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FLASH GENE
Symbol L1CAM contributors: mct/shn - updated : 17-01-2012
HGNC name L1 cell adhesion molecule
HGNC id 6470
ANIMAL & CELL MODELS
  • Cerebellar granule neurons expressing a deletion mutant of L1CAM lacking the cytoplasmic domain (hL1-1147) show a reduced branching of neurites (
  • L1-6D mutant mice, homozygous for a deletion removing the sixth immunoglobulin-like domain of L1cam, seldom display hydrocephalus on the 129/Sv background, while the same L1-6D mutation produces severe hydrocephalus on the C57BL/6J background (
  • L1cam knockout mice have hydrocephalus, a small cerebellum, hyperfasciculation of corticothalamic tracts, and abnormal peripheral nerves (
  • Enhanced expression of L1-CAM may contribute to the pain syndrome and perineural invasion and may correlate with poor overall survival in human pancreatic cancer (
  • L1CD mutant lines that lack the ankyrin-binding region display normal brain morphology but the expression of L1 protein in the adult is dramatically reduced and they show defects in motor function (
  • L1CAM expression leads to the activation of the nuclear factor (NF)-&
  • 954;B pathway, promoting cell proliferation in vitro and metastasis formation in vivo (