypophosphatemia, Hepatomegaly, Hyperbilirubinemia, Cirrhosis, Glycosuria, Hyp... OMIM:229600
Turner Syndrome Due To Structural X Chromosome Anomalies
Hyperinsulinemia, Alopecia, High urinary gonadotropin level, Failure to thrive in infancy, Choles... ORPHA:99413
Turner Syndrome
Hyperinsulinemia, Alopecia, High urinary gonadotropin level, Failure to thrive in infancy, Choles... ORPHA:881
Mosaic Monosomy X
Hyperinsulinemia, Alopecia, High urinary gonadotropin level, Failure to thrive in infancy, Choles... ORPHA:99228
Monosomy X
Hyperinsulinemia, Alopecia, High urinary gonadotropin level, Failure to thrive in infancy, Choles... ORPHA:99226
Liver Disease, Severe Congenital
Increased circulating ferritin concentration, Exocrine pancreatic insufficiency, Hepatomegaly, He... OMIM:619991
Woodhouse-Sakati Syndrome
Hyperlipidemia, Hyperinsulinemia, Decreased serum testosterone concentration, Decreased response ... ORPHA:3464
Generalized Glucocorticoid Resistance Syndrome
Hirsutism, Hypokalemia, Decreased circulating aldosterone level, Precocious puberty, Increased ci... ORPHA:786
Prader-Willi Syndrome
Abdominal obesity, Adrenal insufficiency, Hyperinsulinemia, Type II diabetes mellitus, Precocious... OMIM:176270
Dopamine Beta-Hydroxylase Deficiency
Hyperinsulinemia, Increased blood urea nitrogen, Hypoglycemia, Elevated circulating creatinine co... ORPHA:230
Steinert Myotonic Dystrophy
Cholelithiasis, Testicular atrophy, Hyperinsulinemia, Alopecia, Hypergonadotropic hypogonadism, N... ORPHA:273
Alström Syndrome
Hyperinsulinemia, Pancreatitis, Hepatomegaly, Abnormal liver physiology, Hepatic failure, Hypergo... ORPHA:64
Pmm2-Cdg
Multiple joint contractures, Failure to thrive, Hyperinsulinemia, Elevated circulating growth hor... 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 Igf2bp2

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 Igf2bp2.

No publications found that use IMPC mice or data for Igf2bp2.

Order Mouse and ES Cells

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MGI Allele Allele Type Produced
Igf2bp2tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Igf2bp2tm2a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Igf2bp2tm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells
Igf2bp2tm44275(L1L2_gt2) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Igf2bp2tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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