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Gene: Igf2bp2 MGI:1890358

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

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 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
Type II diabetes mellitus, Insulin resistance, Increased waist to hip ratio 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
Small for gestational age, Maternal diabetes, Maturity-onset diabetes of the young, Transient neo... ORPHA:99886
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Hypoglycemia, Large for gestational age, Obesity, Truncal obesity, Fasting hypoglycemia, Hypoinsu... OMIM:240900
Glycogen Storage Disease Vi
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Failure to thrive in infancy, ... OMIM:232700
Multiple Symmetric Lipomatosis
Hepatomegaly, Insulin resistance, Abnormal adipose tissue morphology, Multiple lipomas ORPHA:2398
Obesity Due To Melanocortin 4 Receptor Deficiency
Hypertriglyceridemia, Increased adipose tissue, Hyperinsulinemia, Obesity, Type II diabetes melli... ORPHA:71529
Plin1-Related Familial Partial Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Hypertriglycer... ORPHA:280356
Lipodystrophy, Familial Partial, Type 3
Loss of subcutaneous adipose tissue in limbs, Decreased HDL cholesterol concentration, Reduced su... OMIM:604367
Obesity Due To Prohormone Convertase I Deficiency
Decreased response to growth hormone stimulation test, Increased adipose tissue, Hyperinsulinemia... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Decreased response to growth hormone stimulation test, Increased adipose tissue, Hyperinsulinemia... ORPHA:71526
Lipodystrophy, Congenital Generalized, Type 3
Reduced subcutaneous adipose tissue, Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, Diabetes ... OMIM:612526
Solitary Fibrous Tumor
Abnormal peritoneum morphology, Hypoglycemia, Pelvic mass, Soft tissue neoplasm, Vaginal neoplasm... ORPHA:2126
Lipodystrophy, Familial Partial, Type 1
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Acute pancreatitis, Hypertriglyceride... OMIM:608600
Hyperinsulinism Due To Hnf1A Deficiency
Hepatomegaly, Small for gestational age, Ketotic hypoglycemia, Maternal diabetes, Large for gesta... ORPHA:324575
Mody
Elevated hemoglobin A1c, Large for gestational age, Overweight, Transient neonatal diabetes melli... ORPHA:552
Familial Partial Lipodystrophy, Köbberling Type
Hepatomegaly, Diabetes mellitus, Lipoatrophy, Insulin resistance, Hyperinsulinemia, Hepatic steat... ORPHA:79084
Short Stature Due To Ghsr Deficiency
Decreased serum insulin-like growth factor 1, Hypoglycemia, Abnormality of body weight, Delayed p... ORPHA:314811
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Nonketotic hypoglycemia, Large for gestational age, Increased circulating free fatty acid level, ... ORPHA:293964
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Elevated circulating thyroid-stimulating hormone concentration, Abnormal circulating insulin conc... ORPHA:171706
Congenital Generalized Lipodystrophy
Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, Diabetes mellitus, Precocious puberty in femal... ORPHA:528
Hyperinsulinemic Hypoglycemia, Familial, 2
Hypoglycemia, Large for gestational age, Nesidioblastosis, Pancreatic islet-cell hyperplasia, Hyp... OMIM:601820
Familial Apolipoprotein Gene Cluster Deletion Syndrome
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... OMIM:620058
Severe Neurodegenerative Syndrome With Lipodystrophy
Reduced subcutaneous adipose tissue, Hepatomegaly, Hypertriglyceridemia, Reduced intraabdominal a... ORPHA:363400
Lipodystrophy, Familial Partial, Type 2
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Acute pancreatitis, Decreased HDL cho... OMIM:151660
3-Methylglutaconic Aciduria Type 1
Hepatomegaly, Failure to thrive, Hypoglycemia ORPHA:67046
Hyperinsulinemic Hypoglycemia, Familial, 1
Hyperinsulinemic hypoglycemia, Pancreatic islet-cell hyperplasia, Hypoglycemic seizures, Large fo... OMIM:256450
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Hypersplenism, Hepatomegaly, Hypocholesterolemia, Splenomegaly OMIM:610539
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hepatomegaly, Excessive insulin response to glucagon test, Maternal diabetes, Large for gestation... ORPHA:276580
Morbid Obesity And Spermatogenic Failure
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Insulin resistance, Obesity, Incre... OMIM:615703
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Elevated hepatic transaminase, Hyperlipidemia, Hyperinsulinemia, Obesity, Hyperglycemia ORPHA:329249
Bile Acid Synthesis Defect, Congenital, 1
Elevated hepatic transaminase, Hepatomegaly, Giant cell hepatitis, Failure to thrive, Conjugated ... OMIM:607765
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hepatomegaly, Excessive insulin response to glucagon test, Large for gestational age, Hyperinsuli... ORPHA:276575
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemia, Hyperinsulinemia, Hypoglycemic seizures, Pancreatic islet-cell hyperplasia, Hyperin... OMIM:610021
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Hypoglycemia, Hyperlipidemia, Por... ORPHA:369
Congenital Glucokinase-Related Hyperinsulinism
Fasting hyperinsulinemia, Abnormal circulating C-peptide concentration, Recurrent hypoglycemia, T... ORPHA:79299
Lipase Deficiency, Combined
Type II diabetes mellitus, Hypertriglyceridemia, Lipodystrophy, Pancreatitis OMIM:246650
Mandibuloacral Dysplasia
Loss of subcutaneous adipose tissue in limbs, Alopecia, Hypertriglyceridemia, Lipoatrophy, Increa... ORPHA:2457
Proprotein Convertase 1/3 Deficiency
Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Reactive hypoglycemia, Obesi... OMIM:600955
Insulin Autoimmune Syndrome
Nonketotic hypoglycemia, Reactive hypoglycemia, Insulin-resistant diabetes mellitus, Insulin resi... ORPHA:411593
Galactokinase Deficiency
Hepatomegaly, Small for gestational age, Hypoglycemia, Hypergonadotropic hypogonadism, Hyperinsul... ORPHA:79237
Akt2-Related Familial Partial Lipodystrophy
Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, Decreased adiponectin level, Decreased serum l... ORPHA:79085
Lipe-Related Familial Partial Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, ... ORPHA:435660
Hyperinsulinemic Hypoglycemia, Familial, 6
Abnormality of the pancreatic islet cells, Hypoglycemic seizures, Asymptomatic hyperammonemia, Hy... OMIM:606762
Obesity
Increased waist to hip ratio, Obesity, Decreased resting energy expenditure OMIM:601665
Hyperinsulinism Due To Insr Deficiency
Hypoglycemia, Insulin resistance, Fasting hyperinsulinemia, Abnormal circulating C-peptide concen... ORPHA:263458
Acquired Generalized Lipodystrophy
Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Astrocytoma, Insulin resistance, Insulin-... ORPHA:79086
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Hypertriglyceridemia, Hypoglycemia ORPHA:366
Hyperinsulinemic Hypoglycemia, Familial, 5
Elevated circulating insulin:C-peptide ratio, Fasting hyperinsulinemia, Hypoglycemic seizures, Hy... OMIM:609968
Hyperinsulinemic Hypoglycemia, Familial, 8
Hypoglycemia, Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemia, H... OMIM:620211
Lipodystrophy, Familial Partial, Type 5
Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, Decreased adiponectin level, Decreased serum l... OMIM:615238
Cidec-Related Familial Partial Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, ... ORPHA:435651
Hyperinsulinemic Hypoglycemia, Familial, 3
Diabetes mellitus, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:602485
Hyperinsulinism Due To Ucp2 Deficiency
Hepatomegaly, Large for gestational age, Reactive hypoglycemia, Hypoglycemic seizures, Decreased ... ORPHA:276556
Chylomicron Retention Disease
Failure to thrive, Decreased LDL cholesterol concentration, Steatorrhea, Hypoalbuminemia, Hypocho... OMIM:246700
Peroxisome Biogenesis Disorder 3B
Hepatomegaly, Elevated circulating phytanic acid concentration, Steatorrhea, Failure to thrive, H... OMIM:266510
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis
Decreased HDL cholesterol concentration, Decreased LDL cholesterol concentration, Delayed puberty... OMIM:616834
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Reactive hypoglycemia, Hyperinsulinemia, Increased body weight, Pancreatic islet-cell hyperplasia... ORPHA:276608
Combined Oxidative Phosphorylation Deficiency 34
Hepatomegaly, Failure to thrive, Hypoglycemia, Hypergonadotropic hypogonadism, Elevated circulati... OMIM:617872
Mitochondrial Complex Iii Deficiency, Nuclear Type 3
Hepatomegaly, Elevated circulating alanine aminotransferase concentration, Hypoglycemia, Elevated... OMIM:615158
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1
Diabetes mellitus, Dorsocervical fat pad, Low anterior hairline, Delayed thelarche, Delayed puber... OMIM:616033
Squalene Synthase Deficiency
Failure to thrive in infancy, Increased circulating farnesol concentration, Elbow flexion contrac... OMIM:618156
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Hyperalaninemia, Hepatomegaly, Hypoglycemia, Elevated circulating aspartate aminotransferase conc... OMIM:619048
Homozygous 11P15-P14 Deletion Syndrome
Failure to thrive, Hypoglycemia, Hyperinsulinemia OMIM:606528
Polyendocrine-Polyneuropathy Syndrome
Alopecia, Hypogonadotropic hypogonadism, Hypoglycemia, Anterior pituitary hypoplasia, Decreased c... ORPHA:453533
Obesity Due To Sim1 Deficiency
Glucose intolerance, Hyperinsulinemia, Obesity, Increased resting energy expenditure ORPHA:369873
Glycogen Storage Disease Ixa1
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Splenomegaly, Hy... OMIM:306000
Potocki-Lupski Syndrome
Hypothyroidism, Failure to thrive, Small for gestational age, Hypocholesterolemia OMIM:610883
Insulin-Resistance Syndrome Type B
Fasting hyperinsulinemia, Increased body weight, Glucose intolerance, Hypoalbuminemia, Fasting hy... ORPHA:2298
Neonatal Hemochromatosis
Hypoglycemia, Congenital hepatic fibrosis, Increased circulating ferritin concentration, Increase... ORPHA:446
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
Donohue Syndrome
Precocious puberty, Adipose tissue loss, Hyperinsulinemia, Cholestasis, Hepatic fibrosis, Pancrea... OMIM:246200
Obesity And Hypopigmentation
Red hair, Hyperinsulinemia, Hepatic steatosis, Obesity OMIM:620195
Glycogen Storage Disease Iii
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Elevated circulating creatine kinase c... OMIM:232400
Mandibuloacral Dysplasia With Type A Lipodystrophy
Calcinosis, Hepatomegaly, Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adip... OMIM:248370
Chylomicron Retention Disease
Elevated hepatic transaminase, Hypertriglyceridemia, Steatorrhea, Hypocholesterolemia, Increased ... ORPHA:71
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Elevated circulating growth hormone concentration, Large for gestational age, Abnormal response t... ORPHA:79644
Mandibuloacral Dysplasia With Type B Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Alopecia, Decreased adipose tissue around neck, Bri... OMIM:608612
Congenital Disorder Of Glycosylation, Type Ia
Elevated hepatic transaminase, Hepatomegaly, Hypergonadotropic hypogonadism, Hypothyroidism, Abno... OMIM:212065
Perlman Syndrome
Hepatomegaly, Inguinal hernia, Femoral hernia, Hyperinsulinemia, Abnormal pancreas morphology, Ca... ORPHA:2849
Alg12-Cdg
Elevated hepatic transaminase, Hyponatremia, Decreased serum insulin-like growth factor 1, Low po... ORPHA:79324
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Elevated hepatic transaminase, Hepatomegaly, Large for gestational age, Abnormal circulating fatt... ORPHA:263455
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial
Impaired gluconeogenesis, Hepatic failure, Hepatic steatosis, Hypoglycemia OMIM:261650
Mitochondrial Complex Iii Deficiency, Nuclear Type 5
Elevated hepatic transaminase, Increased serum pyruvate, Small for gestational age, Hypoglycemia,... OMIM:615160
Insulinoma
Nonketotic hypoglycemia, Reactive hypoglycemia, Abnormality of the pancreatic islet cells, Fastin... ORPHA:97279
Maternal Uniparental Disomy Of Chromosome 4
Abetalipoproteinemia, Elevated circulating creatine kinase concentration, Diabetes insipidus, Dec... ORPHA:96180
Lipodystrophy, Congenital Generalized, Type 4
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, Elevated circul... OMIM:613327
Hypobetalipoproteinemia, Familial, 1
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Elevated circulating aspartate ami... OMIM:615558
Obesity Due To Congenital Leptin Deficiency
Hypertriglyceridemia, Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant d... ORPHA:66628
Glycogen Storage Disease Ixc
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Splenomegaly, Bi... OMIM:613027
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Small for gestational age, Hypoglycemia, Precocious puberty, Insulin-resistant diabetes mellitus,... OMIM:262190
Obesity Due To Leptin Receptor Gene Deficiency
Hypertriglyceridemia, Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant d... ORPHA:179494
Retinitis Pigmentosa
Hyperinsulinemia, Obesity, Atypical scarring of skin, Hypogonadism, Type II diabetes mellitus ORPHA:791
Lipodystrophy, Congenital Generalized, Type 1
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Lipodystro... OMIM:608594
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Increased urinary cortisol level, Alopecia, Dorsocervical fat pad, Paradoxical increased cortisol... ORPHA:189427
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Acute hepatic failure, Elevated hepatic transaminase, Abnormal circulating acylcarnitine concentr... ORPHA:71212
Pyruvate Dehydrogenase E3 Deficiency
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Elevated circulating branched cha... ORPHA:2394
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Hypergonadotropic hypogonadism, Hyperinsulinemia, Obesity, Type II diabetes mellitus, Keloids ORPHA:3085
Hemochromatosis, Neonatal
Hypoglycemia, Increased circulating ferritin concentration, Cholestasis, Hepatocellular necrosis,... OMIM:231100
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Elevated circulating creatine kinase c... ORPHA:42
Lipodystrophy, Congenital Generalized, Type 2
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Lipodystro... OMIM:269700
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal
Sparse eyebrow, Hepatomegaly, Brittle hair, Hypocholesterolemia OMIM:618810
Hyperinsulinism-Hyperammonemia Syndrome
Hyperinsulinemic hypoglycemia, Fasting hyperinsulinemia, Reactive hypoglycemia, Asymptomatic hype... ORPHA:35878
Mpi-Cdg
Hepatomegaly, Portal hypertension, Hypoalbuminemia, Hepatic fibrosis, Decreased liver function, H... ORPHA:79319
Multiple Endocrine Neoplasia Type 4
Hyperparathyroidism, Pituitary corticotropic cell adenoma, Angiofibromas, Fasting hyperinsulinemi... ORPHA:276152
Glycogen Storage Disease Ixb
Hepatomegaly, Hypoglycemia, Splenomegaly, Hyperuricemia, Increased hepatic glycogen content OMIM:261750
Abetalipoproteinemia
Elevated hepatic transaminase, Hepatomegaly, Decreased HDL cholesterol concentration, Failure to ... ORPHA:14
Low Phospholipid-Associated Cholelithiasis
Elevated hepatic transaminase, Liver abscess, Hypercholesterolemia, Cholangitis, Diabetes mellitu... ORPHA:69663
Fanconi-Bickel Syndrome
Hepatomegaly, Failure to thrive, Hypertriglyceridemia, Diabetes mellitus, Elevated circulating as... ORPHA:2088
Alstrom Syndrome
Elevated hepatic transaminase, Hepatomegaly, Decreased HDL cholesterol concentration, Chronic act... OMIM:203800
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Hyponatremia, Decreased circulating cortisol level, Hypoglycemia, Precocious puberty, Hyperkalemi... OMIM:614736
Congenital Disorder Of Glycosylation, Type Ib
Hepatomegaly, Failure to thrive, Hepatic fibrosis, Hypoalbuminemia, Cirrhosis, Steatorrhea, Hyper... OMIM:602579
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Elevated circula... ORPHA:264580
Pancreatic Lipase Deficiency
Hypocholesterolemia, Steatorrhea OMIM:614338
Hyperproinsulinemia
Hyperglycemia, Hyperinsulinemia OMIM:616214
Propionic Acidemia
Hepatomegaly, Hypoglycemia, Hyperammonemia ORPHA:35
Tenorio Syndrome
Hypoglycemia, Hypoinsulinemia, Thick eyebrow, Hypertrichosis OMIM:616260
Bdv Syndrome
Decreased thyroid-stimulating hormone level, Hypogonadotropic hypogonadism, Hyperinsulinemia, Obe... OMIM:619326
Carnitine Palmitoyl Transferase 1A Deficiency
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Transient hyperlipidemia, Hepatic failure ORPHA:156
Vipoma
Hepatomegaly, Follicular thyroid carcinoma, Intermittent jaundice, Neoplasm of the liver, Hypokal... ORPHA:97282
Cholestasis, Progressive Familial Intrahepatic, 5
Failure to thrive, Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, E... OMIM:617049
Body Mass Index Quantitative Trait Locus 20
Hyperinsulinemia, Obesity OMIM:618406
Multiple Endocrine Neoplasia, Type I
Hypoglycemia, Hypercalcemia, Pancreatic islet cell adenoma, Elevated circulating growth hormone c... OMIM:131100
Somatostatinoma
Hepatomegaly, Intermittent jaundice, Increased circulating cortisol level, Adrenocortical adenoma... ORPHA:97283
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Hepatomegaly, Hypoglycemia, Elevated circulating alanine aminotransferase concentration, Low plas... OMIM:261680
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Hypoglycemia, Portal hypertension... OMIM:251880
Leprechaunism
Reduced subcutaneous adipose tissue, Hepatomegaly, Enlarged ovaries, Facial hypertrichosis, Insul... ORPHA:508
Type 2 Diabetes Mellitus
Type II diabetes mellitus, Insulin resistance, Increased waist to hip ratio OMIM:125853
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Hypoglycemia, Cholestatic liver disease, Failure to thrive, Hypoketotic hypoglycemia ORPHA:5
Atypical Werner Syndrome
Abnormal hair whorl, Fasting hyperinsulinemia, Premature graying of hair, Neoplasm of the breast,... ORPHA:79474
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Small for gestational age, Elevated circulating crea... ORPHA:26793
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Small for gestational age, Elevated circulating aspartate aminotransferase concentration, Hypogly... OMIM:617093
Dysbetalipoproteinemia
Hepatomegaly, Acute pancreatitis, Decreased HDL cholesterol concentration, Hypertriglyceridemia, ... ORPHA:412
Bangstad Syndrome
Abnormality of the parathyroid gland, Hyperinsulinemia, Increased circulating cortisol level, Pri... ORPHA:1227
Citrullinemia, Type Ii, Neonatal-Onset
Hypertyrosinemia, Decreased HDL cholesterol concentration, Failure to thrive, Hypertriglyceridemi... OMIM:605814
Glucocorticoid Resistance, Generalized
Hypoglycemia, Increased circulating ACTH level, Increased circulating cortisol level, Increased s... OMIM:615962
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Elevated hepatic transaminase, Hepatomegaly, Diabetes mellitus, Hypouricemia, Hypoglycemia, Large... OMIM:616026
Rabson-Mendenhall Syndrome
Fasting hyperinsulinemia, Low anterior hairline, Premature graying of hair, Fasting hypoglycemia,... ORPHA:769
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Hyponatremia, Endometrial carcinoma, Decreased circulating cortisol level, Adrenal hyperplasia, H... ORPHA:90790
Ornithine Transcarbamylase Deficiency
Splenomegaly, Hepatic failure, Hypoglycemia, Hyperammonemia ORPHA:664
Secondary Intestinal Lymphangiectasia
B-cell lymphoma, Reduced circulating transferrin concentration, Chylous ascites, Lymphoma, Hypoal... ORPHA:90363
Congenital Disorder Of Glycosylation, Type Im
Alopecia, Sparse eyelashes, Increased circulating free fatty acid level, Sparse eyebrow, Failure ... OMIM:610768
Abdominal Obesity-Metabolic Syndrome 3
Hypertriglyceridemia, Increased LDL cholesterol concentration, Truncal obesity, Abdominal obesity... OMIM:615812
Pancreatic And Cerebellar Agenesis
Reduced subcutaneous adipose tissue, Diabetes mellitus, Hypoglycemia, Flexion contracture, Pancre... OMIM:609069
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Acute hepatic failure, Hepatomegaly, Failure to thrive, Hypoglycemia, Elevated circulating aspart... OMIM:256810
Late-Onset Isolated Acth Deficiency
Hyponatremia, Hypoparathyroidism, Decreased circulating cortisol level, Hypoglycemia, Hypercalcem... ORPHA:199299
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Accessory spleen, Hepatomegaly, Hypertriglyceridemia, Failure to thrive in infancy, Hypoglycemia,... OMIM:619418
Kaufman Oculocerebrofacial Syndrome
Sparse hair, Failure to thrive, Sparse eyebrow, Hypocholesterolemia OMIM:244450
Dubowitz Syndrome
Sparse scalp hair, Inguinal hernia, Lymphoma, Acute lymphoblastic leukemia, Hypocholesterolemia, ... OMIM:223370
Estrogen Resistance Syndrome
Abnormality of the pubic hair, Enlarged polycystic ovaries, Increased circulating gonadotropin le... ORPHA:785
Estrogen Resistance
Increased circulating osteocalcin level, Impaired glucose tolerance, Hyperinsulinemia, Increased ... OMIM:615363
Combined Oxidative Phosphorylation Deficiency 41
Decreased circulating cortisol level, Hypoglycemia, Elevated circulating creatine kinase concentr... OMIM:618838
Lipodystrophy, Familial Partial, Type 7
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Sparse scalp h... OMIM:606721
Glycogen Storage Disease Ia
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Hyperlipidemia, Delayed puberty, Xanth... OMIM:232200
Tangier Disease
Hypertriglyceridemia, Hepatosplenomegaly, Nail dystrophy, Hypocholesterolemia, Left ventricular h... ORPHA:31150
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Elevated hepatic transaminase, Hypertyrosinemia, Failure to thrive, Hypoglycemia, Conjugated hype... OMIM:617156
Smith-Lemli-Opitz Syndrome
Hepatomegaly, Facial capillary hemangioma, Precocious puberty, Splenomegaly, Cholestatic liver di... OMIM:270400
Glycogen Storage Disease Ib
Elevated hepatic transaminase, Hepatomegaly, Pancreatic fibrosis, Hypoglycemia, Splenomegaly, Hyp... OMIM:232220
Pituitary Hormone Deficiency, Combined, 6
Decreased thyroid-stimulating hormone level, Ectopic posterior pituitary, Hypoglycemia, Decreased... OMIM:613986
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Limb joint contracture, Small for... ORPHA:404454
Addison Disease
Decreased circulating cortisol level, Adrenal calcification, Adrenal hypoplasia, Increased circul... ORPHA:85138
X-Linked Acrogigantism
Decreased thyroid-stimulating hormone level, Increased body mass index, Enlarged pituitary gland,... ORPHA:300373
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Ectopic posterior pituitary, Decreased response to growth hormone stimulation test, Reduced circu... ORPHA:226307
Tyrosinemia, Type I
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Hypertyrosinemia, Failure to ... OMIM:276700
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hepatomegaly, Failure to thrive, Hypertriglyceridemia, Hypoglycemia, Hypothyroidism, Hyperlipidem... ORPHA:79259
Perlman Syndrome
Hypoglycemia, Renal hamartoma, Congenital diaphragmatic hernia, Large for gestational age, Nephro... OMIM:267000
Short Fifth Metacarpals-Insulin Resistance Syndrome
Splenomegaly, Hyperinsulinemia ORPHA:66518
Glycerol Kinase Deficiency
Adrenocortical hypoplasia, Hypertriglyceridemia, Small for gestational age, Hypoglycemia, Hypergl... OMIM:307030
Beckwith-Wiedemann Syndrome
Congenital diaphragmatic hernia, Large for gestational age, Cardiomegaly, Neonatal hypoglycemia, ... ORPHA:116
Glycogen Storage Disease Ic
Hepatomegaly, Hypoglycemia, Chronic pancreatitis, Hyperlipidemia, Xanthelasma, Hyperuricemia, Hep... OMIM:232240
Fructose Intolerance, Hereditary
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Jaundice, Bicarbonaturia, Hypophosphat... OMIM:229600
Liver Disease, Severe Congenital
Dry hair, Cardiomegaly, Biliary hyperplasia, Hypocalcemia, Elevated hepatic iron concentration, P... OMIM:619991
Prader-Willi Syndrome
Hypopigmentation of hair, Failure to thrive in infancy, Hypogonadotropic hypogonadism, Decreased ... OMIM:176270
Woodhouse-Sakati Syndrome
Alopecia, Streak ovary, Decreased response to growth hormone stimulation test, Insulin-resistant ... ORPHA:3464
Dopamine Beta-Hydroxylase Deficiency
Hypoglycemia, Insulin resistance, Hyperinsulinemia, Elevated circulating creatinine concentration... ORPHA:230
Generalized Glucocorticoid Resistance Syndrome
Increased urinary cortisol level, Adrenal hyperplasia, Hypoglycemia, Frontal balding, Precocious ... ORPHA:786
Steinert Myotonic Dystrophy
Brain neoplasm, Decreased response to growth hormone stimulation test, Non-medullary thyroid carc... ORPHA:273
Turner Syndrome Due To Structural X Chromosome Anomalies
Glucose intolerance, Hepatic fibrosis, Hepatic steatosis, Hashimoto thyroiditis, Alopecia, Biliar... ORPHA:99413
Turner Syndrome
Glucose intolerance, Hepatic fibrosis, Hepatic steatosis, Hashimoto thyroiditis, Alopecia, Biliar... ORPHA:881
Mosaic Monosomy X
Glucose intolerance, Hepatic fibrosis, Hepatic steatosis, Hashimoto thyroiditis, Alopecia, Biliar... ORPHA:99228
Monosomy X
Glucose intolerance, Hepatic fibrosis, Hepatic steatosis, Hashimoto thyroiditis, Alopecia, Biliar... ORPHA:99226
Alström Syndrome
Decreased response to growth hormone stimulation test, Elevated circulating thyroid-stimulating h... ORPHA:64
Atelis Syndrome 2
Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemia OMIM:620185
Pmm2-Cdg
Elevated hepatic transaminase, Multiple joint contractures, Lipodystrophy, Hypogonadotropic hypog... 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

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
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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