Not currently registered for phenotyping at IMPC
Phenotyping is currently not planned for a knockout strain of this gene.
Gene Summary
IMPC Data Collections
- No Body Weight Data
- No Embryo Imaging Data
- No Viability Data
Phenotyping is currently not planned for a knockout strain of this gene.
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 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 |
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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