Osteogenesis Imperfecta

Gene involved
SERPINH1

Mutation tested
c.977C>T

Transmission mode : Autosomal recessive

Publication : Drögemüller et al. (2009). A missense mutation in the SERPINH1 gene in Dachshunds with osteogenesis imperfecta.

Gene involved
COL1A2

Mutation tested
c.936+1G>A

Transmission mode : Autosomal dominant

Publication : Quist et al. (2018). Identification of a candidate mutation in the COL1A2 gene of a Chow Chow with osteogenesis imperfecta.

Concerned breeds :