IMPC phenotypes (gene matching)
B6J;B6NTac-Gfm1em1Rmrt/Gfm1em2Rmrt/Cnbc
| Status | Available to order |
| EMMA ID | EM:14606 |
| Citation information | RRID:IMSR_EM:14606 Research Resource Identifiers (RRID) are persistent unique ID numbers assigned to help researchers cite key resources (e.g. antibodies, model organisms and software projects) in the biomedical literature to improve transparency and reproducibility in research. See https://www.rrids.org/ for more information. |
| International strain name | B6J;B6NTac-Gfm1em1Rmrt/Gfm1em2Rmrt/Cnbc |
| Alternative name | Gfm1R671C/- |
| Strain type | Endonuclease-mediated |
| Allele/Transgene symbol | Gfm1em2Rmrt, Gfm1em1Rmrt |
| Gene/Transgene symbol | Gfm1, Gfm1 |
Information from provider
| Provider | Ramón Martí |
| Provider affiliation | Vall d’Hebron Research Institute (VHIR) |
| Additional owner | Consorcio Centro de Investigación Biomédica en Red M.P. (CIBER) |
| Genetic information | Gfm1 encodes the mitochondrial elongation factor G1. We have generated a compound heterozygous mutant mouse model that harbours a knock-out (KO) mutation in one allele and a knock-in (KI) mutation in the other allele. The KO allele consists in the deletion of exons 2 and 3 causing a frameshift that results in a premature stop codon in exon 4. The KI mutation is a two-base pairs insertion/deletion in exon 16, causing a missense mutation that induces the replacement of arginine by cysteine at position 671 of the protein sequence. CRISPR technology details: CRISPR mutagenesis done by Taconic, Cas9 has not been integrated in the mouse genome. |
| Phenotypic information | Homozygous:Homozygous KO mutation is embryonic lethal (before 10.5 dpc). Homozygous KI mutation causes a reduction of the mitochondrial translation rate and mitochondrial oxidative phosphorylation deficiency in the liver (complex IV deficiency).Heterozygous:KI/KO compound heterozygous mice show reduced mitochondrial translation rate in liver and brain, combined oxidative phosphorylation deficiency in liver and brain (complex I and complex IV), decrease of body weight in pre-weaning female mice and reduced levels of triacylglycerides in adult mice. There are also signs of hepatic microsteatosis in young and adult mice. |
| Breeding history | The KI allele was generated in the C57BL/6NTac inbred strain, and Gfm1R671C/+ mice were crossed with wild-type C57BL/6NTac mice for one generation. Heterozygous (Gfm1R671C/+) G1 mice were bred for an additional generation. Then, inbred G2 mice stopped to be reproductive and we bred heterozygous (Gfm1R671C/+) C57BL/6NTac G2 male mice with wild-type homozygous C57BL/6J mice, resulting in heterozygous (Gfm1R671C/+) mice in a C57BL/6 mixed background. The KO allele was generated in the C57BL/6NTac inbred strain, and heterozygous (Gfm1-/+) mice were bred for one generation. G1 heterozygous (Gfm1-/+) mice were bred with C57BL/6 heterozygous (Gfm1R671C/+) mice to obtain the compound heterozygous mouse model (Gfm1R671C/-). The colony was maintained by breeding Gfm1-/+ with Gfm1R671C/+ for two additional generations. |
| References |
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| Homozygous fertile | yes |
| Homozygous viable | yes |
| Homozygous matings required | no |
| Immunocompromised | no |
Information from EMMA
| Archiving centre | CNB-CSIC, Centro Nacional de Biotecnologia, Madrid, Spain |
| Animals used for archiving | homozygous (EM:14606 backg., mixed C57BL/6) males, homozygous (EM:14606 backg., mixed C57BL/6) females |
| Stage of embryos | 2-cell |
Disease and phenotype information
Literature references
- Dysfunctional mitochondrial translation and combined oxidative phosphorylation deficiency in a mouse model of hepatoencephalopathy due to Gfm1 mutations.;Molina-Berenguer Miguel, Vila-Julià Ferran, Pérez-Ramos Sandra, Salcedo-Allende Maria Teresa, Cámara Yolanda, Torres-Torronteras Javier, Martí Ramon, ;2022;FASEB journal : official publication of the Federation of American Societies for Experimental Biology;36;e22091; 34919756