Fig. 3. Mutation detection in Lrp6. (A) Chromatograms show the C to T
transition in rs. (B) PCR-based genotyping with HpaII
digestion. In wild-type (BALB/c and C57BL/6 in lanes 1 and 2, respectively),
the 458-base product from wild-type is cut into three fragments (205, 154 and
99 bases), while one from rs into only two fragments (359 and 99
bases) (Lane 4). Heterozygous specimens show four fragments (359, 205, 154 and
99 bases) (lane 3). (C) A schematic drawing of the Lrp6 protein structure with
designations for known functional domains. The rs mutation resides
right in front of the third EGF-like repeat. (D) The Arg (R) residue at the
corresponding positions is highly conserved among various Lrp proteins.
Designations after Lrp: M, mouse; H, human; D, Drosophila; F,
Xenopus; C, C. elegans.