| First Author | Alebrahim S | Year | 2014 |
| Journal | Genesis | Volume | 52 |
| Issue | 5 | Pages | 408-16 |
| PubMed ID | 24585429 | Mgi Jnum | J:213345 |
| Mgi Id | MGI:5584216 | Doi | 10.1002/dvg.22765 |
| Citation | Alebrahim S, et al. (2014) Inducible transient expression of Smpd3 prevents early lethality in fro/fro mice. Genesis 52(5):408-16 |
| abstractText | Sphingomyelin phosphodiesterase 3 (SMPD3) is a pleiotropic lipid metabolizing enzyme involved in multiple physiological processes. A deletion mutation in the murine Smpd3 gene called fragilitas ossium (fro) leads to severe skeletal abnormalities in the developing fro/fro embryos. Although fro/fro mice can be useful to study many different aspects of SMPD3 functions, their perinatal lethality makes it difficult to generate a sufficient number of mice for controlled studies. In fact, on the C57BL/6 genetic background, none of the fro/fro mice survive beyond the perinatal stage. In this study, we used the "Tet-On" inducible gene expression system to express Smpd3 transiently in fro/fro;ROSA-rtTA;TRE-Smpd3 embryos on the C57BL/6 background. This induced Smpd3 expression corrected all the skeletal abnormalities in these embryos and prevented their early death. However, induction of Smpd3 expression in the adolescent fro/fro;ROSA-rtTA;TRE-Smpd3 mice was not sufficient to correct the defects in trabecular bone mineralization and the impaired growth of the long bones. This novel mouse model will be a useful tool to study SMPD3 biology in vivo. |
