Cant1^tm1.1Aros

A G to A transition at position 905 (c.G905A) resulting in an arginine to histidine substitution at amino acid 302 (p.R302H) was introduced in exon 4. In addition, an FRT-flanked neomycin selection cassette and loxP site were inserted upstream of exon 3 and a second loxP site was inserted downstream of mutated exon 4. The selection cassette was removed via flp-mediated recombination leading to the generation of knock-in mice bearing the R302H missense mutation. This mutation is homologous to the p.R300H substitution in the active site of the human gene which has been detected in patients with Desbuquois dysplasia type 1. (J:282272)