The cause of bovine osteopetrosis is a defective activity of osteoclasts and resultant accumulation of primary spongiosa in marrow cavities and formation of extremely dense, fragile bones. A large deletion mutation in SLC4A2 of chromosome 4 has been attributed to this disease manifesting in Aberdeen Angus.
Affected calves are typically stillborn with a flat skull, impacted molars, shortened mandible (brachygnathia inferior) and protruding tongue.
DNA testing of calves and prospective cows and sires can be done to confirm a diagnosis.
No specific treatment is required for these calves as most succumb to their illness.
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