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Osteochondrodysplasia (Min Poodle Type)
Test Overview:
The osteochondrodysplasias represent a broad group of cartilage and bone disorders stemming from structural, metabolic, and endocrinological causes. An osteochondrodysplasia was described in the Miniature Poodle breed nearly 60 years ago [1], though the defect remains unresolved molecularly. The disorder is grossly characterized by stunted growth and abnormal locomotion, first observable at three weeks of age.
Category:
Musculoskeletal - Associated with muscles, bones and associated structures
Gene:
SLC13A1
Variant Detected:
g.63600045_63729942del129897bp
Severity:
Low-Moderate. This disease can cause some discomfort and/or dysfunction in the affected animal. It does not generally affect life expectancy.
Mode of Inheritance:
Autosomal Recessive
Research Citation(s):
ALPLoS One. 2012;7(12):e51917. doi: 10.1371/journal.pone.0051917. Epub 2012 Dec
Associated Breed(s):
Labradoodle , Labradoodle Retrodoodle , Miniature Poodle, Toy Poodle,
