B6J;B6NTac-Gfm1emko Gfm1emR671C/Cnbc
Status | Available to order |
EMMA ID | EM:14606 |
International strain name | B6J;B6NTac-Gfm1emko Gfm1emR671C/Cnbc |
Alternative name | Gfm1R671C/- |
Strain type | Endonuclease-mediated |
Allele/Transgene symbol | Gfm1/ KO |
Gene/Transgene symbol | 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 knockout (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 a cysteine in 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 | None available |
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 strain EM:14606 background: mixed C57BL/6, homozygous strain EM:14606 background: mixed C57BL/6 |
Stage of embryos | 2-cell |
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