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Gene: Them5 MGI:1913448

Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:

thioesterase superfamily member 5

Synonyms:

1110007B02Rik, 1110038F21Rik

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 Them5 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.

Human diseases associated with Them5 (0 diseases)
Human diseases predicted to be associated with Them5 (226 diseases)

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Them5 by phenotypic similarity.

Disease	Matching phenotypes	Source
Hyperlysinemia Due To Defect In Lysine Transport Into Mitochondria	Mitochondrial lysine transport defect, Hyperlysinemia	OMIM:238710
Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance	Increased mitochondrial number, Increased intramyocellular lipid droplets, Mildly elevated creati...	ORPHA:457050
Barth Syndrome	Abnormal mitochondrial morphology	ORPHA:111
Combined Oxidative Phosphorylation Deficiency 38	Decreased activity of mitochondrial ATP synthase complex, Decreased activity of mitochondrial com...	OMIM:618378
Combined Oxidative Phosphorylation Deficiency 19	Mitochondrial swelling, Elevated circulating aspartate aminotransferase concentration, Microvesic...	OMIM:615595
Mitochondrial Phosphate Carrier Deficiency	Abnormal mitochondrial shape	OMIM:610773
Charcot-Marie-Tooth Disease, Axonal, Mitochondrial Form, 1	Decreased activity of mitochondrial complex III, Mitochondrial hypertrophy, Decreased activity of...	OMIM:500013
Morbid Obesity And Spermatogenic Failure	Azoospermia, Increased LDL cholesterol concentration, Hepatic steatosis, Hypertriglyceridemia, Hy...	OMIM:615703
Hypertriglyceridemia, Transient Infantile	Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Hepatic steatosis, Spl...	OMIM:614480
Congenital Disorder Of Glycosylation, Type Iip	Elevated circulating hepatic transaminase concentration, Decreased liver function, Increased LDL ...	OMIM:616829
Muscular Dystrophy, Congenital, Megaconial Type	Mitochondrial hypertrophy, Elevated circulating creatine kinase concentration	OMIM:602541
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome	Mildly elevated creatine kinase, Mitochondrial swelling	ORPHA:397744
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency	Increased circulating free fatty acid level, Decreased circulating carnitine concentration, Eleva...	ORPHA:71212
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome	Mitochondrial hypertrophy, Elevated circulating creatine kinase concentration	OMIM:619518
Mitochondrial Complex Iv Deficiency, Nuclear Type 19	Increased mitochondrial number, Hyperglycinemia, Decreased activity of mitochondrial complex IV	OMIM:619063
Glycogen Storage Disease Vi	Elevated circulating hepatic transaminase concentration, Hyperlipidemia, Increased hepatic glycog...	OMIM:232700
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency	Increased circulating free fatty acid level, Elevated circulating hepatic transaminase concentrat...	OMIM:605911
Combined Oxidative Phosphorylation Deficiency 16	Elevated circulating aspartate aminotransferase concentration, Elevated circulating alanine amino...	OMIM:615395
Combined Oxidative Phosphorylation Deficiency 52	Elevated circulating aspartate aminotransferase concentration, Hyperglycinemia, Hepatic steatosis...	OMIM:619386
Fatty Liver Disease, Susceptibility To, 2	Hepatic steatosis	OMIM:613387
Fatty Liver Disease, Susceptibility To, 1	Hepatic steatosis	OMIM:613282
Mitochondrial Complex I Deficiency, Nuclear Type 29	Hyperalaninemia, Decreased activity of mitochondrial complex I, Mitochondrial swelling	OMIM:618250
Hsd10 Mitochondrial Disease	Elevated circulating tiglylglycine concentration, Abnormal mitochondrial morphology	OMIM:300438
Mitochondrial Complex Iv Deficiency, Nuclear Type 4	Elevated circulating aspartate aminotransferase concentration, Decreased plasma free carnitine, H...	OMIM:619048
Dna2-Related Mitochondrial Dna Deletion Syndrome	Decreased mitochondrial number, Elevated creatine kinase after exercise	ORPHA:352470
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee	Mildly elevated creatine kinase, Elevated circulating hepatic transaminase concentration, Hepatic...	OMIM:618400
Dystonia-Aphonia Syndrome	Abnormal mitochondrial shape	ORPHA:412217
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Abnormal mitochondrial shape, Elevated circulating hepatic transaminase concentration, Decreased ...	ORPHA:17
Fumarase Deficiency	Intrahepatic cholestasis, Hepatic failure, Mitochondrial swelling, Hyperbilirubinemia, Decreased ...	OMIM:606812
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect	Abnormal mitochondrial shape	ORPHA:485421
Citrullinemia, Type Ii, Adult-Onset	Hepatic fibrosis, Portal inflammation, Ballooning hepatocyte degeneration, Hepatic steatosis, Hyp...	OMIM:603471
Patent Ductus Venosus	Hypergalactosemia, Hyperammonemia, Hepatic steatosis, Decreased liver function	OMIM:601466
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome	Hepatic steatosis, Hypertriglyceridemia	ORPHA:436182
D-Glyceric Aciduria	Increased circulating free fatty acid level, Hyperglycinemia, Nonketotic hyperglycinemia	ORPHA:941
Citrullinemia, Type Ii, Neonatal-Onset	Hypermethioninemia, Intrahepatic cholestasis, Portal fibrosis, Decreased HDL cholesterol concentr...	OMIM:605814
Lipodystrophy, Congenital Generalized, Type 3	Hepatosplenomegaly, Splenomegaly, Hepatic steatosis, Hypocalcemia, Hypercholesterolemia, Hypertri...	OMIM:612526
Optic Atrophy-Ataxia-Peripheral Neuropathy-Global Developmental Delay Syndrome	Abnormal mitochondrial shape	ORPHA:543470
Idiopathic Copper-Associated Cirrhosis	Cirrhosis, Hepatic steatosis, Increased circulating copper concentration, Copper accumulation in ...	ORPHA:209919
Diarrhea 13	Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Hepatic steatosis	OMIM:620357
Spastic Paraplegia Type 7	Abnormal mitochondrial morphology	ORPHA:99013
Mitochondrial Complex I Deficiency, Nuclear Type 11	Hepatomegaly, Macrovesicular hepatic steatosis, Decreased activity of mitochondrial complex I	OMIM:618234
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Hypoalbuminemia, Depletion of mitochondrial DNA in liver, Hepatic failure, Periportal fibrosis, E...	OMIM:251880
Cholesteryl Ester Storage Disease	Hepatic bridging fibrosis, Hepatic fibrosis, Hepatic failure, Periportal fibrosis, Increased hepa...	OMIM:278000
Dietary Iron Overload Disease	Hepatic bridging fibrosis, Hepatic fibrosis, Hepatitis, Abnormal pancreas morphology, Hepatic per...	ORPHA:139507
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency	Acute hepatic steatosis, Hepatitis, Cholestasis, Increased LDL cholesterol concentration, Hepatic...	ORPHA:209902
Liver Failure, Infantile, Transient	Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Acute hepatic failure, ...	OMIM:613070
Congenital Disorder Of Glycosylation, Type Iir	Elevated circulating hepatic transaminase concentration, Micronodular cirrhosis, Decreased liver ...	OMIM:301045
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form	Elevated circulating acylcarnitine concentration, Hepatic failure, Elevated circulating hepatic t...	ORPHA:228305
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial	Hepatic failure, Hepatic steatosis	OMIM:261650
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Increased circulating free fatty acid level, Elevated circulating hepatic transaminase concentrat...	ORPHA:26793
Plin1-Related Familial Partial Lipodystrophy	Hepatic fibrosis, Hepatic steatosis, Hypertriglyceridemia	ORPHA:280356
Congenital Disorder Of Glycosylation, Type Iio	Cholestatic liver disease, Hepatic failure, Elevated circulating hepatic transaminase concentrati...	OMIM:616828
Frontotemporal Dementia With Motor Neuron Disease	Abnormal mitochondrial morphology	ORPHA:275872
Short Chain Acyl-Coa Dehydrogenase Deficiency	Elevated circulating acylcarnitine concentration, Hepatic steatosis	ORPHA:26792
Carnitine Deficiency, Systemic Primary	Decreased circulating carnitine concentration, Elevated circulating aspartate aminotransferase co...	OMIM:212140
Combined Oxidative Phosphorylation Deficiency 34	Hepatic failure, Elevated circulating creatinine concentration, Hepatic steatosis, Increased bloo...	OMIM:617872
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)	Hypoalbuminemia, Depletion of mitochondrial DNA in liver, Increased total bilirubin, Cholestasis,...	OMIM:618528
3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Fulminant hepatic failure, Hepatic steatosis, Hepatic necrosis, Decreased 3-hydroxyacyl-CoA dehyd...	OMIM:231530
Combined Oxidative Phosphorylation Deficiency 18	Increased mitochondrial number, Decreased activity of mitochondrial complex I	OMIM:615578
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of	Hepatomegaly, Decreased circulating carnitine concentration, Hepatic steatosis, Elevated circulat...	OMIM:201450
Combined Oxidative Phosphorylation Deficiency 21	Hyperprolinemia, Hyperalaninemia, Hepatic steatosis	OMIM:615918
Mandibuloacral Dysplasia	Increased circulating free fatty acid level, Hypercholesterolemia, Hypertriglyceridemia	ORPHA:2457
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Elevated circulating hepatic transaminase concentration, Decreased liver function, Hepatic steato...	ORPHA:42
Lipodystrophy, Familial Partial, Type 4	Hepatic steatosis, Hypertriglyceridemia	OMIM:613877
Lipodystrophy, Familial Partial, Type 6	Hyperlipidemia, Hepatic steatosis, Abnormal circulating lipid concentration, Elevated circulating...	OMIM:615980
Peroxisomal Acyl-Coa Oxidase Deficiency	Hepatomegaly, Very long chain fatty acid accumulation, Elevated circulating hepatic transaminase ...	OMIM:264470
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Periportal fibrosis, Decreased circulating carnitine concentration, Hepatocellular necrosis, Hepa...	OMIM:201475
Hemochromatosis, Type 4	Increased circulating ferritin concentration, Hepatic steatosis, Cirrhosis, Hepatomegaly, Elevate...	OMIM:606069
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type	Decreased activity of mitochondrial complex IV, Hepatic steatosis, Decreased liver function	ORPHA:70472
Parenteral Nutrition-Associated Cholestasis	Hepatic fibrosis, Cholelithiasis, Hepatic failure, Elevated circulating hepatic transaminase conc...	ORPHA:567983
Congenital Bile Acid Synthesis Defect Type 2	Giant cell hepatitis, Hepatic failure, Elevated circulating hepatic transaminase concentration, C...	ORPHA:79303
Gracile Syndrome	Increased circulating ferritin concentration, Cholestasis, Hepatic steatosis, Cirrhosis, Elevated...	ORPHA:53693
Lipodystrophy, Partial, Acquired, Susceptibility To	Hepatic steatosis, Abnormal circulating lipid concentration	OMIM:608709
Acyl-Coa Dehydrogenase 9 Deficiency	Elevated circulating acylcarnitine concentration, Decreased circulating carnitine concentration, ...	ORPHA:99901
Lipodystrophy, Familial Partial, Type 5	Hepatomegaly, Increased C-peptide level, Hepatic steatosis, Hypertriglyceridemia	OMIM:615238
Rajab Interstitial Lung Disease With Brain Calcifications 2	Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Hepatosplenomegaly, Hep...	OMIM:619013
Trappc11-Related Limb-Girdle Muscular Dystrophy R18	Hepatomegaly, Abnormal circulating creatine kinase concentration, Elevated circulating hepatic tr...	ORPHA:369840
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Cholestasis, Hepatosplenomegaly, Hyperbilirubinemia, Increased LDL cholesterol concentration, Hep...	ORPHA:247598
Familial Partial Lipodystrophy, Köbberling Type	Hepatomegaly, Pancreatitis, Hepatic steatosis	ORPHA:79084
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency	Hepatic fibrosis, Portal fibrosis, Elevated circulating hepatic transaminase concentration, Hyper...	ORPHA:369
Triokinase And Fmn Cyclase Deficiency Syndrome	Hypoalbuminemia, Hepatic steatosis, Pancreatitis, Elevated circulating alanine aminotransferase c...	OMIM:618805
Citrullinemia Type Ii	Hypoalbuminemia, Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Decre...	ORPHA:247585
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome	Decreased mitochondrial number, Elevated circulating creatine kinase concentration	ORPHA:352447
Combined Oxidative Phosphorylation Deficiency 27	Decreased activity of mitochondrial complex IV, Hyperammonemia, Microvesicular hepatic steatosis,...	OMIM:616672
Severe Neurodegenerative Syndrome With Lipodystrophy	Hepatomegaly, Cirrhosis, Hepatic steatosis, Hypertriglyceridemia	ORPHA:363400
Barth Syndrome	Elevated monolysocardiolipin/cardiolipin ratio, Abnormal mitochondrial morphology	OMIM:302060
Congenital Disorder Of Glycosylation, Type Im	Increased circulating free fatty acid level	OMIM:610768
Carnitine Palmitoyltransferase I Deficiency	Elevated circulating hepatic transaminase concentration, Elevated circulating aspartate aminotran...	OMIM:255120
Infantile Liver Failure Syndrome 3	Hepatic bridging fibrosis, Elevated circulating hepatic transaminase concentration, Cholestasis, ...	OMIM:618641
Hypermethioninemia Due To Adenosine Kinase Deficiency	Hypermethioninemia, Portal fibrosis, Elevated circulating S-adenosyl-L-homocysteine concentration...	OMIM:614300
Lipodystrophy, Familial Partial, Type 3	Hepatic steatosis, Hyperuricemia, Hypertriglyceridemia, Cirrhosis, Decreased HDL cholesterol conc...	OMIM:604367
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)	Hepatic failure, Micronodular cirrhosis, Hepatocellular necrosis, Cholestasis, Acute hepatic fail...	OMIM:256810
Combined Oxidative Phosphorylation Deficiency 12	Cholestasis, Elevated circulating aspartate aminotransferase concentration, Decreased activity of...	OMIM:614924
Obesity And Hypopigmentation	Hepatic steatosis	OMIM:620195
Mitochondrial Complex Iv Deficiency, Nuclear Type 6	Hepatic steatosis	OMIM:615119
Carnitine Palmitoyltransferase Ii Deficiency, Infantile	Elevated circulating hepatic transaminase concentration, Hyperammonemia, Elevated circulating cre...	OMIM:600649
Acquired Partial Lipodystrophy	Hepatic steatosis	ORPHA:79087
Mitochondrial Neurogastrointestinal Encephalomyopathy	Elevated circulating hepatic transaminase concentration, Abnormality of the mitochondrion, Cirrho...	ORPHA:298
Akt2-Related Familial Partial Lipodystrophy	Hepatomegaly, Hepatic steatosis, Hypertriglyceridemia	ORPHA:79085
Chylomicron Retention Disease	Elevated circulating hepatic transaminase concentration, Hypocholesterolemia, Hepatic steatosis, ...	ORPHA:71
Multiple Acyl-Coa Dehydrogenase Deficiency	Elevated circulating glutaric acid concentration, Hepatic periportal necrosis, Hepatic steatosis,...	OMIM:231680
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome	Elevated circulating hepatic transaminase concentration, Hepatic steatosis, Elevated circulating ...	OMIM:615381
Mitochondrial Complex I Deficiency, Nuclear Type 20	Hepatic failure, Elevated circulating hepatic transaminase concentration, Decreased activity of m...	OMIM:611126
Combined Oxidative Phosphorylation Deficiency 9	Elevated circulating aspartate aminotransferase concentration, Hepatic steatosis, Hyperalaninemia...	OMIM:614582
Infantile Liver Failure Syndrome 1	Acute hepatic failure, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hep...	OMIM:615438
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Elevated circulating acylcarnitine concentration, Hepatic failure, Decreased plasma free carnitin...	ORPHA:228308
Cidec-Related Familial Partial Lipodystrophy	Hepatomegaly, Pancreatitis, Hepatic steatosis, Hypertriglyceridemia	ORPHA:435651
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency	Increased mitochondrial number, Decreased muscle glycogen content	ORPHA:263297
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Elevated circulating hepatic transaminase concentration, Increased total bilirubin, Elevated circ...	OMIM:608836
Porphyria Cutanea Tarda	Periportal fibrosis, Elevated circulating hepatic transaminase concentration, Portal inflammation...	ORPHA:101330
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Hepatic fibrosis, Portal fibrosis, Elevated circulating hepatic transaminase concentration, Chole...	ORPHA:264580
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic	Hepatic failure, Increased hepatic echogenicity, Hepatic steatosis, Low plasma citrulline, Elevat...	OMIM:261680
Congenital Generalized Lipodystrophy	Hepatic steatosis, Cirrhosis, Hypercholesterolemia, Hypertriglyceridemia, Hepatomegaly, Increased...	ORPHA:528
Dysbetalipoproteinemia	Decreased HDL cholesterol concentration, Xanthelasma, Increased LDL cholesterol concentration, He...	ORPHA:412
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy	Hypoalbuminemia, Intrahepatic cholestasis, Hepatic fibrosis, Decreased liver function, Elevated c...	OMIM:617093
Wilson Disease	Elevated circulating hepatic transaminase concentration, Hepatitis, Acute hepatic failure, Acute ...	ORPHA:905
Pparg-Related Familial Partial Lipodystrophy	Splenomegaly, Hepatic steatosis, Hyperuricemia, Cirrhosis, Pancreatitis, Hypertriglyceridemia, He...	ORPHA:79083
Glycogen Storage Disease Ixb	Splenomegaly, Hyperuricemia, Increased hepatic glycogen content, Hepatomegaly, Increased muscle g...	OMIM:261750
Bardet-Biedl Syndrome 19	Hepatic steatosis	OMIM:615996
Glycogen Storage Disease Ixc	Elevated circulating hepatic transaminase concentration, Splenomegaly, Increased hepatic glycogen...	OMIM:613027
Lipe-Related Familial Partial Lipodystrophy	Hepatomegaly, Hypertriglyceridemia, Hepatic steatosis, Elevated circulating creatine kinase conce...	ORPHA:435660
Bile Acid Malabsorption, Primary, 2	Periportal fibrosis, Decreased circulating chenodeoxycholic acid concentration, Elevated circulat...	OMIM:619481
Congenital Macroglossia	Abnormal hepatic glycogen storage	ORPHA:2430
Familial Partial Lipodystrophy, Dunnigan Type	Splenomegaly, Hepatic steatosis, Pancreatitis, Hypertriglyceridemia, Hepatomegaly	ORPHA:2348
Immunodeficiency 47	Hepatic bridging fibrosis, Hepatic fibrosis, Accessory spleen, Elevated circulating hepatic trans...	OMIM:300972
Familial Chylomicronemia Syndrome	Increased circulating chylomicron concentration, Hepatosplenomegaly, Hyperlipidemia, Hepatic stea...	ORPHA:444490
Autoimmune Hepatitis	Elevated circulating hepatic transaminase concentration, Viral hepatitis, Increased total bilirub...	ORPHA:2137
Neutral Lipid Storage Disease With Ichthyosis	Elevated circulating hepatic transaminase concentration, Micronodular cirrhosis, Abnormal circula...	ORPHA:98907
Ddost-Cdg	Elevated circulating hepatic transaminase concentration, Hepatic steatosis	ORPHA:300536
Dpm1-Cdg	Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Hepatosplenomegaly, He...	ORPHA:79322
Neutral Lipid Storage Disease With Myopathy	Elevated circulating hepatic transaminase concentration, Chronic pancreatitis, Hepatic steatosis,...	OMIM:610717
Macrocephaly-Intellectual Disability-Autism Syndrome	Hepatic steatosis	ORPHA:210548
Congenital Disorder Of Glycosylation, Type It	Intrahepatic cholestasis, Elevated circulating hepatic transaminase concentration, Hepatitis, Ele...	OMIM:614921
Interstitial Lung And Liver Disease	Hepatic fibrosis, Hepatic failure, Cholestasis, Elevated circulating aspartate aminotransferase c...	OMIM:615486
Carnitine-Acylcarnitine Translocase Deficiency	Elevated circulating hepatic transaminase concentration, Hyperammonemia, Hepatic steatosis, Eleva...	OMIM:212138
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia	Hepatic steatosis, Elevated circulating creatine kinase concentration	ORPHA:52430
Acquired Generalized Lipodystrophy	Abnormal circulating lipid concentration, Hepatic steatosis, Cirrhosis, Hypertriglyceridemia, Hep...	ORPHA:79086
Chanarin-Dorfman Syndrome	Hepatomegaly, Hepatic steatosis	OMIM:275630
Growth Delay-Intellectual Disability-Hepatopathy Syndrome	Hepatic fibrosis, Hepatic failure, Elevated circulating hepatic transaminase concentration, Chole...	ORPHA:541423
19P13.12 Microdeletion Syndrome	Hyperlipidemia, Hepatic steatosis	ORPHA:254346
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Accessory spleen, Cholestatic liver disease, Polysplenia, Exocrine pancreatic insufficiency, Hepa...	OMIM:619418
3-Methylglutaconic Aciduria, Type V	Elevated circulating aspartate aminotransferase concentration, Elevated circulating alanine amino...	OMIM:610198
Fructose-1,6-Bisphosphatase Deficiency	Neonatal hyperbilirubinemia, Elevated circulating hepatic transaminase concentration, Hepatic ste...	ORPHA:348
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)	Hypoalbuminemia, Hypermethioninemia, Hepatic failure, Elevated circulating hepatic transaminase c...	OMIM:617156
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency	Hypermethioninemia, Hyperhomocystinemia, Pancreatitis, Hepatic steatosis	OMIM:236200
Lipodystrophy, Congenital Generalized, Type 4	Elevated circulating hepatic transaminase concentration, Splenomegaly, Hepatic steatosis, Elevate...	OMIM:613327
Friedreich Ataxia	Decreased pyruvate carboxylase activity, Mitochondrial malic enzyme reduced	OMIM:229300
Methylmalonic Aciduria, Cblb Type	Decreased methylmalonyl-CoA mutase activity, Elevated circulating propionylcarnitine concentratio...	OMIM:251110
Abetalipoproteinemia	Hypoalbuminemia, Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Hypot...	ORPHA:14
Neutral Lipid Storage Myopathy	Elevated circulating hepatic transaminase concentration, Abnormal circulating creatine kinase con...	ORPHA:98908
Seckel Syndrome 10	Elevated circulating aspartate aminotransferase concentration, Hepatic steatosis, Elevated circul...	OMIM:617253
Fanconi-Bickel Syndrome	Hepatic failure, Elevated circulating aspartate aminotransferase concentration, Abnormal hepatic ...	ORPHA:2088
Congenital Disorder Of Glycosylation, Type Ia	Hypoalbuminemia, Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Hypoc...	OMIM:212065
Aicardi-Goutieres Syndrome 9	Hypoalbuminemia, Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Hepat...	OMIM:619487
Bloom Syndrome	Chromosome breakage, Abnormality of chromosome stability, Azoospermia, Hepatic steatosis, Elevate...	OMIM:210900
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease	Increased circulating cortisol level, Hyperaldosteronism, Hyperlipidemia, Hepatic steatosis, Para...	ORPHA:189427
Osteootohepatoenteric Syndrome	Hepatic fibrosis, Portal fibrosis, Cholestasis, Microvesicular hepatic steatosis, Increased serum...	OMIM:619377
Combined Oxidative Phosphorylation Deficiency 11	Hepatomegaly, Hepatic steatosis, Decreased liver function	OMIM:614922
Mitochondrial Complex Iii Deficiency, Nuclear Type 1	Periportal fibrosis, Elevated circulating hepatic transaminase concentration, Decreased liver fun...	OMIM:124000
Lysosomal Acid Lipase Deficiency	Hepatic fibrosis, Hepatic failure, Elevated circulating hepatic transaminase concentration, Decre...	ORPHA:275761
Lipodystrophy, Familial Partial, Type 2	Decreased HDL cholesterol concentration, Hepatic steatosis, Hypercholesterolemia, Hypertriglyceri...	OMIM:151660
D-Bifunctional Protein Deficiency	Elevated circulating hepatic transaminase concentration, Increased circulating very long-chain fa...	OMIM:261515
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy	Decreased HDL cholesterol concentration, Splenomegaly, Hepatic steatosis, Pancreatitis, Hypertrig...	ORPHA:280365
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency	Acute hyperammonemia, Acute hepatic steatosis	OMIM:210200
Immunodeficiency 40	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Macrovesicular hepat...	OMIM:616433
Adrenomyodystrophy	Hepatic steatosis	ORPHA:977
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Xanthelasma, Hyperlipidemia, Hepatic steatosis, Hyperuricemia, Increased hepatic glycogen content...	ORPHA:79259
Wilson Disease	Hypouricemia, Hypoalbuminemia, Hepatic failure, Portal fibrosis, Acute hepatic failure, Elevated ...	OMIM:277900
Combined Oxidative Phosphorylation Deficiency 37	Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Decreased liver functio...	OMIM:618329
Methylmalonic Aciduria And Homocystinuria, Cbld Type	Hyperhomocystinemia, Decreased methylmalonyl-CoA mutase activity, Hypomethioninemia, Methylmaloni...	OMIM:277410
Oxoglutaric Aciduria	Abnormality of Krebs cycle metabolism	ORPHA:31
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1	Hepatic fibrosis, Exocrine pancreatic insufficiency, Hepatic steatosis, Pancreatic fibrosis, Hepa...	OMIM:616263
Alstrom Syndrome	Elevated circulating hepatic transaminase concentration, Decreased HDL cholesterol concentration,...	OMIM:203800
3-Methylglutaconic Aciduria Type 7	Elevated circulating hepatic transaminase concentration, Hepatic steatosis	ORPHA:445038
Pearson Syndrome	Hepatic failure, Elevated circulating hepatic transaminase concentration, Hypomagnesemia, Exocrin...	ORPHA:699
Hereditary Leiomyomatosis And Renal Cell Cancer	Decreased fumarate hydratase activity	OMIM:150800
Progeria-Short Stature-Pigmented Nevi Syndrome	Elevated circulating hepatic transaminase concentration, Hepatic steatosis, Neoplasm of the pancreas	ORPHA:2959
Immunodeficiency 87 And Autoimmunity	Hepatic failure, Cholestasis, Elevated circulating aspartate aminotransferase concentration, Hepa...	OMIM:619573
Methylmalonic Aciduria, Cbla Type	Decreased methylmalonyl-CoA mutase activity, Hyperglycinemia, Hyperammonemia, Hepatomegaly, Methy...	OMIM:251100
Monosomy 13Q34	Hypercalcemia, Hepatic steatosis	ORPHA:96168
3-Hydroxy-3-Methylglutaric Aciduria	Elevated circulating hepatic transaminase concentration, Hyperammonemia, Hyperuricemia, Lipid acc...	ORPHA:20
Mucopolysaccharidosis-Plus Syndrome	Hepatomegaly, Macrovesicular hepatic steatosis, Splenomegaly, Hypoalbuminemia	OMIM:617303
Fructose Intolerance, Hereditary	Elevated circulating hepatic transaminase concentration, Hyperbilirubinemia, Hepatic steatosis, H...	OMIM:229600
Dilated Cardiomyopathy With Ataxia	Elevated circulating hepatic transaminase concentration, Elevated circulating glutaric acid conce...	ORPHA:66634
Mitochondrial Trifunctional Protein Deficiency	Cholestasis, Chronic hepatic failure, Hypocalcemia, Diffuse hepatic steatosis	ORPHA:746
Lipodystrophy, Congenital Generalized, Type 1	Elevated circulating hepatic transaminase concentration, Hepatic steatosis, Splenomegaly, Cirrhos...	OMIM:608594
Garg-Mishra Progeroid Syndrome	Microvesicular hepatic steatosis	OMIM:620601
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease	Elevated circulating hepatic transaminase concentration, Abnormality of exocrine pancreas physiol...	ORPHA:93111
Lipodystrophy, Congenital Generalized, Type 2	Elevated circulating hepatic transaminase concentration, Hepatic steatosis, Splenomegaly, Cirrhos...	OMIM:269700
Cimdag Syndrome	Hepatomegaly, Cholelithiasis, Microvesicular hepatic steatosis	OMIM:619273
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hepatic steatosis, Elevate...	OMIM:615356
3-Methylglutaconic Aciduria, Type Viib	Hepatic steatosis	OMIM:616271
Liver Disease, Severe Congenital	Portal inflammation, Hyperbilirubinemia, Hepatic steatosis, Abnormal hepatic echogenicity, Hepato...	OMIM:619991
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy	Hepatomegaly, Decreased liver function, Diffuse hepatic steatosis	ORPHA:436271
Rajab Interstitial Lung Disease With Brain Calcifications 1	Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Decreased liver functio...	OMIM:613658
Aromatase Deficiency	Hyperlipidemia, Hepatic steatosis	ORPHA:91
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome	Nodular regenerative hyperplasia of liver, Elevated circulating hepatic transaminase concentratio...	ORPHA:404454
Mitochondrial Complex Iv Deficiency, Nuclear Type 1	Hepatomegaly, Increased intramyocellular lipid droplets, Decreased liver function, Increased hepa...	OMIM:220110
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)	Hepatic failure, Elevated circulating hepatic transaminase concentration, Micronodular cirrhosis,...	OMIM:203700
Aicardi-Goutieres Syndrome 7	Hepatitis, Increased circulating ferritin concentration, Splenomegaly, Hepatic steatosis, Hepatom...	OMIM:615846
Mitochondrial Dna-Associated Leigh Syndrome	Hepatic failure, Abnormality of Krebs cycle metabolism, Low plasma citrulline, Hyperalaninemia, H...	ORPHA:255210
Arima Syndrome	Hepatomegaly, Hepatic fibrosis, Cirrhosis, Hepatic steatosis	OMIM:243910
Smith-Lemli-Opitz Syndrome	Cholestatic liver disease, Hypoalbuminemia, Hypocholesterolemia, Hepatic steatosis, Splenomegaly,...	OMIM:270400
Congenital Disorder Of Glycosylation, Type Iiw	Elevated circulating hepatic transaminase concentration, Increased hepatic echogenicity, Elevated...	OMIM:619525
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Hepatocellular necrosis, Hepatosplenomegaly, Microvesicular hepatic steatosis, Hepatomegaly, Unco...	OMIM:618278
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Cystathioninemia, Decreased methylmalonyl-CoA mutase activity, Hypomethioninemia, Hyperhomocystin...	OMIM:277400
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Hyperbilirubinemia, Jaundice, Elevated circulating hepatic transaminase concentration, Hepatic st...	OMIM:619475
Friedreich Ataxia 2	Decreased pyruvate carboxylase activity, Mitochondrial malic enzyme reduced	OMIM:601992
Mandibuloacral Dysplasia Progeroid Syndrome	Elevated circulating hepatic transaminase concentration, Hypertriglyceridemia, Hepatomegaly, Elev...	OMIM:619127
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2	Hepatomegaly, Cirrhosis, Elevated hepatic iron concentration, Microvesicular hepatic steatosis	OMIM:300868
Mitochondrial Complex Iv Deficiency, Nuclear Type 5	Decreased activity of mitochondrial complex IV, Hyperammonemia, Microvesicular hepatic steatosis,...	OMIM:220111
Intellectual Developmental Disorder, Autosomal Dominant 68	Hepatic steatosis	OMIM:619934
Ogden Syndrome	Jaundice, Macrovesicular hepatic steatosis, Hyperbilirubinemia, Microvesicular hepatic steatosis	OMIM:300855
Bardet-Biedl Syndrome	Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Decreased HDL choleste...	ORPHA:110
Turner Syndrome Due To Structural X Chromosome Anomalies	Cholestatic liver disease, Hepatic fibrosis, Elevated circulating hepatic transaminase concentrat...	ORPHA:99413
Turner Syndrome	Cholestatic liver disease, Hepatic fibrosis, Elevated circulating hepatic transaminase concentrat...	ORPHA:881
Mosaic Monosomy X	Cholestatic liver disease, Hepatic fibrosis, Elevated circulating hepatic transaminase concentrat...	ORPHA:99228
Monosomy X	Cholestatic liver disease, Hepatic fibrosis, Elevated circulating hepatic transaminase concentrat...	ORPHA:99226
Atypical Werner Syndrome	Hepatic steatosis, Hypertriglyceridemia	ORPHA:79474
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Azotemia, Hepatic steatosis	OMIM:619321
1P36 Deletion Syndrome	Abnormality of the spleen, Abnormality of the liver, Annular pancreas, Hepatic steatosis	ORPHA:1606
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Hypomagnesemia, Cholestasis, Hepatosplenomegaly, Portal hypertension, Hepatic steatosis, Hypocalc...	OMIM:619503
Homozygous Familial Hypercholesterolemia	Hyperlipidemia, Increased LDL cholesterol concentration, Hypercholesterolemia, Hepatic steatosis	ORPHA:391665
Wiedemann-Rautenstrauch Syndrome	Hepatic steatosis, Hypertriglyceridemia	ORPHA:3455
Digeorge Syndrome	Splenomegaly, Cholelithiasis, Hepatic steatosis, Hypocalcemia	OMIM:188400
Alström Syndrome	Hepatic fibrosis, Hepatic failure, Elevated circulating hepatic transaminase concentration, Hepat...	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 Them5

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 Them5.

No publications found that use IMPC mice or data for Them5.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele	Allele Type	Produced
Them5^{tm44995(L1L2_gt0)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors
Them5^{tm1a(KOMP)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Them5^{tm1e(KOMP)Wtsi}	Targeted, non-conditional allele	ES Cells

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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