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Associated Breed(s):
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Labels:
Category:
Musculoskeletal - Associated with muscles, bones and associated structures
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.
Gene:
Collagen alpha-2(XI) chain gene (COL11A2) on chromosome 12
Variant Detected:
Base Substitution c.143G>C p.Arg48Pro
Mode of Inheritance:
Autosomal Recessive with Incomplete Penetrance
OMIA Reference:
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