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HGNC UniGene Nucleotide OMIM UCSC
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Symbol CTNNB1 contributors: shn/npt/pgu - updated : 19-10-2017
HGNC name catenin (cadherin-associated protein), beta 1, 88kDa
HGNC id 2514
  • deletion of exon 3 in beta -catenine mice leads to adenomatous intestinal polyps resembling those in Apc knockout mice
  • Transgenic mice that overproduced an oncogenic form of beta-catenin in the epithelial cells of the kidney developed severe polycystic lesions
  • inactivation of mouse beta-catenin leads to ectopic formation of chondrocytes at the expense of osteoblast differentiation during both intramembranous and endochondral ossification
  • conditional inactivation of mouse beta-catenin blocks the differentiation and the development of osteoblast precursors into chondrocytes
  • conditional deletion of beta-catenin in mouse proepicardium led to impaired formation of coronary arteries. Mutant mice exhibited impaired epicardial development, including failed expansion of the subepicardial space, blunted invasion of the myocardium, and impaired differentiation of epicardium-derived mesenchymal cells into coronary smooth muscle cells
  • mice carrying CTNNB1 loss-of-function mutations show a delay in axonal sorting