HEALTH NEWS AND SUTDIES GOING
ON FOR THE AUSSIE
Link to information on current Research projects going on for the Australian
shepherd and health issues
http://www.ashgi.org/research.htm


Genetic Mutation Associated With Hereditary Cataract In The
Australian Shepherd –Launch of New DNA Test At Animal Health
Trust

Background
During 2006 researchers at the Animal Health Trust, UK identified a genetic mutation in a small
number of Australian Shepherds affected with Hereditary Cataract (HC).  To further
investigate the relationship between the mutation and HC in the breed the AHT recruited and
analysed DNA samples from a large number of additional Australian Shepherd from the UK,
Europe and USA.

The results show conclusively that the mutation is a risk factor for the development of
cataract in the Australian Shepherd.

Our study indicates that the likelihood of developing bilateral posterior cataracts is
approximately 12 times higher for Australian Shepherds that carry the mutation (either one or
two copies) than it is for dogs that don’t carry the mutation.  The mutation is dominant, which
means that dogs only need to inherit a single copy of the mutation to be at increased risk of
developing cataracts.
 This also means that dogs/bitches that have produced offspring with
cataracts are not necessarily carriers of the mutation as the affected offspring may have
inherited a single copy of the mutation from their other parent.

DNA Test Available March 2008
The Animal Health Trust is very pleased to announce the launch of a DNA test based on the
mutation we have identified.  The test will be available from March 10th.  For full details
regarding how to submit a sample for testing will shortly be made available on our website
(
www.aht.org.uk).

What The Results Mean
If your dog carries one or two copies of the mutation it has an increased chance of developing
bilateral posterior cataracts.  We currently estimate it is about 12 times more likely to develop
this type of cataract than a dog that doesn’t carry the mutation.  If your dog does not carry the
mutation it has a lower chance of developing cataracts, during its lifetime.  It is possible that
additional mutations exist in the Australian Shepherd population that are also risk factors for
the development of cataracts; our DNA test does not currently detect these mutations.

If your dog carries a single copy of the mutation it will pass the mutation (and the increased
risk of developing cataracts) onto to approximately 50% of its offspring.  If it carries two copies
of the mutation it will pass the mutation onto all of its offspring.