TGFβ2 knockout mice have multiple developmental defects that are non-overlapping with other TGFβ knockout phenotypes
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The growth and differentiation factor transforming growth factor-beta2 (TGFbeta2) is thought to play important roles in multiple developmental processes. Targeted disruption of the TGFbeta2 gene was undertaken to determine its essential role in vivo. TGFbeta2-null mice exhibit perinatal mortality and a wide range of developmental defects for a single gene disruption. These include cardiac, lung, craniofacial, limb, spinal column, eye, inner ear and urogenital defects. The developmental processes most commonly involved in the affected tissues include epithelial-mesenchymal interactions, cell growth, extracellular matrix production and tissue remodeling. In addition, many affected tissues have neural crest-derived components and simulate neural crest deficiencies. There is no phenotypic overlap with TGFbeta1- and TGFbeta3-null mice indicating numerous non-compensated functions between the TGFbeta isoforms.
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Two differentially expressed targets of MXI1, TGFB2 and NFIB, are involved in intellectual disability and craniofacial defects.
“Notably, two differentially expressed targets of MXI1, TGFB2 and NFIB, are also involved in intellectual disability and craniofacial defects (30, 36, 37).”
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- Authors
- Sanford, L. P., Ormsby, I., Groot, A. C. G.-D., Sariola, H., Friedman, R., Boivin, G. P., Cardell, E. L., & Doetschman, T.
- Affiliations
- University of Cincinnati (US)
- Leiden University (NL)
- University of Helsinki (FI)
- Corresponding author
- Doetschman, Thomas
- Venue
- Development
- Publisher
- The Company of Biologists
- Published
- 1997-07-01
- Volume
- 124
- Issue
- 13
- Pages
- 2659-2670
- ISSN
- 0950-1991 (ISSN-L)
- 1477-9129
- PMC
- PMC3850286
- OpenAlex
- W2101314011
- Cited by
- 1,447
- References
- 76
- Citations by year
- 2026: 19 · 2025: 18 · 2024: 43 · 2023: 40 · 2022: 33 · 2021: 48 · 2020: 44 · 2019: 41 · 2018: 40 · 2017: 50 · 2016: 43 · 2015: 48 · 2014: 53 · 2013: 61 · 2012: 55
- FWCI
- 19.20
- Type
- journal article
- Language
- en
- Open access
- green
- europepmc.org
- Locations
- Development (publishedVersion)
- PubMed (publishedVersion)
- Europe PMC (PubMed Central) (acceptedVersion)
- PubMed Central (acceptedVersion)
- Funders
- National Heart, Lung, and Blood Institute (P01HL041496, HL41496)
- National Institute on Deafness and Other Communication Disorders (DC 00119)
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (HD 26471, R01HD026471)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Developmental Biology and Gene Regulation
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › TGF-β signaling in diseases
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Craniofacial Disorders and Treatments
- Keywords
- TGF-beta2, knockout mice, developmental defects, perinatal mortality, cardiac defects, lung development, craniofacial defects, limb malformations, eye defects, epithelial-mesenchymal interactions, extracellular matrix, tissue remodeling, neural crest, TGF-beta isoforms, compensatory function
- MeSH terms
- Abnormalities, Multiple, Animals, Bone and Bones, Cleft Palate, Cyanosis, Embryonic Induction, Epithelium, Eye Abnormalities, Genes, Homeobox, Heart Defects, Congenital, Ear, Inner, Mesoderm, Mice, Inbred C57BL, Phenotype, Tretinoin, Urogenital Abnormalities, Transforming Growth Factor beta, Mice, Knockout, Craniofacial Abnormalities, Mice
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