Prepared by Jocelynn Jacobs-Knoll, DVM (Oct 2000)
How many samples/families are in the study
MSU - 93 total samples: 28 affected, 48 normal, 17 unknown (not labeled or labeled
as unknowns) --- too many unknowns and those aren't helpful at this point --- all
samples need to be CERFed. Have 15 families submitted at this time, but some only
consist of sire/dam/1 offspring. Have 3 nice pedigree family trees (mother, father,
and multiple CERFed siblings, some aunts and uncles also submitted in these 3
families) - 1 of these family trees is still having samples sent in. Need additional
families like these 3.
How many more needed?
Depends on the family tree and getting lucky. In Scotties, it was 1 family that provided
the key. Some other breeds, it takes dozens of full family trees.
Only want dogs with cataracts/lens lesions that are young to middle aged dogs - no old
age cataracts are being evaluated because they can be secondary to other metabolic and
aging diseases - not necessarily hereditary cataracts. It is important to make sure
the samples being submitted are from dogs over 18 months of age since some of the
cataracts do not show up until 18 months of age. Please have the dog CERFed after
18 months old and then send in the cerf paper and swab.
How do you submit the sample to MSU?
Get swabs from MSU or Jocelynn Jacobs-Knoll, DVM
Take swab and rub/twirl between cheek and gum line of the dog. Label the sample - can
use a code or call name or whatever you want. Have your name with the sample though so
if they have a question, they can call you.
Send DIRECTLY to MSU (Dr. Vilma Gurken). Must have CERF paper (photocopy the original
from the ophthalmologist) - can "white out" AKC names if necessary and put codes or call
names or whatever - just make sure the name of the person sending them in has name
associated with the sample so MSU can call you if they have a problem or question.
EVERYTHING is kept confidential.
Send in as many samples related to the affected dog as possible - mother, father,
brothers and sisters. Have those dogs CERFed as well and their papers sent in with
their swab as well. Be sure to make a mini pedigree up so that they know how the dogs
Also, be sure to submit swabs and CERF papers of the dogs over 18 months of age to
assure they really are "clear" - some dogs don't get cataracts until over a year old.
Again, old dogs with old age cataracts should not be sent it - they are looking for
cataracts that develop in young to middle aged malamutes at this time.
When does the current AKC Canine Health Foundation
grant expire? Will it be renewed?
AKC grant expires in May 2000. Dr. Vilma is committed to the program and WILL get
funding somewhere because she feels she finally is getting enough samples to start to
get closer to an answer - she doesn't want to let this one slide - she wants to see it
through. She is looking at Mark Morris Associates, NIH funding, AKC and breed money.
What do we know so far from the research done at
So far, the research has ruled out 22-35% of the canine genome - they know it is not
in those parts of the genome at this point. The entire canine genome is being evaluated
which is a large job. We still have about 65-78% of the genome to rule out or find the
marker in. They are grouping each type of cataract together (based on size, shape, when
it appears, etc) and will start with the most common and then at a later date look at
others that might be the second most common, etc.
How are the other 2 Arctic breeds doing with
samples, support, etc?
The Siberian Huskies and Alaskan Malamutes have the most samples submitted at this time
and have been the most supportive at this point - Samoyeds have very few samples in at
this time. Once the first Arctic breed marker has been located, then that may help the
other breeds as well since they will immediately see if that is the same marker for
their breeds. So, all breeds giving lots of samples is important.
What are the goals of MSU with this project?
To find a linked marker first - that is to find a marker on the genome that is right
next to or always around the gene that causes the cataract being looked at. A test can
be made available after this marker is found to "clear" a dog of carrying the gene,
however, it is not 100%. Finding the actual gene or genes is the best way to "clear"
a dog to see if they have it.
To find the actual gene or genes that cause the problem. Then a test that is much more
accurate can be produced.