Australian Shepherd Health & Genetics Institute

Australian Shepherd Health & Genetics Institute

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“Skeletal Lethal”

France-flagGermany-flagItaly-flagNetherlands-flagAugust 2013


Several scientific papers were published in the 1980s and early 1990s about a n orthopedic disease specific to Australian Shepherds involving multiple skeletal anomalies, including cleft palate.  In Europe it has been referred to as “skeletal lethal.”   This disease was due to an X-linked mutation that arose in a single female dog.  All male offspring that inherited the mutation had severely deformed skeletons and cleft palate; all but one died shortly after birth.  Females with a copy of the mutation had crooked long bones in the legs and polydactyly and/or fused toes.  Presumably, if a female were to inherit two copies of the mutation she would be as severely affected as the males.

This is not a breed health problem.  It was confined to one family of dogs. Very few if any of them remain today.