Osteogenesis Imperfecta Dachshund (OI-DACH)
Brittle Bone Disease, OI
Osteogenesis imperfecta (OI) is an inherited disorder that causes defective collagen that leads to extremely fragile bones and teeth. Collagen is an important component for bone development and when missing results in thinner more fragile bones that break easily following trauma and do not heal adequately. Other symptoms can include loose joints and brittle teeth which also both require a sufficient supply of collagen for proper development. Due to the severity of the disease, pups with OI are typically euthanized to prevent further suffering.
Reading Your Results
A. (CLEAR/NORMAL):
These dogs have two copies of the normal gene and will neither develop Osteogenesis Imperfecta nor pass this mutation to their offspring.
B. (CARRIER/NOT AFFECTED):
These dogs have one copy of the normal gene and one copy of the mutation associated with this disease. They will not develop Osteogenesis Imperfecta but will, if bred, pass the mutation to 50% of its offspring, on average.
C. (AT RISK/AFFECTED):
These dogs have two copies of the mutation associated with Osteogenesis Imperfecta which will likely result in fragile bones, teeth and joints.
Additional Details
Inheritances
Autosomal Recessive
Affected gene
SERPINH1
Chromosome
Ch. 21
Mutation
C.977T>C
Publication:
Drögemüller C, Becker D, Brunner A, Haase B, Kircher P, Seeliger F, Fehr M, Baumann U, Lindblad-Toh K, Leeb T. A missense mutation in the SERPINH1 gene in Dachshunds with osteogenesis imperfecta. PLoS Genet. 2009 Jul; 5(7):e1000579. [PubMed: 19629171]
