Phenotypes

Becker et al. (2020) "detected a 50-kb deletion in the targeted chromosomal region that was in the heterozygous state in the cases’ sire" in whole genome sequencing data and "confirmed that this detected deletion segregated perfectly within the family with tetradysmelia. The deletion spanned three exons of the bovine R-spondin 2 (RSPO2) gene, which encode three domains of the respective protein."