These PerkloxP/loxP mutant mice possess loxP sites flanking exons 7-9 of the eukaryotic translation initiation factor 2 alpha kinase 3 (Eif2ak3) gene. PERK is an endoplasmic reticulum (ER) transmembrane protein, expressed mainly in secretory and endocrine organs such as the pancreas. Mutations in PERK have been implicated in the onset of Wolcott-Rallison syndrome which is characterized by early onset of insulin-dependent diabetes, dwarfism, and skeletal dysplasias. Mice that are homozygous for this allele are viable and fertile. When these mutant mice are bred to mice that express Cre recombinase, resulting double mutant offspring will have exons 7-9 deleted in cre-expressing tissues.
For example, when crossed to B6.FVB-Tg(EIIa-cre)C5379Lmgd/J mice (Stock No. 003724), resulting Perk-/- mice exhibit permanent neonatal diabetes, exocrine pancreas atrophy, growth retardation, severe osteopenia, skeletal dysplasia, recurrent hepatitis, and behavior/neurological dysfunctions.
