| First Author | Ingraham CA | Year | 2009 |
| Journal | Mitochondrion | Volume | 9 |
| Issue | 3 | Pages | 204-10 |
| PubMed ID | 19460290 | Mgi Jnum | J:192154 |
| Mgi Id | MGI:5464094 | Doi | 10.1016/j.mito.2009.02.001 |
| Citation | Ingraham CA, et al. (2009) NDUFS4: creation of a mouse model mimicking a Complex I disorder. Mitochondrion 9(3):204-10 |
| abstractText | The Complex I NADH dehydrogenase-ubiquinone-FeS 4 (NDUFS4) subunit gene is involved in proper Complex I function such that the loss of NDUFS4 decreases Complex I activity resulting in mitochondrial disease. Therefore, a mouse model harboring a point mutation in the NDUFS4 gene was created. An embryonic lethal phenotype was observed in homozygous (NDUFS4(-/-)) mutant fetuses. Mitochondrial function was impaired in heterozygous animals based on oxygen consumption, and Complex I activity in NDUFS4 mouse mitochondria. Decreased Complex I activity with unaltered Complex II activity, along with an accumulation of lactate, were consistent with Complex I disorders in this mouse model. |
