Mcoln1-/- mice contain a neo cassette replacing exons 3-4 and part of exon 5 of the mucolipin 1 (Mcoln1) gene, abolishing gene expression. Mcoln1 encodes a transmembrane cation channel localized to intracellular vesicular membranes including lysosomes, and functions in the late endocytic pathway and in the regulation of lysosomal exocytosis. Mutations in MCOLN1 have been associated with Mucolipidosis type IV (MLIV), an autosomal recessive lysosomal storage disorder characterized by severe mental retardation, delayed motor milestones, ophthalmologic abnormalities, constitutive achlorhydria, and elevated plasma gastrin levels. Homozygotes are viable and fertile with a median age of 8 months. Mice exhibit numerous dense inclusion bodies in all cell types in brain, elevated plasma gastrin, vacuolization in parietal cells, and retinal degeneration. They have neurological defects as evident by gait deficits at 6.5 months of age, leading to complete hind-limb paralysis in 3-4 weeks. They also exhibit limb clasping at 3 months, loss of subcutaneous fat, and decreased muscle mass at the end-stage.

Mcoln1-/- mice may be useful for studying the lysosomal storage disorder Mucolipidosis type IV (MLIV).

Typically mice are recovered in 12-16 weeks. Contact Customer Service to place an order or for more information.

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