Table 2 Genes associated with a POI phenotype in mice
From: Searching for the ‘X’ factor: investigating the genetics of primary ovarian insufficiency
Gene (location on human X chromosome) | Mouse model | Reproductive phenotype (compared to wild type) | Reference |
|---|---|---|---|
Sox3 (Xq27.1) | KO | Excess follicular atresia, more dead or malformed oocytes, subfertility | [123] |
Fancb (Xp22.2) | KO | Reduced PGCs, primordial follicles depleted by 6 weeks | [115] |
Huwe1 (Xp11.22) | Primary oocyte-specific KO | Infertile. Fewer GV oocytes, oocytes fail to mature and are morphologically abnormal | [155] |
Primordial oocyte-specific KO | Depletion of primordial follicles due to increased death | [155] | |
Zfx (Xp22.11) | KO | Reduced PGCs in embryo, dramatically reduced oocytes at all ages, with negligible counts at 18 weeks | [151] |
Het | Modest reduction in number of oocytes | [151] | |
Bmp15 (Xp11.22) | KO | Subfertility, reduced ovulation, development of cystic ovaries that reduce oocyte number | [55] |
Fmr1 (Xq27.3) | PM (90 CGG repeats) | Subfertile, reduction in mature follicles at 35 days and 9 weeks, increased follicle atresia at 35 days, 16 weeks, 22 weeks | [42] |
Hom PM (130 GCC repeats) | Significant increase in atretic antral follicles, fewer corpora lutea, smaller litter size | [169] | |
Het PM (130 CGG repeats) | Fewer corpora lutea | [169] | |
KO | Earlier reduction in fertility, earlier decline in primordial follicles, higher proportion of antral and pre-antral follicles | [170] | |
Abcd1 (Xq28) | KO | Reduced fertility, increased interstitial cells, and needle-like lipid inclusions in ovary at 6 months | [171] |
Ar (Xq12) | KO | Longer estrous cycle and subfertility. Reduced number of corpora lutea. Loss of follicles by 40 weeks due to GC apoptosis | [130] |
KO | Fewer follicles at 8 weeks and smaller litter size. Loss of follicles by 40 weeks | [131] | |
Emr (Xq28) | KO | Reduced ovarian reserve | [135] |