Role of L1 in neural development: what the knockouts tell us.
Mutations in the cell adhesion molecule L1 cause severe developmental anomalies in the human nervous system. Recent descriptions of L1 gene knock-out mice from three research groups demonstrate that these mice are strikingly similar to humans with mutations in the L1 gene. In both humans and mice there are defects in the development of the corticospinal tract and cerebellar vermis, hydrocephalus, and impaired learning. The production of a viable animal model for X-linked hydrocephalus suggests that unanswerable questions posed by the human disease will finally be approachable using modern experimental methods.
Department of Neurosciences, Case Western Reserve University, Cleveland, Ohio, 44106, USA.
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D000818:Animals; D002531:Cerebellum / Q000737:chemistry / Q000196:embryology*; D004195:Disease Models, Animal; D018507:Gene Expression Regulation, Developmental; D006801:Humans; D039841:Leukocyte L1 Antigen Complex; D008562:Membrane Glycoproteins / Q000235:genetics*; D051379:Mice; D018345:Mice, Knockout / Q000502:physiology*; D009154:Mutation; D019006:Neural Cell Adhesion Molecules / Q000235:genetics*; D011712:Pyramidal Tracts / Q000737:chemistry / Q000196:embryology*
D039841:Leukocyte L1 Antigen Complex; D008562:Membrane Glycoproteins; D019006:Neural Cell Adhesion Molecules