Nkx2-5^tm1.1Hkas

A CGT to GGT point mutation was inserted in exon 2 resulting in a homeodomain missense mutation in which an arginine was changed to a glycine at amino acid 188 which corresponds to homeodomain position 52 (R52G). A floxed neomycin resistance gene was also inserted downstream of exon 2 and removed via cre-mediated recombination. Western blot analysis confirmed protein expression. This is a mutation identified in patients with familial congenital heart disease. (J:273096)