Fig. 2

Fig. 2  Positional cloning of the bal^a69 mutation. (A) Genetic map of chromosome 24 containing the bal^a69 mutation. Microsatellite markers, genomic contigs (ctg), and gene names are indicated with number of recombinants and embryos genotyped. (B–D) Sequence chromatograms showing lama1 mutations in (B) bal^a69, (C) bal^arl, and (D) bal^uw1. For each, DNA sequence for wild-type (top, left) and homozygous mutants (bottom, left) are shown. Altered codons are indicated with boxes and the uw1 splice-site mutation is indicated with arrows. Corresponding protein changes are shown on the right of each panel. Mutant Lama1 sequence (red) is aligned with wild-type sequence from human (h), mouse (m), and zebrafish (z). Light grey highlights show amino acids conserved in multiple species, whereas dark grey highlights indicate residues conserved in all species. Asterisk indicates the termination codon. INSERT^60AA indicates the translated intronic regions predicted from the bal^uw1 splice-site mutation. (E) Schematic of Lama1 protein with a69, arl, and uw1 mutation positions indicated by arrows. Lama1 domains are indicated: black box—N-terminal domain; light grey rectangles—EGF repeats; green rounded rectangles—laminin B domains; red cross-hatched rectangle—laminin coiled-coil domain; blue ellipses—C-terminal globular domains.