Mutant myocilin disease models and uses thereof

Abstract

Provided are non-human animal genomes, non-human animal cells, and non-human animals that contain a humanized MYOC locus, as well as methods of making and using such non-human animal genomes, non-human animal cells, and non-human animals. The non-human animal cells or animals that contain a humanized MYOC locus express a human myocilin protein or a chimeric myocilin protein, a fragment of which is derived from human myocilin. Provided are methods for using such non-human animals that contain a humanized MYOC locus to evaluate the in vivo efficacy of human myocilin targeting reagents and reagents for treating glaucoma.

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