These SHP2fl/fl mutant mice possess loxP sites flanking exons 3-4 of the protein tyrosine phosphatase, non-receptor type 11 (Ptpn11) gene. PTPN11 encodes SHP2, which is implicated in tumor formation and regulates cell migration, proliferation, survival, and differentiation, epithelial-mesenchyal-transition (EMT), and senescence. Mutations in this gene have been associated with Noonan and Leopard syndromes, characterized by cardiac disease, and craniofacial, brain, and skin abnormalities. Mice that are homozygous for this allele are viable and fertile. When bred to mice that express tissue-specific Cre recombinase, resulting offspring will have exons 3-4 deleted in the cre-expressing tissues.
For example, when bred to STOCK Tg(Wnt1-cre)11Rth/J mice (Stock No. 003829) expressing Cre Recombinase in neural crest cells, resulting homozygous mice were embryonic lethal beginning at E13.5 and have decreased numbers of Schwann cells and neural crest cells, and have defects in axon outgrowth and myelination. They also exhibit craniofacial and pigmentation abnormalities.
When bred to FVB(Cg)-Tg(Dhh-cre)1Mejr/J mice (Stock No. 012929) expressing Cre Recombinase in Schwann cells, resulting mice have decreased numbers of Schwann cells and defects in myelination.
