Link to Pubmed [PMID] – 17304534
Genesis 2007 Mar;45(3):107-12
Extra-toes is a semidominant mutation that affects the Gli3 gene and provokes limb and brain abnormalities. Among the different alleles of this mutation, Xt(H) is due to a deletion that has not yet been fully characterized. Using a PCR-based strategy, we undertook a high-resolution mapping of this deletion and confirmed that Xt(H) is a null allele of Gli3. We further designed a PCR test to identify unequivocally heterozygous and homozygous embryos from their wild-type littermates. Despite the length of the Xt(H) deletion, available data on the mouse genome indicate that no genes other than Gli3 are deleted in Xt(H) mutants. Thus, the Xt(H) mutation can be used as a model for studying the effects that absence of Gli3 function has during development.