The <i>bfb</i> mouse harbours a mutation in Fras1.

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