As most of these mutations are located in exons 11 and 12 of ANO5, and given the high conservation of ANO5 between humans and mice, our group successfully established an Ano5-knockout mouse model targeting exons 11 and 12, exhibiting a similar skeletal phenotype to that of GDD, with increased serum ALP levels in vivo and enhanced osteogenic capacity of mCOBs in vitro. Here, ANO5 is linked to gnathodiaphyseal dysplasia.