Table 2.
Mouse Models related to Ovarian Dysfunction and FMR1.
| Mutant phenotype | 130R (Hoffman et al., 2012) | TG206/YAC90R (Lu et al., 2012) | ||
|---|---|---|---|---|
| Alteration(s) in follicle number | Decreased numbers of primordial follicles in 7–9 month-old mice | Decreased numbers of growing follicles in 25 day-old and 9 week-old mice | ||
| Alteration(s) in fecundity | Not evaluated | Increased age at first litter, decreased number of pups per litter | ||
| Alteration(s) in hormone production | Not evaluated | Hormone | 8–10 weeks | 15–22 weeks |
| Estradiol | ↑* | ** | ||
| FSH | ↑* | ↑* | ||
| LH | ↓ n.s. | ↓ n.s. | ||
| *P < 0.05, **not evaluated | ||||
| Follicle death | Increased histomorphometric evidence of follicle atresia in PM ovaries; increased ubiquitylated proteins in PM oocytes. | Increased numbers of TUNEL-positive apoptotic cells in PM ovaries | ||
| Alterations in follicle growth | Granulosa cell number is decreased in growing follicles. Cumulus granulosa cell number is also decreased in mature follicles. | mTOR pathway is downregulated in whole ovaries (McLaughlin et al., 2011; Yu et al., 2011) | ||
| Alterations in gene expression | Reduced expression of FMRP in PM granulosa cells. Redistribution of FMRP to oocyte nucleus in PM (FMRP is cytoplasmic in wild-type oocytes). Reduced CX36 expression. | Decreased expression of LH-induced ovulation-related genes in PM ovaries versus wild-type controls. | ||
| Other abnormalities | Presence of ovarian cysts; zona pellucida abnormalities. | Reduced whole body weight in PM animals versus wild-type controls. | ||