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Gene: Acot5 MGI:2384969

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Gene Summary

Name:
acyl-CoA thioesterase 5
Synonyms:
PTE-Ic

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

Phenotype System Allele Zyg Sex Life Stage P Value
increased red blood cell distribution width Acot5tm1a(KOMP)Wtsi HOM Early adult 5.31×10-05
increased circulating triglyceride level Acot5tm1a(KOMP)Wtsi HOM Early adult 2.59×10-05

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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.

X-ray

XRay Images Forepaw

13 Images

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X-ray

XRay Images Whole Body Dorso Ventral

14 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

16 Images

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X-ray

XRay Images Whole Body Lateral Orientation

13 Images

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X-ray

XRay Images Skull Lateral Orientation

15 Images

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DSS Histology

Images

8 Images

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Legacy Phenotype Associated Images
Acot5tm1a(KOMP)Wtsi
HOM, Female, WTSI
Acot5tm1a(KOMP)Wtsi
HOM, Female, WTSI
Acot5tm1a(KOMP)Wtsi
HOM, Female, WTSI
Acot5tm1a(KOMP)Wtsi
HOM, Male, WTSI
Acot5tm1a(KOMP)Wtsi
HOM, Male, WTSI

View all 71 images

Acot5tm1a(KOMP)Wtsi
Fused cornea and lens, HOM, Female, WTSI

Human diseases caused by Acot5 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 Acot5 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Hypertriglyceridemia 2
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia OMIM:619324
Atherosclerosis Susceptibility
Hypertriglyceridemia, Decreased HDL cholesterol concentration OMIM:108725
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin
Anisocytosis, Anemia of inadequate production, Oval macrocytosis, Poikilocytosis OMIM:603529
Iron-Refractory Iron Deficiency Anemia
Elevated circulating hepcidin concentration, Anisocytosis, Hypochromic microcytic anemia, Poikilo... OMIM:206200
Atr-16 syndrome
Abnormal erythrocyte morphology DECIPHER:65
Diamond-Blackfan Anemia 19
Erythroid hypoplasia, Anemia, Steroid-responsive anemia OMIM:618312
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Anemia, Congenital hemolytic anemia, Splenomegaly, Unconjugated hyperbilirubinemia, Elevated tran... ORPHA:766
Fish-Eye Disease
Decreased HDL cholesterol concentration, Increased LDL cholesterol concentration, Hypertriglyceri... OMIM:136120
Hemophagocytic Lymphohistiocytosis, Familial, 3
Anemia, Hepatosplenomegaly, Hemophagocytosis, Granulocytopenia, Hypertriglyceridemia OMIM:608898
Hemoglobin E-Beta-Thalassemia Syndrome
Anemia, Increased circulating ferritin concentration, Abnormal hemoglobin ORPHA:231249
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Poikilocytosis, Anisocytosis, Hypochromic anemia, Macrothrombocytopenia, Anemia of inadequate pro... ORPHA:67044
Hypercholesterolemia, Familial, 4
Hypertriglyceridemia, Decreased LDL cholesterol concentration, Hypercholesterolemia OMIM:603813
Papular Xanthoma
Histiocytosis, Hyperlipidemia ORPHA:158008
Hyperlipoproteinemia, Type Ii, And Deafness
Increased LDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia OMIM:144300
Proteasome-Associated Autoinflammatory Syndrome 5
Hypertriglyceridemia, Splenomegaly OMIM:619175
Lecithin:Cholesterol Acyltransferase Deficiency
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hemolytic anemia, Normochromic anemia OMIM:245900
Overhydrated Hereditary Stomatocytosis
Stomatocytosis, Hemolytic anemia, Abnormal mean corpuscular volume, Decreased mean corpuscular he... ORPHA:3203
Anemia, Congenital Dyserythropoietic, Type Ib
Anemia, Erythroid hyperplasia, Reticulocytosis, Poikilocytosis, Anisocytosis, Anemia of inadequat... OMIM:615631
Glycogen Storage Disease Vi
Hypertriglyceridemia, Hyperlipidemia, Hypercholesterolemia OMIM:232700
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Anemia, Erythroid hyperplasia, Hepatosplenomegaly, Decreased mean corpuscular volume, Anisocytosi... OMIM:616860
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Hypertriglyceridemia ORPHA:366
Anemia, Sideroblastic, 2, Pyridoxine-Refractory
Anemia, Elevated transferrin saturation, Sideroblastic anemia, Decreased mean corpuscular volume,... OMIM:205950
Glutathione Peroxidase Deficiency
Compensated hemolytic anemia, Neonatal hyperbilirubinemia, Heinz bodies OMIM:614164
Niemann-Pick Disease, Type B
Sea-blue histiocytosis, Anemia, Increased LDL cholesterol concentration, Decreased HDL cholestero... OMIM:607616
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality
Leukopenia, Acute myeloid leukemia, Abnormality of neutrophil morphology, Erythroid hypoplasia, A... ORPHA:86841
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Elliptocytosis, Poikilocytosis, Anisocytosis, Macrocytic anemia, Thrombocytopenia, Neutropenia, A... OMIM:300835
Anemia, Congenital Dyserythropoietic, Type Iv
Reduced haptoglobin level, Anemia, Reduced hematocrit, Hemolytic anemia, Circulating nucleated re... OMIM:613673
Cholesterol-Ester Transfer Protein Deficiency
Increased HDL cholesterol concentration, Hyperlipoproteinemia, Hyperlipidemia, Hypercholesterolem... ORPHA:79506
Anemia, Congenital Dyserythropoietic, Type Ia
Hemolytic anemia, Hyperbilirubinemia, Erythroid hyperplasia, Reticulocytosis, Macrocytic dyseryth... OMIM:224120
Hyperlipoproteinemia, Type Iv
Hypertriglyceridemia, Increased VLDL cholesterol concentration OMIM:144600
Hypertriglyceridemia 1
Hypertriglyceridemia, Increased VLDL cholesterol concentration OMIM:145750
Heinz Body Anemias
Nonspherocytic hemolytic anemia, Heinz body anemia, Heinz bodies OMIM:140700
Hemoglobin D Disease
Anemia, Reduced alpha/beta synthesis ratio, HbS hemoglobin, Increased HbA2 hemoglobin, Reduced he... ORPHA:90039
Congenital Dyserythropoietic Anemia Type Iii
Anemia, Increased total iron binding capacity, Hyperbilirubinemia, Poikilocytosis, Abnormal eryth... ORPHA:98870
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Heinz bodies, Unconjugated hyperbilirubinemia, Fava bean-induced hemolytic anemia, Reticulocytosi... OMIM:300908
Hemophagocytic Lymphohistiocytosis, Familial, 4
Anemia, Neutropenia, Increased circulating ferritin concentration, Hemophagocytosis, Thrombocytop... OMIM:603552
Hepatic Lipase Deficiency
Hypercholesterolemia, Hypertriglyceridemia, Increased HDL cholesterol concentration OMIM:614025
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Anemia, Hepatosplenomegaly, Increased circulating ferritin concentration, Hemophagocytosis, Throm... OMIM:613101
Morbid Obesity And Spermatogenic Failure
Increased LDL cholesterol concentration, Hypertriglyceridemia, Decreased HDL cholesterol concentr... OMIM:615703
Lipase Deficiency, Combined
Hypertriglyceridemia OMIM:246650
Coronary Artery Disease, Autosomal Dominant 2
Increased LDL cholesterol concentration, Hypertriglyceridemia OMIM:610947
Hyperlipidemia Due To Hepatic Triacylglycerol Lipase Deficiency
Hypertriglyceridemia, Increased HDL cholesterol concentration ORPHA:140905
Rh Deficiency Syndrome
Reduced haptoglobin level, Stomatocytosis, Hemolytic anemia, Hyperbilirubinemia, Reticulocytosis,... ORPHA:71275
Protoporphyria, Erythropoietic, 1
Hypertriglyceridemia, Hemolytic anemia OMIM:177000
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Anemia, Pancytopenia, Increased circulating ferritin concentration, Hemophagocytosis, Hypertrigly... OMIM:618398
Delta-Beta-Thalassemia
Anemia, Abnormal hemoglobin, Microcytic anemia ORPHA:231237
Hypertriglyceridemia, Transient Infantile
Hypertriglyceridemia, Splenomegaly OMIM:614480
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive
Increased LDL cholesterol concentration, Hypertriglyceridemia, Elevated circulating creatine kina... OMIM:616516
Hypobetalipoproteinemia, Familial, 1
Decreased LDL cholesterol concentration, Steatorrhea, Decreased HDL cholesterol concentration, Hy... OMIM:615558
Glycosylphosphatidylinositol Biosynthesis Defect 17
Hypertriglyceridemia OMIM:618010
Hyperlipidemia, Familial Combined, 3
Hypercholesterolemia, Increased VLDL cholesterol concentration, Elevated circulating apolipoprote... OMIM:144250
Retinitis Pigmentosa And Erythrocytic Microcytosis
Anemia, Elliptocytosis, Decreased serum iron, Poikilocytosis, Decreased mean corpuscular volume, ... OMIM:616959
Focal Segmental Glomerulosclerosis 1
Anemia, Hyperlipidemia, Hypoalbuminemia OMIM:603278
Glycogen Storage Disease Ixa1
Hypertriglyceridemia, Hyperuricemia, Splenomegaly, Hypercholesterolemia OMIM:306000
Anemia, Hypochromic Microcytic, With Iron Overload 1
Anemia, Erythroid hyperplasia, Decreased mean corpuscular volume, Elevated hepatic iron concentra... OMIM:206100
Hemoglobin C-Beta-Thalassemia Syndrome
Anemia, Abnormal hemoglobin, Splenomegaly, Microcytic anemia ORPHA:231242
Lymphoproliferative Syndrome, X-Linked, 2
Pancytopenia, Increased circulating ferritin concentration, Hemophagocytosis, Aplastic anemia, Hy... OMIM:300635
Abdominal Obesity-Metabolic Syndrome 4
Increased LDL cholesterol concentration, Hypertriglyceridemia, Decreased HDL cholesterol concentr... OMIM:618620
Orotic Aciduria
Pyrimidine-responsive megaloblastic anemia, Poikilocytosis, Anisocytosis, Folate-unresponsive meg... OMIM:258900
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome
Hypertriglyceridemia ORPHA:436182
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Acute myeloid leukemia, Anemia, Reduced natural killer cell count, Neutropenia, Hyperbilirubinemi... ORPHA:158057
Cholesteryl Ester Storage Disease
Hypertriglyceridemia, Splenomegaly, Hypercholesterolemia ORPHA:75234
Apolipoprotein C-Ii Deficiency
Decreased circulating apolipoprotein C-II concentration, Hypercholesterolemia, Increased circulat... OMIM:207750
Lipodystrophy, Congenital Generalized, Type 3
Hepatosplenomegaly, Hypercholesterolemia, Hypocalcemia, Hypertriglyceridemia, Splenomegaly OMIM:612526
Neutral Lipid Storage Disease With Myopathy
Hypertriglyceridemia, Elevated circulating creatine kinase concentration OMIM:610717
Encephalopathy, Progressive, With Or Without Lipodystrophy
Hypertriglyceridemia OMIM:615924
Lcat Deficiency
Decreased circulating apolipoprotein A-I concentration, Hypertriglyceridemia, Decreased HDL chole... ORPHA:650
Obesity Due To Melanocortin 4 Receptor Deficiency
Hypertriglyceridemia ORPHA:71529
Body Mass Index Quantitative Trait Locus 19
Hypertriglyceridemia, Hyperlipidemia OMIM:617885
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To
Stomatocytosis, Hemolytic anemia, Hyperbilirubinemia, Erythroid hyperplasia, Reticulocytosis OMIM:301083
Adenosine Triphosphate, Elevated, Of Erythrocytes
Reduced erythrocyte 2,3-diphosphoglycerate concentration, Polycythemia OMIM:102900
Hemophagocytic Lymphohistiocytosis, Familial, 1
Increased total bilirubin, Leukopenia, Anemia, Increased VLDL cholesterol concentration, Increase... OMIM:267700
Macrophage Activation Syndrome
Abnormal natural killer cell count, Anemia, Neutropenia, Increased circulating ferritin concentra... ORPHA:158061
Rajab Interstitial Lung Disease With Brain Calcifications 2
Hepatosplenomegaly, Hypertriglyceridemia, Microcytic anemia, Hypoalbuminemia OMIM:619013
Immunodeficiency 97 With Autoinflammation
Reduced natural killer cell count, Monocytopenia, Decreased proportion of CD4+CD25+ regulatory T ... OMIM:619802
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Reduced natural killer cell count, Hypoplasia of the thymus, T lymphocytopenia, B lymphocytopenia... OMIM:619313
Diarrhea 7, Protein-Losing Enteropathy Type
Hypoalbuminemia, Hyperlipidemia, Hypercholesterolemia OMIM:615863
Dominant Beta-Thalassemia
Abnormality of iron homeostasis, Hypersplenism, Reduced hemoglobin A, Decreased mean corpuscular ... ORPHA:231226
Lysosomal Acid Lipase Deficiency
Leukopenia, Anemia, Hypersplenism, Steatorrhea, Hepatosplenomegaly, Increased LDL cholesterol con... OMIM:278000
Lipodystrophy, Familial Partial, Type 4
Hypertriglyceridemia OMIM:613877
Plin1-Related Familial Partial Lipodystrophy
Hypertriglyceridemia ORPHA:280356
Nephrotic Syndrome, Type 2
Hyperlipidemia, Hypoalbuminemia OMIM:600995
Citrullinemia, Type Ii, Neonatal-Onset
Hyperlysinemia, Hyperthreoninemia, Hypermethioninemia, Hyperbilirubinemia, Hypertyrosinemia, Decr... OMIM:605814
Hyperlipoproteinemia, Type I
Lactescent serum, Hepatosplenomegaly, Hyperlipidemia, Hypercholesterolemia, Increased circulating... OMIM:238600
Elliptocytosis 2
Elliptocytosis, Neonatal hyperbilirubinemia, Hemolytic anemia, Reticulocytosis OMIM:130600
Tangier Disease
Decreased HDL cholesterol concentration, Decreased circulating apolipoprotein A-I concentration, ... OMIM:205400
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hyperlysinemia, Abnormal circulating lipid concentration, Hypergalactosemia, Elevated circulating... ORPHA:247598
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1
Anisocytosis OMIM:604273
Hyperlipoproteinemia, Type Id
Decreased LDL cholesterol concentration, Hyperlipoproteinemia, Decreased HDL cholesterol concentr... OMIM:615947
Chylomicron Retention Disease
Hypocholesterolemia, Acanthocytosis, Hypertriglyceridemia, Steatorrhea ORPHA:71
Hemophagocytic Lymphohistiocytosis, Familial, 2
Increased total bilirubin, Leukopenia, Anemia, Pancytopenia, Hepatosplenomegaly, Increased circul... OMIM:603553
Lipodystrophy, Familial Partial, Type 1
Hypertriglyceridemia OMIM:608600
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Hemolytic anemia, Unconjugated hyperbilirubinemia, Elliptocytosis, Reticulocytosis, Hepatosplenom... OMIM:618278
Lipodystrophy, Familial Partial, Type 5
Increased C-peptide level, Hypertriglyceridemia OMIM:615238
Citrullinemia, Type Ii, Adult-Onset
Hypertriglyceridemia, Hyperammonemia, Hyperargininemia, Elevated plasma citrulline OMIM:603471
Akt2-Related Familial Partial Lipodystrophy
Hypertriglyceridemia, Hyperlipidemia ORPHA:79085
Pyropoikilocytosis, Hereditary
Elliptocytosis, Hemolytic anemia, Microspherocytosis, Pyropoikilocytosis OMIM:266140
Glycerol Kinase Deficiency
Hypertriglyceridemia OMIM:307030
Ovalocytosis, Hereditary Hemolytic, With Defective Erythropoiesis
Elliptocytosis, Anemia of inadequate production, Hemolytic anemia OMIM:166910
Hemophagocytic Syndrome Associated With An Infection
Abnormal natural killer cell count, Abnormal T cell subset distribution, Anemia, Neutropenia, Pan... ORPHA:158048
Familial Hemophagocytic Lymphohistiocytosis
Anemia, Neutropenia, Increased circulating ferritin concentration, Hemophagocytosis, Thrombocytop... ORPHA:540
Temple Syndrome
Hypertriglyceridemia, Hypercholesterolemia OMIM:616222
Idiopathic Steroid-Resistant Nephrotic Syndrome
Abnormal circulating lipid concentration, Hypertriglyceridemia, Hypoalbuminemia, Hypercholesterol... ORPHA:567548
Severe Neurodegenerative Syndrome With Lipodystrophy
Hypertriglyceridemia ORPHA:363400
Lipodystrophy, Familial Partial, Type 3
Hypertriglyceridemia, Hyperuricemia, Decreased HDL cholesterol concentration OMIM:604367
Glycogen Storage Disease Ixc
Hypertriglyceridemia, Splenomegaly OMIM:613027
Abdominal Obesity-Metabolic Syndrome 3
Increased LDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia OMIM:615812
Smith-Magenis Syndrome
Hypertriglyceridemia, Hypercholesterolemia OMIM:182290
Citrullinemia Type Ii
Acute hyperammonemia, Hypoproteinemia, Decreased HDL cholesterol concentration, Hyperlipidemia, H... ORPHA:247585
Cidec-Related Familial Partial Lipodystrophy
Hypertriglyceridemia, Hyperlipidemia ORPHA:435651
Lipe-Related Familial Partial Lipodystrophy
Hypertriglyceridemia, Hyperlipidemia, Elevated circulating creatine kinase concentration ORPHA:435660
Proteasome-Associated Autoinflammatory Syndrome 3
Anemia, Lymphopenia, Thrombocytopenia, Hypertriglyceridemia, Splenomegaly OMIM:617591
Cholestasis-Lymphedema Syndrome
Conjugated hyperbilirubinemia, Splenomegaly, Hyperlipidemia OMIM:214900
Ataxia With Vitamin E Deficiency
Increased LDL cholesterol concentration, Hypertriglyceridemia, Xanthelasma, Hypercholesterolemia OMIM:277460
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Increased LDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia ORPHA:209902
Nephrotic Syndrome, Type 14
Hypertriglyceridemia, Lymphopenia, Hypoalbuminemia OMIM:617575
Congenital Erythropoietic Porphyria
Reduced haptoglobin level, Abnormal circulating porphyrin concentration, Leukopenia, Hemolytic an... ORPHA:79277
Gaisböck Syndrome
Increased mean corpuscular hemoglobin concentration, Hyperuricemia, Increased red blood cell coun... ORPHA:90041
Obesity Due To Congenital Leptin Deficiency
Hypertriglyceridemia, Decreased proportion of CD4-positive helper T cells ORPHA:66628
Obesity Due To Leptin Receptor Gene Deficiency
Hypertriglyceridemia, Decreased proportion of CD4-positive helper T cells ORPHA:179494
Dysbetalipoproteinemia
Hypercholesterolemia, Increased LDL cholesterol concentration, Decreased HDL cholesterol concentr... ORPHA:412
Tangier Disease
Anemia, Hepatosplenomegaly, Hypocholesterolemia, Thrombocytopenia, Hypertriglyceridemia ORPHA:31150
Congenital Generalized Lipodystrophy
Increased C-peptide level, Hypertriglyceridemia, Hypercholesterolemia ORPHA:528
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Anemia, Abnormal erythrocyte enzyme level, Elevated circulating creatine kinase concentration, Hy... ORPHA:264580
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Increased LDL cholesterol concentration, Hypertriglyceridemia, Elevated circulating creatine kina... ORPHA:98855
Pparg-Related Familial Partial Lipodystrophy
Hypertriglyceridemia, Hyperuricemia, Splenomegaly ORPHA:79083
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency
Hyperuricemia, Hyperlipidemia ORPHA:364
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Anemia, Elevated circulating creatine kinase concentration, Hypercholesterolemia, Hypertriglyceri... ORPHA:79240
Familial Partial Lipodystrophy, Dunnigan Type
Hypertriglyceridemia, Splenomegaly ORPHA:2348
Chédiak-Higashi Syndrome
Splenomegaly, Anemia, Neutropenia, Pancytopenia, Hepatosplenomegaly, Increased circulating ferrit... ORPHA:167
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Hypertriglyceridemia OMIM:615381
Smith-Magenis Syndrome
Hypertriglyceridemia, Hypercholesterolemia ORPHA:819
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
Abnormal erythrocyte enzyme level, Elevated circulating creatine kinase concentration, Hyperchole... ORPHA:370
X-Linked Emery-Dreifuss Muscular Dystrophy
Increased LDL cholesterol concentration, Hypertriglyceridemia, Elevated circulating creatine kina... ORPHA:98863
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Increased LDL cholesterol concentration, Hypertriglyceridemia, Elevated circulating creatine kina... ORPHA:98853
Emery-Dreifuss Muscular Dystrophy
Increased LDL cholesterol concentration, Hypertriglyceridemia, Elevated circulating creatine kina... ORPHA:261
Mandibuloacral Dysplasia
Hypertriglyceridemia, Increased circulating free fatty acid level, Hypercholesterolemia ORPHA:2457
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Microangiopathic hemolytic anemia, Reticulocytosis, Increased blood urea nitrogen, Schistocytosis... OMIM:235400
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Hyperlipidemia ORPHA:329249
Griscelli Syndrome Type 2
Pancytopenia, Hemophagocytosis, Hyperlipidemia, Neutropenia, Splenomegaly ORPHA:79477
Werner Syndrome
Hypertriglyceridemia, Elevated hemoglobin A1c OMIM:277700
Lysinuric Protein Intolerance
Leukopenia, Anemia, Hyperalaninemia, Hyperglycinemia, Hyperglutaminemia, Steatorrhea, Hepatosplen... ORPHA:470
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Hyperlipidemia, Mildly elevated creatine kinase OMIM:604484
Glycogen Storage Disease Iii
Hyperlipidemia, Elevated circulating creatine kinase concentration OMIM:232400
Neutral Lipid Storage Disease With Ichthyosis
Abnormal circulating creatine kinase concentration, Hypertriglyceridemia, Abnormal granulocyte mo... ORPHA:98907
Lysosomal Acid Lipase Deficiency
Hypercholesterolemia, Anemia, Hypersplenism, Hyperkalemia, Steatorrhea, Hepatosplenomegaly, Xanth... ORPHA:275761
Lipodystrophy, Familial Partial, Type 6
Abnormal circulating lipid concentration, Hyperlipidemia, Elevated circulating creatine kinase co... OMIM:615980
Alstrom Syndrome
Hypertriglyceridemia, Hyperuricemia, Decreased HDL cholesterol concentration OMIM:203800
Familial Chylomicronemia Syndrome
Increased circulating chylomicron concentration, Hypertriglyceridemia, Hyperlipidemia, Hepatosple... ORPHA:444490
Griscelli Syndrome Type 1
Hyperlipidemia ORPHA:79476
X-Linked Lymphoproliferative Disease
Increased B cell count, Reduced natural killer cell count, T lymphocytopenia, B lymphocytopenia, ... ORPHA:2442
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal
Hypertriglyceridemia, Hypercholesterolemia OMIM:610644
H Syndrome
Histiocytosis, Hypertriglyceridemia, Microcytic anemia, Hepatosplenomegaly ORPHA:168569
Xp21 Deletion Syndrome
Hypertriglyceridemia, Elevated circulating creatine kinase concentration ORPHA:261476
Fanconi-Bickel Syndrome
Hypophosphatemia, Hypertriglyceridemia ORPHA:2088
Diarrhea 10, Protein-Losing Enteropathy Type
Hyponatremia, Hypocalcemia, Hypertriglyceridemia, Hypomagnesemia, Hypoalbuminemia OMIM:618183
Lipodystrophy, Congenital Generalized, Type 4
Hypertriglyceridemia, Splenomegaly, Elevated circulating creatine kinase concentration OMIM:613327
Seckel Syndrome 10
Hypertriglyceridemia, Elevated hemoglobin A1c OMIM:617253
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Chronic neutropenia, Anemia, Hyperuricemia, Abnormal myeloid leukocyte morphology, Xanthelasma, H... ORPHA:79259
Immunodeficiency 87 And Autoimmunity
Decreased CD4:CD8 ratio, Hemolytic anemia, Hypokalemia, Decreased proportion of CD4-positive T ce... OMIM:619573
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Splenomegaly ORPHA:280365
Acquired Generalized Lipodystrophy
Abnormal circulating lipid concentration, Hypertriglyceridemia ORPHA:79086
Chronic Visceral Acid Sphingomyelinase Deficiency
Abnormal circulating lipid concentration, Hypersplenism, Acute promyelocytic leukemia, Autoimmune... ORPHA:77293
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Anemia, Polysplenia, Accessory spleen, Hypertriglyceridemia, Splenomegaly OMIM:619418
Lipodystrophy, Familial Partial, Type 2
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia OMIM:151660
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Hypertriglyceridemia, Hypercalcemia ORPHA:369837
Nephrotic Syndrome, Type 1
Hypoproteinemia, Hyperlipidemia, Hypoalbuminemia OMIM:256300
Congenital Analbuminemia
Increased alpha-globulin, Hypoproteinemia, Hyperlipidemia, Hypercholesterolemia, Hypoalbuminemia ORPHA:86816
Cholestasis-Lymphedema Syndrome
Splenomegaly, Hyperlipidemia ORPHA:1414
Classical-Like Ehlers-Danlos Syndrome Type 2
Hypertriglyceridemia ORPHA:536532
Lmna-Related Cardiocutaneous Progeria Syndrome
Hypertriglyceridemia, Hypercholesterolemia ORPHA:363618
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Hyperlipidemia ORPHA:2089
Proteasome-Associated Autoinflammatory Syndrome 1
Decreased HDL cholesterol concentration, Elevated circulating C-reactive protein concentration, T... OMIM:256040
Lipodystrophy, Congenital Generalized, Type 2
Splenomegaly, Hypertriglyceridemia, Elevated hemoglobin A1c OMIM:269700
Mandibuloacral Dysplasia Progeroid Syndrome
Hypertriglyceridemia, Elevated hemoglobin A1c OMIM:619127
Lipodystrophy, Congenital Generalized, Type 1
Hypertriglyceridemia, Splenomegaly OMIM:608594
Neutral Lipid Storage Myopathy
Abnormal circulating creatine kinase concentration, Hypertriglyceridemia ORPHA:98908
Combined Deficiency Of Factor V And Factor Viii
Hyperuricemia, Hyperlipidemia ORPHA:35909
Alagille Syndrome 1
Hypertriglyceridemia, Hypercholesterolemia OMIM:118450
Primary Lipodystrophy
Splenomegaly, Hyperlipidemia ORPHA:90970
Carnitine Palmitoyltransferase Ii Deficiency
Elevated circulating acylcarnitine concentration, Decreased plasma free carnitine, Elevated circu... ORPHA:157
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Elevated circulating acylcarnitine concentration, Decreased plasma free carnitine, Elevated circu... ORPHA:228308
Cushing Syndrome Due To Macronodular Adrenal Hyperplasia
Increased circulating cortisol level, Paradoxical increased cortisol secretion on dexamethasone s... ORPHA:189427
Wiedemann-Rautenstrauch Syndrome
Hypertriglyceridemia, Hypoplasia of the thymus OMIM:264090
Parenteral Nutrition-Associated Cholestasis
Hyperlipidemia, Splenomegaly, Abnormal circulating fatty-acid concentration, Conjugated hyperbili... ORPHA:567983
Glycogen Storage Disease Ib
Hyperuricemia, Hyperlipidemia, Xanthelasma, Neutropenia, Splenomegaly OMIM:232220
Atypical Werner Syndrome
Hypertriglyceridemia ORPHA:79474
Lipodystrophy, Familial Partial, Type 7
Hypertriglyceridemia, Hypercholesterolemia OMIM:606721
Wiedemann-Rautenstrauch Syndrome
Hypertriglyceridemia ORPHA:3455
Glycogen Storage Disease Ia
Hyperuricemia, Hyperlipidemia, Xanthelasma OMIM:232200
Primary Triglyceride Deposit Cardiomyovasculopathy
Vacuolated lymphocytes, Splenomegaly, Hyperlipidemia, Elevated circulating creatine kinase concen... ORPHA:565612
Glycogen Storage Disease Ic
Hyperuricemia, Cyclic neutropenia, Hyperlipidemia, Xanthelasma OMIM:232240
Alström Syndrome
Hypertriglyceridemia, Splenomegaly, Hyperlipidemia, Hepatosplenomegaly ORPHA:64
Homozygous Familial Hypercholesterolemia
Increased LDL cholesterol concentration, Hyperlipidemia, 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 Acot5

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 Acot5.

There are 4 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
A Genome-Wide Screen in Mice To Identify Cell-Extrinsic Regulators of Pulmonary Metastatic Colonisation. G3 (Bethesda, Md.) (June 2020) Acot5tm1a(KOMP)Wtsi PMC7263671
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis. Nature communications (August 2019) Acot5tm1a(KOMP)Wtsi PMC6671969
Mouse screen reveals multiple new genes underlying mouse and human hearing loss. PLoS biology (April 2019) Acot5tm1a(KOMP)Wtsi