Primary Identifier | MGI:1916703 | Organism | mouse, laboratory |
Chromosome | 1 | NCBI Gene Number | 69453 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables serine-type endopeptidase activity. Involved in proteolysis. Acts upstream of or within camera-type eye development. Located in endoplasmic reticulum. Is expressed in nervous system and visual system. Used to study isolated microphthalmia 6. Human ortholog(s) of this gene implicated in isolated microphthalmia 6. Orthologous to human PRSS56 (serine protease 56). PHENOTYPE: Mice homozygous for an ENU induced mutation show increased intraocular pressure, variable decreases in eye axial length, and narrow iridocorneal angles. Homozygous mice model angle-closure glaucoma. [provided by MGI curators] |