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Symbol LYST contributors: shn/npt - updated : 10-12-2009
HGNC name lysosomal trafficking regulator
HGNC id 1968
  • mutation in beige gene, a homologue of the gene for the human disorder Chediak-Higashi syndrome, in mouse results in hypopigmentation, bleeding and immune cell dysfunction (Perou 1996)
  • murine mutant Lyst allele (bg-grey) found in an ENU mutation screen exhibits melanosomes of melanocytes associated with hair follicles and the choroid layer of the eye and melanosomes in the neural tube-derived pigment epithelium of the retina. Secretory vesicles in dermal mast cells of the mutant skin were enlarged. Double heterozygotes (Lyst(bg)/Lyst(bg-grey)) were phenotypically indistinguishable from either homozygous Lyst(bg) or Lyst(bg-grey) (Runkel 2006)
  • Lyst mutant mice uniformly exhibit exfoliation syndrome-like transillumination defects : sawtooth morphology of the iris pigment epithelium, produce an exfoliative-like material and pronounced pigment dispersion (Trantow 2009)