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Gene: Mterf2 MGI:1921488

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Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
mitochondrial transcription termination factor 2
Synonyms:
Mterfd3,  1700007D05Rik

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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 Mterf2 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 Mterf2 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance
Exercise intolerance, Proximal muscle weakness in upper limbs, Increased mitochondrial number, Ne... ORPHA:457050
Dna2-Related Mitochondrial Dna Deletion Syndrome
Progressive external ophthalmoplegia, Decreased mitochondrial number, Limb-girdle muscle weakness... ORPHA:352470
Combined Oxidative Phosphorylation Deficiency 38
Decreased activity of mitochondrial ATP synthase complex, Decreased activity of mitochondrial com... OMIM:618378
Barth Syndrome
Abnormal mitochondrial morphology ORPHA:111
Spastic Paraplegia Type 7
Abnormal mitochondrial morphology, Upper limb muscle weakness, Attention deficit hyperactivity di... ORPHA:99013
Friedreich Ataxia
Mitochondrial malic enzyme reduced, Decreased pyruvate carboxylase activity OMIM:229300
Oxoglutaric Aciduria
Abnormality of Krebs cycle metabolism ORPHA:31
Hereditary Leiomyomatosis And Renal Cell Cancer
Decreased fumarate hydratase activity OMIM:150800
Fumarase Deficiency
Decreased fumarate hydratase activity, Intrahepatic cholestasis, Hepatic failure, Failure to thri... OMIM:606812
Frontotemporal Dementia With Motor Neuron Disease
Bulbar palsy, Distal muscle weakness, Proximal muscle weakness, Frontotemporal dementia, Abnormal... ORPHA:275872
Mitochondrial Complex I Deficiency, Nuclear Type 29
Fatigue, Exercise intolerance, Proximal muscle weakness, Exercise-induced myalgia, Myalgia, Decre... OMIM:618250
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Decreased methionine synthase activity, Confusion, Dementia, Decreased methylmalonyl-CoA mutase a... OMIM:277400
Combined Oxidative Phosphorylation Deficiency 28
Fatigue, Abdominal pain, Decreased activity of mitochondrial complex IV, Decreased activity of mi... OMIM:616794
Methylmalonic Aciduria, Cblb Type
Decreased methylmalonyl-CoA mutase activity, Failure to thrive OMIM:251110
Methylmalonic Aciduria And Homocystinuria, Cbld Type
Decreased methionine synthase activity, Decreased methylmalonyl-CoA mutase activity OMIM:277410
Mitochondrial Dna-Associated Leigh Syndrome
Abnormality of Krebs cycle metabolism, Ophthalmoparesis, Hepatic failure, Failure to thrive, Musc... ORPHA:255210
Hsd10 Mitochondrial Disease
Abnormal mitochondrial morphology, Progressive neurologic deterioration OMIM:300438
Methylmalonic Aciduria, Cbla Type
Decreased methylmalonyl-CoA mutase activity, Failure to thrive OMIM:251100
Charcot-Marie-Tooth Disease, Axonal, Mitochondrial Form, 1
Mitochondrial hypertrophy, Decreased activity of mitochondrial complex IV, Decreased activity of ... OMIM:500013
Mitochondrial Complex Iv Deficiency, Nuclear Type 19
Increased mitochondrial number, Decreased activity of mitochondrial complex IV OMIM:619063
Combined Oxidative Phosphorylation Deficiency 19
Poor head control, Failure to thrive, Elevated circulating aspartate aminotransferase concentrati... OMIM:615595
Muscular Dystrophy, Congenital, Megaconial Type
Mitochondrial hypertrophy, Gowers sign, Facial palsy, Muscle weakness OMIM:602541
Friedreich Ataxia 2
Mitochondrial malic enzyme reduced, Decreased pyruvate carboxylase activity OMIM:601992
Barth Syndrome
Fatigue, Exercise intolerance, Gowers sign, Abnormal mitochondrial morphology, Failure to thrive OMIM:302060
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome
Mitochondrial hypertrophy, Failure to thrive, Progressive muscle weakness OMIM:619518
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome
Mitochondrial swelling, Lower limb muscle weakness, Progressive distal muscle weakness, Proximal ... ORPHA:397744
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency
Increased mitochondrial number, Abdominal wall muscle weakness, Neck flexor weakness, Upper limb ... ORPHA:263297
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Respiratory insufficiency due to muscle weakness, Progressive external ophthalmoplegia, Decreased... ORPHA:352447
Combined Oxidative Phosphorylation Deficiency 18
Decreased activity of mitochondrial complex I, Increased mitochondrial number OMIM:615578
Mitochondrial Phosphate Carrier Deficiency
Abnormal mitochondrial shape OMIM:610773
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
External ophthalmoplegia, Abnormal mitochondrial shape, Muscle weakness ORPHA:485421
Dystonia-Aphonia Syndrome
Abnormal mitochondrial shape, Cognitive impairment ORPHA:412217
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Elevated hepatic transaminase, Abnormal circulating enzyme concentration or activity, Short atten... ORPHA:17
Optic Atrophy-Ataxia-Peripheral Neuropathy-Global Developmental Delay Syndrome
Failure to thrive, Abnormal mitochondrial shape ORPHA:543470

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 Mterf2

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 Mterf2.

No publications found that use IMPC mice or data for Mterf2.

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MGI Allele Allele Type Produced
Mterf2tm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells
Mterf2tm3a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Mterf2tm2a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Mterf2tm3e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells

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