Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
acyl-Coenzyme A dehydrogenase family, member 8
Synonyms:
2310016C19Rik

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 Acad8 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

The table below shows human diseases associated to Acad8 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Isobutyryl-Coa Dehydrogenase Deficiency
Decreased plasma carnitine, Elevated circulating acylcarnitine concentration, Dicarboxylic aciduria ORPHA:79159
Isobutyryl-Coa Dehydrogenase Deficiency
Decreased plasma carnitine OMIM:611283

The table below shows human diseases predicted to be associated to Acad8 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Increased total bilirubin, Elevated hepatic transaminase, Cholestasis, Hepatomegaly, Jaundice, Ab... OMIM:618528
Combined Oxidative Phosphorylation Deficiency 52
Lacticaciduria, Decreased activity of mitochondrial complex III, Hyperglycinemia, Hepatic steatos... OMIM:619386
Hyperlysinemia Due To Defect In Lysine Transport Into Mitochondria
Mitochondrial lysine transport defect, Hyperlysinemia OMIM:238710
Pentosuria
Abnormal urine carbohydrate level, Abnormality of circulating enzyme level, Abnormal circulating ... ORPHA:2843
Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance
Mildly elevated creatine kinase, Increased mitochondrial number ORPHA:457050
Mitochondrial Complex Iv Deficiency, Nuclear Type 19
Decreased activity of mitochondrial complex IV, Lacticaciduria, Hyperglycinemia, Increased mitoch... OMIM:619063
Barth Syndrome
Abnormal mitochondrial morphology ORPHA:111
Liver Failure, Infantile, Transient
Elevated hepatic transaminase, Microvesicular hepatic steatosis, Macrovesicular hepatic steatosis... OMIM:613070
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee
Hepatic steatosis, Mildly elevated creatine kinase, Elevated hepatic transaminase OMIM:618400
Dna2-Related Mitochondrial Dna Deletion Syndrome
Elevated creatine kinase after exercise, Multiple joint contractures, Decreased mitochondrial number ORPHA:352470
Lipodystrophy, Familial Partial, Type 5
Hepatic steatosis, Lipodystrophy, Abnormal circulating lipid concentration, Hepatomegaly, Hypertr... OMIM:615238
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Hepatic steatosis, Elevated circulating alanine aminotransferase concentration, Decreased plasma ... OMIM:619048
Combined Oxidative Phosphorylation Deficiency 38
Decreased activity of mitochondrial complex IV, Abnormal mitochondrial morphology OMIM:618378
Hypertriglyceridemia, Transient Infantile
Elevated hepatic transaminase, Hepatic steatosis, Hepatic fibrosis, Hepatomegaly, Hypertriglyceri... OMIM:614480
Congenital Disorder Of Glycosylation, Type Iip
Hypercholesterolemia, Elevated hepatic transaminase, Hepatic steatosis, Decreased liver function,... OMIM:616829
Fatty Liver Disease, Nonalcoholic, Susceptibility To, 2
Hepatic steatosis OMIM:613387
Fatty Liver Disease, Nonalcoholic, Susceptibility To, 1
Hepatic steatosis OMIM:613282
Combined Oxidative Phosphorylation Deficiency 16
Microvesicular hepatic steatosis, Elevated hepatic transaminase OMIM:615395
Morbid Obesity And Spermatogenic Failure
Hypercholesterolemia, Azoospermia, Oligospermia, Hepatic steatosis, Hypertriglyceridemia, Decreas... OMIM:615703
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of
Decreased plasma carnitine, Medium chain dicarboxylic aciduria, Elevated hepatic transaminase, He... OMIM:201450
Barth Syndrome
Organic aciduria, Abnormal mitochondrial morphology, 3-Methylglutaconic aciduria OMIM:302060
Acquired Partial Lipodystrophy
Hepatic steatosis, Lipoatrophy, Glomerulopathy, Microscopic hematuria, Proteinuria ORPHA:79087
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Micronodular cirrhosis, Depletion of mitochondrial DNA in liver, Hepatocellular necrosis, Elevate... OMIM:251880
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form
Red-brown urine, Decreased plasma total carnitine, Elevated hepatic transaminase, Hepatic steatos... ORPHA:228305
Lipodystrophy, Congenital Generalized, Type 3
Hypocalcemia, Hypercholesterolemia, Hepatic steatosis, Lipodystrophy, Hepatomegaly, Hypertriglyce... OMIM:612526
Lipodystrophy, Familial Partial, Type 6
Elevated circulating creatine kinase concentration, Hepatic steatosis, Lipodystrophy, Abnormal ci... OMIM:615980
Plin1-Related Familial Partial Lipodystrophy
Hepatic steatosis, Lipoatrophy, Hepatic fibrosis, Hypertriglyceridemia, Loss of gluteal subcutane... ORPHA:280356
Lipodystrophy, Familial Partial, Type 4
Hepatic steatosis, Lipoatrophy, Hypertriglyceridemia OMIM:613877
Neutral Lipid Storage Disease With Myopathy
Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly, Hypertriglyceridemia, Elevated ci... OMIM:610717
3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hepatic steatosis, Dicarboxylic aciduria, Myoglobinuria, Hepatic necrosis, Fulminant hepatic fail... OMIM:231530
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial
Hepatic steatosis, Renal steatosis, Hepatic failure OMIM:261650
Combined Oxidative Phosphorylation Deficiency 12
Decreased activity of mitochondrial complex III, Macrovesicular hepatic steatosis, Cholestasis, H... OMIM:614924
Multiple Acyl-Coa Dehydrogenase Deficiency
Renal cortical cysts, Generalized aminoaciduria, Hepatic steatosis, Glutaric aciduria, Proximal t... OMIM:231680
Short Chain Acyl-Coa Dehydrogenase Deficiency
Elevated circulating acylcarnitine concentration, Hepatic steatosis, Increased level of methylsuc... ORPHA:26792
Patent Ductus Venosus
Hepatic steatosis, Hyperammonemia, Decreased liver function, Hypergalactosemia OMIM:601466
Hsd10 Mitochondrial Disease
Abnormal mitochondrial morphology OMIM:300438
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Decreased plasma total carnitine, Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly,... ORPHA:42
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Decreased plasma carnitine, Hepatocellular necrosis, Hepatic steatosis, Periportal fibrosis, Hepa... OMIM:201475
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Elevated hepatic transaminase, Hepatic steatosis, Duplicated collecting system, Decreased liver f... OMIM:617093
Nphp3-Related Meckel-Like Syndrome
Multicystic kidney dysplasia, Renal dysplasia, Abnormality of the pancreas, Abnormal biliary trac... ORPHA:3032
Renal Failure, Progressive, With Hypertension
Elevated circulating creatinine concentration, Microscopic hematuria, Stage 5 chronic kidney dise... OMIM:161900
Pyruvate Dehydrogenase Phosphatase Deficiency
Lacticaciduria, Hyperalaninemia, Decreased activity of the pyruvate dehydrogenase complex, Hyperp... ORPHA:79246
Spastic Paraplegia Type 7
Urinary urgency, Abnormal mitochondrial morphology ORPHA:99013
Congenital Disorder Of Glycosylation, Type Iir
Micronodular cirrhosis, Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly, Jaundice,... OMIM:301045
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Cirrhosis, Elevated hepatic transaminase, Microvesicular hepatic steatosis, Cholestasis, Jaundice... OMIM:617156
Hemochromatosis Type 4
Increased circulating ferritin concentration, Hepatic steatosis, Cirrhosis, Congenital hepatic fi... ORPHA:139491
Dent Disease 2
Hypophosphatemia, Low-molecular-weight proteinuria, Proximal tubulopathy, Elevated circulating al... OMIM:300555
Combined Oxidative Phosphorylation Deficiency 49
Decreased activity of mitochondrial complex III, Decreased activity of mitochondrial complex II, ... OMIM:619024
Mitochondrial Complex Iv Deficiency, Nuclear Type 6
Hepatic steatosis OMIM:615119
Gracile Syndrome
Increased circulating ferritin concentration, Cirrhosis, Decreased transferrin saturation, Hepati... ORPHA:53693
Immunodeficiency 47
Cirrhosis, Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly, Prolonged neonatal jau... OMIM:300972
Combined Oxidative Phosphorylation Deficiency 19
Hepatic steatosis OMIM:615595
Porphyria Cutanea Tarda
Increased circulating ferritin concentration, Hepatic lobular inflammation, Elevated hepatic tran... ORPHA:101330
Familial Partial Lipodystrophy, Köbberling Type
Hepatomegaly, Hepatic steatosis, Lipoatrophy, Pancreatitis ORPHA:79084
Carnitine Deficiency, Systemic Primary
Decreased plasma carnitine, Elevated hepatic transaminase, Hepatic steatosis, Decreased carnitine... OMIM:212140
Interstitial Nephritis, Karyomegalic
Nephronophthisis, Hematuria, Elevated hepatic transaminase, Increased blood urea nitrogen, Elevat... OMIM:614817
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Decreased plasma carnitine, Elevated hepatic transaminase, Abnormal circulating acetylcarnitine c... ORPHA:71212
Lipe-Related Familial Partial Lipodystrophy
Increased intraabdominal fat, Hepatic steatosis, Increased adipose tissue around the neck, Lipody... ORPHA:435660
Frontotemporal Dementia With Motor Neuron Disease
Abnormal mitochondrial morphology ORPHA:275872
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome
Hepatic steatosis, Hypertriglyceridemia ORPHA:436182
Lipodystrophy, Familial Partial, Type 3
Cirrhosis, Hepatic steatosis, Lipodystrophy, Hyperuricemia, Hypertriglyceridemia, Loss of gluteal... OMIM:604367
Charcot-Marie-Tooth Disease, Axonal, Mitochondrial Form, 1
Neurogenic bladder, Decreased activity of mitochondrial complex III, Decreased activity of mitoch... OMIM:500013
Carnitine Palmitoyltransferase I Deficiency
Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly, Renal tubular acidosis, Elevated ... OMIM:255120
Hypermethioninemia Due To Adenosine Kinase Deficiency
Elevated hepatic transaminase, Hepatic steatosis, Hyperbilirubinemia, Hypermethioninemia, Cholest... OMIM:614300
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Hepatomegaly, Hepatic steatosis, Abnormal circulating creatine kinase concentration, Elevated hep... ORPHA:369840
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Red-brown urine, Decreased plasma total carnitine, Cystic renal dysplasia, Hepatic steatosis, Ren... ORPHA:228308
Acyl-Coa Dehydrogenase 9 Deficiency
Decreased plasma carnitine, Elevated hepatic transaminase, Hepatic steatosis, Acute hepatic failu... ORPHA:99901
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hypercholesterolemia, Abnormal circulating alanine concentration, Hyperthreoninemia, Abnormal cir... ORPHA:247598
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Elevated circulating creatine kinase concentration, Nephrolithiasis, Decreased mitochondrial number ORPHA:352447
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Abnormality of the mitochondrion, Cyanosis ORPHA:91130
Mitochondrial Phosphate Carrier Deficiency
Cyanosis, Abnormal mitochondrial shape OMIM:610773
African Iron Overload
Peritonitis, Micronodular cirrhosis, Increased circulating ferritin concentration, Viral hepatiti... ORPHA:139507
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Low plasma citrulline, Hepatic steatosis, Renal steatosis, Ketonuria, Hepatomegaly, Hepatic failu... OMIM:261680
Mitochondrial Complex I Deficiency, Nuclear Type 11
Hepatomegaly, Macrovesicular hepatic steatosis OMIM:618234
Tricarboxylic Acid Cycle, Defect Of
Decreased activity of the pyruvate dehydrogenase complex OMIM:275370
Cidec-Related Familial Partial Lipodystrophy
Hepatic steatosis, Lipodystrophy, Hepatomegaly, Hypertriglyceridemia, Loss of gluteal subcutaneou... ORPHA:435651
Severe Neurodegenerative Syndrome With Lipodystrophy
Cirrhosis, Hepatic steatosis, Reduced intraabdominal adipose tissue, Hepatomegaly, Hypertriglycer... ORPHA:363400
Combined Oxidative Phosphorylation Deficiency 34
Hepatomegaly, Hepatic steatosis, Hepatic failure OMIM:617872
Citrullinemia, Type Ii, Adult-Onset
Elevated hepatic transaminase, Hepatic steatosis, Hepatocellular carcinoma, Hypertriglyceridemia,... OMIM:603471
Akt2-Related Familial Partial Lipodystrophy
Increased intraabdominal fat, Hepatic steatosis, Lipodystrophy, Hepatomegaly, Hypertriglyceridemi... ORPHA:79085
Interstitial Lung And Liver Disease
Cirrhosis, Intraalveolar phospholipid accumulation, Elevated hepatic transaminase, Hepatic steato... OMIM:615486
Triokinase And Fmn Cyclase Deficiency Syndrome
Hepatic steatosis, Elevated circulating alanine aminotransferase concentration, Hepatomegaly, Hyp... OMIM:618805
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Elevated hepatic transaminase, Decreased activity of mitochondrial complex III, Abnormal renal co... ORPHA:17
2P21 Microdeletion Syndrome
Mitochondrial respiratory chain defects, Nephrolithiasis, Hypocalcemia, Cystinuria ORPHA:163693
Peroxisomal Acyl-Coa Oxidase Deficiency
Hepatomegaly, Elevated hepatic transaminase, Diffuse hepatic steatosis OMIM:264470
Ddost-Cdg
Hepatic steatosis, Lipodystrophy, Nephrotic range proteinuria, Elevated hepatic transaminase ORPHA:300536
Lysosomal Acid Lipase Deficiency
Elevated circulating aspartate aminotransferase concentration, Cirrhosis, Hypercholesterolemia, D... OMIM:278000
C3 Glomerulopathy
Hematuria, Acute kidney injury, Elevated circulating creatinine concentration, Lipodystrophy, Mem... ORPHA:329918
Myopathy With Lactic Acidosis, Hereditary
Decreased activity of mitochondrial complex III, Decreased activity of mitochondrial complex II, ... OMIM:255125
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Increased total bilirubin, Hyperammonemia, Decreased plasma total carnitine, Elevated hepatic tra... OMIM:608836
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome
Mitochondrial swelling, Mildly elevated creatine kinase ORPHA:397744
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
Hypercholesterolemia, Cirrhosis, Elevated hepatic transaminase, Hepatocellular adenoma, Hepatocel... ORPHA:370
Coach Syndrome 2
Elevated hepatic transaminase, Elevated circulating creatinine concentration, Hepatic fibrosis, C... OMIM:619111
Familial Partial Lipodystrophy, Dunnigan Type
Cellulitis, Hepatic steatosis, Lipoatrophy, Lipodystrophy, Glomerulopathy, Hepatomegaly, Hypertri... ORPHA:2348
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Micronodular cirrhosis, Microvesicular hepatic steatosis, Elevated hepatic transaminase, Bile duc... OMIM:203700
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Hypercholesterolemia, Hepatic steatosis, Cholesterol gallstones, Macrovesicular hepatic steatosis... ORPHA:209902
Citrullinemia Type Ii
Hypercholesterolemia, Hypoproteinemia, Elevated hepatic transaminase, Hepatic steatosis, Hepatoce... ORPHA:247585
Lipodystrophy, Familial Partial, Type 2
Hypercholesterolemia, Increased intraabdominal fat, Hepatic steatosis, Adipose tissue loss, Incre... OMIM:151660
Mitochondrial Complex Iv Deficiency, Nuclear Type 22
Elevated circulating dodecanoylcarnitine concentration, Hyperglutaminemia, Elevated hepatic trans... OMIM:619355
Infantile Liver Failure Syndrome 3
Elevated hepatic transaminase, Hepatic steatosis, Hepatic bridging fibrosis, Acute hepatic failur... OMIM:618641
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Elevated hepatic transaminase, Macrovesicular hepatic steatosis, Hepatomegaly, Elevated circulati... OMIM:600649
Peroxisome Biogenesis Disorder 2A (Zellweger)
Abnormality of the mitochondrion, Camptodactyly, Aminoaciduria, Elevated circulating long chain f... OMIM:214110
Combined Oxidative Phosphorylation Deficiency 21
Hepatic steatosis OMIM:615918
Rajab Interstitial Lung Disease With Brain Calcifications 2
Elevated hepatic transaminase, Hepatic steatosis, Hypertriglyceridemia, Hypoalbuminemia, Hepatosp... OMIM:619013
Cowden syndrome 3
Abnormality of mitochondrial metabolism, Renal cell carcinoma OMIM:615106
Fructose Intolerance, Hereditary
Hypophosphatemia, Cirrhosis, Elevated hepatic transaminase, Hyperphosphaturia, Hepatic steatosis,... OMIM:229600
Congenital Generalized Lipodystrophy
Hypercholesterolemia, Cirrhosis, Hepatic steatosis, Adipose tissue loss, Lipodystrophy, Hepatomeg... ORPHA:528
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Elevated hepatic transaminase, Hepatic steatosis, Lipodystrophy, Flexion contracture, Hepatomegal... OMIM:615381
Salih Myopathy
Elevated circulating creatine kinase concentration, Mitochondrial depletion, Flexion contracture OMIM:611705
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome
Abnormality of mitochondrial metabolism, Proteinuria, Nephropathy, Nephrotic syndrome ORPHA:1192
Combined Oxidative Phosphorylation Deficiency 26
Cirrhosis, Abnormal activity of mitochondrial respiratory chain OMIM:616539
Parenteral Nutrition-Associated Cholestasis
Cirrhosis, Elevated hepatic transaminase, Hepatic steatosis, Conjugated hyperbilirubinemia, Chole... ORPHA:567983
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy
Hyperphosphaturia, Proteinuria, Aminoaciduria, Glycosuria, Hepatomegaly, Decreased liver function... ORPHA:436271
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Hepatic cysts, Elevated circulating creatinine concentration, Recurrent urinary tract infections,... OMIM:613095
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency
Hepatic steatosis, Hypermethioninemia, Inguinal hernia, Pancreatitis, Homocystinuria, Hyperhomocy... OMIM:236200
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hypercholesterolemia, Cirrhosis, Elevated hepatic transaminase, Hepatocellular adenoma, Hepatic s... ORPHA:264580
Mitochondrial Neurogastrointestinal Encephalomyopathy
Cirrhosis, Elevated hepatic transaminase, Abnormality of the mitochondrion, Macrovesicular hepati... ORPHA:298
Pparg-Related Familial Partial Lipodystrophy
Cirrhosis, Hepatic steatosis, Lipoatrophy, Hyperuricemia, Hepatomegaly, Hypertriglyceridemia, Pan... ORPHA:79083
3-Methylglutaconic Aciduria, Type V
Glutaric aciduria, Hypospadias, 3-Methylglutaric aciduria, Microvesicular hepatic steatosis OMIM:610198
Combined Oxidative Phosphorylation Deficiency 11
Renal hypoplasia, Hepatic steatosis, Hepatomegaly, Renal tubular acidosis, Renal dysplasia, Decre... OMIM:614922
Infantile Liver Failure Syndrome 1
Hepatomegaly, Hepatic steatosis, Acute hepatic failure, Elevated hepatic transaminase OMIM:615438
Acquired Generalized Lipodystrophy
Cirrhosis, Hepatic steatosis, Panniculitis, Abnormal circulating lipid concentration, Acute pancr... ORPHA:79086
Autosomal Dominant Polycystic Kidney Disease
Hematuria, Albuminuria, Pyelonephritis, Enlarged kidney, Hepatic cysts, Elevated circulating crea... ORPHA:730
Thrombotic Thrombocytopenic Purpura
Hematuria, Acute kidney injury, Decreased serum creatinine, Renal insufficiency, Proteinuria ORPHA:54057
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Cirrhosis, Elevated hepatic transaminase, Microvesicular hepatic steatosis, Macrovesicular hepati... OMIM:256810
Dystonia-Aphonia Syndrome
Abnormal urinary odor, Abnormal mitochondrial shape ORPHA:412217
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency
Dysuria, Acute kidney injury, Uric acid nephrolithiasis, Elevated circulating creatinine concentr... ORPHA:79233
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Elevated circulating creatine kinase concentration, Hepatic steatosis, Urinary bladder sphincter ... ORPHA:52430
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Abnormality of the mitochondrion ORPHA:330050
Carnitine-Acylcarnitine Translocase Deficiency
Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly, Dicarboxylic aciduria, Elevated c... OMIM:212138
Nephrogenic Syndrome Of Inappropriate Antidiuresis
Hypernatriuria, Decreased circulating renin level, Hyponatremia, Decreased serum creatinine OMIM:300539
Wilson Disease
Acute hepatitis, Cirrhosis, Elevated hepatic transaminase, Hepatic steatosis, Acute hepatic failu... ORPHA:905
Congenital Disorder Of Glycosylation, Type Ia
Elevated hepatic transaminase, Hepatic steatosis, Abnormal subcutaneous fat tissue distribution, ... OMIM:212065
Primary Lipodystrophy
Cirrhosis, Hepatic steatosis, Lipoatrophy, Lipodystrophy, Pancreatitis, Splenomegaly, Hyperlipidemia ORPHA:90970
Congenital Disorder Of Glycosylation, Type It
Elevated hepatic transaminase, Hepatic steatosis, Intrahepatic cholestasis, Hepatitis, Elevated c... OMIM:614921
Adrenomyodystrophy
Hepatic steatosis OMIM:300270
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Hyperphosphaturia, Increased hepatocellular lipid droplets, Aminoaciduria, Glycosuria, Hepatomega... OMIM:220110
Adrenomyodystrophy
Hepatic steatosis, Megacystis, Abnormality of the urinary system ORPHA:977
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Minimal subcutaneous fat, Increased intraabdominal fat, Hepatic steatosis, Increased adipose tiss... ORPHA:280365
Growth Delay-Intellectual Disability-Hepatopathy Syndrome
Elevated hepatic transaminase, Hepatic steatosis, Duplicated collecting system, Cholestasis, Hepa... ORPHA:541423
Autoimmune Hepatitis
Acute hepatitis, Increased total bilirubin, Cirrhosis, Elevated hepatic transaminase, Viral hepat... ORPHA:2137
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Renal agenesis, Elevated hepatic transaminase, Acute kidney injury, Horseshoe kidney, Hepatic ste... ORPHA:93111
Sialuria
Elevated hepatic transaminase, Abnormality of the mitochondrion, Cholelithiasis, Hepatomegaly, He... ORPHA:3166
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency
Acute hyperammonemia, Ketonuria, Acute hepatic steatosis OMIM:210200
Lipodystrophy, Congenital Generalized, Type 4
Elevated hepatic transaminase, Hepatic steatosis, Flexion contracture, Lipodystrophy, Hepatomegal... OMIM:613327
Fructose-1,6-Bisphosphatase Deficiency
Elevated hepatic transaminase, Hepatic steatosis, Hyperuricemia, Hepatomegaly, Neonatal hyperbili... ORPHA:348
Alstrom Syndrome
Elevated hepatic transaminase, Chronic active hepatitis, Hepatic steatosis, Hyperuricemia, Hepato... OMIM:203800
Chylomicron Retention Disease
Hepatic steatosis, Increased hepatocellular lipid droplets, Elevated hepatic transaminase, Hypoch... ORPHA:71
Lipodystrophy, Congenital Generalized, Type 1
Cirrhosis, Elevated hepatic transaminase, Hepatic steatosis, Reduced intraabdominal adipose tissu... OMIM:608594
Chanarin-Dorfman Syndrome
Hepatomegaly, Hepatic steatosis OMIM:275630
Hsd10 Disease, Infantile Type
Hyperammonemia, Abnormal concentration of acylcarnitine in the urine, Abnormality of the lower ur... ORPHA:391428
Multiple Mitochondrial Dysfunctions Syndrome 3
Abnormality of mitochondrial metabolism, Arthrogryposis multiplex congenita OMIM:615330
Mitochondrial Complex I Deficiency, Nuclear Type 20
Elevated hepatic transaminase, Dicarboxylic aciduria, Microvesicular hepatic steatosis, Hepatic f... OMIM:611126
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Abnormal mitochondrial shape ORPHA:485421
Lipodystrophy, Congenital Generalized, Type 2
Cirrhosis, Elevated hepatic transaminase, Hepatic steatosis, Reduced intraabdominal adipose tissu... OMIM:269700
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Hematuria, Acute kidney injury, Increased blood urea nitrogen, Anuria, Elevated circulating creat... OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Hematuria, Acute kidney injury, Increased blood urea nitrogen, Anuria, Elevated circulating creat... OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Hematuria, Acute kidney injury, Increased blood urea nitrogen, Anuria, Elevated circulating creat... OMIM:612925
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Hematuria, Acute kidney injury, Increased blood urea nitrogen, Anuria, Elevated circulating creat... OMIM:612924
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Hematuria, Acute kidney injury, Increased blood urea nitrogen, Anuria, Elevated circulating creat... OMIM:612926
3-Methylglutaconic Aciduria Type 7
Elevated hepatic transaminase, Hepatic steatosis, Renal cyst, Renal insufficiency, Nephrocalcinos... ORPHA:445038
Mucopolysaccharidosis-Plus Syndrome
Enlarged kidney, Focal segmental glomerulosclerosis, Macrovesicular hepatic steatosis, Flexion co... OMIM:617303
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease
Exocrine pancreatic insufficiency, Hyperechogenic pancreas, Achilles tendon contracture, Hepatome... ORPHA:456312
Neutral Lipid Storage Disease With Ichthyosis
Abnormal circulating creatine kinase concentration, Micronodular cirrhosis, Elevated hepatic tran... ORPHA:98907
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency
Increased mitochondrial number ORPHA:263297
Crimean-Congo Hemorrhagic Fever
Jaundice, Elevated hepatic transaminase, Hepatic steatosis ORPHA:99827
Dysbetalipoproteinemia
Hypercholesterolemia, Hepatic steatosis, Renal steatosis, Acute pancreatitis, Hepatomegaly, Hyper... ORPHA:412
Thrombotic Thrombocytopenic Purpura, Hereditary
Abnormal renal physiology, Increased blood urea nitrogen, Elevated circulating creatinine concent... OMIM:274150
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Elevated hepatic transaminase, Microvesicular hepatic steatosis, Aminoaciduria, Cholestasis, Chol... OMIM:124000
Isobutyryl-Coa Dehydrogenase Deficiency
Decreased plasma carnitine, Elevated circulating acylcarnitine concentration, Dicarboxylic aciduria ORPHA:79159
Cryoglobulinemia, Familial Mixed
Abnormal renal physiology, Hematuria, Elevated circulating creatinine concentration, Chronic kidn... OMIM:123550
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Increased hepatocellular lipid droplets, Microvesicular hepatic steatosis OMIM:220111
Optic Atrophy-Ataxia-Peripheral Neuropathy-Global Developmental Delay Syndrome
Abnormal mitochondrial shape ORPHA:543470
19P13.12 Microdeletion Syndrome
Hepatic steatosis, Arthrogryposis multiplex congenita, Hyperlipidemia, Hypospadias ORPHA:254346
Isobutyryl-Coa Dehydrogenase Deficiency
Decreased plasma carnitine OMIM:611283
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Tubulointerstitial fibrosis, Renal hypoplasia, Elevated circulating creatinine concentration, Glo... OMIM:174000
Progeria-Short Stature-Pigmented Nevi Syndrome
Lack of facial subcutaneous fat, Elevated hepatic transaminase, Hepatic steatosis, Multiple joint... ORPHA:2959
Primary Hyperoxaluria Type 1
Dysuria, Hematuria, Recurrent urinary tract infections, Enuresis, Hyperoxaluria, Decreased glomer... ORPHA:93598
Reticular Dysgenesis
Abnormality of mitochondrial metabolism ORPHA:33355
Medullary Thyroid Carcinoma
Abnormal liver parenchyma morphology ORPHA:1332
Pearson Syndrome
Hypophosphatemia, Hypocalcemia, Lacticaciduria, Elevated hepatic transaminase, Exocrine pancreati... ORPHA:699
Seckel Syndrome 10
Hepatic steatosis, Elevated hemoglobin A1c, Elevated circulating alanine aminotransferase concent... OMIM:617253
Familial Chylomicronemia Syndrome
Hepatic steatosis, Recurrent pancreatitis, Acute pancreatitis, Jaundice, Increased circulating ch... ORPHA:444490
Renal Cysts And Diabetes Syndrome
Abnormal renal morphology, Exocrine pancreatic insufficiency, Elevated hepatic transaminase, Decr... OMIM:137920
Juvenile Nephropathic Cystinosis
Hypophosphatemia, Hypocalcemia, Renal phosphate wasting, Low-molecular-weight proteinuria, Hypour... ORPHA:411634
Diaphanospondylodysostosis
Nephroblastomatosis, Nephrogenic rest, Enlarged kidney, Cystic renal dysplasia, Abnormal liver lo... OMIM:608022
Dilated Cardiomyopathy With Ataxia
Elevated hepatic transaminase, Microvesicular hepatic steatosis, Elevated circulating glutaric ac... ORPHA:66634
Arima Syndrome
Nephronophthisis, Tubulointerstitial fibrosis, Hepatic steatosis, Hepatic fibrosis, Renal tubular... OMIM:243910
Abetalipoproteinemia
Cirrhosis, Elevated hepatic transaminase, Hypotriglyceridemia, Hepatic steatosis, Hyperbilirubine... ORPHA:14
Rajab Interstitial Lung Disease With Brain Calcifications 1
Hypocalcemia, Cirrhosis, Elevated hepatic transaminase, Hepatic steatosis, Cholestasis, Inguinal ... OMIM:613658
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hypercholesterolemia, Tubulointerstitial fibrosis, Enlarged kidney, Hepatocellular adenoma, Hepat... ORPHA:79259
Lysosomal Acid Lipase Deficiency
Fatal liver failure in infancy, Hypercholesterolemia, Microvesicular hepatic steatosis, Elevated ... ORPHA:275761
Cimdag Syndrome
Hepatomegaly, Lipodystrophy, Microvesicular hepatic steatosis, Cholelithiasis OMIM:619273
Monosomy 13Q34
Infantile hypercalcemia, Hepatic steatosis, Fetal pyelectasis ORPHA:96168
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2
Hyperammonemia, Umbilical hernia, Inguinal hernia, Hyperalaninemia, Hypospadias, Abnormality of m... OMIM:614052
3-Hydroxy-3-Methylglutaric Aciduria
Hyperammonemia, Elevated hepatic transaminase, 3-Methylglutaric aciduria, Hyperuricemia, Acute pa... ORPHA:20
Combined Oxidative Phosphorylation Deficiency 27
Microvesicular hepatic steatosis OMIM:616672
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18
Hepatomegaly, Hepatic steatosis, Elevated circulating creatine kinase concentration, Elevated hep... OMIM:615356
Neurodegeneration Due To 3-Hydroxyisobutyryl-Coa Hydrolase Deficiency
Abnormality of mitochondrial metabolism ORPHA:88639
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1
Hepatic steatosis, Flexion contracture, Pancreatic fibrosis, Hepatic fibrosis, Hepatomegaly OMIM:616263
D-Bifunctional Protein Deficiency
Elevated hepatic transaminase, Increased circulating very long-chain fatty acid concentration, He... OMIM:261515
Neutral Lipid Storage Myopathy
Abnormal circulating creatine kinase concentration, Elevated hepatic transaminase, Chronic pancre... ORPHA:98908
Mosaic Trisomy 9
Camptodactyly of finger, Multiple renal cysts, Horseshoe kidney, Abnormal liver lobulation, Renal... ORPHA:99776
Mitochondrial Trifunctional Protein Deficiency
Hypocalcemia, Cholestasis, Chronic hepatic failure, Diffuse hepatic steatosis ORPHA:746
Visceral Steatosis, Congenital
Hepatic steatosis, Jaundice, Renal steatosis, Hypocalcemia OMIM:228100
Autosomal Dominant Progressive External Ophthalmoplegia
Elevated hepatic transaminase, Abnormality of the mitochondrion, Nocturia, Elevated circulating c... ORPHA:254892
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Micronodular cirrhosis, Microvesicular hepatic steatosis, Elevated hepatic transaminase, Hypotrig... ORPHA:404454
Hereditary Arterial And Articular Multiple Calcification Syndrome
Decreased serum creatinine ORPHA:289601
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Cellulitis, Hepatomegaly, Splenomegaly, Deficiency or absence of cytochrome b(-245), Liver abscess OMIM:233690
Granulomatous Disease, Chronic, X-Linked
Cellulitis, Hepatomegaly, Splenomegaly, Deficiency or absence of cytochrome b(-245), Liver abscess OMIM:306400
Manganese Poisoning
Abnormality of mitochondrial metabolism ORPHA:306682
Mandibuloacral Dysplasia Progeroid Syndrome
Elevated hepatic transaminase, Focal segmental glomerulosclerosis, Elevated hemoglobin A1c, Flexi... OMIM:619127
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Azotemia, Renal hypoplasia, Hepatic steatosis, Flexion contracture, Micropenis OMIM:619321
Aromatase Deficiency
Hepatic steatosis, Hyperlipidemia ORPHA:91
Sarcoidosis
Renal insufficiency, Scarring, Hepatomegaly, Hypercalciuria, Decreased liver function, Tubulointe... ORPHA:797
Turner Syndrome
Cirrhosis, Horseshoe kidney, Elevated hepatic transaminase, Hepatic steatosis, Atypical scarring ... ORPHA:881
Mosaic Monosomy X
Cirrhosis, Horseshoe kidney, Elevated hepatic transaminase, Hepatic steatosis, Atypical scarring ... ORPHA:99228
Monosomy X
Cirrhosis, Horseshoe kidney, Elevated hepatic transaminase, Hepatic steatosis, Atypical scarring ... ORPHA:99226
Turner Syndrome Due To Structural X Chromosome Anomalies
Cirrhosis, Horseshoe kidney, Elevated hepatic transaminase, Hepatic steatosis, Atypical scarring ... ORPHA:99413
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome
Urinary incontinence, Abnormality of mitochondrial metabolism ORPHA:314404
1P36 Deletion Syndrome
Camptodactyly of finger, Abnormality of the kidney, Hepatic steatosis, Renal cyst, Hydronephrosis... ORPHA:1606
Atypical Werner Syndrome
Renal neoplasm, Chondrocalcinosis, Hepatic steatosis, Lipoatrophy, Glycosuria, Hypertriglyceridem... ORPHA:79474
Wiedemann-Rautenstrauch Syndrome
Camptodactyly of finger, Congenital generalized lipodystrophy, Dilatation of renal calices, Hepat... ORPHA:3455
Alström Syndrome
Recurrent urinary tract infections, Abnormal liver physiology, Chronic kidney disease, Dorsocervi... ORPHA:64
Homozygous Familial Hypercholesterolemia
Hypercholesterolemia, Renal artery stenosis, Hepatic steatosis, Renal steatosis, Increased LDL ch... ORPHA:391665
Pmm2-Cdg
Abnormal renal tubule morphology, Multiple renal cysts, Elevated hepatic transaminase, Abnormal s... ORPHA:79318

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Acad8

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 Acad8.

No publications found that use IMPC mice or data for Acad8.

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MGI Allele Allele Type Produced
Acad8tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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