Embryonic lethality in association with the homozygous insertion at CFA9:6048201 was identified in breeding experiments.

At left are crosses between V4, a fertile GSHP XX DSD and GSHP males (PM6578, V31). At right are crosses between V4 and males from the XX DSD model pedigree (C752, C734), which vary in proportion of American cocker spaniel and beagle genetic background (ACS/BGL). Genotypes at the insertion locus (CFA9:6048201) are homozygous (G+G+), heterozygous (G+/-), or wild type (-/-). Females are indicated by open circles, XX DSD by filled circles, and XY males by squares. Each symbol represents one dog, except those containing a number, which indicates the number of dogs represented by that symbol. None of the offspring had the G+G+ genotype. Based on simple Mendelian inheritance, the expected number of -/-, G+/- and G+G+ offspring from the G+/- sires and dams is 4.25, 8.5, and 4.25, respectively (N = 17). This is significantly different from the numbers observed (x² = 8.1776, df = 2, Chi-squared test is significant at p<0.025 since 8.1776>7.38). Similarly, the expected number of G+/- and G+G+ offspring from a G+/- dam and G+G+ sire (V4 x C734) is 11 and 11, respectively (N = 22). This is a highly significant difference from the numbers observed (x² = 20.04, calculations include continuity correction for df = 1 [45]; Chi-squared test is significant at p<0.005 since 20.04>7.88). Since all offspring of C734 (G+G+) must have received the G+ allele from him, only those receiving the wild type allele from the GSHP V4 dam (G+/-) were born. Together, these results indicated that the G+G+ genotype, combined with ≥50% GSHP background, is associated with embryonic lethality.