Fig. 3

Hydrallantois locus in a 3.52 Mb segment on bovine chromosome 10 and missense mutation (p.Pro372Leu) in SLC12A1 a Autozygosity mapping for the hydrallantois locus on bovine chromosome 10 (BTA10) using ASSIST program. Blue and magenta dots measure the genome-wide probability that the six hydrallantois-affected fetuses share the segment of autozygosity (blue, odd numbers of chromosomes; magenta, even numbers of chromosomes). Evidence for linkage (y-axis) is measured as log (1/P), with P being determined by 10,000 phenotype permutation tests. b Genotype of six affected and 17 unaffected calves from 55,394,143 to 70,578,112 bp on BTA10. Homozygous genotypes are shown in blue (AA), and light blue (BB), and heterozygous genotypes in white. A homozygous segment encompassing the hydrallantois locus in the six affected individuals is shown with a magenta bar. c Gene content of the 3.52 Mb autozygous segment. Ensembl transcript IDs were labeled. d Cattle SLC12A1 and interspecies alignments of the region flanking p.Pro372Leu (magenta), showing conservation of the p.Pro372 residue (blue). (E) SLC12A1 is a 12 membrane-spanning transmembrane protein. The p.Pro372Leu resides (magenta arrow) within the third portion of the predicted extracellular side