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, Type II diabetes mellitus, Polyphagia, Childhood-onset truncal obesity... ORPHA:71529
Lipodystrophy, Familial Partial, Type 1
Increased subcutaneous truncal adipose tissue, Increased adipose tissue around the neck, Increase... OMIM:608600
Glycogen Storage Disease Vi
Elevated circulating hepatic transaminase concentration, Hypoglycemia, Failure to thrive in infan... OMIM:232700
Lipase Deficiency, Combined
Type II diabetes mellitus, Lipodystrophy, Pancreatitis, Hypertriglyceridemia OMIM:246650
Lipodystrophy, Congenital Generalized, Type 3
Insulin resistance, Generalized lipodystrophy, Hepatosplenomegaly, Reduced subcutaneous adipose t... OMIM:612526
Plin1-Related Familial Partial Lipodystrophy
Hepatic fibrosis, Hyperinsulinemia, Reduced subcutaneous adipose tissue, Hepatic steatosis, Loss ... ORPHA:280356
Lipodystrophy, Familial Partial, Type 3
Insulin resistance, Insulin-resistant diabetes mellitus, Decreased HDL cholesterol concentration,... OMIM:604367
Lipodystrophy, Familial Partial, Type 4
Insulin resistance, Insulin-resistant diabetes mellitus, Hepatic steatosis, Lipodystrophy, Hypert... OMIM:613877
Morbid Obesity And Spermatogenic Failure
Insulin resistance, Increased LDL cholesterol concentration, Obesity, Type II diabetes mellitus, ... OMIM:615703
Coronary Artery Disease, Autosomal Dominant 2
Increased LDL cholesterol concentration, Glucose intolerance, Type II diabetes mellitus, Gout, Hy... OMIM:610947
Proteasome-Associated Autoinflammatory Syndrome 5
Failure to thrive in infancy, Splenomegaly, Skin rash, Hypertriglyceridemia, Hepatomegaly OMIM:619175
Hyperinsulinism Due To Hnf1A Deficiency
Small for gestational age, Maturity-onset diabetes of the young, Hyperinsulinemia, Hypoketotic hy... ORPHA:324575
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Hypoglycemia, Hypertriglyceridemia ORPHA:366
Obesity Due To Prohormone Convertase I Deficiency
Failure to thrive, Cholestasis, Hyperinsulinemia, Obesity, Polyphagia, Childhood-onset truncal ob... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Failure to thrive, Cholestasis, Hyperinsulinemia, Obesity, Polyphagia, Childhood-onset truncal ob... ORPHA:71526
Severe Neurodegenerative Syndrome With Lipodystrophy
Insulin resistance, Generalized lipodystrophy, Hyperinsulinemia, Reduced subcutaneous adipose tis... ORPHA:363400
Lipodystrophy, Familial Partial, Type 2
Increased adipose tissue around the neck, Increased facial adipose tissue, Insulin-resistant diab... OMIM:151660
Lipe-Related Familial Partial Lipodystrophy
Insulin resistance, Increased adipose tissue around the neck, Insulin-resistant diabetes mellitus... ORPHA:435660
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Diffuse pancreatic islet hyperplasia, Type I diabetes mellitus, Hyperinsulinemia, Hypoketotic hyp... ORPHA:276580
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Diffuse pancreatic islet hyperplasia, Type I diabetes mellitus, Hyperinsulinemia, Hypoketotic hyp... ORPHA:276575
Akt2-Related Familial Partial Lipodystrophy
Insulin resistance, Insulin-resistant diabetes mellitus, Increased intraabdominal fat, Hepatic st... ORPHA:79085
Hypertriglyceridemia, Transient Infantile
Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Failure to thrive, Hep... OMIM:614480
Hypertriglyceridemia 2
Hypercholesterolemia, Hypertriglyceridemia, Decreased HDL cholesterol concentration OMIM:619324
Cidec-Related Familial Partial Lipodystrophy
Insulin-resistant diabetes mellitus, Hepatic steatosis, Loss of gluteal subcutaneous adipose tiss... ORPHA:435651
Familial Apolipoprotein Gene Cluster Deletion Syndrome
Hypocholesterolemia, Hypotriglyceridemia, Decreased circulating apolipoprotein A-I concentration,... OMIM:620058
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Insulin resistance, Elevated circulating hepatic transaminase concentration, Hepatic steatosis, L... OMIM:615381
Hyperinsulinism Due To Ucp2 Deficiency
Diffuse pancreatic islet hyperplasia, Recurrent hypoglycemia, Hypoketotic hypoglycemia, Large for... ORPHA:276556
Lipodystrophy, Familial Partial, Type 5
Hepatic steatosis, Lipodystrophy, Hypertriglyceridemia, Hepatomegaly, Increased C-peptide level, ... OMIM:615238
Congenital Generalized Lipodystrophy
Insulin resistance, Failure to thrive, Hyperinsulinemia, Hepatic steatosis, Adipose tissue loss, ... ORPHA:528
Atherosclerosis Susceptibility
Hypertriglyceridemia, Decreased HDL cholesterol concentration OMIM:108725
Mandibuloacral Dysplasia
Insulin resistance, Increased circulating free fatty acid level, Increased subcutaneous truncal a... ORPHA:2457
Pparg-Related Familial Partial Lipodystrophy
Insulin resistance, Insulin-resistant diabetes mellitus, Loss of facial adipose tissue, Hepatic s... ORPHA:79083
Familial Partial Lipodystrophy, Dunnigan Type
Insulin resistance, Cellulitis, Hepatic steatosis, Splenomegaly, Lipodystrophy, Pancreatitis, Los... ORPHA:2348
Hypoalphalipoproteinemia, Primary, 1
Decreased HDL cholesterol concentration, Hypertriglyceridemia OMIM:604091
Encephalopathy, Progressive, With Or Without Lipodystrophy
Hepatomegaly, Hyperactivity, Hypertriglyceridemia OMIM:615924
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome
Hepatic steatosis, Insulin-resistant diabetes mellitus, Hypertriglyceridemia ORPHA:436182
Hypertriglyceridemia 1
Glucose intolerance, Hypertriglyceridemia, Increased VLDL cholesterol concentration OMIM:145750
Lipodystrophy, Familial Partial, Type 6
Insulin resistance, Abnormal circulating lipid concentration, Hyperlipidemia, Hepatic steatosis, ... OMIM:615980
Body Mass Index Quantitative Trait Locus 19
Insulin resistance, Hyperinsulinemia, Obesity, Hyperlipidemia, Polyphagia, Hypertriglyceridemia OMIM:617885
Glycogen Storage Disease Ixa1
Elevated circulating hepatic transaminase concentration, Hypoglycemia, Splenomegaly, Hyperuricemi... OMIM:306000
Lymphoproliferative Syndrome, X-Linked, 2
Inflammation of the large intestine, Folliculitis, Hepatitis, Increased circulating ferritin conc... OMIM:300635
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive
Elbow flexion contracture, Increased LDL cholesterol concentration, Elevated circulating creatine... OMIM:616516
Hyperlipoproteinemia, Type Ii, And Deafness
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia OMIM:144300
Temple Syndrome
Maturity-onset diabetes of the young, Recurrent otitis media, Obesity, Hypercholesterolemia, Trun... OMIM:616222
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Hepatomegaly, Hypocholesterolemia, Hypersplenism, Splenomegaly OMIM:610539
Acquired Generalized Lipodystrophy
Insulin resistance, Insulin-resistant diabetes mellitus, Abnormal circulating lipid concentration... ORPHA:79086
Fish-Eye Disease
Increased VLDL cholesterol concentration, Increased LDL cholesterol concentration, Decreased HDL ... OMIM:136120
Proteasome-Associated Autoinflammatory Syndrome 3
Elevated circulating hepatic transaminase concentration, Failure to thrive, Skin rash, Hypertrigl... OMIM:617591
Congenital Disorder Of Glycosylation, Type Il
Hypoalbuminemia, Failure to thrive, Hypocholesterolemia, Splenomegaly, Lipodystrophy, Hepatomegaly OMIM:608776
Bile Acid Synthesis Defect, Congenital, 1
Giant cell hepatitis, Intrahepatic cholestasis, Hepatic failure, Elevated circulating hepatic tra... OMIM:607765
Hemophagocytic Lymphohistiocytosis, Familial, 4
Increased circulating ferritin concentration, Skin rash, Splenomegaly, Jaundice, Hypertriglycerid... OMIM:603552
Niemann-Pick Disease, Type B
Increased LDL cholesterol concentration, Splenomegaly, Hypertriglyceridemia, Decreased HDL choles... OMIM:607616
Cholesteryl Ester Storage Disease
Hepatic failure, Splenomegaly, Cirrhosis, Hypercholesterolemia, Hypertriglyceridemia, Hepatomegal... ORPHA:75234
Citrullinemia Type Ii
Hypoalbuminemia, Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Decre... ORPHA:247585
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis
Failure to thrive, Hypocholesterolemia, Psoriasiform dermatitis, Decreased LDL cholesterol concen... OMIM:616834
Lipodystrophy, Congenital Generalized, Type 4
Insulin resistance, Recurrent pneumonia, Elevated circulating hepatic transaminase concentration,... OMIM:613327
Cholesteryl Ester Storage Disease
Hepatic bridging fibrosis, Acute hepatic failure, Increased LDL cholesterol concentration, Hepato... OMIM:278000
Glycogen Storage Disease Ixc
Elevated circulating hepatic transaminase concentration, Hypoglycemia, Splenomegaly, Increased he... OMIM:613027
Lipodystrophy, Congenital Generalized, Type 1
Elevated circulating hepatic transaminase concentration, Umbilical hernia, Hyperinsulinemia, Redu... OMIM:608594
Cholesterol-Ester Transfer Protein Deficiency
Hypotriglyceridemia, Increased HDL cholesterol concentration, Hyperlipidemia, Hyperlipoproteinemi... ORPHA:79506
Type 1 Diabetes Mellitus
Polydipsia, Hyperglycemia, Polyphagia, Decreased level of 1,5 anhydroglucitol in serum, Diabetes ... OMIM:222100
Chylomicron Retention Disease
Hypoalbuminemia, Hypotriglyceridemia, Failure to thrive, Hypocholesterolemia, Decreased LDL chole... OMIM:246700
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Insulin resistance, Increased adipose tissue around the neck, Increased facial adipose tissue, De... ORPHA:280365
Potocki-Lupski Syndrome
Failure to thrive, Oral-pharyngeal dysphagia, Hypocholesterolemia, Hyperactivity, Motor stereotyp... OMIM:610883
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2
Failure to thrive, Hyperleucinemia, Hyperammonemia, Decreased body weight, Polyphagia, Hypervalin... OMIM:620085
Citrullinemia, Type Ii, Adult-Onset
Hepatic fibrosis, Portal inflammation, Ballooning hepatocyte degeneration, Hyperammonemia, Hypera... OMIM:603471
Citrullinemia, Type Ii, Neonatal-Onset
Hypermethioninemia, Intrahepatic cholestasis, Portal fibrosis, Failure to thrive, Decreased HDL c... OMIM:605814
Hypercholesterolemia, Familial, 4
Decreased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia OMIM:603813
Lipodystrophy, Congenital Generalized, Type 2
Elevated circulating hepatic transaminase concentration, Umbilical hernia, Hyperinsulinemia, Elev... OMIM:269700
Fanconi-Bickel Syndrome
Postprandial hyperglycemia, Hepatic failure, Glycosuria, Failure to thrive, Elevated circulating ... ORPHA:2088
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Hepatic fibrosis, Portal fibrosis, Elevated circulating hepatic transaminase concentration, Failu... ORPHA:369
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Aggressive behavior, Hyperinsulinemia, Obesity, Polyphagia ORPHA:329249
Obesity
Decreased resting energy expenditure, Obesity, Increased waist to hip ratio OMIM:601665
Obesity Due To Sim1 Deficiency
Hyperinsulinemia, Glucose intolerance, Obesity, Polyphagia, Attention deficit hyperactivity disorder ORPHA:369873
Obesity And Hypopigmentation
Polyphagia, Hyperinsulinemia, Obesity, Hepatic steatosis OMIM:620195
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Splenomegaly, Panniculitis, Hypertriglyceridemia, Increased circulating ferritin concentration OMIM:618398
Hemophagocytic Lymphohistiocytosis, Familial, 3
Hepatosplenomegaly, Hypertriglyceridemia OMIM:608898
Smith-Magenis Syndrome
Head-banging, Onychotillomania, Self-mutilation, Increased body weight, Hypercholesterolemia, Hyp... OMIM:182290
Huntington Disease
Decreased body mass index, Abnormal circulating cholesterol concentration, Oral-pharyngeal dyspha... ORPHA:399
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Elbow flexion contracture, Increased LDL cholesterol concentration, Obesity, Decreased cervical s... ORPHA:98855
Cholestasis-Lymphedema Syndrome
Hyperlipidemia, Splenomegaly, Portal hypertension, Biliary tract abnormality, Neonatal cholestati... ORPHA:1414
Immunodeficiency 109 With Lymphoproliferation
Splenomegaly, Bronchiectasis, Recurrent sinusitis, Hypertriglyceridemia OMIM:620282
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Increased circulating ferritin concentration, Hepatosplenomegaly, Splenomegaly, Recurrent sinusit... OMIM:613101
Obesity Due To Congenital Leptin Deficiency
Insulin-resistant diabetes mellitus, Hyperinsulinemia, Obesity, Polyphagia, Hypertriglyceridemia ORPHA:66628
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Recurrent hypoglycemia... ORPHA:79240
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hepatic fibrosis, Portal fibrosis, Elevated circulating hepatic transaminase concentration, Failu... ORPHA:264580
X-Linked Emery-Dreifuss Muscular Dystrophy
Elbow flexion contracture, Increased LDL cholesterol concentration, Obesity, Decreased cervical s... ORPHA:98863
Peroxisome Biogenesis Disorder 3B
Failure to thrive, Elevated circulating phytanic acid concentration, Hypocholesterolemia, Hepatom... OMIM:266510
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Elbow flexion contracture, Increased LDL cholesterol concentration, Obesity, Decreased cervical s... ORPHA:98853
Emery-Dreifuss Muscular Dystrophy
Elbow flexion contracture, Increased LDL cholesterol concentration, Obesity, Decreased cervical s... ORPHA:261
Glycosylphosphatidylinositol Biosynthesis Defect 17
Osteomyelitis, Overfriendliness, Aggressive behavior, Hypertriglyceridemia, Chronic otitis media OMIM:618010
Dysbetalipoproteinemia
Decreased HDL cholesterol concentration, Xanthelasma, Increased LDL cholesterol concentration, Go... ORPHA:412
Obesity Due To Leptin Receptor Gene Deficiency
Insulin-resistant diabetes mellitus, Hyperinsulinemia, Obesity, Polyphagia, Hypertriglyceridemia ORPHA:179494
Squalene Synthase Deficiency
Elbow flexion contracture, Hypocholesterolemia, Failure to thrive in infancy, Knee flexion contra... OMIM:618156
Lecithin:Cholesterol Acyltransferase Deficiency
Hypertriglyceridemia, Decreased HDL cholesterol concentration OMIM:245900
Familial Chylomicronemia Syndrome
Failure to thrive, Increased circulating chylomicron concentration, Hepatosplenomegaly, Hyperlipi... ORPHA:444490
Hypobetalipoproteinemia, Familial, 1
Decreased HDL cholesterol concentration, Hypocholesterolemia, Elevated circulating aspartate amin... OMIM:615558
Temple Syndrome
Recurrent hypoglycemia, Obesity, Type II diabetes mellitus, Polyphagia, Small for gestational age ORPHA:254516
Protoporphyria, Erythropoietic, 1
Hepatic failure, Cholelithiasis, Eczematoid dermatitis, Hypertriglyceridemia OMIM:177000
Immunodeficiency 114, Folate-Responsive
Atopic dermatitis, Increased circulating ferritin concentration, Splenomegaly, Hypertriglyceridem... OMIM:620603
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Acute hepatic steatosis, Hepatitis, Cholestasis, Increased LDL cholesterol concentration, Obesity... ORPHA:209902
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Cholestasis, Obesity, Hyperbilirubinemia, Decreased circulating cortisol level, Polyphagia, Hypog... OMIM:609734
Body Mass Index Quantitative Trait Locus 20
Polyphagia, Hyperinsulinemia, Obesity OMIM:618406
Glycogen Storage Disease Iii
Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Hypoglycemia, Hyperlip... OMIM:232400
Abdominal Obesity-Metabolic Syndrome 4
Decreased HDL cholesterol concentration, Increased LDL cholesterol concentration, Obesity, Type I... OMIM:618620
Insulinoma
Abnormality of the pancreatic islet cells, Fasting hyperinsulinemia, Recurrent hypoglycemia, Hype... ORPHA:97279
Cholestasis-Lymphedema Syndrome
Elevated circulating hepatic transaminase concentration, Erysipelas, Hyperlipidemia, Splenomegaly... OMIM:214900
Lipodystrophy, Familial Partial, Type 7
Insulin resistance, Type I diabetes mellitus, Failure to thrive, Decreased adipose tissue around ... OMIM:606721
Congenital Disorder Of Glycosylation, Type Ia
Hypoalbuminemia, Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Failu... OMIM:212065
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hypoalbuminemia, Failure to thrive, Increased circulating ferritin concentration, Increased total... OMIM:267700
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Cholestasis, Increased LDL cholesterol concentration, Hyperbilirubinemia, Hyperthreoninemia, Hepa... ORPHA:247598
Leptin Receptor Deficiency
Obesity, Abnormal eating behavior, Aggressive behavior, Polyphagia, Diabetes mellitus OMIM:614963
Seckel Syndrome 10
Insulin resistance, Glycosuria, Elevated circulating aspartate aminotransferase concentration, Gl... OMIM:617253
Pancreatic Lipase Deficiency
Steatorrhea, Hypocholesterolemia OMIM:614338
Rajab Interstitial Lung Disease With Brain Calcifications 2
Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Hepatosplenomegaly, Hep... OMIM:619013
H Syndrome
Hepatosplenomegaly, Psoriasiform dermatitis, Chronic rhinitis, Hernia, Lipodystrophy, Hypertrigly... ORPHA:168569
Abdominal Obesity-Metabolic Syndrome 3
Hyperglycemia, Increased LDL cholesterol concentration, Type II diabetes mellitus, Abdominal obes... OMIM:615812
Alg12-Cdg
Hypoalbuminemia, Recurrent pneumonia, Elevated circulating hepatic transaminase concentration, Fa... ORPHA:79324
Hyperlipoproteinemia, Type Id
Failure to thrive, Increased circulating chylomicron concentration, Hypertriglyceridemia, Splenom... OMIM:615947
Hyperinsulinemic Hypoglycemia, Familial, 8
Hypoglycemia, Hyperinsulinemia, Hyperammonemia, Attention deficit hyperactivity disorder, Hyperch... OMIM:620211
Obesity, Hyperphagia, And Developmental Delay
Polyphagia, Obesity, Motor stereotypy OMIM:613886
Chylomicron Retention Disease
Elevated circulating hepatic transaminase concentration, Failure to thrive, Hypocholesterolemia, ... ORPHA:71
Leptin Deficiency Or Dysfunction
Polyphagia, Recurrent pneumonia, Obesity OMIM:614962
Hypotonia-Cystinuria Syndrome
Polyphagia, Neonatal hypoglycemia, Hypocalcemia, Failure to thrive OMIM:606407
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Hepatic failure, Elevated circulating hepatic transaminase concentration, Increased circulating f... ORPHA:158057
Intellectual Developmental Disorder, Autosomal Dominant 39
Polyphagia, Obesity, Aggressive behavior, Self-mutilation OMIM:616521
Schaaf-Yang Syndrome
Failure to thrive in infancy, Obesity, Polyphagia, Skin-picking, Camptodactyly, Flexion contractu... OMIM:615547
Familial Hemophagocytic Lymphohistiocytosis
Hypoalbuminemia, Cholestatic liver disease, Elevated circulating hepatic transaminase concentrati... ORPHA:540
Macrophage Activation Syndrome
Hypoalbuminemia, Hepatitis, Decreased liver function, Increased circulating ferritin concentratio... ORPHA:158061
Mandibuloacral Dysplasia With Type B Lipodystrophy
Insulin-resistant diabetes mellitus, Generalized lipodystrophy, Hyperglycemia, Decreased adipose ... OMIM:608612
Tangier Disease
Hypertriglyceridemia, Splenomegaly, Elevated circulating apolipoprotein A-II concentration, Decre... OMIM:205400
Smith-Magenis Syndrome
Self-injurious behavior, Failure to thrive in infancy, Obesity, Attention deficit hyperactivity d... ORPHA:819
Pick Disease Of Brain
Polyphagia, Inappropriate laughter, Motor stereotypy, Disinhibition OMIM:172700
14Q11.2 Microduplication Syndrome
Attention deficit hyperactivity disorder, Polyphagia, Obesity, Aggressive behavior ORPHA:261229
Bardet-Biedl Syndrome 22
Polyphagia, Obesity, Large for gestational age OMIM:617119
Bardet-Biedl Syndrome 9
Polydipsia, Hyperglycemia, Obesity, Polyphagia, Truncal obesity OMIM:615986
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Postprandial hyperglycemia, Elevated circulating hepatic transaminase concentration, Glycosuria, ... ORPHA:2089
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Failure to thrive, Incr... OMIM:603553
Secondary Short Bowel Syndrome
Failure to thrive, Cholestasis, Polyphagia, Low plasma citrulline, Enterocolitis, Weight loss, St... ORPHA:95427
Diarrhea 7, Protein-Losing Enteropathy Type
Hypoalbuminemia, Hyperlipidemia, Failure to thrive, Hypercholesterolemia OMIM:615863
Mandibuloacral Dysplasia With Type A Lipodystrophy
Increased adipose tissue around the neck, Increased facial adipose tissue, Insulin-resistant diab... OMIM:248370
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Polyphagia, Obesity, Inappropriate laughter, Hyperactivity ORPHA:411515
Hepatic Lipase Deficiency
Increased HDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia OMIM:614025
Proteasome-Associated Autoinflammatory Syndrome 1
Recurrent otitis media, Flexion contracture of finger, Erythema nodosum, Hepatomegaly, Elevated c... OMIM:256040
Idiopathic Steroid-Resistant Nephrotic Syndrome
Hypoalbuminemia, Minimal change glomerulonephritis, Abnormal circulating lipid concentration, Per... ORPHA:567548
Kleine-Levin Syndrome
Polydipsia, Abnormal eating behavior, Sweet craving, Polyphagia, Repetitive compulsive behavior, ... ORPHA:33543
Apolipoprotein C-Ii Deficiency
Increased circulating chylomicron concentration, Splenomegaly, Decreased circulating apolipoprote... OMIM:207750
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Accessory spleen, Cholestatic liver disease, Failure to thrive, Hypoglycemia, Polysplenia, Exocri... OMIM:619418
Maternal Uniparental Disomy Of Chromosome 4
Type I diabetes mellitus, Hypocholesterolemia, Abetalipoproteinemia, Elevated circulating creatin... ORPHA:96180
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Inflammation of the large intestine, Periodontitis, Failure to thrive, Hypoglycemia, Xanthelasma,... ORPHA:79259
6Q16 Microdeletion Syndrome
Abnormal temper tantrums, Polyphagia, Obesity ORPHA:171829
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency
Hyperuricemia, Hyperlipidemia, Hypoglycemia ORPHA:364
Congenital Analbuminemia
Hypoalbuminemia, Obesity, Hyperlipidemia, Lipodystrophy, Hypercholesterolemia, Hypoproteinemia, S... ORPHA:86816
Hypotonia-Cystinuria Syndrome
Polyphagia, Failure to thrive ORPHA:163690
Familial Multiple Lipomatosis
Insulin resistance, Lipodystrophy, Hyperlipidemia, Increased adipose tissue ORPHA:199276
Prader-Willi Syndrome Due To Imprinting Mutation
Polyphagia, Obesity ORPHA:177910
Alstrom Syndrome
Nephritis, Recurrent pneumonia, Elevated circulating hepatic transaminase concentration, Insulin-... OMIM:203800
Reni Syndrome
Hypoalbuminemia, Hypoglycemia, Hypertriglyceridemia OMIM:617575
Intellectual Developmental Disorder, Autosomal Dominant 72
Attention deficit hyperactivity disorder, Polyphagia, Obesity, Overfriendliness OMIM:620439
Joubert Syndrome 10
Polyphagia, Obesity, Frequent temper tantrums, Decreased body weight OMIM:300804
Frontotemporal Dementia
Polyphagia, Inappropriate laughter, Disinhibition OMIM:600274
Lysinuric Protein Intolerance
Increased LDL cholesterol concentration, Hepatosplenomegaly, Hyperglycinemia, Oral aversion, Cirr... ORPHA:470
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal
Hepatomegaly, Hypocholesterolemia OMIM:618810
Immunodeficiency 97 With Autoinflammation
Eczematoid dermatitis, Increased circulating ferritin concentration, Recurrent otitis media, Hepa... OMIM:619802
Cebalid Syndrome
Polyphagia, Congenital diaphragmatic hernia OMIM:618774
Abetalipoproteinemia
Hypoalbuminemia, Hepatic fibrosis, Hypotriglyceridemia, Elevated circulating hepatic transaminase... ORPHA:14
Prader-Willi Syndrome
Self-injurious behavior, Class III obesity, Decreased HDL cholesterol concentration, Failure to t... OMIM:176270
Neutral Lipid Storage Disease With Myopathy
Elevated circulating hepatic transaminase concentration, Chronic pancreatitis, Hepatic steatosis,... OMIM:610717
Hyperlipidemia Due To Hepatic Triacylglycerol Lipase Deficiency
Increased HDL cholesterol concentration, Hypertriglyceridemia ORPHA:140905
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Hyperglycemia, Hyperlipidemia, Mildly elevated creatine kinase OMIM:604484
2Q23.1 Microdeletion Syndrome
Self-injurious behavior, Polyphagia, Motor stereotypy, Hyperactivity, Paroxysmal bursts of laughter ORPHA:228402
Renal Glucosuria
Polyphagia, Polydipsia, Glycosuria OMIM:233100
Kleine-Levin Hibernation Syndrome
Polyphagia OMIM:148840
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Increased circulating cortisol level, Hyperaldosteronism, Dorsocervical fat pad, Glucose intolera... ORPHA:189427
Pediatric-Onset Graves Disease
Elevated circulating hepatic transaminase concentration, Keratitis, Failure to thrive, Polydipsia... ORPHA:525731
Gaisböck Syndrome
Obesity, Gout, Cholecystitis, Hyperuricemia, Hypercholesterolemia, Hypertriglyceridemia, Hyperpro... ORPHA:90041
Lmna-Related Cardiocutaneous Progeria Syndrome
Hypercholesterolemia, Abnormal intrahepatic bile duct morphology, Lipoatrophy, Hypertriglyceridemia ORPHA:363618
Werner Syndrome
Elevated circulating aspartate aminotransferase concentration, Elevated circulating alanine amino... OMIM:277700
Lcat Deficiency
Hypertriglyceridemia, Decreased circulating apolipoprotein A-I concentration, Decreased HDL chole... ORPHA:650
Paternal Uniparental Disomy Of Chromosome 1
Abnormal dental enamel morphology, Obesity, Polyphagia, Increased blood urea nitrogen, Membranopr... ORPHA:251004
Hyperlipoproteinemia, Type I
Lactescent serum, Increased circulating chylomicron concentration, Hepatosplenomegaly, Hyperlipid... OMIM:238600
Lysosomal Acid Lipase Deficiency
Hepatic fibrosis, Hepatic failure, Elevated circulating hepatic transaminase concentration, Failu... ORPHA:275761
Classical-Like Ehlers-Danlos Syndrome Type 2
Cellulitis, Widened atrophic scar, Periodontitis, Umbilical hernia, Inguinal hernia, Ventral hern... ORPHA:536532
Nephrotic Syndrome, Type 2
Hypoalbuminemia, Hyperlipidemia OMIM:600995
Methanol Poisoning
Hyperlipidemia, Addictive alcohol use, Type I diabetes mellitus, Type II diabetes mellitus ORPHA:31825
Graves Disease
Polyphagia, Weight loss, Hyperactivity OMIM:275000
Chronic Visceral Acid Sphingomyelinase Deficiency
Cholelithiasis, Hepatic failure, Abnormal circulating lipid concentration, Decreased HDL choleste... ORPHA:77293
Man1B1-Cdg
Polyphagia, Truncal obesity ORPHA:397941
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Hepatic failure, Increased hepatic echogenicity, Hypoglycemia, Cyanosis, Hepatic steatosis, Low p... OMIM:261680
Microtriplication 11Q24.1
Bruxism, Obesity, Hyperlipidemia ORPHA:289522
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Self-injurious behavior, Elevated circulating hepatic transaminase concentration, Polydipsia, Hyp... ORPHA:293987
Mandibuloacral Dysplasia Progeroid Syndrome
Elevated circulating hepatic transaminase concentration, Generalized lipodystrophy, Glucose intol... OMIM:619127
Carnitine Palmitoyl Transferase 1A Deficiency
Hepatic failure, Elevated circulating hepatic transaminase concentration, Hypoglycemia, Transient... ORPHA:156
Congenital Disorder Of Glycosylation, Type Iiaa
Hepatic fibrosis, Hepatic failure, Nodular regenerative hyperplasia of liver, Biliary cirrhosis, ... OMIM:620454
Neutral Lipid Storage Myopathy
Elevated circulating hepatic transaminase concentration, Abnormal circulating creatine kinase con... ORPHA:98908
Magel2-Related Prader-Willi-Like Syndrome
Abnormal temper tantrums, Failure to thrive, Type II diabetes mellitus, Increased body weight, Po... ORPHA:398069
Neutral Lipid Storage Disease With Ichthyosis
Elevated circulating hepatic transaminase concentration, Micronodular cirrhosis, Abnormal circula... ORPHA:98907
Mody
Glycosuria, Insulin-resistant diabetes mellitus, Pancreatic hypoplasia, Exocrine pancreatic insuf... ORPHA:552
Ataxia With Vitamin E Deficiency
Xanthelasma, Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia OMIM:277460
Hyperlipidemia, Familial Combined, 3
Xanthelasma, Increased LDL cholesterol concentration, Hyperlipidemia, Increased VLDL cholesterol ... OMIM:144250
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Hypoplastic spleen, Increased circulating ferritin concentration, Hypertriglyceridemia OMIM:619313
Dubowitz Syndrome
Eczematoid dermatitis, Hypocholesterolemia, Inguinal hernia, Otitis media, Hyperactivity OMIM:223370
Atypical Werner Syndrome
Chondrocalcinosis, Glycosuria, Insulin-resistant diabetes mellitus, Fasting hyperinsulinemia, Fai... ORPHA:79474
Insulin-Resistance Syndrome Type B
Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Type II diabetes mellitus, ... ORPHA:2298
Luscan-Lumish Syndrome
Recurrent otitis media, Polyphagia, Obesity, Aggressive behavior OMIM:616831
Carnitine Palmitoyltransferase I Deficiency
Elevated circulating hepatic transaminase concentration, Elevated circulating aspartate aminotran... OMIM:255120
Angelman Syndrome
Self-injurious behavior, Obesity, Inappropriate laughter, Recurrent hand flapping, Polyphagia, Ag... ORPHA:72
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Self-injurious behavior, Abnormal temper tantrums, Failure to thrive, Bulimia, Obesity, Obsessive... ORPHA:98793
Parenteral Nutrition-Associated Cholestasis
Hepatic fibrosis, Cholelithiasis, Hepatic failure, Elevated circulating hepatic transaminase conc... ORPHA:567983
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Self-injurious behavior, Abnormal temper tantrums, Failure to thrive, Bulimia, Obesity, Obsessive... ORPHA:177904
Glycerol Kinase Deficiency
Hypoglycemia, Chronic pancreatitis, Hypertriglyceridemia, Hyperglycerolemia, Small for gestationa... OMIM:307030
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Self-injurious behavior, Abnormal temper tantrums, Failure to thrive, Bulimia, Obesity, Obsessive... ORPHA:177901
Mandibuloacral Dysplasia With Type B Lipodystrophy
Insulin resistance, Generalized lipodystrophy, Hyperlipidemia, Calcinosis ORPHA:90154
Xp21 Deletion Syndrome
Recurrent otitis media, Elevated circulating creatine kinase concentration, Hypertriglyceridemia ORPHA:261476
Sim1-Related Prader-Willi-Like Syndrome
Abnormal temper tantrums, Failure to thrive, Obesity, Type II diabetes mellitus, Polyphagia, Skin... ORPHA:398079
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Self-injurious behavior, Abnormal temper tantrums, Failure to thrive, Bulimia, Obesity, Polyphagi... ORPHA:98754
Secondary Intestinal Lymphangiectasia
Hypoalbuminemia, Secondary hyperaldosteronism, Reduced circulating transferrin concentration, Hyp... ORPHA:90363
Hemophagocytic Syndrome Associated With An Infection
Elevated circulating hepatic transaminase concentration, Increased circulating ferritin concentra... ORPHA:158048
Glycogen Storage Disease Ia
Elevated circulating hepatic transaminase concentration, Hypoglycemia, Xanthelasma, Gout, Hyperli... OMIM:232200
Immunodeficiency 87 And Autoimmunity
Atrophic gastritis, Hepatic failure, Small for gestational age, Cholestasis, Elevated circulating... OMIM:619573
Trisomy 18P
Polyphagia, Attention deficit hyperactivity disorder ORPHA:1715
19P13.12 Microdeletion Syndrome
Self-injurious behavior, Obesity, Hyperlipidemia, Hepatic steatosis, Hyperactivity, Arthrogryposi... ORPHA:254346
Focal Segmental Glomerulosclerosis 1
Hypoalbuminemia, Hyperlipidemia OMIM:603278
Kaufman Oculocerebrofacial Syndrome
Hypocholesterolemia, Failure to thrive OMIM:244450
Griscelli Syndrome Type 1
Hyperlipidemia ORPHA:79476
Intellectual Developmental Disorder, Autosomal Dominant 1
Self-injurious behavior, Bruxism, Inappropriate laughter, Recurrent hand flapping, Polyphagia, Ag... OMIM:156200
Carnitine Palmitoyltransferase Ii Deficiency
Elevated circulating acylcarnitine concentration, Hepatic failure, Hypoketotic hypoglycemia, Decr... ORPHA:157
Smith-Lemli-Opitz Syndrome
Hypoalbuminemia, Cholestatic liver disease, Eczematoid dermatitis, Failure to thrive, Recurrent o... OMIM:270400
Chédiak-Higashi Syndrome
Elevated circulating hepatic transaminase concentration, Periodontitis, Decreased liver function,... ORPHA:167
7Q11.23 Microduplication Syndrome
Self-injurious behavior, Obesity, Congenital diaphragmatic hernia, Inguinal hernia, Aggressive be... ORPHA:96121
Wagro Syndrome
Obesity, Polyphagia, Aggressive behavior, Compulsive behaviors, Agitation OMIM:612469
Prader-Willi Syndrome
Periodontitis, Erysipelas, Failure to thrive, Polyphagia, Attention deficit hyperactivity disorde... ORPHA:739
Tangier Disease
Hypocholesterolemia, Hepatosplenomegaly, Hypertriglyceridemia ORPHA:31150
Cholestasis, Progressive Familial Intrahepatic, 5
Hepatic failure, Failure to thrive, Hypoglycemia, Elevated circulating aspartate aminotransferase... OMIM:617049
Glycogen Storage Disease Ib
Inflammation of the large intestine, Elevated circulating hepatic transaminase concentration, Hyp... OMIM:232220
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Elevated circulating acylcarnitine concentration, Hepatic failure, Hypoketotic hypoglycemia, Decr... ORPHA:228308
Griscelli Syndrome Type 2
Hepatomegaly, Jaundice, Hyperlipidemia, Splenomegaly ORPHA:79477
Alagille Syndrome 1
Hepatic failure, Elevated circulating hepatic transaminase concentration, Failure to thrive, Chol... OMIM:118450
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal
Hypercholesterolemia, Hypertriglyceridemia OMIM:610644
Pseudohypoparathyroidism Type 1C
Hyperphosphatemia, Hypocalcemic tetany, Obesity, Hypocalcemia, Polyphagia, Enamel hypoplasia, Cal... ORPHA:79444
Adnp Syndrome
Abnormal temper tantrums, Oral-pharyngeal dysphagia, Umbilical hernia, Inguinal hernia, Polyphagi... ORPHA:404448
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Nodular regenerative hyperplasia of liver, Hypotriglyceridemia, Elevated circulating hepatic tran... ORPHA:404454
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
Polyphagia, Restlessness, Aggressive behavior, Self-mutilation ORPHA:251028
Weaver Syndrome
Joint contracture of the hand, Umbilical hernia, Inguinal hernia, Polyphagia, Camptodactyly OMIM:277590
Bardet-Biedl Syndrome
Insulin resistance, Hepatic fibrosis, Inflammation of the large intestine, Elevated circulating h... ORPHA:110
Nephrotic Syndrome, Type 1
Hypoalbuminemia, Hyperlipidemia, Hypoproteinemia, Small for gestational age OMIM:256300
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Obesity, Hypercalcemia, Hypertriglyceridemia ORPHA:369837
Diarrhea 10, Protein-Losing Enteropathy Type
Hypoalbuminemia, Hypomagnesemia, Hypocalcemia, Hyponatremia, Hypertriglyceridemia OMIM:618183
Wiedemann-Rautenstrauch Syndrome
Increased subcutaneous truncal adipose tissue, Failure to thrive, Camptodactyly of finger, Recurr... ORPHA:3455
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related
Disinhibition, Polyphagia, Repetitive compulsive behavior, Agitation, Hypersexuality OMIM:607485
X-Linked Acrogigantism
Abnormal oral glucose tolerance, Polyphagia, Increased body mass index, Fasting hyperinsulinemia ORPHA:300373
Wiedemann-Rautenstrauch Syndrome
Pneumonia, Failure to thrive, Absence of subcutaneous fat, Reduced subcutaneous adipose tissue, D... OMIM:264090
Pseudohypoparathyroidism Type 1A
Hyperphosphatemia, Hypocalcemic tetany, Obesity, Hypocalcemia, Polyphagia, Enamel hypoplasia, Cal... ORPHA:79443
Glycogen Storage Disease Ic
Inflammation of the large intestine, Hypoglycemia, Xanthelasma, Gout, Chronic pancreatitis, Hyper... OMIM:232240
Chromosome 22Q13 Duplication Syndrome
Polyphagia, Attention deficit hyperactivity disorder, Impulsivity OMIM:615538
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Self-injurious behavior, Recurrent pneumonia, Fixated interests, Eczematoid dermatitis, Umbilical... OMIM:620330
Craniopharyngioma
Polyphagia, Obesity, Type II diabetes mellitus ORPHA:54595
Helsmoortel-Van Der Aa Syndrome
Failure to thrive, Bruxism, Obesity, Polyphagia, Attention deficit hyperactivity disorder, Dyspha... OMIM:615873
Aromatase Deficiency
Insulin resistance, Obesity, Hyperlipidemia, Type II diabetes mellitus, Hepatic steatosis, Eunuch... ORPHA:91
Mandibuloacral Dysplasia With Type A Lipodystrophy
Insulin resistance, Flexion contracture, Hyperlipidemia ORPHA:90153
Aapoaiv Amyloidosis
Elevated circulating creatinine concentration, Hyperlipidemia, Diabetes mellitus ORPHA:439232
Alström Syndrome
Hyperinsulinemia, Hepatosplenomegaly, Type II diabetes mellitus, Hepatic steatosis, Polyphagia, C... ORPHA:64
Schimke Immuno-Osseous Dysplasia
Minimal change glomerulonephritis, Failure to thrive, Hyperlipidemia, Pancreatitis, Small for ges... ORPHA:1830
Primary Triglyceride Deposit Cardiomyovasculopathy
Inflammatory abnormality of the skin, Hyperlipidemia, Splenomegaly, Elevated circulating creatine... ORPHA:565612
Chromosome Xq26.3 Duplication Syndrome
Polyphagia OMIM:300942
1P36 Deletion Syndrome
Self-injurious behavior, Annular pancreas, Failure to thrive, Camptodactyly of finger, Abnormalit... ORPHA:1606
Gangliocytoma
Polyphagia ORPHA:251937
Combined Deficiency Of Factor V And Factor Viii
Hyperlipidemia, Hyperuricemia ORPHA:35909
Chromosome 1P36 Deletion Syndrome, Distal
Camptodactyly of finger, Obesity, Oppositional defiant disorder, Self-mutilation, Aggressive beha... OMIM:607872
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Elevated circulating creatinine concentration, Hyperlipidemia, Increased blood urea nitrogen OMIM:235400
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Hypoalbuminemia, Minimal change glomerulonephritis, Hyperlipidemia ORPHA:567546
Fabry Disease
Abnormal circulating lipid concentration, Hyperlipidemia, Arthritis, Anorexia ORPHA:324
Woodhouse-Sakati Syndrome
Hyperlipidemia, Diabetes mellitus OMIM:241080
Woodhouse-Sakati Syndrome
Hyperinsulinemia, Hyperlipidemia, Insulin-resistant diabetes mellitus ORPHA:3464
Homozygous Familial Hypercholesterolemia
Hyperlipidemia, Increased LDL cholesterol concentration, Hypercholesterolemia, Hepatic steatosis 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.

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
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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