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Gene: Iars1 MGI:2145219

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Registered for phenotyping at IMPC

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

Gene Summary

Name:
isoleucyl-tRNA synthetase 1
Synonyms:
2510016L12Rik,  E430001P04Rik,  Iars

Order Alleles

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

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.

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 Iars1 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 Iars1 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Small for gestational age, Elevated circulating aspartate aminotransferase concentration, Intrahe... OMIM:617093
Growth Delay-Intellectual Disability-Hepatopathy Syndrome
Elevated hepatic transaminase, Cholestasis, Hepatosplenomegaly, Hepatic fibrosis, Hepatic failure... ORPHA:541423

The table below shows human diseases predicted to be associated to Iars1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Fatty Liver Disease, Susceptibility To, 2
Hepatic steatosis OMIM:613387
Fatty Liver Disease, Susceptibility To, 1
Hepatic steatosis OMIM:613282
Hypertriglyceridemia, Transient Infantile
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Hepatic fibrosis... OMIM:614480
Glycogen Storage Disease Vi
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Failure to thrive in infancy, ... OMIM:232700
Combined Oxidative Phosphorylation Deficiency 16
Microvesicular hepatic steatosis, Elevated circulating alanine aminotransferase concentration, El... OMIM:615395
Diarrhea 13
Elevated hepatic transaminase, Failure to thrive, Hepatic steatosis OMIM:620357
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial
Hepatic failure, Hepatic steatosis OMIM:261650
Obesity And Hypopigmentation
Hepatic steatosis, Obesity OMIM:620195
Idiopathic Copper-Associated Cirrhosis
Hepatic steatosis, Copper accumulation in liver, Cirrhosis ORPHA:209919
Congenital Disorder Of Glycosylation, Type Iip
Elevated hepatic transaminase, Hypercholesterolemia, Hepatic steatosis, Decreased liver function OMIM:616829
Morbid Obesity And Spermatogenic Failure
Hypercholesterolemia, Hypertriglyceridemia, Hepatic steatosis, Obesity OMIM:615703
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee
Elevated hepatic transaminase, Hepatic steatosis OMIM:618400
Neutral Lipid Storage Disease With Myopathy
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Increased muscle lipid content... OMIM:610717
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome
Hypertriglyceridemia, Hepatic steatosis ORPHA:436182
Patent Ductus Venosus
Hepatic steatosis, Decreased liver function OMIM:601466
Congenital Disorder Of Glycosylation, Type Iir
Elevated hepatic transaminase, Hepatomegaly, Jaundice, Micronodular cirrhosis, Decreased liver fu... OMIM:301045
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Hypertriglyceridemia, Hepatitis, Cholestasis, Obesity, Acute hepatic steatosis, Cholesterol galls... ORPHA:209902
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... OMIM:619048
Combined Oxidative Phosphorylation Deficiency 34
Hepatomegaly, Failure to thrive, Hepatic failure, Hepatic steatosis OMIM:617872
Lipodystrophy, Congenital Generalized, Type 3
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Hepatosplenomegaly, Hypercholesterolemia, Hepat... OMIM:612526
Citrullinemia, Type Ii, Adult-Onset
Hypertriglyceridemia, Portal inflammation, Elevated circulating alanine aminotransferase concentr... OMIM:603471
Cholesteryl Ester Storage Disease
Acute hepatic failure, Hepatomegaly, Failure to thrive, Hypertriglyceridemia, Elevated circulatin... OMIM:278000
Short Chain Acyl-Coa Dehydrogenase Deficiency
Failure to thrive, Hepatic steatosis ORPHA:26792
Infantile Liver Failure Syndrome 1
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Failure to thrive, Hepatic st... OMIM:615438
Triokinase And Fmn Cyclase Deficiency Syndrome
Hepatomegaly, Failure to thrive in infancy, Elevated circulating alanine aminotransferase concent... OMIM:618805
Congenital Macroglossia
Abnormal hepatic glycogen storage ORPHA:2430
Dietary Iron Overload Disease
Hepatomegaly, Viral hepatitis, Hepatocellular carcinoma, Micronodular cirrhosis, Peritonitis, Abn... ORPHA:139507
Wilson Disease
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Jaundice, Hepat... ORPHA:905
Familial Partial Lipodystrophy, Köbberling Type
Hepatomegaly, Hepatic steatosis, Pancreatitis ORPHA:79084
Mitochondrial Complex I Deficiency, Nuclear Type 11
Hepatomegaly, Failure to thrive, Macrovesicular hepatic steatosis OMIM:618234
Peroxisomal Acyl-Coa Oxidase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Very long chain fatty acid accumulation, Diffuse hep... OMIM:264470
Rotor Syndrome
Jaundice, Storage in hepatocytes, Intermittent jaundice ORPHA:3111
Plin1-Related Familial Partial Lipodystrophy
Hepatic steatosis, Hypertriglyceridemia, Hepatic fibrosis ORPHA:280356
Chylomicron Retention Disease
Elevated hepatic transaminase, Hypertriglyceridemia, Steatorrhea, Hypocholesterolemia, Increased ... ORPHA:71
Combined Oxidative Phosphorylation Deficiency 9
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... OMIM:614582
Gracile Syndrome
Hepatic steatosis, Cirrhosis, Cholestasis, Elevated hepatic iron concentration ORPHA:53693
Parenteral Nutrition-Associated Cholestasis
Elevated hepatic transaminase, Hepatomegaly, Small for gestational age, Portal hypertension, Bili... ORPHA:567983
Lipodystrophy, Familial Partial, Type 4
Hypertriglyceridemia, Hepatic steatosis OMIM:613877
Congenital Bile Acid Synthesis Defect Type 2
Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Failure to thrive, Jaundice, C... ORPHA:79303
Hemochromatosis, Type 4
Hepatomegaly, Hepatic steatosis, Cirrhosis OMIM:606069
Mitochondrial Complex Iv Deficiency, Nuclear Type 6
Hepatic steatosis OMIM:615119
Combined Oxidative Phosphorylation Deficiency 21
Hepatic steatosis OMIM:615918
Acquired Partial Lipodystrophy
Hepatic steatosis ORPHA:79087
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Fulminant hepatic failure, Hepatomegaly, Elevated circulating aspartate aminotransferase concentr... OMIM:618528
Ddost-Cdg
Elevated hepatic transaminase, Failure to thrive, Hepatic steatosis ORPHA:300536
Combined Oxidative Phosphorylation Deficiency 19
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Microvesicular hepat... OMIM:615595
Lipodystrophy, Familial Partial, Type 5
Hepatomegaly, Hypertriglyceridemia, Hepatic steatosis OMIM:615238
Lipodystrophy, Familial Partial, Type 6
Hyperlipidemia, Hepatic steatosis, Abdominal obesity OMIM:615980
Lipodystrophy, Partial, Acquired, Susceptibility To
Hepatic steatosis OMIM:608709
Citrullinemia, Type Ii, Neonatal-Onset
Hypertriglyceridemia, Elevated circulating aspartate aminotransferase concentration, Microvesicul... OMIM:605814
Bardet-Biedl Syndrome 19
Hepatic steatosis, Obesity OMIM:615996
Infantile Liver Failure Syndrome 3
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Jaundice, Chole... OMIM:618641
Combined Oxidative Phosphorylation Deficiency 52
Pancreatitis, Elevated circulating alanine aminotransferase concentration, Hepatic steatosis, Ele... OMIM:619386
Carnitine Deficiency, Systemic Primary
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Microvesicular hepat... OMIM:212140
Adrenomyodystrophy
Failure to thrive, Hepatic steatosis ORPHA:977
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Failure to thrive, Hepatic steatosis, Decreased liver function ORPHA:70472
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Portal hypertension, Splenomegaly... OMIM:251880
Akt2-Related Familial Partial Lipodystrophy
Hepatomegaly, Hypertriglyceridemia, Hepatic steatosis ORPHA:79085
Carnitine Palmitoyltransferase I Deficiency
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating aspartate aminotransferase conc... OMIM:255120
Severe Neurodegenerative Syndrome With Lipodystrophy
Hepatomegaly, Hypertriglyceridemia, Hepatic steatosis, Cirrhosis ORPHA:363400
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Increased sarcoplasmic glycoge... ORPHA:264580
Rajab Interstitial Lung Disease With Brain Calcifications 2
Elevated hepatic transaminase, Hypertriglyceridemia, Hepatic steatosis, Hepatosplenomegaly OMIM:619013
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Cachexia, Decreased liver function, Hepatic steatosis ORPHA:42
Familial Chylomicronemia Syndrome
Acute pancreatitis, Hypertriglyceridemia, Jaundice, Hyperlipidemia, Hepatosplenomegaly, Recurrent... ORPHA:444490
Hypermethioninemia Due To Adenosine Kinase Deficiency
Elevated circulating alanine aminotransferase concentration, Cholestasis, Portal fibrosis, Failur... OMIM:614300
Glycogen Storage Disease Ixc
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Bile duct prolif... OMIM:613027
3-Methylglutaconic Aciduria, Type V
Microvesicular hepatic steatosis, Failure to thrive, Elevated circulating alanine aminotransferas... OMIM:610198
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Small for gestational age, Elevated circulating aspartate aminotransferase concentration, Intrahe... OMIM:617093
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Elevated hepatic transaminase, Hepatomegaly, Macrovesicular hepatic steatosis OMIM:600649
Cidec-Related Familial Partial Lipodystrophy
Hepatomegaly, Hypertriglyceridemia, Hepatic steatosis, Pancreatitis ORPHA:435651
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Elevated circulating alanine a... OMIM:615381
Congenital Generalized Lipodystrophy
Hepatomegaly, Hypertriglyceridemia, Cirrhosis, Hypercholesterolemia, Failure to thrive, Hepatic s... ORPHA:528
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Hepatomegaly, Elevated circulating alanine aminotransferase concentration, Increased hepatic echo... OMIM:261680
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of
Elevated hepatic transaminase, Hepatomegaly, Hepatic steatosis OMIM:201450
Liver Failure, Infantile, Transient
Acute hepatic failure, Elevated hepatic transaminase, Hepatomegaly, Microvesicular hepatic steato... OMIM:613070
Citrullinemia Type Ii
Elevated hepatic transaminase, Hepatomegaly, Decreased body mass index, Hypertriglyceridemia, Hyp... ORPHA:247585
3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Fulminant hepatic failure, Hepatic steatosis, Hepatic necrosis OMIM:231530
Interstitial Lung And Liver Disease
Hepatomegaly, Failure to thrive, Elevated circulating aspartate aminotransferase concentration, E... OMIM:615486
Chanarin-Dorfman Syndrome
Hepatomegaly, Hepatic steatosis OMIM:275630
Dysbetalipoproteinemia
Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Obesity, Xanthelasma, Hypercholesterolemi... ORPHA:412
Immunodeficiency 47
Accessory spleen, Hepatomegaly, Elevated hepatic transaminase, Failure to thrive, Elevated circul... OMIM:300972
Lipodystrophy, Familial Partial, Type 3
Hypertriglyceridemia, Hepatic steatosis, Cirrhosis OMIM:604367
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Acute hepatic failure, Hepatomegaly, Failure to thrive, Elevated circulating aspartate aminotrans... OMIM:256810
Macrocephaly-Intellectual Disability-Autism Syndrome
Hepatic steatosis ORPHA:210548
Dpm1-Cdg
Elevated hepatic transaminase, Hepatomegaly, Hepatosplenomegaly, Hepatic fibrosis, Failure to thr... ORPHA:79322
Mitochondrial Neurogastrointestinal Encephalomyopathy
Elevated hepatic transaminase, Cachexia, Weight loss, Macrovesicular hepatic steatosis, Cirrhosis ORPHA:298
Neutral Lipid Storage Disease With Ichthyosis
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Micronodular cirrhosis, Obesit... ORPHA:98907
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Accessory spleen, Hepatomegaly, Hypertriglyceridemia, Failure to thrive in infancy, Microvesicula... OMIM:619418
Autoimmune Hepatitis
Elevated hepatic transaminase, Viral hepatitis, Diffuse hepatic steatosis, Splenomegaly, Fulminan... ORPHA:2137
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Hepatomegaly, Periportal fibrosis, Hepatic steatosis, Hepatocellular necrosis OMIM:201475
Pparg-Related Familial Partial Lipodystrophy
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Cirrhosis, Hepatic steatosis, Pancreatitis ORPHA:79083
Familial Partial Lipodystrophy, Dunnigan Type
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Hepatic steatosis, Pancreatitis ORPHA:2348
Osteootohepatoenteric Syndrome
Microvesicular hepatic steatosis, Cholestasis, Weight loss, Portal fibrosis, Hepatic fibrosis, Pr... OMIM:619377
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency
Acute hepatic steatosis, Failure to thrive OMIM:210200
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Elevated hepatic transaminase, Hepatomegaly, Hepatic steatosis ORPHA:369840
Lipe-Related Familial Partial Lipodystrophy
Hepatomegaly, Hypertriglyceridemia, Hepatic steatosis ORPHA:435660
Porphyria Cutanea Tarda
Elevated hepatic transaminase, Viral hepatitis, Hepatocellular carcinoma, Portal inflammation, Ch... ORPHA:101330
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form
Elevated hepatic transaminase, Hepatomegaly, Hepatic failure, Hepatic steatosis ORPHA:228305
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency
Failure to thrive, Hepatic steatosis, Pancreatitis OMIM:236200
Fanconi-Bickel Syndrome
Hepatomegaly, Failure to thrive, Hypertriglyceridemia, Elevated circulating aspartate aminotransf... ORPHA:2088
Acyl-Coa Dehydrogenase 9 Deficiency
Acute hepatic failure, Failure to thrive, Hepatic steatosis, Elevated hepatic transaminase ORPHA:99901
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Acute hepatic failure, Elevated hepatic transaminase, Increased circulating free fatty acid level... ORPHA:71212
Aicardi-Goutieres Syndrome 9
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Portal hypertension, Hepatosplen... OMIM:619487
Congenital Disorder Of Glycosylation, Type It
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating aspartate aminotransferase conc... OMIM:614921
Combined Oxidative Phosphorylation Deficiency 12
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... OMIM:614924
Alstrom Syndrome
Elevated hepatic transaminase, Hepatomegaly, Chronic active hepatitis, Hypertriglyceridemia, Trun... OMIM:203800
Growth Delay-Intellectual Disability-Hepatopathy Syndrome
Elevated hepatic transaminase, Cholestasis, Hepatosplenomegaly, Hepatic fibrosis, Hepatic failure... ORPHA:541423
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Hepatic steatosis ORPHA:52430
Lysosomal Acid Lipase Deficiency
Elevated hepatic transaminase, Fatal liver failure in infancy, Hypertriglyceridemia, Failure to t... ORPHA:275761
Lipodystrophy, Congenital Generalized, Type 4
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Failure to thriv... OMIM:613327
Immunodeficiency 40
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Macrovesicular hepat... OMIM:616433
19P13.12 Microdeletion Syndrome
Hyperlipidemia, Hepatic steatosis, Obesity ORPHA:254346
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Paradoxical increased cortisol secretion on dexamethasone suppression test, Hyperlipidemia, Incre... ORPHA:189427
Carnitine-Acylcarnitine Translocase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Hepatic steatosis OMIM:212138
Combined Oxidative Phosphorylation Deficiency 27
Microvesicular hepatic steatosis, Failure to thrive OMIM:616672
Neutral Lipid Storage Myopathy
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Very long chain fatty acid acc... ORPHA:98908
Combined Oxidative Phosphorylation Deficiency 11
Hepatomegaly, Hepatic steatosis, Decreased liver function OMIM:614922
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Elevated hepatic transaminase, Failure to thrive, Microvesicular hepatic steatosis, Jaundice, Cho... OMIM:617156
Mitochondrial Complex I Deficiency, Nuclear Type 20
Elevated hepatic transaminase, Microvesicular hepatic steatosis, Hepatic failure OMIM:611126
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy
Hepatomegaly, Failure to thrive, Diffuse hepatic steatosis, Decreased liver function ORPHA:436271
Combined Oxidative Phosphorylation Deficiency 37
Elevated hepatic transaminase, Bile duct proliferation, Macrovesicular hepatic steatosis, Decreas... OMIM:618329
Multiple Acyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Hepatic periportal necrosis, Hepatic steatosis, Jaundice OMIM:231680
Acquired Generalized Lipodystrophy
Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Cirrhosis, Hepatic steatosis ORPHA:79086
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1
Hepatomegaly, Pancreatic fibrosis, Hepatic fibrosis, Steatorrhea, Failure to thrive, Hepatic stea... OMIM:616263
Congenital Disorder Of Glycosylation, Type Ia
Elevated hepatic transaminase, Hepatomegaly, Steatorrhea, Hepatic fibrosis, Hypocholesterolemia, ... OMIM:212065
Progeria-Short Stature-Pigmented Nevi Syndrome
Elevated hepatic transaminase, Neoplasm of the pancreas, Hepatic steatosis, Small for gestational... ORPHA:2959
D-Bifunctional Protein Deficiency
Elevated hepatic transaminase, Hepatomegaly, Very long chain fatty acid accumulation, Splenomegal... OMIM:261515
Seckel Syndrome 10
Acute pancreatitis, Hypertriglyceridemia, Elevated circulating aspartate aminotransferase concent... OMIM:617253
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating aspartate aminotransferase conc... OMIM:608836
Mitochondrial Trifunctional Protein Deficiency
Diffuse hepatic steatosis, Failure to thrive in infancy, Chronic hepatic failure, Cholestasis ORPHA:746
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Failure to thrive in infancy, ... ORPHA:247598
Monosomy 13Q34
Hepatic steatosis, Obesity ORPHA:96168
Fructose-1,6-Bisphosphatase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Hepatic steatosis ORPHA:348
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Hepatomegaly, Decreased liver function, Increased intramyocellular lipid droplets, Increased hepa... OMIM:220110
3-Methylglutaconic Aciduria Type 7
Elevated hepatic transaminase, Hepatic steatosis ORPHA:445038
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hepatomegaly, Failure to thrive, Hypertriglyceridemia, Hyperlipidemia, Hepatocellular adenoma, Xa... ORPHA:79259
Aromatase Deficiency
Eunuchoid habitus, Hyperlipidemia, Hepatic steatosis, Obesity ORPHA:91
Cimdag Syndrome
Microvesicular hepatic steatosis, Cholelithiasis, Hepatomegaly OMIM:619273
Abetalipoproteinemia
Elevated hepatic transaminase, Hepatomegaly, Steatorrhea, Hepatic fibrosis, Cirrhosis, Hypocholes... ORPHA:14
Wilson Disease
Acute hepatic failure, Hepatomegaly, Elevated circulating aspartate aminotransferase concentratio... OMIM:277900
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Hepatic steatosis, Pancreatitis ORPHA:280365
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Hepatomegaly, Hyperlipidemia, Hepatic calcification, Hepatic failure, Hepatic steatosis ORPHA:228308
Lipodystrophy, Familial Partial, Type 2
Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Hypercholesterolemia, Hepatic steatosis OMIM:151660
Rajab Interstitial Lung Disease With Brain Calcifications 1
Elevated hepatic transaminase, Small for gestational age, Slender build, Portal hypertension, Cho... OMIM:613658
3-Hydroxy-3-Methylglutaric Aciduria
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Jaundice, Lipid accumulation in ... ORPHA:20
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Acute hepatic failure, Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Microvesic... OMIM:203700
Immunodeficiency 87 And Autoimmunity
Hepatomegaly, Hypertriglyceridemia, Small for gestational age, Elevated circulating aspartate ami... OMIM:619573
Fructose Intolerance, Hereditary
Elevated hepatic transaminase, Hepatomegaly, Jaundice, Cirrhosis, Failure to thrive, Hepatic stea... OMIM:229600
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Elevated hepatic transaminase, Cholangitis, Microvesicular hepatic steatosis, Cholestasis, Peripo... OMIM:124000
3-Methylglutaconic Aciduria, Type Viib
Hepatic steatosis OMIM:616271
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Elevated hepatic transaminase, Hepatomegaly, Increased intramyocellular lipid droplets, Failure t... ORPHA:17
Pearson Syndrome
Elevated hepatic transaminase, Hepatomegaly, Pancreatic fibrosis, Small for gestational age, Sple... ORPHA:699
Mucopolysaccharidosis-Plus Syndrome
Splenomegaly, Hepatomegaly, Macrovesicular hepatic steatosis OMIM:617303
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Elevated hepatic transaminase, Jaundice, Aplasia/Hypoplasia of the pancreas, Abnormality of exocr... ORPHA:93111
Lipodystrophy, Congenital Generalized, Type 1
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Splenomega... OMIM:608594
Dilated Cardiomyopathy With Ataxia
Elevated hepatic transaminase, Microvesicular hepatic steatosis ORPHA:66634
Bloom Syndrome
Small for gestational age, Hepatic steatosis OMIM:210900
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18
Elevated hepatic transaminase, Hepatomegaly, Hepatic steatosis OMIM:615356
Congenital Disorder Of Glycosylation, Type Iiw
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating aspartate aminotransferase conc... OMIM:619525
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Elevated hepatic transaminase, Hepatomegaly, Small for gestational age, Nodular regenerative hype... ORPHA:404454
Lipodystrophy, Congenital Generalized, Type 2
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Splenomega... OMIM:269700
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Hepatomegaly, Microvesicular hepatic steatosis, Hepatosplenomegaly, Hepatocellular necrosis, Fail... OMIM:618278
Aicardi-Goutieres Syndrome 7
Hepatomegaly, Splenomegaly, Hepatitis, Weight loss, Hepatic steatosis OMIM:615846
Liver Disease, Severe Congenital
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Biliary hyperplasia, Intrahepatic... OMIM:619991
Arima Syndrome
Hepatic steatosis, Hepatic fibrosis, Cirrhosis, Hepatomegaly OMIM:243910
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2
Hepatomegaly, Large for gestational age, Microvesicular hepatic steatosis, Cirrhosis, Elevated he... OMIM:300868
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Elevated hepatic transaminase, Overweight, Jaundice, Obesity, Decreased body weight, Failure to t... OMIM:619475
Smith-Lemli-Opitz Syndrome
Hepatomegaly, Splenomegaly, Cholestatic liver disease, Cirrhosis, Hypocholesterolemia, Failure to... OMIM:270400
Intellectual Developmental Disorder, Autosomal Dominant 68
Hepatic steatosis OMIM:619934
1P36 Deletion Syndrome
Abnormality of the spleen, Obesity, Abnormality of the liver, Annular pancreas, Failure to thrive... ORPHA:1606
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Abdominal obesity, Hepatic steatosis OMIM:619321
Turner Syndrome Due To Structural X Chromosome Anomalies
Elevated hepatic transaminase, Failure to thrive in infancy, Biliary cirrhosis, Obesity, Cholesta... ORPHA:99413
Turner Syndrome
Elevated hepatic transaminase, Failure to thrive in infancy, Biliary cirrhosis, Obesity, Cholesta... ORPHA:881
Mosaic Monosomy X
Elevated hepatic transaminase, Failure to thrive in infancy, Biliary cirrhosis, Obesity, Cholesta... ORPHA:99228
Monosomy X
Elevated hepatic transaminase, Failure to thrive in infancy, Biliary cirrhosis, Obesity, Cholesta... ORPHA:99226
Atypical Werner Syndrome
Failure to thrive, Hypertriglyceridemia, Hepatic steatosis, Decreased body weight ORPHA:79474
Mandibuloacral Dysplasia Progeroid Syndrome
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Macrovesicular hepatic steatosis OMIM:619127
Ogden Syndrome
Microvesicular hepatic steatosis, Jaundice, Macrovesicular hepatic steatosis OMIM:300855
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Microvesicular hepatic steatosis, Increased hepatocellular lipid droplets, Failure to thrive, Sma... OMIM:220111
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Portal hypertension, Cholestasis, Hepatosplenomegaly, Failure to thrive, Hepatic steatosis OMIM:619503
Wiedemann-Rautenstrauch Syndrome
Failure to thrive, Hypertriglyceridemia, Hepatic steatosis, Slender build ORPHA:3455
Digeorge Syndrome
Splenomegaly, Cholelithiasis, Hepatic steatosis, Obesity OMIM:188400
Homozygous Familial Hypercholesterolemia
Hypercholesterolemia, Hyperlipidemia, Hepatic steatosis ORPHA:391665
Alström Syndrome
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Portal hypertension, Splenomeg... 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 Iars1

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 Iars1.

No publications found that use IMPC mice or data for Iars1.

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MGI Allele Allele Type Produced
Iars1em1(IMPC)Wtsi Deletion Mice

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