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FLASH GENE
Symbol VHL contributors: mct/shn - updated : 13-07-2018
HGNC name von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase
HGNC id 12687
ANIMAL & CELL MODELS
  • extracellular fibronectin matrix assembly by VHL-/- mouse embryos and mouse embryo fibroblasts (MEFs)was grossly impaired (
  • loss of DVhl in Drosophila resulted in an ventral midline defect (
  • deletion of the Von Hippel-Lindau gene (Vhlh) from intrinsic glomerular cells of mice is sufficient to initiate a necrotizing crescentic glomerulonephritis and the clinical features that accompany rapidly progressive glomerulonephritis (
  • murine embryonic depletion of Vhlh within the pancreatic epithelium causes postnatal lethality due to severe hypoglycemia
  • mice homozygous for the R200W mutation developed polycythemia (
  • Vhlh-deficient mice exhibited diminished glucose-stimulated changes in cytoplasmic Ca(2+) concentration, electrical activity, and insulin secretion, which culminate in impaired systemic glucose tolerance (
  • Vhl(2B/2B) mice displayed mid-gestational embryonic lethality, whereas adult Vhl(2B/+) mice exhibited susceptibility to carcinogen-promoted renal neoplasia (
  • pVHL-deficient RCC 786-O cells were multinucleated and polyploid (