Fig 2. Origin and transmission of cataract in Red Holstein Friesian cattle.

The pedigree depicts the ancestry of the affected individuals (grey, purple and blue symbols). Two cases are not displayed in the family tree. Neither maternal nor paternal lines were clearly documented. Animal #183 was also genotyped T/T for the variant g.5995966C>T in CPAMD8. The origin of the cataract-causing mutation was traced back to founder sire #780 (yellow symbol). The dam´s sires in 20 of 31 cases were sires #053, #890, #977, marked with brown symbols. The red symbol shows sire #870, father of 26 of 31 cases. This animal (#870) was also used for whole genome re-sequencing, as the green (mother and maternal grandmother of one case) and purple (cattle with congenital cataract) marked cattle. The blue and purple symbols mark the four dissected cases. Family tree was created using Pedigraph [22].