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Symbol RB1 contributors: mct/shn - updated : 01-03-2017
HGNC name retinoblastoma 1
HGNC id 9884
  • expression of a viral oncogene, the simian virus 40 T antigen, in the retina of transgenic mice produces heritable ocular tumours with histological, ultrastructural and immunohistochemical features identical to those of human retinoblastoma
  • mice with an insertional mutation in exon 20 of the Rb-1 locus die before the 16th embryonic day with multiple defects
  • mice with Rb1 conditionnaly deleted in the central nervous system show an increase in neuronal number due to aberrant S phase entry without apoptosis
  • disruption of the retinoblastoma gene in mice leads to embryonic lethality in midgestation accompanied by defective erythropoiesis, inappropriate cell cycle activity and apoptosis in the central nervous system, peripheral nervous system and ocular lens
  • adult pRb(-/-) mice exhibit profound hearing loss due to progressive degeneration of the organ of Corti
  • mouse embryonic fibroblasts lacking the retinoblastoma genes RB1 display genomic instability
  • defective mitotic chromosome structure caused by mutant pRB accelerates loss of heterozygosity lead to earlier tumor formation in Trp53(+/-) mice