Sox9^tm1.2Ksec

LoxP sites were inserted into intron 2 and downstream of final exon 3, and a copy of exon 3 (with a C-to-G tyrosine (TAC) to stop codon (TAG) mutation in codon 440 (p.Y440*) and with IRES sequence, the EGFP reporter gene and poly(A) signal sequences in the 3' UTR) and an FRT site flanked neomycin resistance gene cassette were inserted downstream of the gene. The neo cassette was removed through subsequent Flp-mediated recombination and wild-type exon 3 was deleted through Cre-mediated recombination. This allele will express the mutant exon 3 (with its premature stop codon) together with the EGFP reporter. The mutation mimics the same human mutation, which is associated with campomelic dysplasia. (J:332093)