Figure 2. The bfb mouse harbours a mutation in Fras1.

(A) Chromatogram of Fras1 gene sequence identifying the c.10762T>C mutation in Fras1^bfb/bfb mice. (B) Sequence alignment of the Fras1 protein sequence showing the amino acid residue affected in Fras1^bfb/bfb is highly conserved across evolution. (C) Schematic of the Fras1 protein detailing protein domains, location of Fras1^bfb/bfb mutation in the C-terminal region, the blebs mutation (bl), and reported human mutations (NM_025074). ^?heterozygous,⁺compound heterozygous, ^#homozygous, black; Fraser Syndrome, red; CAKUT, blue; Ablepharon macrostomia syndrome/Fraser Syndrome.