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] | 
MKKC and ELYC equally contributed to: Conceptualization, Investigation, Writing—original draft, Writing—review & editing, Visualization. ZZJ, ASWC: Investigation, Data curation, Writing—review & editing. CL, KTL, KFT: Conceptualization, Methodology. PMKT: Conceptualization, Writing—original draft, Writing—review & editing, Visualization.
The authors declare that they have no conflicts of interest.
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This study was supported by the Research Grants Council of Hong Kong [RGC 14106518, 14111019, 14111720] RGC Postdoctoral Fellowship Scheme [PDFS2122-4S06] Health and Medical Research Fund [10210726] The Chinese University of Hong Kong’s Faculty Innovation Award [4620528], Direct Grant for Research [4054510, 4054668], Postdoctoral Fellowship Scheme [NL/LT/PDFS2022/0360/22lt], CU Medicine Passion for Perfection Scheme [PFP202210-004] and Global Physician-Leadership Stream programme. The funders had no role in study design, data collection and analysis, decision to publish, or preparation of the manuscript.
© The Author(s) 2023.