Category:

Musculoskeletal - Associated with muscles, bones and associated structures

Gene:

Serpin family H member 1 (SERPINH1) on Chromosome 21

Variant Detected:

Base Substitution c.977C>T p.Leu326Pro

Severity:

Moderate. This disease can cause significant signs of discomfort and/or dysfunction in affected animals. It may involve relatively high treatment/management costs, and can sometimes reduce life expectancy.

Mode of Inheritance:

Autosomal Recessive

Research Citation(s):

Drögemüller C, et al. A missense mutation in the SERPINH1 gene in Dachshunds with osteogenesis imperfecta. (2009) PloS genet 5(7); e1000579.

Associated Breed(s):

Dachshund , Miniature Dachshund, Miniature Dachshund Long Hair, Miniature Dachshund Short Hair, Miniature Dachshund Smooth Hair, Miniature Dachshund Wire Hair, Mixed Breed,