A 5-bp Insertion in Mip Causes Recessive Congenital Cataract in KFRS4/Kyo Rats
Figure 3
Positional cloning of the kfrs4 mutation.
A. Haplotype analysis for (KFRS4/Kyo × DOB/Oda) F1 × KFRS4/Kyo backcross progeny in the proximal region of chromosome 7. Markers are shown to the left. The number of offspring inheriting each type of chromosome is listed at the bottom of each column. B. Mutation analysis of Mip in the KFRS4/Kyo rat. Sequence analysis (left panels) for exon 1 of Mip in DOB/Oda (+/+, top), (KFRS4/Kyo x DOB/Oda) F1 (kfrs4/+, middle), KFRS4/Kyo (kfrs4/kfrs4, bottom) rats. A 5-bp insertion (AACAC, pink and dark orange labelled in the bottom panel) is found in kfrs4/+ and kfrs4/kfrs4 rats. A size analysis (right panels) of fragments across the deletion revealed a 109-bp amplicon in the homozygous kfrs4/kfrs4 rats (bottom) compared with a 104-bp amplicon in the +/+ rats (top); both amplicons were present in the kfrs4/+ rats (middle).