Fig. 1.
Bbs1M390R/M390R knockin gene targeting. Bbs1 exon 12 (denoted with an asterisk) is replaced with an M390R-containing alternate exon on homologous recombination. Arrows indicate primers used for the 5′ and 3′ homologous recombination test (A). Sequencing of the entire Bbs1 cDNA of Bbs1 mutant animals confirms that the homozygous M390R (ATG to AGG) missense mutation was homologously recombined with integrity (asterisk) (B). Northern blot analysis of Bbs1 expression in 20 μg of total cellular RNA from wild-type (WT) and mutant brains by using a Bbs1 partial 5′ cDNA probe (Upper) and β-actin as a loading control (Lower) (C).