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A congenic, non-obese diabetic (NOD) mouse strain that contains a segment of chromosome 3 from the diabetes-resistant mouse strain B6.PL-Thy-1a was less susceptible to diabetes than NOD mice. A fully penetrant immunological defect also mapped to this segment, which encodes the high-affinity Fc receptor for immunoglobulin G (IgG), Fc gamma RI. The NOD Fcgr1 allele, which results in a deletion of the cytoplasmic tail, caused a 73 percent reduction in the turnover of cell surface receptor-antibody complexes. The development of congenic strains and the characterization of Mendelian traits that are specific to the disease phenotype demonstrate the feasibility of dissecting the pathophysiology of complex, non-Mendelian diseases.

Type

Journal article

Journal

Science

Publication Date

30/04/1993

Volume

260

Pages

695 - 698

Keywords

Animals, Autoimmune Diseases, Base Sequence, Crosses, Genetic, Diabetes Mellitus, Type 1, Endocytosis, Female, Gene Deletion, Genetic Linkage, Genetic Markers, Immunoglobulin G, Male, Mice, Mice, Inbred NOD, Molecular Sequence Data, Mutation, Phenotype, Receptors, IgG