Inherited Conditions

[Alyosha]

Thanks for the poodle link sandgrubber - very interesting indeed.

Not sure on the mast cell tumour one Maeby. Could be a really good thing to get a study done on. Look for a vet seeking a PHD subject perhaps? Even some of the testing services may be interested. If they can get enough samples they might be able to find genetic markers for it.

I think the deaf thing could also be a combination. Less culling, and more market for pretty colours (especially in Koolies). More market always results in more indiscriminate breeding, or breeding solely for colour... Which is particularly bad in merles...

[Guest Maeby Fünke]

Not sure on the mast cell tumour one Maeby. Could be a really good thing to get a study done on. Look for a vet seeking a PHD subject perhaps? Even some of the testing services may be interested. If they can get enough samples they might be able to find genetic markers for it.

Thanks, that's a good idea. I've been meaning to write to someone about it, I just wasn't sure who would be the best person.

[Alyosha]

You could try Sydney and Melbourne Universities, they both have big vet schools.

[Guest Maeby Fünke]

You could try Sydney and Melbourne Universities, they both have big vet schools.

Okay, thanks :)

[Agility Dogs]

http://en-epilepsybc.weebly.com/

Epilepsy is a major issue in some of the more well known ISDS lines of the border collie. Some top level competitors seem willing to take the risk that their pup won't have it, despite knowing there are instances of it in a particular line of dogs.

There is a growing movement dedicated to publicising the problem and encouraging people to breed away from it.

ETA - this is more a UK and increasingly US problem. The condition does not seem as prevalent in our Aussie dogs or the lines we have in Australia.

Edited September 24, 2013 by Agility Dogs

[~Anne~]

Not sure on the mast cell tumour one Maeby. Could be a really good thing to get a study done on. Look for a vet seeking a PHD subject perhaps? Even some of the testing services may be interested. If they can get enough samples they might be able to find genetic markers for it.

Thanks, that's a good idea. I've been meaning to write to someone about it, I just wasn't sure who would be the best person.

It would be interesting to also see a study on pugs and deafness. Early onset deafness is incredibly common in pugs.

Alyosha, can I suggest looking to see if you can find any papers written by Alexandra Horowitz. She is a cognitive scientist and she touches on genetics and genomes in a book I am reading of hers. There may be more she has written.

[Mystiqview]

Exercise induced collapse seems to be on the rise within some BC Lines. I had a dog about 10 years ago with the condition. I was told then "it's not in Bcs" when in fact it was showing up in Bcs in Canada in particular as they were also studying the condition in Labradors.

I had a pup years ago which I put down at 4 weeks. When the eyes first opened, there was certainly an issue with one eye. At first I thought it may have been the third eyelid not opening properly. Secondly the pup had to be revived at birth as it was not breathing. Once he was walking, he was tottering around and listing to one side. I first attribute this to the eyes and just starting to walk.when it became worse, I suspected brain issues as he could have been starved of oxygen at birth and suffered brain damage. When they did a PM in him, the vet found the eye was deformed. It was not until some weeks later when I was talking to the owner/breeder of the grand sire that they said " oh, XYZ had produced that before". It is always amazing what you find out AFTER an issue crops up. If you knew of some of the issues, you may not have done the mating. Just after that litter of mine, a friend who had a sister or half sister with the same grand sire, had the same thi except all eyes of the pups did not open.

We are finding more skin/immune disorders showing up - again in certain lines where people have doubled up on certain dogs. Whether they have ignored the advice from those who know or have not research enough their lines. I don't know. I certainly know some have ignored advice from breeders with the same lines who say "don't double up" on XYZ. Personally think some is ignored as a fad colour is involved.

There are still many in the breed who will not hip and elbow score or eye test. One reason is because "it's not a breed requirement". Some will not DNA test although not many. Others will only use clear DNA dogs but still not hip/elbow score, eye test or BAER test - particularly if there is deafness or excess white in the line thus increasing the chance of hearing issues.

Personally I think breeders should do all the tests available to them, even if they are not a breed requirement. At least then you have a starting point and a knowledge of what is there now. If something crops up in the future, there is a record that there was a problem in such generation. It may be linked, it may not be.. At least knowing gives a starting point.

I think many newbies are not doing their research. I know it is hard for some breeders to be forth coming with admitting issues.... Some are and that should be commended and encouraged. At least get to know the good, bad and ugly of the issues in your line/breed.

I also think any certified health testing that becomes available should then become mandatory and the results printed on pedigree certificates. Not to name and shame breeders, but to allow for better breeding and an openness to the good (and not so good) genetic traits of certain animals. Every dog will have both and good traits, and I don't advocate flushing the water with the baby, but at least this would allow an informed decision making process and a fair judge of the risks.

[Tassie]

... At least then you have a starting point and a knowledge of what is there now. If something crops up in the future, there is a record that there was a problem in such generation. It may be linked, it may not be.. At least knowing gives a starting point. ....

The mature eye exam/gonioscopy (ACES exam) in BCs is an example of this sort of test to contribute to a database. According to the opthalmologist who did my boy, the angles revealed by this are not an absolute predictor of glaucoma, but may be - and in any case, as it's not a hugely expensive test anyway, it's worth doing, IMO to add to the store of knowledge.

We are lucky in BCs that the mode of inheritance of CEA, CL and TNS is simple autosomal recessive, so we can DBA test and be confident what we're dealing with, and retain a wider gene pool. Proud to say that blood from my CEA affected girlie (from before the availability of the test) contributed to the late Dr Alan Wilton's amazing work to identify those genes.

[german_shep_fan]

This is a question mostly for breeders, but as some experienced folk aren't in the Breeders Forum I thought I would put it here.

I'm writing a short article on genetic conditions generally and their implications within pure breeds. I'm hoping to find some simple examples I can include (without naming names or breeds necessarily) of what has occurred as a result of people ignoring genetic conditions within breeds. So examples where it may have suddenly spiralled out of control, had an unforeseen dramatic effect, resulted in big impact on the breed population, cost a bundle for breeders, etc etc.

Am happy for PMs if people are more comfortable.

So any examples springing to mind? Bearing in mind that I am seeking stories of broader breed-based implications rather than individual stories of problems or heartache. I'd love to include those but it has to stay brief and focussed.

Not sure if this is useful to you or not issue was a fair while ago and was not deliberately ignored but thought I would post links to info in case it was :)

http://workingdogs.com/doc0155.htm

http://www.gsdinfo.co.uk/Health/Hemophilia.htm

Edited September 24, 2013 by german_shep_fan

[BlackJaq]

Exercise induced collapse seems to be on the rise within some BC Lines. I had a dog about 10 years ago with the condition. I was told then "it's not in Bcs" when in fact it was showing up in Bcs in Canada in particular as they were also studying the condition in Labradors.

I had a pup years ago which I put down at 4 weeks. When the eyes first opened, there was certainly an issue with one eye. At first I thought it may have been the third eyelid not opening properly. Secondly the pup had to be revived at birth as it was not breathing. Once he was walking, he was tottering around and listing to one side. I first attribute this to the eyes and just starting to walk.when it became worse, I suspected brain issues as he could have been starved of oxygen at birth and suffered brain damage. When they did a PM in him, the vet found the eye was deformed. It was not until some weeks later when I was talking to the owner/breeder of the grand sire that they said " oh, XYZ had produced that before". It is always amazing what you find out AFTER an issue crops up. If you knew of some of the issues, you may not have done the mating. Just after that litter of mine, a friend who had a sister or half sister with the same grand sire, had the same thi except all eyes of the pups did not open.

We are finding more skin/immune disorders showing up - again in certain lines where people have doubled up on certain dogs. Whether they have ignored the advice from those who know or have not research enough their lines. I don't know. I certainly know some have ignored advice from breeders with the same lines who say "don't double up" on XYZ. Personally think some is ignored as a fad colour is involved.

There are still many in the breed who will not hip and elbow score or eye test. One reason is because "it's not a breed requirement". Some will not DNA test although not many. Others will only use clear DNA dogs but still not hip/elbow score, eye test or BAER test - particularly if there is deafness or excess white in the line thus increasing the chance of hearing issues.

Personally I think breeders should do all the tests available to them, even if they are not a breed requirement. At least then you have a starting point and a knowledge of what is there now. If something crops up in the future, there is a record that there was a problem in such generation. It may be linked, it may not be.. At least knowing gives a starting point.

I think many newbies are not doing their research. I know it is hard for some breeders to be forth coming with admitting issues.... Some are and that should be commended and encouraged. At least get to know the good, bad and ugly of the issues in your line/breed.

I also think any certified health testing that becomes available should then become mandatory and the results printed on pedigree certificates. Not to name and shame breeders, but to allow for better breeding and an openness to the good (and not so good) genetic traits of certain animals. Every dog will have both and good traits, and I don't advocate flushing the water with the baby, but at least this would allow an informed decision making process and a fair judge of the risks.

Great Post!

Sometimes I wonder if breeders are not rightfully reluctant to disclose all the intimate issues that their dogs may or my not have to everyone, particularly pet puppy buyers. Don't get me wrong, I don't want puppy buyers to be oblivious of breed health issues and such but chances are that if you say "oh, x, y nd z have occasionally cropped up in my lines and we are working on eliminating them because there is no test yet" or some such, somebody less knowledgeable could easily take this to mean that your dogs are not as healthy as breeder Z's who they spoke to the other day, who mentioned nothing like that at all, even when that person may have the same, similar, or worse issues.

It seems many puppy buyers already expect a lifetime warranty for pedigree pups despite the fact that they are still living things and as such, things can go wrong. Many don't seem to get the concept of reg. breeders testing for things that can be tested for and still not being able to always avoid all issues (like things that there is no test for yet or even things that the puppy buyer themselves may cause due to bad rearing practices). When things go wrong with pedigree puppies the puppy owner is often up in arms over pedigree dogs in general, whereas if they get a mutt off buy, swap and sell and it has issues it's barely ever spoken about and they just try again with another puppy?

[SkySoaringMagpie]

Sometimes I wonder if breeders are not rightfully reluctant to disclose all the intimate issues that their dogs may or my not have to everyone, particularly pet puppy buyers. Don't get me wrong, I don't want puppy buyers to be oblivious of breed health issues and such but chances are that if you say "oh, x, y nd z have occasionally cropped up in my lines and we are working on eliminating them because there is no test yet" or some such, somebody less knowledgeable could easily take this to mean that your dogs are not as healthy as breeder Z's who they spoke to the other day, who mentioned nothing like that at all, even when that person may have the same, similar, or worse issues.

It seems many puppy buyers already expect a lifetime warranty for pedigree pups despite the fact that they are still living things and as such, things can go wrong. Many don't seem to get the concept of reg. breeders testing for things that can be tested for and still not being able to always avoid all issues (like things that there is no test for yet or even things that the puppy buyer themselves may cause due to bad rearing practices). When things go wrong with pedigree puppies the puppy owner is often up in arms over pedigree dogs in general, whereas if they get a mutt off buy, swap and sell and it has issues it's barely ever spoken about and they just try again with another puppy?

That's certainly part of it. I think other issues are:

- Unnecessarily worrying conscientious companion puppy buyers who are not ever going to breed the dog and who may have a practice building vet who will suggest a whole range of worrying and unnecessary tests. Having been that puppy buyer myself 8 years ago and paying an absolute fortune (over $5K including meds) for what turned out to be an ordinary and harmless low grade heart murmur, I can see why breeders would err on the side of caution. In some ways the money wasn't the worst part, it was the huge emotional stress of it, seriously thinking my dog was going to be dead within 12 months.

- Witch hunting by the breeder's competitors, especially of the "never mind the log in my eye, let's pick on the splinter in yours" kind. A minority of people are quite happy to play politics with health issues, even if the dog is a companion who has never been used or shown. Not every person or every breed is like this, but where you have even one or two people using dogs as political footballs it ensures everyone stays quiet. I think this is worse now that breed groups on FB mean that everyone has a much better look at everyone else's dogs and business. I have seen a few innocent puppy buyers say things on FB groups that I know will have people chattering behind their hands. The other tricky thing for the puppy buyer is that people like that can appear to a novice as if they are just concerned about health in the breed, when in fact health isn't the reason for their interventions at all. So the breeder keeps their cards close to their chest.

That said, I think as soon as someone goes to use a dog, or they buy a dog with the specific intention of incorporating it in their breeding program, then situations like Mistiqview's just shouldn't arise. If someone is going to breed on with something, then it's very important that they have good information and micropthalmia is one of those things that should be on the table. I can't imagine how heartbreaking it would be to get a whole litter with no eyes and know that someone knew about the possibility and said nothing.

I am grateful to people who have been the "bigger" person in my breed and been completely frank with me about what they know when I have made inquiries. Those people are the glue that holds a breed together and I don't repeat what they tell me because they've always been frank about it in the context of a serious discussion about using a line. And I feel the same way, if someone asks me to disclose everything I know just to satisfy their curiosity they can forget it. But where people have serious intentions to use the lines, then I tell what I know because it is very frustrating to have the whole "oh yeah, that has popped up before" discussion after the mating is done and the pups are on the ground.

[Trisven13]

Sometimes I wonder if breeders are not rightfully reluctant to disclose all the intimate issues that their dogs may or my not have to everyone, particularly pet puppy buyers. Don't get me wrong, I don't want puppy buyers to be oblivious of breed health issues and such but chances are that if you say "oh, x, y nd z have occasionally cropped up in my lines and we are working on eliminating them because there is no test yet" or some such, somebody less knowledgeable could easily take this to mean that your dogs are not as healthy as breeder Z's who they spoke to the other day, who mentioned nothing like that at all, even when that person may have the same, similar, or worse issues.

It seems many puppy buyers already expect a lifetime warranty for pedigree pups despite the fact that they are still living things and as such, things can go wrong. Many don't seem to get the concept of reg. breeders testing for things that can be tested for and still not being able to always avoid all issues (like things that there is no test for yet or even things that the puppy buyer themselves may cause due to bad rearing practices). When things go wrong with pedigree puppies the puppy owner is often up in arms over pedigree dogs in general, whereas if they get a mutt off buy, swap and sell and it has issues it's barely ever spoken about and they just try again with another puppy?

That's certainly part of it. I think other issues are:

- Unnecessarily worrying conscientious companion puppy buyers who are not ever going to breed the dog and who may have a practice building vet who will suggest a whole range of worrying and unnecessary tests. Having been that puppy buyer myself 8 years ago and paying an absolute fortune (over $5K including meds) for what turned out to be an ordinary and harmless low grade heart murmur, I can see why breeders would err on the side of caution. In some ways the money wasn't the worst part, it was the huge emotional stress of it, seriously thinking my dog was going to be dead within 12 months.

- Witch hunting by the breeder's competitors, especially of the "never mind the log in my eye, let's pick on the splinter in yours" kind. A minority of people are quite happy to play politics with health issues, even if the dog is a companion who has never been used or shown. Not every person or every breed is like this, but where you have even one or two people using dogs as political footballs it ensures everyone stays quiet. I think this is worse now that breed groups on FB mean that everyone has a much better look at everyone else's dogs and business. I have seen a few innocent puppy buyers say things on FB groups that I know will have people chattering behind their hands. The other tricky thing for the puppy buyer is that people like that can appear to a novice as if they are just concerned about health in the breed, when in fact health isn't the reason for their interventions at all. So the breeder keeps their cards close to their chest.

That said, I think as soon as someone goes to use a dog, or they buy a dog with the specific intention of incorporating it in their breeding program, then situations like Mistiqview's just shouldn't arise. If someone is going to breed on with something, then it's very important that they have good information and micropthalmia is one of those things that should be on the table. I can't imagine how heartbreaking it would be to get a whole litter with no eyes and know that someone knew about the possibility and said nothing.

I am grateful to people who have been the "bigger" person in my breed and been completely frank with me about what they know when I have made inquiries. Those people are the glue that holds a breed together and I don't repeat what they tell me because they've always been frank about it in the context of a serious discussion about using a line. And I feel the same way, if someone asks me to disclose everything I know just to satisfy their curiosity they can forget it. But where people have serious intentions to use the lines, then I tell what I know because it is very frustrating to have the whole "oh yeah, that has popped up before" discussion after the mating is done and the pups are on the ground.

Yep you have covered it all I reckon.

[sandgrubber]

Many inherited conditions aren't widely recognized as such.

I suspect genetic skin conditions and allergies are widely ignored by breeders. These can be a result of homozygosity in the DLA ...essentially outcomes of excessive line- or inbreeding... and will be hard to breed out if your breeding program is heavily focused on type and you value uniformity.

I know a lot of breeders ignore inability to free whelp (eg, as in 95% of Bostons, a high fraction in bulldogs and pugs), and I know a breeder who had multiple litters from a gorgeous bitch who was extremely aggressive toward her puppies and would have killed them all if they weren't taken away from her at birth. (They muzzled her and strapped her down for nursing . . . horrid scene).

Propensity to bloat gets ignored because the mode of inheritance is unclear and it is easy to dismiss the possibility that it may be hereditary. Often, too, it is late onset.

Some inherited conditions may be ignored because they seem relatively benign.

I can't find the article, but I remember reading a vet journal article on epilepsy in Danish Labradors. They did a huge survey of registered dog owners and found around 3% of all dogs had epilepsy. Mostly it was focal seizures; full seizures were in the minority. Late onset (6 yrs or more) was common.

I can understand why a breeder might overlook focal seizures and such a condition might persist in a population.

1. The mode of heredity is not clear.

2. The breeding occurred before the onset of the disease

3. People hear the word 'epilepsy' and they immediately think of full grand mal seizures. A focal seizure in which the dog remains standing, but merely goes into a spaced out, blank stare for a minute is relatively benign (eg, as compared to a food allergy or a propensity to bloat), especially if it occurs less often than once a month.

4. It's easy to hide. How are you to know that the stud dog you've decided to use has had a number of mild seizures? much less, that his sire or dam had the condition.

[cali]

Exercise induced collapse seems to be on the rise within some BC Lines. I had a dog about 10 years ago with the condition. I was told then "it's not in Bcs" when in fact it was showing up in Bcs in Canada in particular as they were also studying the condition in Labradors.

I had a pup years ago which I put down at 4 weeks. When the eyes first opened, there was certainly an issue with one eye. At first I thought it may have been the third eyelid not opening properly. Secondly the pup had to be revived at birth as it was not breathing. Once he was walking, he was tottering around and listing to one side. I first attribute this to the eyes and just starting to walk.when it became worse, I suspected brain issues as he could have been starved of oxygen at birth and suffered brain damage. When they did a PM in him, the vet found the eye was deformed. It was not until some weeks later when I was talking to the owner/breeder of the grand sire that they said " oh, XYZ had produced that before". It is always amazing what you find out AFTER an issue crops up. If you knew of some of the issues, you may not have done the mating. Just after that litter of mine, a friend who had a sister or half sister with the same grand sire, had the same thi except all eyes of the pups did not open.

We are finding more skin/immune disorders showing up - again in certain lines where people have doubled up on certain dogs. Whether they have ignored the advice from those who know or have not research enough their lines. I don't know. I certainly know some have ignored advice from breeders with the same lines who say "don't double up" on XYZ. Personally think some is ignored as a fad colour is involved.

There are still many in the breed who will not hip and elbow score or eye test. One reason is because "it's not a breed requirement". Some will not DNA test although not many. Others will only use clear DNA dogs but still not hip/elbow score, eye test or BAER test - particularly if there is deafness or excess white in the line thus increasing the chance of hearing issues.

Personally I think breeders should do all the tests available to them, even if they are not a breed requirement. At least then you have a starting point and a knowledge of what is there now. If something crops up in the future, there is a record that there was a problem in such generation. It may be linked, it may not be.. At least knowing gives a starting point.

I think many newbies are not doing their research. I know it is hard for some breeders to be forth coming with admitting issues.... Some are and that should be commended and encouraged. At least get to know the good, bad and ugly of the issues in your line/breed.

I also think any certified health testing that becomes available should then become mandatory and the results printed on pedigree certificates. Not to name and shame breeders, but to allow for better breeding and an openness to the good (and not so good) genetic traits of certain animals. Every dog will have both and good traits, and I don't advocate flushing the water with the baby, but at least this would allow an informed decision making process and a fair judge of the risks.

you may know already but their is actually ongoing research into EIC in BCs right now (known as BCC or border collie collapse) its been an ongoing study for a good year now. TBH I had never even heard of it until I saw the plea for samples for the study on the US working border collie club site lol

[Mystiqview]

Hi Cali,

Yes I am aware of the research and have known about it for some time. I was asked if I had any dogs which could have contributed to the study. I have moved away from that line and so had no affected dogs that could have contributed blood samples. The bitch that had the condition was never bred.

The bitch I had with the condition was going on 10 years ago and there was no test - the only reason I knew what it was due to the fact a friend with a working border collie had the condition. When my bitch started showing signs, I knew what it was. She was put to sleep about 5 years ago with massive cancer in her abdomen.

There are those who will still ignore the condition in the lines and breed from affected animals. This may not be so bad in the future once they get the test, however I believe that until there is a test - same principle as we once used with CL - do not breed from affected animals. Some breeders may not know about it as it is often misdiagnosed.

[Janba]

What about the dalmatian gene mutation that makes them unable to metabolise purines and ;lead to uric acid bladder stones and gout? It is not a modern example but shows the outcome of breeding with affected and carrier dogs as there is now not a purebred dalmatian worldwide who is not homozygous for the mutation. The only exceptions are the back cross dalmatians where a pointer was introduced in the 70s to reintroduce the normal gene.

http://www.luadalmatians.com/

http://www.sciencedaily.com/releases/2008/11/081107071818.htm

Edited September 24, 2013 by Janba

[ness]

Hi Cali,

I am also grateful to the likes of Mystiqview for alerting me to the possible existence of BCC in the breed. I have contributed my affected girls blood to the research so hopefully in the future nobody else will suffer a similar situation as while its seemingly not life threatening as such its very frightening. I think part of the problem is conditions in the breed for which you don't hear about until you have a dog with the condition. I am sure there are more affected dogs out there who aren't showing the signs because they don't have all the other factors or may not be in situations were they are likely to.

[mixeduppup]

How about CA in kelpies? Heaps of working breeders ignore it and breed affected dogs or dogs that carry the gene.

[Steph M]

Propensity to bloat gets ignored because the mode of inheritance is unclear and it is easy to dismiss the possibility that it may be hereditary. Often, too, it is late onset.

I do wonder though how you might test for this, as an owner of a very bloaty breed I can't imagine any way other than record keeping, and as with ED or HD it sounds to me like a lot of environmental, external influence. (food fed, when, how soon after exercise, water intake and when etc etc) It's a horrifying thing and I wish there were a really simple way to tell!

[dancinbcs]

... At least then you have a starting point and a knowledge of what is there now. If something crops up in the future, there is a record that there was a problem in such generation. It may be linked, it may not be.. At least knowing gives a starting point. ....

The mature eye exam/gonioscopy (ACES exam) in BCs is an example of this sort of test to contribute to a database. According to the opthalmologist who did my boy, the angles revealed by this are not an absolute predictor of glaucoma, but may be - and in any case, as it's not a hugely expensive test anyway, it's worth doing, IMO to add to the store of knowledge.

We are lucky in BCs that the mode of inheritance of CEA, CL and TNS is simple autosomal recessive, so we can DBA test and be confident what we're dealing with, and retain a wider gene pool. Proud to say that blood from my CEA affected girlie (from before the availability of the test) contributed to the late Dr Alan Wilton's amazing work to identify those genes.

What did you pay for the adult eye test? Last time I enquired a few years ago it was about $170 for a full Aces eye exam and gonioscopy combined and they would not do the gonioscopy on it's own. I am not at all convinced that the gonioscopy is really of any use in predicting glaucoma and neither are our ACES vets as they have not issued a recommendation for it as a screening test. The database of test results is growing all the time but there are still only 8 cases of glaucoma reported and 5 of them are share the same sire or grandsire. Despite the prediction by one just opthalmologist that dogs who fail the gonioscopy are much more likely to develop glaucoma, the numbers are not supporting that theory at all but the database does look like it will be useful to disprove the theory.