Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
acyl-CoA thioesterase 11
Synonyms:
Them1,  2010309H15Rik,  BFIT1,  1110020M10Rik,  Thea

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 Acot11 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 Acot11 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Obesity Due To Melanocortin 4 Receptor Deficiency
Hyperinsulinemia, Obesity, Increased adipose tissue, Childhood-onset truncal obesity, Type II dia... ORPHA:71529
Glycogen Storage Disease Vi
Hypoglycemia, Hyperlipidemia, Failure to thrive in infancy, Hypercholesterolemia, Increased hepat... OMIM:232700
Lipodystrophy, Familial Partial, Type 1
Lipodystrophy, Acute pancreatitis, Loss of gluteal subcutaneous adipose tissue, Increased subcuta... OMIM:608600
Lipodystrophy, Congenital Generalized, Type 3
Lipodystrophy, Hepatic steatosis, Hepatosplenomegaly, Insulin resistance, Hypercholesterolemia, H... OMIM:612526
Lipase Deficiency, Combined
Lipodystrophy, Hypertriglyceridemia, Type II diabetes mellitus, Pancreatitis OMIM:246650
Plin1-Related Familial Partial Lipodystrophy
Hepatic steatosis, Hyperinsulinemia, Loss of gluteal subcutaneous adipose tissue, Lipoatrophy, Re... ORPHA:280356
Coronary Artery Disease, Autosomal Dominant 2
Hyperlipidemia, Hypercholesterolemia, Glucose intolerance, Diabetes mellitus, Hypertriglyceridemi... OMIM:610947
Glycogen Storage Disease Ixa1
Hypoglycemia, Hypercholesterolemia, Hepatomegaly, Elevated hepatic transaminase, Hypertriglycerid... OMIM:306000
Lipodystrophy, Familial Partial, Type 3
Lipodystrophy, Hepatic steatosis, Insulin resistance, Loss of gluteal subcutaneous adipose tissue... OMIM:604367
Lipodystrophy, Familial Partial, Type 4
Lipodystrophy, Hepatic steatosis, Insulin resistance, Lipoatrophy, Insulin-resistant diabetes mel... OMIM:613877
Morbid Obesity And Spermatogenic Failure
Hepatic steatosis, Insulin resistance, Hypercholesterolemia, Obesity, Hypertriglyceridemia, Incre... OMIM:615703
Proteasome-Associated Autoinflammatory Syndrome 5
Failure to thrive in infancy, Splenomegaly, Hepatomegaly, Hypertriglyceridemia, Skin rash OMIM:619175
Hyperinsulinism Due To Hnf1A Deficiency
Ketotic hypoglycemia, Large for gestational age, Hypoglycemic seizures, Fasting hypoglycemia, Neo... ORPHA:324575
Lipe-Related Familial Partial Lipodystrophy
Lipodystrophy, Hepatic steatosis, Hyperlipidemia, Insulin resistance, Loss of gluteal subcutaneou... ORPHA:435660
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Hypoglycemia, Hypertriglyceridemia ORPHA:366
Obesity Due To Prohormone Convertase I Deficiency
Hypoglycemic seizures, Hyperinsulinemia, Cholestasis, Obesity, Increased adipose tissue, Failure ... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Hypoglycemic seizures, Hyperinsulinemia, Cholestasis, Obesity, Increased adipose tissue, Failure ... ORPHA:71526
Akt2-Related Familial Partial Lipodystrophy
Lipodystrophy, Hepatic steatosis, Hyperlipidemia, Insulin resistance, Hepatomegaly, Insulin-resis... ORPHA:79085
Cidec-Related Familial Partial Lipodystrophy
Lipodystrophy, Hepatic steatosis, Hyperlipidemia, Loss of gluteal subcutaneous adipose tissue, He... ORPHA:435651
Lipodystrophy, Familial Partial, Type 2
Lipodystrophy, Acute pancreatitis, Hepatic steatosis, Hyperinsulinemia, Hypercholesterolemia, Los... OMIM:151660
Temple Syndrome
Recurrent otitis media, Flexion contracture, Small for gestational age, Hypercholesterolemia, Ove... OMIM:616222
Neutral Lipid Storage Disease With Myopathy
Hepatic steatosis, Hepatomegaly, Elevated circulating creatine kinase concentration, Elevated hep... OMIM:610717
Severe Neurodegenerative Syndrome With Lipodystrophy
Hepatic steatosis, Insulin resistance, Hyperinsulinemia, Reduced intraabdominal adipose tissue, G... ORPHA:363400
Hypertriglyceridemia 2
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia OMIM:619324
Lipodystrophy, Familial Partial, Type 5
Lipodystrophy, Diabetic ketoacidosis, Hepatic steatosis, Increased C-peptide level, Hepatomegaly,... OMIM:615238
Congenital Generalized Lipodystrophy
Lipodystrophy, Hepatic steatosis, Increased C-peptide level, Insulin resistance, Hyperinsulinemia... ORPHA:528
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Large for gestational age, Hypoglycemic seizures, Fasting hypoglycemia, Increased C-peptide level... ORPHA:276580
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Large for gestational age, Hypoglycemic seizures, Fasting hypoglycemia, Increased C-peptide level... ORPHA:276575
Atherosclerosis Susceptibility
Hypertriglyceridemia, Decreased HDL cholesterol concentration OMIM:108725
Mandibuloacral Dysplasia
Insulin resistance, Hyperinsulinemia, Increased subcutaneous truncal adipose tissue, Hypercholest... ORPHA:2457
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Lipodystrophy, Hepatic steatosis, Flexion contracture, Insulin resistance, Hepatomegaly, Diabetes... OMIM:615381
Hyperinsulinism Due To Ucp2 Deficiency
Large for gestational age, Hypoglycemic seizures, Increased C-peptide level, Decreased circulatin... ORPHA:276556
Familial Partial Lipodystrophy, Dunnigan Type
Lipodystrophy, Cellulitis, Hepatic steatosis, Insulin resistance, Splenomegaly, Lipoatrophy, Hepa... ORPHA:2348
Pparg-Related Familial Partial Lipodystrophy
Hepatic steatosis, Insulin resistance, Maternal diabetes, Splenomegaly, Lipoatrophy, Hepatomegaly... ORPHA:79083
Hypertriglyceridemia, Transient Infantile
Hepatic steatosis, Splenomegaly, Hepatomegaly, Elevated hepatic transaminase, Hypertriglyceridemi... OMIM:614480
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome
Hepatic steatosis, Hypertriglyceridemia, Insulin-resistant diabetes mellitus ORPHA:436182
Hyperlipoproteinemia, Type Iv
Glucose intolerance, Increased VLDL cholesterol concentration, Hypertriglyceridemia OMIM:144600
Hypertriglyceridemia 1
Glucose intolerance, Increased VLDL cholesterol concentration, Hypertriglyceridemia OMIM:145750
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive
Elevated circulating creatine kinase concentration, Elbow flexion contracture, Hypertriglyceridem... OMIM:616516
Lymphoproliferative Syndrome, X-Linked, 2
Increased circulating ferritin concentration, Recurrent skin infections, Erythema nodosum, Coliti... OMIM:300635
Lipodystrophy, Familial Partial, Type 6
Lipodystrophy, Hepatic steatosis, Hyperlipidemia, Insulin resistance, Abnormal circulating lipid ... OMIM:615980
Hyperlipoproteinemia, Type Ii, And Deafness
Increased LDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia OMIM:144300
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Hypocholesterolemia, Hypersplenism, Splenomegaly, Hepatomegaly OMIM:610539
Fish-Eye Disease
Decreased HDL cholesterol concentration, Increased VLDL cholesterol concentration, Hypertriglycer... OMIM:136120
Acquired Generalized Lipodystrophy
Acute pancreatitis, Hepatic steatosis, Insulin resistance, Hyperinsulinemia, Abnormal circulating... ORPHA:79086
Citrullinemia, Type Ii, Neonatal-Onset
Hypercholesterolemia, Elevated plasma citrulline, Hypermethioninemia, Intrahepatic cholestasis, F... OMIM:605814
Encephalopathy, Progressive, With Or Without Lipodystrophy
Hepatomegaly, Hypertriglyceridemia OMIM:615924
Hemophagocytic Lymphohistiocytosis, Familial, 4
Increased circulating ferritin concentration, Splenomegaly, Hepatomegaly, Jaundice, Hypertriglyce... OMIM:603552
Cholesteryl Ester Storage Disease
Hepatic failure, Hypercholesterolemia, Splenomegaly, Hepatomegaly, Jaundice, Hypertriglyceridemia... ORPHA:75234
Niemann-Pick Disease, Type B
Splenomegaly, Hepatomegaly, Hypertriglyceridemia, Increased LDL cholesterol concentration, Decrea... OMIM:607616
Proteasome-Associated Autoinflammatory Syndrome 3
Lipodystrophy, Sinusitis, Myositis, Flexion contracture, Arthritis, Splenomegaly, Hepatomegaly, F... OMIM:617591
Lipodystrophy, Congenital Generalized, Type 4
Lipodystrophy, Hepatic steatosis, Flexion contracture, Insulin resistance, Hyperinsulinemia, Sple... OMIM:613327
Glycosylphosphatidylinositol Biosynthesis Defect 17
Hypertriglyceridemia OMIM:618010
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis
Blepharitis, Decreased LDL cholesterol concentration, Failure to thrive, Psoriasiform dermatitis,... OMIM:616834
Bile Acid Synthesis Defect, Congenital, 1
Hepatic failure, Splenomegaly, Hepatomegaly, Jaundice, Giant cell hepatitis, Failure to thrive, I... OMIM:607765
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Hypoglycemic seizures, Cholestasis, Obesity, Hyperbilirubinemia, Polyphagia OMIM:609734
Chylomicron Retention Disease
Hypotriglyceridemia, Failure to thrive, Hypoalbuminemia, Hypocholesterolemia, Steatorrhea, Decrea... OMIM:246700
Glycogen Storage Disease Ixc
Fasting hypoglycemia, Hypoglycemia, Bile duct proliferation, Increased hepatic glycogen content, ... OMIM:613027
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Lipodystrophy, Minimal subcutaneous fat, Hepatic steatosis, Insulin resistance, Increased facial ... ORPHA:280365
Lysosomal Acid Lipase Deficiency
Hepatic failure, Hypersplenism, Decreased HDL cholesterol concentration, Periportal fibrosis, Inc... OMIM:278000
Fanconi-Bickel Syndrome
Glycosuria, Fasting hypoglycemia, Hepatic failure, Elevated circulating alanine aminotransferase ... ORPHA:2088
Lipodystrophy, Congenital Generalized, Type 1
Lipodystrophy, Acute pancreatitis, Hepatic steatosis, Cirrhosis, Hyperinsulinemia, Reduced intraa... OMIM:608594
Glycerol Kinase Deficiency
Small for gestational age, Hypoglycemia, Hypertriglyceridemia OMIM:307030
Cholesterol-Ester Transfer Protein Deficiency
Hyperlipoproteinemia, Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholesterolem... ORPHA:79506
Type 1 Diabetes Mellitus
Polydipsia, Decreased level of 1,5 anhydroglucitol in serum, Diabetes mellitus, Polyphagia, Hyper... OMIM:222100
Hypercholesterolemia, Familial, 4
Increased VLDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia OMIM:603813
Lipodystrophy, Congenital Generalized, Type 2
Lipodystrophy, Acute pancreatitis, Hepatic steatosis, Cirrhosis, Hyperinsulinemia, Reduced intraa... OMIM:269700
Citrullinemia Type Ii
Hepatic steatosis, Hypoproteinemia, Hyperlipidemia, Hepatic fibrosis, Hypercholesterolemia, Hepat... ORPHA:247585
Citrullinemia, Type Ii, Adult-Onset
Hepatic steatosis, Elevated circulating alanine aminotransferase concentration, Elevated plasma c... OMIM:603471
Obesity
Obesity, Decreased resting energy expenditure, Increased waist to hip ratio OMIM:601665
Hemophagocytic Lymphohistiocytosis, Familial, 3
Hepatosplenomegaly, Hypertriglyceridemia OMIM:608898
Squalene Synthase Deficiency
Increased circulating farnesol concentration, Elbow flexion contracture, Elevated circulating met... OMIM:618156
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Achilles tendon contracture, Lipodystrophy, Decreased cervical spine flexion due to contractures ... ORPHA:98855
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Hypoglycemia, Hyperlipidemia, Increased hepatic glycogen content, Hepatomegaly, Failure to thrive... ORPHA:369
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Increased circulating ferritin concentration, Hepatosplenomegaly, Colitis, Splenomegaly, Recurren... OMIM:613101
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
Hepatic steatosis, Fasting hypoglycemia, Cholestasis, Hypercholesterolemia, Splenomegaly, Hepatom... ORPHA:370
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Increased circulating ferritin concentration, Panniculitis, Hypertriglyceridemia, Splenomegaly OMIM:618398
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Ketotic hypoglycemia, Fasting hypoglycemia, Hypercholesterolemia, Recurrent hypoglycemia, Splenom... ORPHA:79240
Peroxisome Biogenesis Disorder 3B
Failure to thrive, Hypocholesterolemia, Hepatomegaly, Steatorrhea OMIM:266510
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hepatic steatosis, Fasting hypoglycemia, Hypoglycemia, Cholestasis, Hypercholesterolemia, Splenom... ORPHA:264580
Obesity Due To Sim1 Deficiency
Polyphagia, Glucose intolerance, Obesity, Hyperinsulinemia ORPHA:369873
Growth Hormone Insensitivity Syndrome
Hypoglycemia, Insulin resistance, Hypercholesterolemia, Truncal obesity, Failure to thrive, Diabe... ORPHA:181393
X-Linked Emery-Dreifuss Muscular Dystrophy
Achilles tendon contracture, Lipodystrophy, Decreased cervical spine flexion due to contractures ... ORPHA:98863
Obesity Due To Congenital Leptin Deficiency
Hyperinsulinemia, Obesity, Insulin-resistant diabetes mellitus, Hypertriglyceridemia, Polyphagia ORPHA:66628
Potocki-Lupski Syndrome
Hypocholesterolemia, Oral-pharyngeal dysphagia, Small for gestational age, Failure to thrive OMIM:610883
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Achilles tendon contracture, Lipodystrophy, Decreased cervical spine flexion due to contractures ... ORPHA:98853
Emery-Dreifuss Muscular Dystrophy
Achilles tendon contracture, Lipodystrophy, Decreased cervical spine flexion due to contractures ... ORPHA:261
Familial Chylomicronemia Syndrome
Acute pancreatitis, Increased circulating chylomicron concentration, Hyperlipidemia, Recurrent pa... ORPHA:444490
Dysbetalipoproteinemia
Acute pancreatitis, Hepatic steatosis, Hypercholesterolemia, Obesity, Hepatomegaly, Xanthelasma, ... ORPHA:412
Lecithin:Cholesterol Acyltransferase Deficiency
Hypertriglyceridemia, Decreased HDL cholesterol concentration OMIM:245900
Obesity Due To Leptin Receptor Gene Deficiency
Hyperinsulinemia, Obesity, Insulin-resistant diabetes mellitus, Hypertriglyceridemia, Polyphagia ORPHA:179494
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Polyphagia, Obesity, Hyperinsulinemia ORPHA:329249
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Hepatic steatosis, Cholestasis, Hypercholesterolemia, Obesity, Cholesterol gallstones, Acute hepa... ORPHA:209902
Congenital Disorder Of Glycosylation, Type Ia
Hepatic steatosis, Flexion contracture, Hepatomegaly, Abnormal subcutaneous fat tissue distributi... OMIM:212065
Cholestasis-Lymphedema Syndrome
Multiple lipomas, Portal hypertension, Hyperlipidemia, Splenomegaly, Hepatomegaly, Jaundice, Bili... ORPHA:1414
Protoporphyria, Erythropoietic, 1
Eczema, Cholelithiasis, Hepatic failure, Hypertriglyceridemia OMIM:177000
Body Mass Index Quantitative Trait Locus 20
Polyphagia, Obesity, Hyperinsulinemia OMIM:618406
Temple Syndrome
Small for gestational age, Recurrent hypoglycemia, Obesity, Type II diabetes mellitus, Polyphagia ORPHA:254516
Alstrom Syndrome
Recurrent pneumonia, Hepatic steatosis, Hyperinsulinemia, Tubulointerstitial nephritis, Hepatomeg... OMIM:203800
Primary Lipodystrophy
Lipodystrophy, Hepatic steatosis, Hyperlipidemia, Insulin resistance, Splenomegaly, Lipoatrophy, ... ORPHA:90970
Insulinoma
Nonketotic hypoglycemia, Hyperinsulinemia, Recurrent hypoglycemia, Reactive hypoglycemia, Fasting... ORPHA:97279
Leptin Deficiency Or Dysfunction
Polyphagia, Obesity, Recurrent pneumonia, Abnormal eating behavior OMIM:614962
Lipodystrophy, Familial Partial, Type 7
Lipodystrophy, Recurrent pancreatitis, Insulin resistance, Hypercholesterolemia, Small for gestat... OMIM:606721
Hyperinsulinism Due To Insr Deficiency
Hypoglycemia, Insulin resistance, Recurrent hypoglycemia, Fasting hyperinsulinemia, Hyperinsuline... ORPHA:263458
Chylomicron Retention Disease
Hepatic steatosis, Increased hepatocellular lipid droplets, Failure to thrive, Elevated hepatic t... ORPHA:71
Macrophage Activation Syndrome
Increased circulating ferritin concentration, Elevated circulating alanine aminotransferase conce... ORPHA:158061
H Syndrome
Lipodystrophy, Hepatosplenomegaly, Chronic rhinitis, Hernia, Bronchiectasis, Psoriasiform dermati... ORPHA:168569
Rajab Interstitial Lung Disease With Brain Calcifications 2
Hepatic steatosis, Hepatosplenomegaly, Elevated hepatic transaminase, Hypoalbuminemia, Hypertrigl... OMIM:619013
Glycogen Storage Disease Iii
Hypoglycemia, Hyperlipidemia, Hepatomegaly, Elevated circulating creatine kinase concentration, E... OMIM:232400
Hemophagocytic Lymphohistiocytosis, Familial, 1
Increased circulating ferritin concentration, Hypoproteinemia, Hyponatremia, Infectious encephali... OMIM:267700
Hyperlipoproteinemia, Type Id
Hyperlipoproteinemia, Increased circulating chylomicron concentration, Recurrent pancreatitis, Co... OMIM:615947
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Increased circulating ferritin concentration, Hepatic failure, Hepatosplenomegaly, Elevated circu... ORPHA:158057
Abdominal Obesity-Metabolic Syndrome 4
Obesity, Increased LDL cholesterol concentration, Elevated hemoglobin A1c, Hypertriglyceridemia, ... OMIM:618620
Cholestasis-Lymphedema Syndrome
Erysipelas, Hyperlipidemia, Splenomegaly, Hepatomegaly, Conjugated hyperbilirubinemia, Jaundice, ... OMIM:214900
Smith-Magenis Syndrome
Increased body weight, Hypertriglyceridemia, Hypercholesterolemia OMIM:182290
Hypotonia-Cystinuria Syndrome
Polyphagia, Failure to thrive, Hypocalcemia, Neonatal hypoglycemia OMIM:606407
Mandibuloacral Dysplasia With Type B Lipodystrophy
Flexion contracture, Hyperlipidemia, Hyperinsulinemia, Decreased adipose tissue around neck, Loss... OMIM:608612
Alg12-Cdg
Recurrent pneumonia, Hyponatremia, Chronic rhinitis, Recurrent hypoglycemia, Abnormal adipose tis... ORPHA:79324
Huntington Disease
Choking episodes, Oral-pharyngeal dysphagia, Decreased body mass index, Polyphagia, Abnormal circ... ORPHA:399
Familial Hemophagocytic Lymphohistiocytosis
Increased circulating ferritin concentration, Colitis, Infectious encephalitis, Maculopapular exa... ORPHA:540
Macrosomia Adiposa Congenita
Polyphagia, Obesity, Large for gestational age OMIM:248100
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Failure to thrive in infancy, Cholestasis, Hyperbilirubinemia, Hyperammonemia, Decreased HDL chol... ORPHA:247598
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Microvesicular hepatic steatosis, Hepatic failure, Hypoglycemia, Cholestasis, Jaundice, Failure t... OMIM:617156
Proteasome-Associated Autoinflammatory Syndrome 1
Recurrent otitis media, Episcleritis, Epididymitis, Conjunctivitis, Decreased HDL cholesterol con... OMIM:256040
Leptin Receptor Deficiency
Polyphagia, Obesity, Abnormal eating behavior, Diabetes mellitus OMIM:614963
Seckel Syndrome 10
Glycosuria, Acute pancreatitis, Elevated circulating alanine aminotransferase concentration, Hepa... OMIM:617253
Obesity, Hyperphagia, And Developmental Delay
Polyphagia, Obesity OMIM:613886
Mandibuloacral Dysplasia With Type A Lipodystrophy
Lipodystrophy, Flexion contracture, Hyperlipidemia, Hyperinsulinemia, Increased facial adipose ti... OMIM:248370
Bardet-Biedl Syndrome 22
Polyphagia, Obesity, Large for gestational age OMIM:617119
Bardet-Biedl Syndrome 9
Polydipsia, Obesity, Truncal obesity, Polyphagia, Hyperglycemia OMIM:615986
Maternal Uniparental Disomy Of Chromosome 4
Abetalipoproteinemia, Decreased body weight, Elevated circulating creatine kinase concentration, ... ORPHA:96180
Apolipoprotein C-Ii Deficiency
Increased circulating chylomicron concentration, Hypercholesterolemia, Splenomegaly, Hepatomegaly... OMIM:207750
Hepatic Lipase Deficiency
Increased HDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia OMIM:614025
Idiopathic Steroid-Resistant Nephrotic Syndrome
Hypercholesterolemia, Peritonitis, Abnormal circulating lipid concentration, Hypertriglyceridemia... ORPHA:567548
Nephrotic Syndrome, Type 14
Hypoalbuminemia, Hypoglycemia, Hypertriglyceridemia OMIM:617575
Hemophagocytic Lymphohistiocytosis, Familial, 2
Increased circulating ferritin concentration, Hypoproteinemia, Hyponatremia, Hepatosplenomegaly, ... OMIM:603553
Schaaf-Yang Syndrome
Flexion contracture, Failure to thrive in infancy, Obesity, Arthrogryposis multiplex congenita, P... OMIM:615547
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hypoglycemic seizures, Hypoglycemia, Hyperlipidemia, Hepatic steatosis, Hypercholesterolemia, Per... ORPHA:79259
Secondary Short Bowel Syndrome
Cholestasis, Abnormal blood ion concentration, Failure to thrive, Low plasma citrulline, Enteroco... ORPHA:95427
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Glycosuria, Ketotic hypoglycemia, Hyperlipidemia, Failure to thrive, Elevated hepatic transaminas... ORPHA:2089
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Exocrine pancreatic insufficiency, Microvesicular hepatic steatosis, Hepatic steatosis, Neonatal ... OMIM:619418
Diarrhea 7, Protein-Losing Enteropathy Type
Failure to thrive, Hyperlipidemia, Hypoalbuminemia, Hypercholesterolemia OMIM:615863
Hypotonia-Cystinuria Syndrome
Polyphagia, Failure to thrive ORPHA:163690
Primary Pigmented Nodular Adrenocortical Disease
Hepatic steatosis, Hyperlipidemia, Acne, Dorsocervical fat pad, Abnormal subcutaneous fat tissue ... ORPHA:189439
Prader-Willi Syndrome Due To Imprinting Mutation
Polyphagia, Obesity ORPHA:177910
Familial Multiple Lipomatosis
Lipodystrophy, Hyperlipidemia, Increased adipose tissue, Insulin resistance ORPHA:199276
Intellectual Developmental Disorder, Autosomal Dominant 39
Polyphagia, Obesity OMIM:616521
Abetalipoproteinemia
Hepatic steatosis, Decreased LDL cholesterol concentration, Hypotriglyceridemia, Hepatomegaly, Ke... ORPHA:14
Cebalid Syndrome
Polyphagia, Congenital diaphragmatic hernia OMIM:618774
Kleine-Levin Hibernation Syndrome
Polyphagia OMIM:148840
Smith-Magenis Syndrome
Failure to thrive in infancy, Hypercholesterolemia, Obesity, Chronic otitis media, Hypertriglycer... ORPHA:819
Congenital Analbuminemia
Lipodystrophy, Hypoproteinemia, Hyperlipidemia, Small for gestational age, Hypercholesterolemia, ... ORPHA:86816
6Q16 Microdeletion Syndrome
Polyphagia, Obesity ORPHA:171829
Lmna-Related Cardiocutaneous Progeria Syndrome
Abnormality of the intrahepatic bile duct, Lipoatrophy, Hypertriglyceridemia, Hypercholesterolemia ORPHA:363618
Hemochromatosis, Neonatal
Increased circulating ferritin concentration, Hepatic failure, Hypoglycemia, Cholestasis, Hepatoc... OMIM:231100
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency
Hypoglycemia, Hyperlipidemia, Hyperuricemia ORPHA:364
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal
Hypocholesterolemia, Hepatomegaly OMIM:618810
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Polyphagia, Obesity ORPHA:411515
Hyperlipoproteinemia, Type I
Increased circulating chylomicron concentration, Hyperlipidemia, Hepatosplenomegaly, Hypercholest... OMIM:238600
Body Mass Index Quantitative Trait Locus 19
Obesity, Hyperlipidemia, Insulin resistance OMIM:617885
Lysinuric Protein Intolerance
Hepatic failure, Membranous nephropathy, Pancreatitis, Hyperammonemia, Decreased HDL cholesterol ... ORPHA:470
Hyperlipidemia Due To Hepatic Triacylglycerol Lipase Deficiency
Increased HDL cholesterol concentration, Hypertriglyceridemia ORPHA:140905
Low Phospholipid-Associated Cholelithiasis
Cholelithiasis, Biliary cirrhosis, Sclerosing cholangitis, Biliary tract obstruction, Cholangitis... ORPHA:69663
Ataxia With Vitamin E Deficiency
Xanthelasma, Increased LDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia OMIM:277460
Carnitine Deficiency, Systemic Primary
Hepatic steatosis, Hypoglycemia, Impaired gluconeogenesis, Recurrent hypoglycemia, Decreased plas... OMIM:212140
Cushing Syndrome Due To Macronodular Adrenal Hyperplasia
Hepatic steatosis, Hyperlipidemia, Acne, Dorsocervical fat pad, Paradoxical increased cortisol se... ORPHA:189427
Galactokinase Deficiency
Hypergalactosemia, Hypoglycemia, Hepatosplenomegaly, Hyperinsulinemia, Hypercholesterolemia, Smal... ORPHA:79237
Renal Glucosuria
Glycosuria, Polydipsia, Polyphagia OMIM:233100
Gaisböck Syndrome
Hypercholesterolemia, Increased circulating renin level, Cholecystitis, Obesity, Overweight, Hype... ORPHA:90041
Lcat Deficiency
Decreased circulating apolipoprotein AI concentration, Hypertriglyceridemia, Decreased HDL choles... ORPHA:650
Classical-Like Ehlers-Danlos Syndrome Type 2
Cellulitis, Ventral hernia, Periodontitis, Inguinal hernia, Widened atrophic scar, Keratoconjunct... ORPHA:536532
Pick Disease Of Brain
Polyphagia OMIM:172700
Pediatric-Onset Graves Disease
Polydipsia, Splenomegaly, Hepatomegaly, Jaundice, Episcleritis, Failure to thrive, Polyphagia, El... ORPHA:525731
Paternal Uniparental Disomy Of Chromosome 1
Hypercalcemia, Increased blood urea nitrogen, Obesity, Abnormal dental enamel morphology, Polypha... ORPHA:251004
Lysosomal Acid Lipase Deficiency
Microvesicular hepatic steatosis, Hepatic failure, Hyponatremia, Hepatosplenomegaly, Hepatic fibr... ORPHA:275761
Carnitine Palmitoyltransferase I Deficiency
Transient hyperlipidemia, Hepatic steatosis, Hepatomegaly, Elevated circulating creatine kinase c... OMIM:255120
Mandibuloacral Dysplasia Progeroid Syndrome
Flexion contracture, Generalized lipodystrophy, Hepatomegaly, Elevated hemoglobin A1c, Elevated h... OMIM:619127
Frontotemporal Dementia
Polyphagia OMIM:600274
Graves Disease, Susceptibility To, 1
Polyphagia, Weight loss OMIM:275000
Man1B1-Cdg
Polyphagia, Truncal obesity ORPHA:397941
Neutral Lipid Storage Disease With Ichthyosis
Hepatic steatosis, Hepatomegaly, Elevated hepatic transaminase, Abnormal circulating creatine kin... ORPHA:98907
Nephrotic Syndrome, Type 2
Hyperlipidemia, Hypoalbuminemia OMIM:600995
Insulin-Resistance Syndrome Type B
Glycosuria, Biliary cirrhosis, Postprandial hyperglycemia, Abnormal oral glucose tolerance, Skin ... ORPHA:2298
Atypical Werner Syndrome
Glycosuria, Hepatic steatosis, Decreased body weight, Hyperinsulinemia, Generalized lipodystrophy... ORPHA:79474
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hepatic steatosis, Hepatic failure, Hypoglycemia, Portal hypertension, Periportal fibrosis, Splen... OMIM:251880
Focal Segmental Glomerulosclerosis 1
Hyperlipidemia, Hypoalbuminemia OMIM:603278
Neutral Lipid Storage Myopathy
Hepatic steatosis, Cholecystitis, Hepatomegaly, Chronic pancreatitis, Diabetes mellitus, Abnormal... ORPHA:98908
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Cyanosis, Hepatic steatosis, Fasting hypoglycemia, Hypoglycemia, Hepatic failure, Impaired glucon... OMIM:261680
Chronic Visceral Acid Sphingomyelinase Deficiency
Cholelithiasis, Hepatic failure, Hyperlipidemia, Abnormal circulating lipid concentration, Decrea... ORPHA:77293
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Cyanosis, Hyperlipidemia, Hyponatremia, Infectious encephalitis, Obesity, Polyphagia, Elevated he... ORPHA:293987
Hyperlipidemia, Familial Combined, 3
Hyperlipidemia, Hypercholesterolemia, Elevated circulating apolipoprotein B concentration, Xanthe... OMIM:144250
Mody
Glycosuria, Large for gestational age, Exocrine pancreatic insufficiency, Neonatal hypoglycemia, ... ORPHA:552
Xp21 Deletion Syndrome
Elevated circulating creatine kinase concentration, Recurrent otitis media, Hypertriglyceridemia ORPHA:261476
Hemophagocytic Syndrome Associated With An Infection
Increased circulating ferritin concentration, Splenomegaly, Hepatomegaly, Elevated hepatic transa... ORPHA:158048
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Hypoplastic spleen, Increased circulating ferritin concentration, Hypertriglyceridemia OMIM:619313
Mandibuloacral Dysplasia With Type B Lipodystrophy
Calcinosis, Generalized lipodystrophy, Insulin resistance, Hyperlipidemia ORPHA:90154
Secondary Intestinal Lymphangiectasia
Constrictive pericarditis, Secondary hyperaldosteronism, Reduced circulating transferrin concentr... ORPHA:90363
Parenteral Nutrition-Associated Cholestasis
Cholelithiasis, Hepatic steatosis, Hepatic failure, Hyperlipidemia, Portal hypertension, Small fo... ORPHA:567983
Microtriplication 11Q24.1
Obesity, Hyperlipidemia ORPHA:289522
Methanol Poisoning
Hyperlipidemia, Type I diabetes mellitus, Type II diabetes mellitus ORPHA:31825
Kaufman Oculocerebrofacial Syndrome
Failure to thrive, Hypocholesterolemia OMIM:244450
Magel2-Related Prader-Willi-Like Syndrome
Flexion contracture, Failure to thrive, Type II diabetes mellitus, Abdominal obesity, Polyphagia,... ORPHA:398069
Chédiak-Higashi Syndrome
Increased circulating ferritin concentration, Hypoproteinemia, Hyponatremia, Hepatosplenomegaly, ... ORPHA:167
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Mildly elevated creatine kinase, Hyperlipidemia OMIM:604484
Wiedemann-Rautenstrauch Syndrome
Flexion contracture, Lipoatrophy, Reduced subcutaneous adipose tissue, Failure to thrive, Absence... OMIM:264090
2Q23.1 Microdeletion Syndrome
Polyphagia ORPHA:228402
Immunodeficiency 87 And Autoimmunity
Hypokalemia, Hepatic failure, Elevated circulating alanine aminotransferase concentration, Hepati... OMIM:619573
Pancreatic And Cerebellar Agenesis
Hypoglycemia, Pancreatic hypoplasia, Reduced subcutaneous adipose tissue, Failure to thrive, Diab... OMIM:609069
Luscan-Lumish Syndrome
Polyphagia, Recurrent otitis media, Obesity OMIM:616831
Sim1-Related Prader-Willi-Like Syndrome
Obesity, Failure to thrive, Type II diabetes mellitus, Abdominal obesity, Polyphagia ORPHA:398079
Alagille Syndrome 1
Exocrine pancreatic insufficiency, Hepatic failure, Cholestasis, Hypercholesterolemia, Reduced nu... OMIM:118450
Tangier Disease
Hypocholesterolemia, Hepatosplenomegaly, Hypertriglyceridemia ORPHA:31150
Trisomy 18P
Polyphagia ORPHA:1715
Carnitine Palmitoyltransferase Ii Deficiency
Hepatic failure, Decreased plasma total carnitine, Hyperlipidemia, Elevated circulating acylcarni... ORPHA:157
Griscelli Syndrome Type 1
Hyperlipidemia ORPHA:79476
Pseudohypoparathyroidism Type 1C
Hypocalcemic seizures, Enamel hypoplasia, Hypocalcemia, Obesity, Calcinosis, Hyperphosphatemia, H... ORPHA:79444
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal
Hypertriglyceridemia, Hypercholesterolemia OMIM:610644
Prader-Willi Syndrome
Failure to thrive in infancy, Hyperinsulinemia, Obesity, Type II diabetes mellitus, Abdominal obe... OMIM:176270
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Small for gestational age, Obesity, Failure to thrive, Diabetes mellitus, Polyphagia, Bulimia ORPHA:98754
Cholestasis, Progressive Familial Intrahepatic, 5
Elevated alpha-fetoprotein, Hypoglycemia, Hepatic failure, Elevated circulating alanine aminotran... OMIM:617049
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Small for gestational age, Obesity, Failure to thrive, Diabetes mellitus, Polyphagia, Bulimia ORPHA:98793
Glycogen Storage Disease Ia
Hypoglycemia, Hyperlipidemia, Hepatomegaly, Hyperuricemia, Xanthelasma, Elevated hepatic transami... OMIM:232200
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Small for gestational age, Obesity, Failure to thrive, Diabetes mellitus, Polyphagia, Bulimia ORPHA:177904
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Small for gestational age, Obesity, Failure to thrive, Diabetes mellitus, Polyphagia, Bulimia ORPHA:177901
Smith-Lemli-Opitz Syndrome
Recurrent otitis media, Elevated 7-dehydrocholesterol, Eczema, Failure to thrive, Cholestatic liv... OMIM:270400
Prader-Willi Syndrome
Erysipelas, Periodontitis, Failure to thrive, Diabetes mellitus, Abdominal obesity, Polyphagia ORPHA:739
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Hepatic steatosis, Hepatic failure, Hyperlipidemia, Decreased plasma total carnitine, Elevated ci... ORPHA:228308
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Hypercalcemia, Obesity, Hypertriglyceridemia ORPHA:369837
Glycogen Storage Disease Ib
Hypoglycemia, Hyperlipidemia, Hepatomegaly, Hyperuricemia, Xanthelasma, Elevated hepatic transami... OMIM:232220
Prader-Willi-Like Syndrome
Small for gestational age, Obesity, Failure to thrive, Diabetes mellitus, Polyphagia, Bulimia ORPHA:398073
Wiedemann-Rautenstrauch Syndrome
Recurrent otitis media, Hepatic steatosis, Recurrent skin infections, Increased subcutaneous trun... ORPHA:3455
Diarrhea 10, Protein-Losing Enteropathy Type
Hyponatremia, Hypocalcemia, Hypoalbuminemia, Hypertriglyceridemia, Hypomagnesemia OMIM:618183
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Achilles tendon contracture, Microvesicular hepatic steatosis, Impaired oropharyngeal swallow res... ORPHA:404454
Intellectual Developmental Disorder, Autosomal Dominant 1
Polyphagia OMIM:156200
7Q11.23 Microduplication Syndrome
Obesity, Congenital diaphragmatic hernia, Inguinal hernia, Chronic otitis media, Polyphagia ORPHA:96121
X-Linked Acrogigantism
Polyphagia, Fasting hyperinsulinemia, Increased body mass index, Abnormal oral glucose tolerance ORPHA:300373
X-Linked Lymphoproliferative Disease
Increased circulating ferritin concentration, Hepatic failure, Hepatosplenomegaly, Colitis, Myoca... ORPHA:2442
Griscelli Syndrome Type 2
Hyperlipidemia, Hepatomegaly, Jaundice, Splenomegaly ORPHA:79477
Pseudohypoparathyroidism Type 1A
Hypocalcemic seizures, Enamel hypoplasia, Hypocalcemia, Obesity, Calcinosis, Hyperphosphatemia, H... ORPHA:79443
Nephrotic Syndrome, Type 1
Small for gestational age, Hypoproteinemia, Hyperlipidemia, Hypoalbuminemia OMIM:256300
19P13.12 Microdeletion Syndrome
Hepatic steatosis, Obesity, Hyperlipidemia, Arthrogryposis multiplex congenita ORPHA:254346
Angelman Syndrome
Polyphagia, Obesity, Dysphagia ORPHA:72
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Glycosuria, Large for gestational age, Hypoglycemia, Hepatomegaly, Hypouricemia, Diabetes mellitu... OMIM:616026
Multiple Endocrine Neoplasia, Type I
Subcutaneous lipoma, Hypoglycemia, Hypercalcemia, Insulinoma, Esophagitis, Pancreatic islet cell ... OMIM:131100
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
Polyphagia ORPHA:251028
Adnp Syndrome
Oral-pharyngeal dysphagia, Truncal obesity, Inguinal hernia, Polyphagia, Umbilical hernia ORPHA:404448
Craniopharyngioma
Polyphagia, Obesity, Type II diabetes mellitus ORPHA:54595
Alström Syndrome
Hepatic failure, Hepatitis, Otitis media, Abnormal liver physiology, Pancreatitis, Polyphagia, Re... ORPHA:64
Glycogen Storage Disease Ic
Hepatoblastoma, Hypoglycemia, Hyperlipidemia, Hepatomegaly, Chronic pancreatitis, Xanthelasma, Hy... OMIM:232240
Aromatase Deficiency
Hepatic steatosis, Hyperlipidemia, Insulin resistance, Obesity, Eunuchoid habitus, Type II diabet... ORPHA:91
Chromosome Xq26.3 Duplication Syndrome
Polyphagia OMIM:300942
Mandibuloacral Dysplasia With Type A Lipodystrophy
Flexion contracture, Insulin resistance, Hyperlipidemia ORPHA:90153
Gangliocytoma
Polyphagia ORPHA:251937
Triglyceride Deposit Cardiomyovasculopathy
Hyperlipidemia, Splenomegaly, Hepatomegaly, Elevated circulating creatine kinase concentration, D... ORPHA:565612
Schimke Immuno-Osseous Dysplasia
Hyperlipidemia, Small for gestational age, Failure to thrive, Pancreatitis, Minimal change glomer... ORPHA:1830
Chromosome 22Q13 Duplication Syndrome
Polyphagia OMIM:615538
Aapoaiv Amyloidosis
Elevated circulating creatinine concentration, Hyperlipidemia, Diabetes mellitus ORPHA:439232
1P36 Deletion Syndrome
Hepatic steatosis, Abnormality of the liver, Obesity, Failure to thrive, Dysphagia, Abnormality o... ORPHA:1606
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related
Polyphagia OMIM:607485
Combined Deficiency Of Factor V And Factor Viii
Hyperlipidemia, Hyperuricemia ORPHA:35909
Turner Syndrome
Recurrent otitis media, Hepatic steatosis, Hyperlipidemia, Atypical scarring of skin, Gastrointes... ORPHA:881
Mosaic Monosomy X
Recurrent otitis media, Hepatic steatosis, Hyperlipidemia, Atypical scarring of skin, Gastrointes... ORPHA:99228
Monosomy X
Recurrent otitis media, Hepatic steatosis, Hyperlipidemia, Atypical scarring of skin, Gastrointes... ORPHA:99226
Turner Syndrome Due To Structural X Chromosome Anomalies
Recurrent otitis media, Hepatic steatosis, Hyperlipidemia, Atypical scarring of skin, Gastrointes... ORPHA:99413
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Increased blood urea nitrogen, Hyperlipidemia, Elevated circulating creatinine concentration OMIM:235400
Chromosome 1P36 Deletion Syndrome, Distal
Obesity, Dysphagia, Polyphagia, Camptodactyly of finger, Camptodactyly OMIM:607872
Early-Onset Schizophrenia
Polyphagia ORPHA:96369
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Minimal change glomerulonephritis, Hyperlipidemia, Hypoalbuminemia ORPHA:567546
Woodhouse-Sakati Syndrome
Hyperlipidemia, Diabetes mellitus OMIM:241080
Woodhouse-Sakati Syndrome
Hyperlipidemia, Hyperinsulinemia, Insulin-resistant diabetes mellitus ORPHA:3464
Homozygous Familial Hypercholesterolemia
Hepatic steatosis, Hyperlipidemia, Increased LDL cholesterol concentration, Hypercholesterolemia ORPHA:391665

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 Acot11

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 Acot11.

No publications found that use IMPC mice or data for Acot11.

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MGI Allele Allele Type Produced
Acot11tm39137(L1L2_gt2) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Acot11tm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells
Acot11tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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