Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
DNA topoisomerase 1, mitochondrial
Synonyms:
2900052H09Rik

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 Top1mt 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 Top1mt by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Elevated hepatic transaminase, Cholestasis, Hepatomegaly, Jaundice, Abnormal mitochondrial morpho... OMIM:618528
Barth Syndrome
Abnormal mitochondrial morphology ORPHA:111
Combined Oxidative Phosphorylation Deficiency 38
Decreased activity of mitochondrial complex IV, Abnormal mitochondrial morphology OMIM:618378
Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance
Increased mitochondrial number ORPHA:457050
Mitochondrial Complex Iv Deficiency, Nuclear Type 19
Decreased activity of mitochondrial complex IV, Increased mitochondrial number OMIM:619063
Hsd10 Mitochondrial Disease
Abnormal mitochondrial morphology OMIM:300438
Dna2-Related Mitochondrial Dna Deletion Syndrome
Decreased mitochondrial number ORPHA:352470
Barth Syndrome
Abnormal mitochondrial morphology OMIM:302060
Frontotemporal Dementia With Motor Neuron Disease
Abnormal mitochondrial morphology ORPHA:275872
Spastic Paraplegia Type 7
Abnormal mitochondrial morphology ORPHA:99013
Liver Failure, Infantile, Transient
Elevated hepatic transaminase, Microvesicular hepatic steatosis, Macrovesicular hepatic steatosis... OMIM:613070
Charcot-Marie-Tooth Disease, Axonal, Mitochondrial Form, 1
Decreased activity of mitochondrial complex IV, Decreased activity of mitochondrial complex I, De... OMIM:500013
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Abnormality of the mitochondrion ORPHA:91130
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Decreased mitochondrial number ORPHA:352447
Mitochondrial Phosphate Carrier Deficiency
Abnormal mitochondrial shape OMIM:610773
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Abnormality of the mitochondrion ORPHA:330050
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Elevated hepatic transaminase, Decreased activity of mitochondrial complex III, Hepatic steatosis... ORPHA:17
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome
Mitochondrial swelling ORPHA:397744
Mitochondrial Neurogastrointestinal Encephalomyopathy
Abnormality of the mitochondrion, Cirrhosis, Macrovesicular hepatic steatosis, Elevated hepatic t... ORPHA:298
Cowden syndrome 3
Abnormality of mitochondrial metabolism OMIM:615106
Bile Acid Synthesis Defect, Congenital, 3
Cirrhosis, Elevated hepatic transaminase, Intrahepatic cholestasis, Hepatomegaly, Jaundice, Eleva... OMIM:613812
Dystonia-Aphonia Syndrome
Abnormal mitochondrial shape ORPHA:412217
Sialuria
Elevated hepatic transaminase, Abnormality of the mitochondrion, Cholelithiasis, Hepatomegaly, He... ORPHA:3166
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Abnormal mitochondrial shape ORPHA:485421
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency
Increased mitochondrial number ORPHA:263297
Multiple Mitochondrial Dysfunctions Syndrome 3
Abnormality of mitochondrial metabolism OMIM:615330
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome
Abnormality of mitochondrial metabolism ORPHA:1192
Optic Atrophy-Ataxia-Peripheral Neuropathy-Global Developmental Delay Syndrome
Abnormal mitochondrial shape ORPHA:543470
Friedreich Ataxia
Mitochondrial malic enzyme reduced, Decreased pyruvate carboxylase activity OMIM:229300
Reticular Dysgenesis
Abnormality of mitochondrial metabolism ORPHA:33355
Oxoglutaric Aciduria
Abnormality of Krebs cycle metabolism ORPHA:31
Sclerosing Cholangitis, Neonatal
Cirrhosis, Elevated hepatic transaminase, Sclerosing cholangitis, Biliary cirrhosis, Cholestasis,... OMIM:617394
Peroxisome Biogenesis Disorder 2A (Zellweger)
Hepatomegaly, Abnormality of the mitochondrion, Jaundice, Intrahepatic biliary dysgenesis OMIM:214110
Hereditary Leiomyomatosis And Renal Cell Cancer
Decreased fumarate hydratase activity OMIM:150800
Gallbladder Disease 1
Elevated hepatic transaminase, Cholesterol gallstones, Cholelithiasis, Hepatic fibrosis, Jaundice... OMIM:600803
Hsd10 Disease, Infantile Type
Abnormality of mitochondrial metabolism, Abnormal enzyme/coenzyme activity ORPHA:391428
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Micronodular cirrhosis, Microvesicular hepatic steatosis, Elevated hepatic transaminase, Bile duc... OMIM:203700
Methylmalonic Aciduria And Homocystinuria, Cbld Type
Decreased methionine synthase activity, Decreased methylmalonyl-CoA mutase activity OMIM:277410
Neurodegeneration Due To 3-Hydroxyisobutyryl-Coa Hydrolase Deficiency
Abnormality of mitochondrial metabolism ORPHA:88639
Manganese Poisoning
Abnormality of mitochondrial metabolism ORPHA:306682
Methylmalonic Aciduria, Cblb Type
Hepatomegaly, Decreased methylmalonyl-CoA mutase activity OMIM:251110
Methylmalonic Aciduria, Cbla Type
Hepatomegaly, Decreased methylmalonyl-CoA mutase activity OMIM:251100
Autosomal Dominant Progressive External Ophthalmoplegia
Abnormality of the liver, Abnormality of the mitochondrion, Elevated hepatic transaminase ORPHA:254892
Friedreich Ataxia 2
Mitochondrial malic enzyme reduced, Decreased pyruvate carboxylase activity OMIM:601992
Mitochondrial Dna-Associated Leigh Syndrome
Hepatomegaly, Abnormality of Krebs cycle metabolism, Hepatic failure ORPHA:255210
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Decreased methionine synthase activity, Decreased methylmalonyl-CoA mutase activity OMIM:277400
Friedreich Ataxia And Congenital Glaucoma
Mitochondrial malic enzyme reduced, Decreased pyruvate carboxylase activity OMIM:229310
Charcot-Marie-Tooth Peroneal Muscular Atrophy And Friedreich Ataxia, Combined
Mitochondrial malic enzyme reduced, Decreased pyruvate carboxylase activity OMIM:302900
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2
Abnormality of mitochondrial metabolism OMIM:614052
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome
Abnormality of mitochondrial metabolism ORPHA:314404

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 Top1mt

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 Top1mt.

No publications found that use IMPC mice or data for Top1mt.

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MGI Allele Allele Type Produced
Top1mttm46048(L1L2_Bact_P) Targeting vectors

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