Tgfbr1^tm1.1Sya

A G to T change a position 563 (c.563G>T) resulting in a glycine to valine substitution at codon 188 (p.G188V) was introduced in exon 3 along with a floxed neomycin resistance cassette downstream of exon 3. The neomycin resistance cassette was removed via cre-mediated recombination. This is a missense mutation identified in a patient with Loeys-Dietz syndrome showing severe periodontitis. (J:325431)