Mice homozygous for this ENU-induced "Pc1<sup>N222D</sup>" mutation are viable and fertile, although the donating investigator reports that homozygous breeders have diminished reproductive performance. Unlike mice homozygous for the traditional knockout allele, Pc1<sup>N222D</sup> homozygotes are not runted. Homozygous mice exhibit obesity, abnormal proinsulin processing and multiple endocrinological defects. Increased energy intake and a more efficient metabolism contribute to the obesity. Defective proinsulin processing leads to glucose intolerance, but neither insulin resistance nor diabetes develop despite obesity. Obesity is associated with impaired autocatalytic and neuropeptide processing. These mutant mice are a model of human PC1 deficiency, and may be useful in studying obesity, fat metabolism, propeptide processing, and neuroendocrinology.

Homozygotes for this ENU induced proprotein convertase subtilisin/kexin type 1 mutation exhibit obesity, abnormal proinsulin processing and multiple endocrinological defects, and are a model for human PC1 deficiency.

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