Mine Disruption Phenotype

Gene Info

  • Species:Mouse (Mus musculus)
  • GeneID:18016
  • Symbol:Nf2
  • Description:neurofibromin 2
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Gene ID Entry Entry Name Protein Name Type Information
18016 P46662 MERL_MOUSE Merlin (Moesin-ezrin-radixin-like protein) (Neurofibromin-2) (Schwannomin) DISRUPTION PHENOTYPE Mice are born with abnormally small lenses with serious structural defects. Failure of lens vesicle separation and the resulting changes in cell organization causes lenses to herniate, leading to expulsion of lens fiber cells through a perforation in the cornea. Developing lenses show loss of cell apical-basal polarity, failure of the lens vesicle to separate from the surface ectoderm, failure to properly exit the cell cycle during fiber cell differentiation and incomplete terminal differentiation of fiber cells. {ECO:0000269|PubMed:20181838}.