Oculoskeletal Dysplasia (OSD3) in the Northern Inuit Dog

Oculoskeletal Dysplasia in the Northern Inuit Dog

Our experience with OSD3

I thought that now we have the test for this Mutation that it’s time to put my thoughts down and to let you know how we came about finding there was this problem in the breed.

In March 2012 we decided to put one of our home-bred girls (Sesi) to our New stud dog Mahlek Ochi. Sesi didn’t live with us she lived at Haquihanna but came back here to have her puppies.

Sesi’s pregnancy was quite normal and came to us the day before she had her puppies, she was very used to spending time here so the transition didn’t need to be long.

On 1st June she gave birth to 9 beautiful babies who apart from one had a very gold luster to them which I had never seen before, very striking pups. Poor Sesi was quite overwhelmed with her brood but was a very good 1st time mum.

The first we noticed that something was wrong or I should say something didn’t seem right with the pups was when their eyes started to open around about 13 days, 5 had lovely almond shape eyes, the others however had these big round pop out type of eyes, something I personally had never seen in puppies in this breed. However, all puppies seemed well, some seemed quite a bit smaller than the others which isn’t unusual with puppies, but what was strange was the smaller/shorter ones weighed more than the bigger pups. That week we really started to watch and monitor these puppies and by week 3 we could see that 4 puppies (2 girls and 2 boys) where noticeably different to the others, there legs were shorter and thicker, very heavy pups, very wormy and acted very different to the others, so a vet visit was made.

After being assured by the vets that pups seemed all ok, wormers were given and that they may just be developing different to the others.

We approached our breed committee (which we were part of at the time) about these pups to find out if anyone in the past had had pups like this before, the answer was obviously No and to just monitor them, which of course we were doing any way. We were also told to remember that the stud dog we used was a very different type to what we were used to using so may get stockier type pups, as admittedly he is stockier rather than tall and athletic.

As I was quite a google queen at the time, I spent days trawling through the internet, looking through old breeding websites and forums to see if anyone in other closer breeds to us had this problem, one of the pups that we had named ohso ( oh so cute ) acted like a down syndrome child almost, so I was quite amazed to find out that dogs can also have something similar, now I was convinced that this is what ohso had, and after my google marathon was convinced they all had chondrodysplasia as well which is why the limbs were like they were.

Again, I was told its far too early to tell and to wait and watch them grow as it just may be the way they are developing and will come right in the end…I wasn’t convinced, so decided to find special homes for the 4 pups explaining that I was uncertain about how they would turn out, but everyone else seemed to feel they were fine. We did however hang on to Ohso to see how he developed ourselves. By the time he was 12 weeks old you could really tell he was not going to look like a “normal” Northern inuit dog. We went to see our vet with our findings who agreed at the time that this boy looked like he was chryondodysplastic , that he basically had legs like a bull breed, but hopefully would lead a normal life but just not be to “Standard” which can happen I guess.

We had talks with our breed club all the way along, who came to the conclusion it was a one off and probably cause by the worms ????.

Not being one to just sit around for it to happen again I carried on googling and looking into things, talking to old time breeders and even the animal health trust and we came to the conclusion that obviously, we could never put those two dogs together again, but the only way to see if we had a problem was to do some “test mating’s” which is what we decided to do.

Late 2012 We put a full sister to Sesi (from a later mating) with the grand sire of the stud dog to see which lines we needed to eliminate. From this mating we had no issues at all in all 12 pups, if anything we had a litter of giants.

We then put the Stud dog who had produced the litter with Sesi to a bitch who had the same sire as her and again produced a litter of 11 normal pups, so now we were even thinking that maybe this was a one off.

In 2013 a new breeder in Scotland had a litter of puppies, where a few sadly passed away but one of the litter was noticeable different to the others, not as obvious in the limb area as my pups were but neither less he was very much like our “Little leg” pups as we had loving called them. Again, after communication with our breed committee, which we were still part of, we were informed that the bitch of this pup had detached retinas and therefore he was different to the rest!! The sire of this litter was the full litter brother to our stud boy. To this day I do not understand why this breeding was allowed to go ahead. At this time relations between us and our breed club were very strained and we were losing faith in their ethics, ( a lot more had happened concerning health in the breed that kept getting overlooked for want of a better word )

In 2014 we decided to do a line breeding with one of the pups from the 2012 litter who had all been normal if not very big to our stud dog, this is when the “little gems” litter where born.

Again, quite a normal pregnancy apart from mum bled all the way through and was being monitored regularly, she had 10 beautiful babies, one sadly sleeping, all seemed normal healthy puppies. By day four I knew we had a problem, 4 of the puppies looked slightly different to the others, I asked my husband to go and check the pups and see if he picked up on it, and I also did the same with my daughter, both heavily involved in raising our pups, and both came and said 4 of the pups looked like the others did. As you can imagine I was totally distraught and didn’t know what to do, again the vets said it was far too early to tell, but as a breeder who lives with their pups from the moment they are born and nurtures them until they leave you just know when something isn’t right. These puppies seemed even more extreme to the others, or maybe it was because we knew what we were looking at this time, I do remember them being very vocal with each other in the whelping box and the eyes on these seemed to be even more pronounced than the first litter.

By this time, we had had a re shuffle in our breed club (northern Inuit society) committee and had some people wanting to make a name for themselves but decided to do it at the expense of our good name. A name that we had spent over a decade building a 100% track record for ethical breeders. We were told that this was not a problem in the breed and it was something that we had produced, was man made by us, even insinuating that it was the way we brought our dog/pups up. Now as you can imagine after the years of loyalty I gave the club this was the biggest kick in the teeth I could ever have…..Me…I created this monster…I was distraught at the thought of this.

The next six months were horrendous, we found amazing loving homes for the puppies and didn’t have them put to sleep as we were told too, which I know our vets would not have done either. Our puppy owners were very vigilant with the pups and noted any change. One by one they had joint or eye problems and ended being referred to by their vets to the Animal Health Trust, who took a very keen interest in the cases, and with the help of our owners we were introduced to them, this is when we were able to ask them for some help. With all the research I had been doing into this myself, I had come to the conclusion that it was a form of Oculoskeletal Dysplasia rather than chondrodysplasia as it was also affecting the eyes of these dogs.

The Next month we were lucky enough to have some people in the animal health trust come down and do some tests on all of our dogs, most of our affected pups along with others that popped by, eyes were tested and photographed and saliva swabs were taken. We were doing this away from the breed club at this point as they were still not interested in helping us. A post was put out on social media asking for owners of Northern inuit dogs to come forward and swab test their dogs to help with the study, we sent out lots of swabs and took them along to shows with us in case we met some there, we also drove to County Durham and took swabs from a breeder’s dogs to help us with our investigation. We then found out that the committee had sent in a few swabs from selected dogs, most which were not closely related to ours. After chatting with the AHT people they agreed with me that it looked like some form of Oculoskeletal Dysplasia.

And so, the waiting began, we carried on looking into this ourselves, finding old websites about mortality rates of pups being born with this type of problem very high, which is maybe why this had not knowingly been noticed in the breed before.

In 2015 we were subjected to a bullying witch hunt on social media, started by a dog rescue group, who then joined forces with our breed club to try and condemn us as breeders, the vile hurtful things that were said will never leave me and I will never forget those who liked their posts and commented against us. All along saying we had created this problem in the breed by bad breeding practices, now those who know us know this is far from the truth, and those who are intelligent people will know it’s a genetic problem, but still slanderous things on social media do you no good at all. I just wish I was that clever as I would do a lot better than create stumpy dogs with bad eyes. Anyway, we got through all of this, we had halted some of our breeding and opted to use an out-cross stud to bring some new blood into our line.

Around spring-2017 I received an email from the people at the AHT who were working on our case to say they had found the mutation, and they could now prove that it was a genetic problem with in the breed, it was OSD and that they could and would clear my name as the creator. Sadly, we had to wait until September before they could release a test for us and all of the wolf a like breeds connected with the Northern inuit dog to use to test for OSD, but it was worth the wait.

The people at the AHT put on a Health day for the Northern Inuit dog in September 2017 to launch the test named OSD3, they had 3 speakers talking about the genetics side, how they found the gene and what we as breeders should be doing to prevent this from happening again, it was a wonderful talk. I was very apprehensive about attending as I knew I would be sitting in a room full of the people who had tried so hard to condemn my good breeding name, I needn’t have worried as they didn’t feel it necessary to turn up. Apart from 3 people the only people that turned up were Honiahaka owners, which sadly says a lot for a breed club I feel.

The main thing we got from the talk was how necessary it was to test all breeding dogs that have any Northern inuit heritage in it, and we feel breed clubs should have this as one of the mandatory tests, along with Hip, Elbows, eyes and DM testing.

Because of the work Honiahaka put into this we were lucky to have been given our results and have been able to plan our future breeding’s and move forward. There is no reason why this cannot be bred out in our lines within a few generations. We are still looking into the pedigrees of the founding dogs but are confidant we have found the line where it came from

The Animal Health Trust has cleared our names which for us is wonderful and has commended us for being conscientious breeders, only time will tell if other clubs and breeders apologise for what they put us through.

Below is an article written by our good friend Lindsey on the findings of OSD3 in the Northern Inuit dog.

What is Oculoskeletal Dysplasia?

Oculoskeletal Dysplasia is a disease characterised by skeletal deformity and ocular abnormalities. Until recently, only two examples of genetic mutation had been reported in the Labrador Retriever and the Samoyed, however, after extensive genetic research undertaken by the Animal Health Trust, the OSD3 mutation has been discovered in the Northern Inuit Dog.

As of September 2017 there have been three known, documented litters of Northern Inuits containing puppies affected with Oculoskeletal Dysplasia. Signs of abnormality can be detected from early puppy hood. Affected puppies are noted to have significant shortening of the limbs when compared to their unaffected litter mates and show dyplastic bone growth as they age, resulting in the legs and paws to bow outwards. Affected puppies also go on to develop eye problems resulting in cataracts and blindness and often appear to have abnormally large and protruding eyes from a young age.

Skeletal deformities include luxation/subluxation of the joints (hips, elbows, wrists) causing abnormal angulation of limbs.

Ocular abnormalities include cataracts, retinal detachment, visible hyaloid artery remnants, hyper-pigmentation and luxation of the lens. Gonioscopies on affected puppies have shown signs of Goniodysgenesis in some cases. These abnormalities are known to deteriorate over time and in some cases can cause total blindness.

How is Oculoskeletal Dysplasia Inherited in the Northern Inuit Dog?

Research has shown that Oculoskeletal Dysplasia is an autosomal recessive mutation. To be affected by OSD, a dog must inherit one copy of the mutated gene from each parent, therefore holding two copies of the mutated gene. The OSD mutation is fully penetrant, so a dog with two copies of the mutated gene will show clinical signs of Oculoskeletal Dysplasia, however, dogs with only one copy of the mutated gene (carriers) will show no clinical signs.

Estimates arising from the study undertaken by the Animal Health Trust suggest that 15% of Northern Inuits are carriers of Oculoskeletal Dysplasia, and that 0.6% of Northern Inuits carry two copies of the mutated gene and are affected with Oculoskeletal Dysplasia. These figures are based on results from those dogs submitted to the AHT for the purpose of the study and as many dogs were related to the affected dogs the figures may not represent the true statistics within the breed.

Most affected puppies are from one breeder, are they the cause of this disease?

Definitely not! The Animal Health Trust’s research suggests that the Oculoskeletal Dysplasia mutation arose very early in the development of the breed as is not limited to one line. Multiple lines have tested positive for carriers of the OSD3 mutation and whilst one kennel has been unfortunate to produce most of the affected puppies to date, this mutation is not confined to one line of dogs.

I want to breed my Northern Inuit / Utonagan / Tamaskan / Wolfalike, what should I do?

Due to the fact that the Oculoskeletal Dysplasia mutation is believed to have arisen early in the development of the Northern Inuit, it may also be present in other wolfalike breeds whose heritage contains Northern Inuit. It is advisable that any dog with Northern Inuit heritage be tested for the OSD3 mutation before breeding. Guidance from the Animal Health Trust with regards to the presence of the OSD3 mutation in other Wolfalike breeds may change when more dogs have been tested.

Although it is easy to see the clinical signs in affected dogs, carriers show no clinical symptoms and cannot be detected in any other way than through testing.

A DNA test is available directly from the AHT in the form of a buccal swab kit which will be sent to you in the post. Puppies can be tested once they are weaned (4 weeks+). Once you send your samples back to the AHT you should receive your results within 2 weeks.

Sadly the AHT is no longer going to now you can obtain your DNA kits from Laboklin which takes a bit longer than the AHT did.

If your dog is tested clear then the second parent need not be tested. If your dog is tested as a carrier then you MUST ensure that the second parent is tested clear, otherwise you run the risk of producing affected puppies. A carrier should NEVER be mated to another carrier, however, carriers need not be removed from the gene pool for a number of generations (because the genetic diversity in the Wolfalike breeds is so small it would be deleterious to the breeds to remove carriers from the breeding pool).

I want to purchase a Northern Inuit puppy, what should I be looking for?

If you are looking to add a Northern Inuit or wolfalike breed which derived from the Northern inuit dog originally to your family please be aware that at present many breed societies are not making this test compulsory for their dogs! When approaching breeders make sure you ask whether the parents have been tested for OSD3 – a good breeder will be happy to show you certificates!

If the parents are untested and you still wish to purchase a puppy it would be adviseable to insist that the breeder test the puppies for the OSD3 mutation before placing a deposit.

Where does your information come from?

Information contained within this page was accumulated from data given by the AHT at their Northern Inuit Health Day, taken from their website, datasheets and presentation. If you wish to find out more about Oculoskeletal Dysplasia or the work undertaken by the Animal Health Trust please check out their website.