Four unrelated dogs with brittle bones have been identified, each with distinct abnormalities in type I collagen consistent with osteogenesis imperfecta (OI). Three dogs were severely affected and one had moderate disease. Two dogs had dentigenesis imperfecta. The mode of inheritance appeared to be dominant in three dogs and recessive in one dog. During this project, techniques of protein chemistry and cDNA cloning and sequencing will be performed to test the hypothesis that a different mutation in the COL1A1 or COL1A2 gene is the cause of each variant of canine OI. This work will establish the dog as a model of human OI, and permit experimental analyses of the disease that are not possible in humans.

Agency
National Institute of Health (NIH)
Institute
National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS)
Type
Postdoctoral Individual National Research Service Award (F32)
Project #
5F32AR008428-03
Application #
6016864
Study Section
Special Emphasis Panel (ZRG3-BIO (03))
Program Officer
Sharrock, William J
Project Start
1999-06-01
Project End
Budget Start
1999-06-01
Budget End
1999-08-31
Support Year
3
Fiscal Year
1999
Total Cost
Indirect Cost
Name
Cornell University
Department
Pathology
Type
Schools of Veterinary Medicine
DUNS #
City
Ithaca
State
NY
Country
United States
Zip Code
14850