Primary Identifier | MGI:87882 | Organism | mouse, laboratory |
Chromosome | 2 | NCBI Gene Number | 11432 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables acid phosphatase activity. Acts upstream of or within lysosome organization and skeletal system development. Located in lysosome. Is expressed in several structures, including future brain; genitourinary system; hemolymphoid system gland; nervous system; and retina. Orthologous to human ACP2 (acid phosphatase 2, lysosomal). PHENOTYPE: Homozygous mutation of this gene result in skeletal defects and a small percentage of mutant animals exhibit tonic-clonic seizures. Mice with a missense mutation (Gly244Glu) are growth retarded and exhibit a disrupted cerebellum cytoarchitecture, an abnormal hair shaft, and skin malformations. [provided by MGI curators] |