A C57BL KSJ MOUSE MODEL OF NIEMANN-PICK DISEASE (SPM) BELONGS TO THE SAME COMPLEMENTATION GROUP AS THE MAJOR CHILDHOOD TYPE OF NIEMANN-PICKDISEASE TYPE-C/

A cell line (SPM-3T3) derived from a C57BL/ KsJ mouse model of Niemann -Pick disease type C (NP-C) shows biochemical abnormalities similar to those in fibroblasts derived from NP-C. Somatic cell hybridization an alysis of the SPM-3T3 cells and five fibroblast strains derived from N P-C patients (four childhood cases and one adult case) was carried out . The criterion for complementation was the restoration of a normal in tracellular fluorescent pattern in multinucleated cells stained with f ilipin to demonstrate cholesterol accumulation. These cells can be ass igned to two complementation groups. The SPM-3T3 cells did not complem ent cell strains derived from childhood-type NP-C, while they compleme nted a cell strain derived from an adult patient. Our results suggest that SPM-3T3 represents a genetically authentic model of a major compl ementation group of NP-C, and that NP-C consists of genetically hetero geneous groups.