Gene Summary

Name:
aldehyde dehydrogenase 1 family, member L2
Synonyms:
D330038I09Rik

IMPC Data Collections

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.

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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

18 Images

Eye Morphology

Images Slit Lamp

18 Images

X-ray

XRay Images Skull Lateral Orientation

18 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

18 Images

Eye Morphology

Images Ophthalmoscopy

18 Images

X-ray

XRay Images Whole Body Lateral Orientation

18 Images

X-ray

XRay Images Hind Leg and Hip

18 Images

X-ray

XRay Images Whole Body Dorso Ventral

18 Images

Human diseases caused by Aldh1l2 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 Aldh1l2 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Hypertriglyceridemia, Transient Infantile
Hepatic steatosis, Splenomegaly, Hepatomegaly, Elevated hepatic transaminase, Hypertriglyceridemi... OMIM:614480
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee
Hepatic steatosis, Mildly elevated creatine kinase, Elevated hepatic transaminase OMIM:618400
Neutral Lipid Storage Disease With Myopathy
Hepatic steatosis, Hepatomegaly, Elevated circulating creatine kinase concentration, Elevated hep... OMIM:610717
Combined Oxidative Phosphorylation Deficiency 16
Microvesicular hepatic steatosis, Elevated hepatic transaminase OMIM:615395
Fatty Liver Disease, Nonalcoholic, Susceptibility To, 2
Hepatic steatosis OMIM:613387
Fatty Liver Disease, Nonalcoholic, Susceptibility To, 1
Hepatic steatosis OMIM:613282
Citrullinemia, Type Ii, Adult-Onset
Hepatic steatosis, Elevated circulating alanine aminotransferase concentration, Portal inflammati... OMIM:603471
Combined Oxidative Phosphorylation Deficiency 52
Hepatic steatosis, Elevated circulating alanine aminotransferase concentration, Elevated circulat... OMIM:619386
Congenital Disorder Of Glycosylation, Type Iip
Hepatic steatosis, Decreased liver function, Elevated hepatic transaminase, Hypercholesterolemia OMIM:616829
Congenital Disorder Of Glycosylation, Type Iir
Hepatic steatosis, Decreased liver function, Hepatomegaly, Jaundice, Elevated hepatic transaminas... OMIM:301045
Morbid Obesity And Spermatogenic Failure
Hepatic steatosis, Hypertriglyceridemia, Hypercholesterolemia OMIM:615703
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Generalized aminoaciduria, Hepatic steatosis, Hepatic failure, Portal hypertension, Periportal fi... OMIM:251880
Mitochondrial Complex Iv Deficiency, Nuclear Type 6
Hepatic steatosis OMIM:615119
Liver Failure, Infantile, Transient
Microvesicular hepatic steatosis, Hepatomegaly, Jaundice, Acute hepatic failure, Elevated hepatic... OMIM:613070
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome
Hepatic steatosis, Hypertriglyceridemia ORPHA:436182
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Hepatic steatosis, Elevated hepatic transaminase, Hepatomegaly, Abnormal circulating creatine kin... ORPHA:369840
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Hepatic steatosis, Decreased liver function, Elevated hepatic transaminase OMIM:617093
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial
Hepatic steatosis, Hepatic failure OMIM:261650
Combined Oxidative Phosphorylation Deficiency 19
Hepatic steatosis OMIM:615595
Lipodystrophy, Congenital Generalized, Type 3
Hepatic steatosis, Hepatosplenomegaly, Hypercholesterolemia, Splenomegaly, Hepatomegaly, Hypertri... OMIM:612526
Lysosomal Acid Lipase Deficiency
Hepatic steatosis, Hepatic failure, Elevated circulating alanine aminotransferase concentration, ... OMIM:278000
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Microvesicular hepatic steatosis, Hepatic failure, Cholestasis, Jaundice, Elevated hepatic transa... OMIM:617156
African Iron Overload
Viral hepatitis, Hepatic steatosis, Hepatic bridging fibrosis, Peritonitis, Abnormal pancreas mor... ORPHA:139507
Mitochondrial Complex I Deficiency, Nuclear Type 11
Macrovesicular hepatic steatosis, Hepatomegaly OMIM:618234
Plin1-Related Familial Partial Lipodystrophy
Hepatic steatosis, Hepatic fibrosis, Hypertriglyceridemia ORPHA:280356
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of
Hepatic steatosis, Elevated hepatic transaminase, Hepatomegaly, Hyperglycinuria OMIM:201450
Peroxisomal Acyl-Coa Oxidase Deficiency
Diffuse hepatic steatosis, Elevated hepatic transaminase, Hepatomegaly OMIM:264470
Combined Oxidative Phosphorylation Deficiency 34
Hepatic steatosis, Hepatic failure, Hepatomegaly OMIM:617872
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Hepatic steatosis, Elevated circulating alanine aminotransferase concentration, Hepatomegaly, Ele... OMIM:619048
Hypermethioninemia Due To Adenosine Kinase Deficiency
Hepatic steatosis, Cholestasis, Decreased liver function, Portal fibrosis, Elevated hepatic trans... OMIM:614300
Familial Partial Lipodystrophy, Köbberling Type
Hepatic steatosis, Hepatomegaly, Pancreatitis ORPHA:79084
Short Chain Acyl-Coa Dehydrogenase Deficiency
Hepatic steatosis ORPHA:26792
Lipodystrophy, Familial Partial, Type 6
Elevated circulating creatine kinase concentration, Hepatic steatosis, Hyperlipidemia OMIM:615980
Carnitine Palmitoyltransferase I Deficiency
Transient hyperlipidemia, Hepatic steatosis, Hepatomegaly, Elevated circulating creatine kinase c... OMIM:255120
Patent Ductus Venosus
Hepatic steatosis, Decreased liver function OMIM:601466
Hemochromatosis Type 4
Cirrhosis, Hepatic steatosis, Congenital hepatic fibrosis ORPHA:139491
Hemochromatosis, Type 4
Cirrhosis, Hepatic steatosis, Hepatomegaly OMIM:606069
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Hepatic steatosis, Cholestasis, Hypercholesterolemia, Cholesterol gallstones, Acute hepatic steat... ORPHA:209902
Acquired Partial Lipodystrophy
Hepatic steatosis ORPHA:79087
Lipodystrophy, Familial Partial, Type 4
Hepatic steatosis, Hypertriglyceridemia OMIM:613877
Severe Neurodegenerative Syndrome With Lipodystrophy
Cirrhosis, Hepatic steatosis, Hepatomegaly, Hypertriglyceridemia ORPHA:363400
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
Hepatic steatosis, Cholestasis, Hypercholesterolemia, Splenomegaly, Hepatomegaly, Elevated circul... ORPHA:370
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Microvesicular hepatic steatosis, Hepatomegaly, Acute hepatic failure, Prolonged neonatal jaundic... OMIM:256810
Triokinase And Fmn Cyclase Deficiency Syndrome
Hepatic steatosis, Elevated circulating alanine aminotransferase concentration, Hepatomegaly, Pan... OMIM:618805
Infantile Liver Failure Syndrome 1
Acute hepatic failure, Hepatic steatosis, Elevated hepatic transaminase, Hepatomegaly OMIM:615438
Interstitial Lung And Liver Disease
Hepatic steatosis, Elevated circulating alanine aminotransferase concentration, Hepatic failure, ... OMIM:615486
Infantile Liver Failure Syndrome 3
Hepatic steatosis, Cholestasis, Hepatic bridging fibrosis, Splenomegaly, Hepatomegaly, Jaundice, ... OMIM:618641
Congenital Bile Acid Synthesis Defect Type 2
Hepatic steatosis, Hepatic failure, Cholestasis, Hepatomegaly, Jaundice, Giant cell hepatitis, Pr... ORPHA:79303
Wilson Disease
Hepatic steatosis, Cirrhosis, Splenomegaly, Hepatomegaly, Jaundice, Acute hepatic failure, Hepati... ORPHA:905
Rajab Interstitial Lung Disease With Brain Calcifications 2
Hepatic steatosis, Hepatosplenomegaly, Elevated hepatic transaminase, Hypertriglyceridemia OMIM:619013
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Hepatic steatosis, Decreased liver function, Hepatomegaly, Elevated circulating creatine kinase c... ORPHA:42
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Hepatic steatosis, Decreased liver function ORPHA:70472
Combined Oxidative Phosphorylation Deficiency 12
Macrovesicular hepatic steatosis, Hepatomegaly, Cholestasis OMIM:614924
Multiple Acyl-Coa Dehydrogenase Deficiency
Generalized aminoaciduria, Hepatic steatosis, Hepatomegaly, Hepatic periportal necrosis, Jaundice OMIM:231680
Carnitine Deficiency, Systemic Primary
Hepatic steatosis, Elevated hepatic transaminase, Hepatomegaly, Decreased carnitine level in liver OMIM:212140
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hepatic steatosis, Cholestasis, Hypercholesterolemia, Splenomegaly, Hepatomegaly, Elevated circul... ORPHA:264580
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency
Homocystinuria, Hepatic steatosis, Methioninuria, Pancreatitis OMIM:236200
Lipe-Related Familial Partial Lipodystrophy
Hepatic steatosis, Hyperlipidemia, Hepatomegaly, Elevated circulating creatine kinase concentrati... ORPHA:435660
Idiopathic Copper-Associated Cirrhosis
Cirrhosis, Hepatic steatosis ORPHA:209919
Parenteral Nutrition-Associated Cholestasis
Cholelithiasis, Hepatic steatosis, Hepatic failure, Hyperlipidemia, Portal hypertension, Splenome... ORPHA:567983
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Elevated circulating creatine kinase concentration, Macrovesicular hepatic steatosis, Elevated he... OMIM:600649
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Hepatic steatosis, Periportal fibrosis, Hepatomegaly, Hepatocellular necrosis, Elevated circulati... OMIM:201475
Akt2-Related Familial Partial Lipodystrophy
Hepatic steatosis, Hyperlipidemia, Hepatomegaly, Hypertriglyceridemia ORPHA:79085
Adrenomyodystrophy
Hepatic steatosis OMIM:300270
Gracile Syndrome
Cirrhosis, Hepatic steatosis, Elevated hepatic iron concentration, Cholestasis ORPHA:53693
Cidec-Related Familial Partial Lipodystrophy
Hepatic steatosis, Hyperlipidemia, Hepatomegaly, Hypertriglyceridemia, Pancreatitis ORPHA:435651
Lipodystrophy, Familial Partial, Type 5
Hepatic steatosis, Hepatomegaly, Hypertriglyceridemia OMIM:615238
Combined Oxidative Phosphorylation Deficiency 9
Hepatic steatosis, Elevated circulating alanine aminotransferase concentration, Hepatomegaly, Ele... OMIM:614582
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Elevated circulating creatine kinase concentration, Hepatic steatosis ORPHA:52430
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Hepatic steatosis, Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia OMIM:615381
Dpm1-Cdg
Hepatic steatosis, Hepatosplenomegaly, Hepatomegaly, Elevated circulating creatine kinase concent... ORPHA:79322
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form
Hepatic steatosis, Hepatic failure, Hepatomegaly, Elevated circulating creatine kinase concentrat... ORPHA:228305
Chylomicron Retention Disease
Hepatic steatosis, Increased hepatocellular lipid droplets, Elevated hepatic transaminase, Hypoch... ORPHA:71
Combined Oxidative Phosphorylation Deficiency 21
Hepatic steatosis OMIM:615918
Ddost-Cdg
Hepatic steatosis, Elevated hepatic transaminase ORPHA:300536
Lipodystrophy, Familial Partial, Type 3
Cirrhosis, Hepatic steatosis, Hypertriglyceridemia OMIM:604367
Congenital Generalized Lipodystrophy
Hepatic steatosis, Hypercholesterolemia, Hepatomegaly, Hypertriglyceridemia, Cirrhosis ORPHA:528
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Elevated circulating alanine aminotransferase concentration, Elevated circulating creatinine conc... OMIM:608836
Citrullinemia Type Ii
Hepatic steatosis, Hyperlipidemia, Hypercholesterolemia, Hepatomegaly, Elevated hepatic transamin... ORPHA:247585
Pparg-Related Familial Partial Lipodystrophy
Hepatic steatosis, Splenomegaly, Hepatomegaly, Hypertriglyceridemia, Pancreatitis, Cirrhosis ORPHA:79083
Familial Partial Lipodystrophy, Dunnigan Type
Hepatic steatosis, Splenomegaly, Hepatomegaly, Hypertriglyceridemia, Pancreatitis ORPHA:2348
Congenital Disorder Of Glycosylation, Type It
Hepatic steatosis, Elevated circulating alanine aminotransferase concentration, Chronic hepatitis... OMIM:614921
Neutral Lipid Storage Disease With Ichthyosis
Hepatic steatosis, Hepatomegaly, Elevated hepatic transaminase, Hypertriglyceridemia, Abnormal ci... ORPHA:98907
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Microvesicular hepatic steatosis, Cholestasis, Cholangitis, Decreased liver function, Aminoacidur... OMIM:124000
Immunodeficiency 47
Exocrine pancreatic insufficiency, Hepatic steatosis, Elevated circulating alanine aminotransfera... OMIM:300972
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy
Aminoaciduria, Diffuse hepatic steatosis, Decreased liver function, Hepatomegaly ORPHA:436271
Porphyria Cutanea Tarda
Viral hepatitis, Hepatic steatosis, Periportal fibrosis, Chronic hepatitis, Portal inflammation, ... ORPHA:101330
Lipodystrophy, Congenital Generalized, Type 4
Hepatic steatosis, Splenomegaly, Hepatomegaly, Elevated circulating creatine kinase concentration... OMIM:613327
Autoimmune Hepatitis
Viral hepatitis, Sclerosing cholangitis, Cirrhosis, Splenomegaly, Jaundice, Elevated hepatic tran... ORPHA:2137
Carnitine-Acylcarnitine Translocase Deficiency
Elevated circulating creatine kinase concentration, Hepatic steatosis, Elevated hepatic transamin... OMIM:212138
Chanarin-Dorfman Syndrome
Hepatic steatosis, Hepatomegaly OMIM:275630
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Hepatic steatosis, Mildly elevated creatine kinase, Acute hepatic failure, Hepatic necrosis, Elev... ORPHA:71212
Primary Lipodystrophy
Hepatic steatosis, Hyperlipidemia, Splenomegaly, Pancreatitis, Cirrhosis ORPHA:90970
3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hepatic steatosis, Hepatic necrosis, Fulminant hepatic failure OMIM:231530
Combined Oxidative Phosphorylation Deficiency 11
Hepatic steatosis, Decreased liver function, Hepatomegaly OMIM:614922
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Microvesicular hepatic steatosis, Increased hepatocellular lipid droplets OMIM:220111
Mitochondrial Neurogastrointestinal Encephalomyopathy
Cirrhosis, Macrovesicular hepatic steatosis, Elevated hepatic transaminase ORPHA:298
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Hepatic steatosis, Hepatic failure, Hepatomegaly OMIM:261680
Acyl-Coa Dehydrogenase 9 Deficiency
Acute hepatic failure, Hepatic steatosis, Elevated creatine kinase after exercise, Elevated hepat... ORPHA:99901
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Exocrine pancreatic insufficiency, Microvesicular hepatic steatosis, Hepatic steatosis, Accessory... OMIM:619418
19P13.12 Microdeletion Syndrome
Hepatic steatosis, Hyperlipidemia ORPHA:254346
Growth Delay-Intellectual Disability-Hepatopathy Syndrome
Hepatic steatosis, Hepatic failure, Hepatosplenomegaly, Cholestasis, Elevated hepatic transaminas... ORPHA:541423
Aicardi-Goutieres Syndrome 9
Acute pancreatitis, Hepatic steatosis, Portal hypertension, Hepatosplenomegaly, Hepatomegaly, Ele... OMIM:619487
Alstrom Syndrome
Hepatic steatosis, Hepatomegaly, Elevated hepatic transaminase, Chronic active hepatitis, Hypertr... OMIM:203800
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hepatic steatosis, Hepatosplenomegaly, Cholestasis, Hypercholesterolemia, Hepatomegaly, Jaundice,... ORPHA:247598
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Aminoaciduria, Increased hepatocellular lipid droplets, Decreased liver function, Hepatomegaly OMIM:220110
3-Methylglutaconic Aciduria, Type V
Microvesicular hepatic steatosis OMIM:610198
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Hepatic steatosis, Hepatic failure, Hyperlipidemia, Hepatomegaly, Elevated circulating creatine k... ORPHA:228308
Congenital Disorder Of Glycosylation, Type Ia
Hepatic steatosis, Hepatomegaly, Elevated hepatic transaminase, Hypocholesterolemia, Hepatic fibr... OMIM:212065
Dysbetalipoproteinemia
Hepatic steatosis, Acute pancreatitis, Hypercholesterolemia, Hepatomegaly, Xanthelasma, Hypertrig... ORPHA:412
Acquired Generalized Lipodystrophy
Acute pancreatitis, Hepatic steatosis, Hepatomegaly, Hypertriglyceridemia, Cirrhosis ORPHA:79086
Adrenomyodystrophy
Hepatic steatosis ORPHA:977
Familial Chylomicronemia Syndrome
Hepatic steatosis, Acute pancreatitis, Hyperlipidemia, Recurrent pancreatitis, Hepatosplenomegaly... ORPHA:444490
Cushing Syndrome Due To Macronodular Adrenal Hyperplasia
Hepatic steatosis, Hyperlipidemia, Paradoxical increased cortisol secretion on dexamethasone supp... ORPHA:189427
Fructose Intolerance, Hereditary
Hepatic steatosis, Hepatomegaly, Jaundice, Elevated hepatic transaminase, Cirrhosis, Transient am... OMIM:229600
Progeria-Short Stature-Pigmented Nevi Syndrome
Hepatic steatosis, Elevated hepatic transaminase, Neoplasm of the pancreas ORPHA:2959
Fructose-1,6-Bisphosphatase Deficiency
Hepatic steatosis, Elevated hepatic transaminase, Hepatomegaly ORPHA:348
Primary Pigmented Nodular Adrenocortical Disease
Hepatic steatosis, Hyperlipidemia, Paradoxical increased cortisol secretion on dexamethasone supp... ORPHA:189439
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Hepatic steatosis, Splenomegaly, Hepatomegaly, Hypertriglyceridemia, Pancreatitis ORPHA:280365
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1
Hepatic steatosis, Hepatomegaly, Pancreatic fibrosis, Hepatic fibrosis, Steatorrhea OMIM:616263
Mitochondrial Complex I Deficiency, Nuclear Type 20
Microvesicular hepatic steatosis, Hepatic failure, Elevated hepatic transaminase OMIM:611126
3-Methylglutaconic Aciduria Type 7
Hepatic steatosis, Elevated hepatic transaminase ORPHA:445038
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Microvesicular hepatic steatosis, Hepatic failure, Bile duct proliferation, Hepatomegaly, Elevate... OMIM:203700
Neutral Lipid Storage Myopathy
Hepatic steatosis, Cholecystitis, Hepatomegaly, Chronic pancreatitis, Elevated hepatic transamina... ORPHA:98908
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18
Elevated circulating creatine kinase concentration, Hepatic steatosis, Elevated hepatic transamin... OMIM:615356
Combined Oxidative Phosphorylation Deficiency 27
Microvesicular hepatic steatosis OMIM:616672
Abetalipoproteinemia
Hepatic steatosis, Hepatomegaly, Elevated hepatic transaminase, Cirrhosis, Hypocholesterolemia, H... ORPHA:14
Osteootohepatoenteric Syndrome
Microvesicular hepatic steatosis, Cholestasis, Prolonged neonatal jaundice, Portal fibrosis, Hepa... OMIM:619377
D-Bifunctional Protein Deficiency
Hepatic steatosis, Cholestasis, Bile duct proliferation, Splenomegaly, Hepatomegaly, Elevated hep... OMIM:261515
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hepatic steatosis, Hyperlipidemia, Hypercholesterolemia, Increased hepatic glycogen content, Hepa... ORPHA:79259
Lysosomal Acid Lipase Deficiency
Microvesicular hepatic steatosis, Hepatic failure, Hepatosplenomegaly, Hepatic fibrosis, Hypercho... ORPHA:275761
Lipodystrophy, Familial Partial, Type 2
Acute pancreatitis, Hepatic steatosis, Hypercholesterolemia, Hepatomegaly, Hypertriglyceridemia OMIM:151660
Mucopolysaccharidosis-Plus Syndrome
Macrovesicular hepatic steatosis, Splenomegaly, Hepatomegaly OMIM:617303
Seckel Syndrome 10
Acute pancreatitis, Hepatic steatosis, Elevated circulating alanine aminotransferase concentratio... OMIM:617253
Monosomy 13Q34
Hepatic steatosis ORPHA:96168
Pearson Syndrome
Exocrine pancreatic insufficiency, Hypoplastic spleen, Hepatic steatosis, Hepatic failure, Abnorm... ORPHA:699
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Generalized aminoaciduria, Microvesicular hepatic steatosis, Splenomegaly, Hepatomegaly, Nodular ... ORPHA:404454
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency
Acute hepatic steatosis OMIM:210200
Lipodystrophy, Congenital Generalized, Type 1
Hepatic steatosis, Acute pancreatitis, Splenomegaly, Hepatomegaly, Elevated hepatic transaminase,... OMIM:608594
Cimdag Syndrome
Cholelithiasis, Microvesicular hepatic steatosis, Hepatomegaly OMIM:619273
Mitochondrial Trifunctional Protein Deficiency
Chronic hepatic failure, Diffuse hepatic steatosis, Cholestasis ORPHA:746
Combined Oxidative Phosphorylation Deficiency 37
Bile duct proliferation, Macrovesicular hepatic steatosis, Decreased liver function, Elevated hep... OMIM:618329
Lipodystrophy, Congenital Generalized, Type 2
Hepatic steatosis, Acute pancreatitis, Splenomegaly, Hepatomegaly, Elevated hepatic transaminase,... OMIM:269700
Immunodeficiency 87 And Autoimmunity
Hepatic steatosis, Elevated circulating alanine aminotransferase concentration, Hepatic failure, ... OMIM:619573
Dilated Cardiomyopathy With Ataxia
Microvesicular hepatic steatosis, Elevated hepatic transaminase ORPHA:66634
Arima Syndrome
Hepatic steatosis, Hepatic fibrosis, Hepatomegaly OMIM:243910
3-Hydroxy-3-Methylglutaric Aciduria
Acute pancreatitis, Lipid accumulation in hepatocytes, Hepatomegaly, Jaundice, Elevated hepatic t... ORPHA:20
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Abnormality of exocrine pancreas physiology, Hepatic steatosis, Jaundice, Elevated hepatic transa... ORPHA:93111
Congenital Disorder Of Glycosylation, Type Iiw
Hepatic steatosis, Elevated circulating alanine aminotransferase concentration, Bile duct prolife... OMIM:619525
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Hepatic steatosis, Elevated hepatic transaminase, Hepatomegaly ORPHA:17
Rajab Interstitial Lung Disease With Brain Calcifications 1
Hepatic steatosis, Portal hypertension, Cholestasis, Bile duct proliferation, Decreased liver fun... OMIM:613658
Aromatase Deficiency
Hepatic steatosis, Hyperlipidemia ORPHA:91
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Hepatomegaly, Microvesicular hepatic steatosis, Hepatosplenomegaly, Hepatocellular necrosis OMIM:618278
Turner Syndrome Due To Structural X Chromosome Anomalies
Hepatic steatosis, Biliary cirrhosis, Hyperlipidemia, Elevated hepatic transaminase, Cholestatic ... ORPHA:99413
Turner Syndrome
Hepatic steatosis, Biliary cirrhosis, Hyperlipidemia, Elevated hepatic transaminase, Cholestatic ... ORPHA:881
Mosaic Monosomy X
Hepatic steatosis, Biliary cirrhosis, Hyperlipidemia, Elevated hepatic transaminase, Cholestatic ... ORPHA:99228
Monosomy X
Hepatic steatosis, Biliary cirrhosis, Hyperlipidemia, Elevated hepatic transaminase, Cholestatic ... ORPHA:99226
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Hepatic steatosis, Elevated hepatic transaminase, Jaundice OMIM:619475
Mandibuloacral Dysplasia Progeroid Syndrome
Macrovesicular hepatic steatosis, Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia OMIM:619127
1P36 Deletion Syndrome
Annular pancreas, Hepatic steatosis, Abnormality of the liver, Abnormality of the spleen ORPHA:1606
Atypical Werner Syndrome
Hepatic steatosis, Hypertriglyceridemia ORPHA:79474
Visceral Steatosis, Congenital
Hepatic steatosis, Jaundice OMIM:228100
Wiedemann-Rautenstrauch Syndrome
Hepatic steatosis, Hypertriglyceridemia ORPHA:3455
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Hepatic steatosis, Portal hypertension, Hepatosplenomegaly, Cholestasis OMIM:619503
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Hepatic steatosis OMIM:619321
Digeorge Syndrome
Cholelithiasis, Hepatic steatosis, Splenomegaly OMIM:188400
Homozygous Familial Hypercholesterolemia
Hepatic steatosis, Hyperlipidemia, Hypercholesterolemia ORPHA:391665
Alström Syndrome
Hepatic steatosis, Hepatic failure, Hepatosplenomegaly, Hyperlipidemia, Portal hypertension, Cirr... ORPHA:64

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 Aldh1l2

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 Aldh1l2.

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

Title Journal IMPC Allele PubMed ID
Aldh1l2 knockout mouse metabolomics links the loss of the mitochondrial folate enzyme to deregulation of a lipid metabolism observed in rare human disorder. Human genomics (November 2020) Aldh1l2tm2a(KOMP)Wtsi PMC7654619

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MGI Allele Allele Type Produced
Aldh1l2tm2e(KOMP)Wtsi Targeted, non-conditional allele ES Cells
Aldh1l2tm43156(L1L2_gt0) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Aldh1l2tm2a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Aldh1l2em1(IMPC)KMPC Deletion Mice
Aldh1l2tm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells

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