Cited by 1,447Developmental Biology and Gene RegulationTGF-β signaling in diseasesCraniofacial Disorders and Treatments

TGFβ2 knockout mice have multiple developmental defects that are non-overlapping with other TGFβ knockout phenotypes

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Sanford, L. Philip, Ormsby, Ilona, Groot, Adriana C. Gittenberger-de, Sariola, Hannu, Friedman, Rick, Boivin, Gregory P., Cardell, Emma Lou, Doetschman, Thomas·1997·Development

Abstract

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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  1. Sambrook J, Fritch EF, Maniatis T. Molecular Cloning: A Laboratory Manuel. 2nd Edition. Cold Springs Harbor, New York: Cold Spring Harbor Press; 1989. [Google Scholar]
  2. Van De Water TR. Epithelial-mesenchymal tissue interactions effect upon development of the inner ear (abstract) Anat. Rec. 1991;199:260. [Google Scholar]

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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
Published
1997-07-01
Volume
124
Issue
13
Pages
2659-2670
ISSN
  • 0950-1991 (ISSN-L)
  • 1477-9129
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
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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