Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
forkhead box O6
Synonyms:
N/A

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 Foxo6 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 Foxo6 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Hypoglycemia, Large for gestational age, Obesity, Fasting hypoglycemia, Truncal obesity, Hypoinsu... OMIM:240900
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Abnormal circulating insulin concentration, Hypoketotic hypoglycemia, Large for gestational age, ... ORPHA:293964
Glycogen Storage Disease Vi
Elevated circulating hepatic transaminase concentration, Hypoglycemia, Failure to thrive in infan... OMIM:232700
Transient Neonatal Diabetes Mellitus
Maturity-onset diabetes of the young, Failure to thrive, Umbilical hernia, Hyperglycemia, Transie... ORPHA:99886
Mody
Abnormal circulating insulin concentration, Abnormal oral glucose tolerance, Pancreatic hypoplasi... ORPHA:552
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Abnormal circulating insulin concentration, Abnormal circulating selenium concentration, Elevated... ORPHA:171706
Short Stature Due To Ghsr Deficiency
Hypoglycemia, Abnormality of body weight, Decreased body weight, Decreased serum insulin-like gro... ORPHA:314811
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Decreased 3-hydroxyacyl-CoA dehydrogenase level, Hypoglycemia OMIM:609016
Isolated Growth Hormone Deficiency, Type Ia
Prolonged neonatal jaundice, Decreased serum insulin-like growth factor 1, Hypoglycemia, Reduced ... OMIM:262400
Hyperinsulinemic Hypoglycemia, Familial, 2
Nesidioblastosis, Hypoglycemia, Large for gestational age, Pancreatic islet-cell hyperplasia, Hyp... OMIM:601820
Short Stature Due To Partial Ghr Deficiency
Decreased serum insulin-like growth factor 1, Delayed puberty, Hypoglycemia ORPHA:314802
Hyperinsulinism Due To Hnf1A Deficiency
Hypoglycemic seizures, Small for gestational age, Maturity-onset diabetes of the young, Hyperinsu... ORPHA:324575
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial
Hepatic failure, Impaired gluconeogenesis, Hepatic steatosis, Hypoglycemia OMIM:261650
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemia, Hyperinsulinemia, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia,... OMIM:610021
Hyperinsulinism Due To Insr Deficiency
Insulin resistance, Hypoglycemia, Fasting hyperinsulinemia, Recurrent hypoglycemia, Abnormal circ... ORPHA:263458
Mitochondrial Complex Iii Deficiency, Nuclear Type 3
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... OMIM:615158
Proprotein Convertase 1/3 Deficiency
Elevated circulating proinsulin concentration, Obesity, Reactive hypoglycemia, Decreased circulat... OMIM:600955
3-Methylglutaconic Aciduria Type 1
Hepatomegaly, Failure to thrive, Hypoglycemia ORPHA:67046
Obesity Due To Melanocortin 4 Receptor Deficiency
Hyperinsulinemia, Obesity, Type II diabetes mellitus, Polyphagia, Childhood-onset truncal obesity... ORPHA:71529
Insulin Autoimmune Syndrome
Insulin resistance, Insulin-resistant diabetes mellitus, Reactive hypoglycemia, Increased circula... ORPHA:411593
Neonatal Hemochromatosis
Increased circulating iron concentration, Hypoglycemia, Increased circulating ferritin concentrat... ORPHA:446
Familial Apolipoprotein Gene Cluster Deletion Syndrome
Hypocholesterolemia, Hypotriglyceridemia, Decreased circulating apolipoprotein A-I concentration,... OMIM:620058
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Diffuse pancreatic islet hyperplasia, Type I diabetes mellitus, Hypoglycemic seizures, Hyperinsul... ORPHA:276580
Diarrhea 13
Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Failure to thrive, Recu... OMIM:620357
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Diffuse pancreatic islet hyperplasia, Type I diabetes mellitus, Hypoglycemic seizures, Hyperinsul... ORPHA:276575
Hyperinsulinemic Hypoglycemia, Familial, 8
Elevated circulating thyroid-stimulating hormone concentration, Hypoglycemia, Hyperinsulinemia, H... OMIM:620211
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Hypoglycemia, Hypertriglyceridemia ORPHA:366
Glycogen Storage Disease Ixa1
Elevated circulating hepatic transaminase concentration, Hypoglycemia, Splenomegaly, Hyperuricemi... OMIM:306000
Combined Oxidative Phosphorylation Deficiency 34
Hepatic failure, Failure to thrive, Hypoglycemia, Elevated circulating thyroid-stimulating hormon... OMIM:617872
Bile Acid Synthesis Defect, Congenital, 1
Intrahepatic cholestasis, Hepatic failure, Elevated circulating hepatic transaminase concentratio... OMIM:607765
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Hypocholesterolemia, Hypersplenism, Splenomegaly, Anemia, Thrombocytopenia, Hepatomegaly OMIM:610539
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Portal fibrosis, Failu... ORPHA:369
Coronary Artery Disease, Autosomal Dominant 2
Increased LDL cholesterol concentration, Glucose intolerance, Type II diabetes mellitus, Hypertri... OMIM:610947
Obesity Due To Prohormone Convertase I Deficiency
Failure to thrive, Cholestasis, Decreased response to growth hormone stimulation test, Hyperinsul... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Failure to thrive, Cholestasis, Decreased response to growth hormone stimulation test, Hyperinsul... ORPHA:71526
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency
Hypoglycemia ORPHA:35701
Hyperinsulinism Due To Ucp2 Deficiency
Diffuse pancreatic islet hyperplasia, Hypoglycemic seizures, Recurrent hypoglycemia, Hypoketotic ... ORPHA:276556
Lipodystrophy, Congenital Generalized, Type 3
Insulin resistance, Generalized lipodystrophy, Hepatosplenomegaly, Hypocalcemia, Hepatic steatosi... OMIM:612526
Polyendocrine-Polyneuropathy Syndrome
Central hypothyroidism, Hypoglycemia, Decreased serum testosterone concentration, Type II diabete... ORPHA:453533
Mitochondrial Complex Iii Deficiency, Nuclear Type 5
Elevated circulating hepatic transaminase concentration, Elevated circulating sebacic acid concen... OMIM:615160
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Hepatic failure, Increased hepatic echogenicity, Hypoglycemia, Cyanosis, Hepatic steatosis, Low p... OMIM:261680
Hemochromatosis, Neonatal
Hepatic fibrosis, Hepatic failure, Increased circulating iron concentration, Hypoglycemia, Increa... OMIM:231100
Plin1-Related Familial Partial Lipodystrophy
Hepatic fibrosis, Hyperinsulinemia, Hepatic steatosis, Reduced subcutaneous adipose tissue, Loss ... ORPHA:280356
Propionic Acidemia
Hepatomegaly, Propionyl-CoA carboxylase deficiency, Hyperammonemia, Hypoglycemia ORPHA:35
Solitary Fibrous Tumor
Hypoglycemia, Recurrent hypoglycemia, Hypophosphatemic rickets, Neoplasm of the liver, Weight los... ORPHA:2126
Galactokinase Deficiency
Small for gestational age, Failure to thrive, Hypoglycemia, Hepatosplenomegaly, Abnormal circulat... ORPHA:79237
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Failure to thrive, Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, D... OMIM:619048
Glycogen Storage Disease Iii
Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Hypoglycemia, Hyperlip... OMIM:232400
Glycogen Storage Disease Ixb
Hypoglycemia, Splenomegaly, Hyperuricemia, Increased hepatic glycogen content, Hepatomegaly, Redu... OMIM:261750
Combined Oxidative Phosphorylation Deficiency 52
Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, Adrenal insufficienc... OMIM:619386
Lipodystrophy, Familial Partial, Type 3
Insulin resistance, Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Type II... OMIM:604367
Glycogen Storage Disease Ixc
Elevated circulating hepatic transaminase concentration, Hypoglycemia, Splenomegaly, Increased he... OMIM:613027
Potocki-Lupski Syndrome
Failure to thrive, Oral-pharyngeal dysphagia, Hypocholesterolemia, Hypothyroidism, Hyperactivity,... OMIM:610883
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Hyperinsulinemia, Hypoketotic hypoglycemia, Reactive hypoglycemia, Pancreatic islet-cell hyperpla... ORPHA:276608
Hemochromatosis, Type 4
Increased circulating ferritin concentration, Glucose intolerance, Hepatic steatosis, Anemia, Cir... OMIM:606069
Combined Oxidative Phosphorylation Deficiency 36
Failure to thrive, Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, H... OMIM:617950
X-Linked Sideroblastic Anemia
Elevated circulating hepatic transaminase concentration, Glucose intolerance, Splenomegaly, Anemi... ORPHA:75563
Hyperinsulinism-Hyperammonemia Syndrome
Asymptomatic hyperammonemia, Fasting hyperinsulinemia, Reactive hypoglycemia, Attention deficit h... ORPHA:35878
Hypertriglyceridemia 1
Hypopituitarism, Glucose intolerance, Hypertriglyceridemia, Increased VLDL cholesterol concentration OMIM:145750
Dihydrolipoamide Dehydrogenase Deficiency
Elevated circulating hepatic transaminase concentration, Hypoglycemia, Decreased liver function, ... OMIM:246900
Alg12-Cdg
Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Failure to thrive, Recu... ORPHA:79324
Homozygous 11P15-P14 Deletion Syndrome
Hyperinsulinemia, Failure to thrive, Hypoglycemia OMIM:606528
Obesity And Hypopigmentation
Polyphagia, Hyperinsulinemia, Obesity, Hepatic steatosis OMIM:620195
3-Methylglutaconic Aciduria Type 4
Hypoglycemia, Thrombocytopenia, Failure to thrive, Decreased liver function ORPHA:67048
Blue Diaper Syndrome
Increased proinsulin:insulin ratio, Elevated circulating hepatic transaminase concentration, Hype... ORPHA:94086
Obesity Due To Congenital Leptin Deficiency
Decreased serum estradiol, Insulin-resistant diabetes mellitus, Absence of secondary sex characte... ORPHA:66628
Hypobetalipoproteinemia, Familial, 1
Decreased HDL cholesterol concentration, Elevated circulating aspartate aminotransferase concentr... OMIM:615558
Obesity Due To Sim1 Deficiency
Hyperinsulinemia, Glucose intolerance, Obesity, Polyphagia, Attention deficit hyperactivity disorder ORPHA:369873
Pyruvate Dehydrogenase E3 Deficiency
Elevated circulating branched chain amino acid concentration, Hepatic failure, Elevated circulati... ORPHA:2394
Chylomicron Retention Disease
Hypoalbuminemia, Hypotriglyceridemia, Failure to thrive, Hypocholesterolemia, Decreased LDL chole... OMIM:246700
Cholesteryl Ester Storage Disease
Hepatic bridging fibrosis, Elevated gamma-glutamyltransferase level, Acute hepatic failure, Adren... OMIM:278000
Hypogonadism, Male, With Impaired Intellectual Development And Skeletal Anomalies
Hyperglycemia, Male hypogonadism, Glucose intolerance, Hypergonadotropic hypogonadism OMIM:307500
Body Mass Index Quantitative Trait Locus 19
Insulin resistance, Increased serum leptin, Hyperinsulinemia, Obesity, Hyperlipidemia, Polyphagia... OMIM:617885
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Elevated circulating hepatic transaminase concentration, Glycosuria, Hyperinsulinemia, Hypophosph... ORPHA:263455
Obesity Due To Leptin Receptor Gene Deficiency
Decreased serum estradiol, Insulin-resistant diabetes mellitus, Absence of secondary sex characte... ORPHA:179494
Combined Oxidative Phosphorylation Deficiency 47
Elevated circulating hepatic transaminase concentration, Failure to thrive, Hypoglycemia, Hepatom... OMIM:618958
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis
Failure to thrive, Hypocholesterolemia, Decreased LDL cholesterol concentration, Delayed puberty,... OMIM:616834
Ornithine Transcarbamylase Deficiency
Splenomegaly, Hepatic failure, Hyperammonemia, Hypoglycemia ORPHA:664
Low Phospholipid-Associated Cholelithiasis
Intrahepatic cholestasis, Cholelithiasis, Elevated circulating hepatic transaminase concentration... ORPHA:69663
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Diffuse pancreatic islet hyperplasia, Increased circulating cortisol level, Recurrent hypoglycemi... ORPHA:79644
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Postprandial hyperglycemia, Elevated circulating hepatic transaminase concentration, Glycosuria, ... ORPHA:2089
Maternal Uniparental Disomy Of Chromosome 4
Type I diabetes mellitus, Hypocholesterolemia, Abnormal erythrocyte morphology, Acanthocytosis, A... ORPHA:96180
3-Methylcrotonyl-Coa Carboxylase Deficiency
Failure to thrive in infancy, Hypoglycemia, Hyperammonemia, Abnormal circulating leucine concentr... ORPHA:6
Combined Malonic And Methylmalonic Acidemia
Elevated circulating hepatic transaminase concentration, Failure to thrive, Hypoglycemia, Dicarbo... ORPHA:289504
Cholestasis, Progressive Familial Intrahepatic, 5
Hepatic failure, Failure to thrive, Hypoglycemia, Elevated circulating aspartate aminotransferase... OMIM:617049
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Elevated circulating hepatic transaminase concentration, Increased circulating lactate dehydrogen... OMIM:600649
Congenital Disorder Of Glycosylation, Type Il
Hypoalbuminemia, Failure to thrive, Hypocholesterolemia, Splenomegaly, Lipodystrophy, Hepatomegaly OMIM:608776
Chylomicron Retention Disease
Elevated circulating hepatic transaminase concentration, Failure to thrive, Hypocholesterolemia, ... ORPHA:71
Congenital Disorder Of Glycosylation, Type Iiaa
Hepatic fibrosis, Hepatic failure, Nodular regenerative hyperplasia of liver, Biliary cirrhosis, ... OMIM:620454
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Hypoalbuminemia, Elevated gamma-glutamyltransferase level, Intrahepatic cholestasis, Hepatic fibr... OMIM:617093
Insulin-Resistance Syndrome Type B
Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Type II diabetes mellitus, ... ORPHA:2298
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Elevated circulating hepatic transaminase concentration, Decreased liver function, Hypoglycemia, ... ORPHA:42
Peroxisome Biogenesis Disorder 3B
Failure to thrive, Elevated circulating phytanic acid concentration, Hypocholesterolemia, Hepatom... OMIM:266510
Squalene Synthase Deficiency
Polymicrogyria, Failure to thrive in infancy, Hypocholesterolemia, Elbow flexion contracture, Kne... OMIM:618156
Congenital Disorder Of Glycosylation, Type Ia
Hypoalbuminemia, Hepatic fibrosis, Decreased circulating IgG level, Elevated circulating hepatic ... OMIM:212065
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency
Increased circulating free fatty acid level, Elevated circulating hepatic transaminase concentrat... OMIM:605911
Fanconi-Bickel Syndrome
Postprandial hyperglycemia, Hepatic failure, Glycosuria, Failure to thrive, Elevated circulating ... ORPHA:2088
Acth Deficiency, Isolated
Cholestasis, Decreased circulating cortisol level, Adrenocorticotropic hormone deficiency, Adrena... OMIM:201400
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Hypouricemia, Elevated circulating hepatic transaminase concentration, Glycosuria, Hypoglycemia, ... OMIM:616026
Carnitine Palmitoyl Transferase 1A Deficiency
Hepatic failure, Elevated circulating hepatic transaminase concentration, Hypoglycemia, Transient... ORPHA:156
Infantile Liver Failure Syndrome 2
Elevated circulating hepatic transaminase concentration, Hypoglycemia, Acute hepatic failure, Hyp... OMIM:616483
Pyruvate Carboxylase Deficiency
Hepatomegaly, Increased serum pyruvate, Hyperalaninemia, Hypoglycemia OMIM:266150
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Postprandial hyperglycemia, Precocious puberty, Insulin-resistant diabetes mellitus, Hypoglycemia... OMIM:262190
Lipodystrophy, Familial Partial, Type 2
Insulin-resistant diabetes mellitus, Increased adipose tissue around the neck, Increased facial a... OMIM:151660
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency
Hypoglycemia, Hyperlipidemia, Hyperuricemia ORPHA:364
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Portal fibrosis, Failu... ORPHA:264580
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Increased circulating free fatty acid level, Elevated circulating hepatic transaminase concentrat... ORPHA:71212
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of
Elevated circulating hepatic transaminase concentration, Decreased circulating carnitine concentr... OMIM:201450
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Precocious puberty, Failure to thrive, Hypoglycemia, Abnormal circulating aldosterone, Increased ... OMIM:614736
Mandibuloacral Dysplasia
Insulin resistance, Increased circulating free fatty acid level, Increased subcutaneous truncal a... ORPHA:2457
Hypoadrenocorticism, Familial
Hypoglycemia, Adrenal insufficiency, Cyanosis, Hyponatremia, Adrenal hypoplasia, Hyperkalemia OMIM:240200
Congenital Isolated Acth Deficiency
Hypoglycemic seizures, Adrenocorticotropin deficient adrenal insufficiency, Hepatitis, Hyponatrem... ORPHA:199296
Mitochondrial Complex Iii Deficiency, Nuclear Type 11
Pancreatitis, Hyperammonemia, Hypoglycemia OMIM:620137
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hypoalbuminemia, Depletion of mitochondrial DNA in liver, Hepatic failure, Elevated circulating h... OMIM:251880
Hemochromatosis, Type 1
Increased circulating iron concentration, Elevated circulating hepatic transaminase concentration... OMIM:235200
Glucocorticoid Deficiency 3
Recurrent hypoglycemia, Increased circulating ACTH level, Abnormal circulating renin, Decreased c... OMIM:609197
Carnitine-Acylcarnitine Translocase Deficiency
Reduced tissue carnitine-acylcarnitine translocase activity, Elevated circulating hepatic transam... OMIM:212138
Citrullinemia, Type Ii, Neonatal-Onset
Elevated gamma-glutamyltransferase level, Hyperbilirubinemia, Hyperthreoninemia, Elevated circula... OMIM:605814
Long-Olsen-Distelmaier Syndrome
Failure to thrive, Hypoglycemia, Polymicrogyria, Elevated circulating aspartate aminotransferase ... OMIM:620609
Abetalipoproteinemia
Hypoalbuminemia, Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Hypot... ORPHA:14
Immunodeficiency 10
Decreased circulating IgG level, Hypoglycemia, Decreased circulating IgA level, Splenomegaly, Aut... OMIM:612783
Pancreatic Lipase Deficiency
Steatorrhea, Hypocholesterolemia OMIM:614338
Tenorio Syndrome
Hypoinsulinemia, Hypoglycemia OMIM:616260
Pituitary Hormone Deficiency, Combined, 2
Abnormal circulating adrenocorticotropin concentration, Hypogonadism, Panhypopituitarism, Adrenal... OMIM:262600
Propionic Acidemia
Failure to thrive, Hypoglycemia, Pancytopenia, Propionyl-CoA carboxylase deficiency, Hyperglycine... OMIM:606054
Pituitary Hormone Deficiency, Combined, 6
Ectopic posterior pituitary, Hypoglycemia, Decreased circulating ACTH concentration, Hyperbilirub... OMIM:613986
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency
Acute hepatic steatosis, Failure to thrive, Hypoglycemia, Reduced 3-methylcrotonyl CoA carboxylas... OMIM:210200
Methylmalonic Aciduria, Cblb Type
Decreased methylmalonyl-CoA mutase activity, Hypoglycemia, Elevated circulating propionylcarnitin... OMIM:251110
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Hypoalbuminemia, Hypermethioninemia, Hepatic failure, Elevated circulating hepatic transaminase c... OMIM:617156
Seckel Syndrome 10
Insulin resistance, Elevated circulating luteinizing hormone level, Glycosuria, Elevated circulat... OMIM:617253
Hereditary Chronic Pancreatitis
Abnormal circulating enzyme concentration or activity, Leukocytosis, Pancreatic calcification, Re... ORPHA:676
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Cholestatic liver disease, Failure to thrive, Hypoglycemia, Hypoketotic hypoglycemia, Hepatomegaly ORPHA:5
Mitochondrial Complex Iii Deficiency, Nuclear Type 6
Elevated circulating hepatic transaminase concentration, Failure to thrive, Hypoglycemia, Acute h... OMIM:615453
Fanconi-Bickel Syndrome
Hypouricemia, Elevated gamma-glutamyltransferase level, Intrahepatic cholestasis, Postprandial hy... OMIM:227810
Late-Onset Isolated Acth Deficiency
Normocytic anemia, Type I diabetes mellitus, Pituitary adenoma, Hepatitis, Hypoglycemia, Failure ... ORPHA:199299
Estrogen Resistance
Hyperinsulinemia, Glucose intolerance, Increased serum estradiol, Increased circulating osteocalc... OMIM:615363
Glucocorticoid Resistance, Generalized
Increased circulating cortisol level, Hypoglycemia, Increased circulating ACTH level, Increased c... OMIM:615962
Maple Syrup Urine Disease, Type Ia
Elevated circulating branched chain amino acid concentration, Hypoglycemia, Elevated circulating ... OMIM:248600
Combined Oxidative Phosphorylation Deficiency 40
Hypoglycemia, Decreased liver function, Elevated circulating creatine kinase concentration, Decre... OMIM:618835
Combined Oxidative Phosphorylation Deficiency 42
Hypoglycemia, Decreased liver function, Elevated circulating creatine kinase concentration, Decre... OMIM:618839
Fructose-1,6-Bisphosphatase Deficiency
Neonatal hyperbilirubinemia, Elevated circulating hepatic transaminase concentration, Hypoglycemi... ORPHA:348
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal
Hepatomegaly, Hypocholesterolemia OMIM:618810
Secondary Intestinal Lymphangiectasia
Hypoalbuminemia, Secondary hyperaldosteronism, Reduced circulating transferrin concentration, Dec... ORPHA:90363
Combined Oxidative Phosphorylation Deficiency 41
Anemia, Decreased circulating cortisol level, Hypoglycemia, Elevated circulating creatine kinase ... OMIM:618838
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Failure to thrive, Hypoglycemia, Leukopenia, Hyperglycinemia, Hyperammonemia, Pancreatitis, Neutr... OMIM:251000
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency
Elevated circulating 21-deoxycortisol concentration, Adrenogenital syndrome, Adrenal hyperplasia,... OMIM:201910
Beta-Ketothiolase Deficiency
Hypoglycemia, Anorexia, Hyperglycemia, Leukocytosis, Hyperammonemia, Hyperuricemia, Oral aversion... ORPHA:134
Glutaric Acidemia I
Elevated circulating glutaric acid concentration, Failure to thrive, Hypoglycemia, Hepatomegaly, ... OMIM:231670
Mitochondrial Complex I Deficiency, Nuclear Type 20
Hepatic failure, Elevated circulating hepatic transaminase concentration, Hypoglycemia, Microvesi... OMIM:611126
Mitochondrial Complex Iv Deficiency, Nuclear Type 22
Elevated circulating tetradecanoylcarnitine concentration, Hepatic failure, Elevated circulating ... OMIM:619355
Combined Oxidative Phosphorylation Deficiency 37
Hypoalbuminemia, Elevated gamma-glutamyltransferase level, Elevated circulating hepatic transamin... OMIM:618329
Orthostatic Hypotension 2
Anemia, Hypoglycemia OMIM:618182
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Elevated gamma-glutamyltransferase level, Hepatic failure, Micronodular cirrhosis, Hypoglycemia, ... OMIM:256810
Mitochondrial Trifunctional Protein Deficiency 2
Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, Hyperammonemia, Elev... OMIM:620300
Fructose-1,6-Bisphosphatase Deficiency
Hepatomegaly, Reduced tissue fructose-1,6-bisphosphatase activity, Hypoglycemia OMIM:229700
Glycogen Storage Disease Ia
Elevated circulating hepatic transaminase concentration, Hypoglycemia, Xanthelasma, Hyperlipidemi... OMIM:232200
Glycogen Storage Disease Ib
Elevated circulating hepatic transaminase concentration, Hypoglycemia, Reduced hepatic glucose-6-... OMIM:232220
Polyendocrine-Polyneuropathy Syndrome
Type I diabetes mellitus, Central hypothyroidism, Hypoglycemia, Hypogonadotropic hypogonadism, Ab... OMIM:616113
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Failure to thrive, Hypoglycemia, Abnormal circulating androgen level, Increased circulating ACTH ... ORPHA:90790
Glucocorticoid Deficiency 2
Hypoglycemia, Recurrent hypoglycemia, Increased circulating ACTH level, Abnormal circulating reni... OMIM:607398
Dubowitz Syndrome
Decreased circulating IgG level, Aplastic anemia, Hypocholesterolemia, Decreased circulating IgA ... OMIM:223370
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Accessory spleen, Cholestatic liver disease, Failure to thrive, Polysplenia, Hypoglycemia, Exocri... OMIM:619418
Multiple Endocrine Neoplasia, Type I
Thyroid adenoma, Pituitary adenoma, Increased circulating cortisol level, Hypoglycemia, Subcutane... OMIM:131100
Acute Adrenal Insufficiency
Normocytic anemia, Failure to thrive, Hypoglycemia, Androgen insufficiency, Increased circulating... ORPHA:95409
Addison Disease
Adrenal calcification, Weight loss, Anorexia, Hypoparathyroidism, Hyperkalemia, Thymoma, Androgen... ORPHA:85138
Pancreatic And Cerebellar Agenesis
Pancreatic hypoplasia, Hypoglycemia, Failure to thrive, Hyperglycemia, Reduced subcutaneous adipo... OMIM:609069
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To
Hypoornithinemia, Hypoglycemia, Hyperammonemia, Hyperprolinemia, Hyperglutaminemia, Low plasma ci... OMIM:615751
Tyrosinemia, Type I
Hypermethioninemia, Hepatic failure, Elevated circulating hepatic transaminase concentration, Fai... OMIM:276700
Renal Cysts And Diabetes Syndrome
Elevated circulating hepatic transaminase concentration, Abnormality of alkaline phosphatase leve... OMIM:137920
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Xanthelasma, Hepatic steatosis, Hepatomegaly, Chronic neutropenia, Hypothyroidism, Hypertriglycer... ORPHA:79259
Smith-Lemli-Opitz Syndrome
Hypoalbuminemia, Cholestatic liver disease, Precocious puberty, Failure to thrive, Hypocholestero... OMIM:270400
Fructose Intolerance, Hereditary
Elevated circulating hepatic transaminase concentration, Glycosuria, Hypoglycemia, Failure to thr... OMIM:229600
Kaufman Oculocerebrofacial Syndrome
Hypocholesterolemia, Failure to thrive OMIM:244450
Tangier Disease
Hypocholesterolemia, Hepatosplenomegaly, Thrombocytopenia, Hypertriglyceridemia, Anemia ORPHA:31150
Glycogen Storage Disease Ic
Hypoglycemia, Cyclic neutropenia, Xanthelasma, Hyperlipidemia, Chronic pancreatitis, Hyperuricemi... OMIM:232240
Trichotillomania
Hair-pulling OMIM:613229
Generalized Glucocorticoid Resistance Syndrome
Precocious puberty, Abnormal circulating testosterone concentration, Increased circulating cortis... ORPHA:786
Choreoacanthocytosis
Mental deterioration, Falls, Decreased amplitude of sensory action potentials, Short attention sp... ORPHA:2388
Intellectual Developmental Disorder, Autosomal Dominant 38
Hair-pulling, Ataxia OMIM:616393
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome
Hypsarrhythmia, Hair-pulling ORPHA:447997
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Hair-pulling, Attention deficit hyperactivity disorder, Broad-based gait OMIM:620330
Cornelia De Lange Syndrome 6
Hair-pulling OMIM:620568
Monosomy 22Q13.3
Hair-pulling ORPHA:48652

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 Foxo6

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 Foxo6.

There are 1 publication which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Forkhead Box O6 (FoxO6) Depletion Attenuates Hepatic Gluconeogenesis and Protects against Fat-induced Glucose Disorder in Mice. The Journal of biological chemistry (May 2015) Foxo6tm1(KOMP)Vlcg PMC4505471

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MGI Allele Allele Type Produced
Foxo6tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells

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