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FLASH GENE
Symbol MCOLN1 contributors: mct/pgu - updated : 23-12-2013
HGNC name mucolipin 1
HGNC id 13356
ANIMAL & CELL MODELS
  • TRPML1 K.O mice show inclusion bodies, enlarged vacuoles, psychomotor defect, retinal degeneration, death at age approximately 8 months
  • neonatal enterocytes of mice lacking both mucolipins (Trpml3-/-;Trpml1-/-) vacuolated pathologically within hours of birth and remained so until weaning