Overview of knockout or knock-in mouse models of TGF-β-associated protein
| Knockout mouse model | Phenotype | Reference |
|---|---|---|
| Smad5 | Embryonic fatal; faulty vascular development, ventral closure, cardiac development, and craniofacial development; aberrant heart looping and embryonic turning | [111, 112] |
| Smad3 | A reduced size compared to littermate controls | [15, 113] |
| Smad7 | Body sizes were smaller than wild-type mice | [114] |
| Activin βA | Newborn fatality; cranial defects (cleft palate and loss of whiskers, upper incisors, lower incisors, and lower molars) | [115, 116] |
| Activin βB | Large litters but delayed parturition; breastfeeding issues; birth abnormalities in eyelid closure | [117] |
| Activin βC | No noticeable abnormalities; viable | [118] |
| Activin βE | No noticeable abnormalities; viable | [118] |
| Activin βB knockin to the activin βA locus | Reversal of activin A-deficient neonatal mortality. Defects in the development of the hair, gonads, external genitalia, and somatic growth | [119] |
| Growth differentiation factor 9 (GDF-9) | Viable; female infertility; one-layer primary follicle stage halt of folliculogenesis | [120, 121] |
| Inhibin α | Female infertility; secondary male infertility; granulosa/Sertoli cell and adrenal tumors; cachexia-like condition | [122] |
| Activin receptor type II | Infertility in females is caused by a folliculogenesis abnormality; delayed fertility in males; undersized gonads; 25% of mice die at birth owing to mandible deformities | [116] |
| FKBP12 | Due to cardiomyopathy and neural tube abnormalities, the majority of mice perish between embryonic day 14.5 (E14.5) and delivery | [123] |
| Follistatin | Neonatal fatality; craniofacial abnormalities, development retardation, and skin abnormalities | [111] |