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Genes Phenotypes Help, News, Blog

Gene: Nrf1 MGI:1332235

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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:
nuclear respiratory factor 1
Synonyms:
D6Ertd415e

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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 Nrf1 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 Nrf1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Hyperlysinemia Due To Defect In Lysine Transport Into Mitochondria
Mitochondrial lysine transport defect OMIM:238710
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
Tricarboxylic Acid Cycle, Defect Of
Decreased activity of the pyruvate dehydrogenase complex OMIM:275370
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
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Abnormal mitochondrial morphology OMIM:618528
Hsd10 Mitochondrial Disease
Abnormal mitochondrial morphology OMIM:300438
Dna2-Related Mitochondrial Dna Deletion Syndrome
Decreased mitochondrial number ORPHA:352470
Spastic Paraplegia Type 7
Abnormal mitochondrial morphology ORPHA:99013
Charcot-Marie-Tooth Disease, Axonal, Mitochondrial Form, 1
Decreased activity of mitochondrial complex III, Decreased activity of mitochondrial complex IV, ... OMIM:500013
Frontotemporal Dementia With Motor Neuron Disease
Abnormal mitochondrial morphology ORPHA:275872
Mitochondrial Phosphate Carrier Deficiency
Abnormal mitochondrial shape OMIM:610773
Combined Oxidative Phosphorylation Deficiency 18
Decreased activity of mitochondrial complex I, Increased mitochondrial number OMIM:615578
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Abnormality of the mitochondrion ORPHA:91130
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Abnormality of the mitochondrion ORPHA:330050
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Decreased mitochondrial number ORPHA:352447
Barth Syndrome
Abnormal mitochondrial morphology OMIM:302060
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome
Mitochondrial hypertrophy OMIM:619518
Mitochondrial Complex I Deficiency, Nuclear Type 29
Decreased activity of mitochondrial complex I, Mitochondrial swelling OMIM:618250
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome
Mitochondrial swelling ORPHA:397744
Dystonia-Aphonia Syndrome
Abnormal mitochondrial shape ORPHA:412217
Combined Oxidative Phosphorylation Deficiency 19
Mitochondrial swelling OMIM:615595
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
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Decreased activity of mitochondrial complex III, Decreased activity of mitochondrial complex IV, ... ORPHA:17
Optic Atrophy-Ataxia-Peripheral Neuropathy-Global Developmental Delay Syndrome
Abnormal mitochondrial shape ORPHA:543470
Mitochondrial Neurogastrointestinal Encephalomyopathy
Abnormality of the mitochondrion ORPHA:298
Sialuria
Abnormality of the mitochondrion ORPHA:3166
Peroxisome Biogenesis Disorder 2A (Zellweger)
Abnormality of the mitochondrion OMIM:214110
Autosomal Dominant Progressive External Ophthalmoplegia
Abnormality of the mitochondrion ORPHA:254892

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 Nrf1

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 Nrf1.

There are 3 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Differential Susceptibility of Retinal Neurons to the Loss of Mitochondrial Biogenesis Factor Nrf1. Cells (July 2022) Nrf1tm1c(KOMP)Wtsi PMC9321222
NRF1 association with AUTS2-Polycomb mediates specific gene activation in the brain. Molecular cell (October 2021) Nrf1tm1c(KOMP)Wtsi Nrf1tm1a(KOMP)Wtsi 34637754
Mouse Models of Inherited Retinal Degeneration with Photoreceptor Cell Loss. Cells (April 2020) Nrf1tm1c(KOMP)Wtsi 32290105

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MGI Allele Allele Type Produced
Nrf1tm37300(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Nrf1tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Nrf1tm301589(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Nrf1tm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells

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