Additional file 6: of A de novo missense mutation of FGFR2 causes facial dysplasia syndrome in Holstein cattle

An intronic SNP of DMBT1 linked with facial dysplasia syndrome (FDS) in a family of Holstein cattle. a . Pedigree drawing and DMBT1 SNP genotypes. Filled black symbols represent affected calves with FDS, open symbols represent unaffected parents, squares indicate males, and circles indicate females. The case-parent trio subjected to whole genome re-sequencing is indicated by IGV screenshots showing the presence of the chromosome 26 g. 42'862'507G>A de novo variant. Note that the electropherograms presented below the pedigree symbols show that the mutant A allele is present in heterozygous form in FDS affected offspring only. b . Screenshot of the UCSC genome browser illustrating the genomic location (red line) of the de novo variant located in an intron of in silico predicted DMBT1 transcripts. (PDF 257 kb)