Table 3.
Phenotypes of mice with mutations in PGC markers and pathway components (order based on expression and/or function)
| Gene (pseudonym) | Phenotype/findings | Ref. |
|---|---|---|
| Bmp2 | Embryonic lethal; reduced PGCs | 14,772 |
| Bmp4 | Embryonic lethal; no PGCs | 12,773 |
| Bmp8b | Viable; male infertility; reduced PGCs | 13,774 |
| Smad1 | Embryonic lethal; reduced PGCs | 16,17,775 |
| Smad5 | Embryonic lethal; reduced PGCs | 15,776,777 |
| Smad4 | Embryonic lethal; absent PGCs | 18,778,779 |
| Ifitm3 (Fragilis) | Not essential for PGC function | 22 |
| Prdm1 (Blimp1) | Embryonic lethal; PGC specification defect | 23 |
| Prdm14 | Infertility; PGC specification defect | 29 |
| Ehmt1 (Glp) | Unknown PGC function | |
| Ehmt2 (G9a) | Unknown PGC function | |
| Dppa3 (Stella) | Not essential for PGC function | 24,25 |
| Alpl (Alkaline phosphatase) | Not essential for PGC function | 8 |
| Pou5f1 (Oct4) | Pluripotency marker | 780,781 |
| Nanog | Pluripotency marker | 781,782,783 |
| Sox2 | Pluripotency marker | 781,784 |
| Nanos3 | Infertile; PGC migration defect | 44 |
| Dnd1 (Ter) | Infertile; PGC migration defect | 45 |
| Kitl | Variable phenotypes depending on mutation; PGC migration defect | 785 |
| Kit | Variable phenotypes depending on mutation; PGC migration defect | 785 |
| Tgfbr1 (Alk5) | Embryonic lethal; enhanced PGC migration | 42,786 |