Potential genetic defect in Shorthorn cattle

[knabe]

Personally I would rather work with the defect bulls rather than a bull that was great but had terrible udders or didn't milk or broke behind their shoulders  Lot less problems.

 

[sue]

Here is another picture of a Shortie calf with the distal limb defect -you can see the deformity even though the calf is bandaged

The abnormality in the x ray above (a'sj calf) is officially described by a veterinary radiologist as "congenital malformation of the distal cannon bone with subluxation of the Cannon-P1"  - that is the scientific description of what I described

Ok . The bandaged legs did not cur e this calf .. right? I realize some of the nip and tuck deal goes on with navels and briskets in the high steer and hfr deal... but did this calf get better when the bandages came off?

 

[sue]

In theory.......I repeat in theory.....if the old improver bull was a problem.....I wonder. The goofy back legs would be deformed along with the tha deformed back legs. This would be confusing as reports from the country came in. Could this defect been seen before and been confused with the th defect. Again this is a theory. Improver may be clean.

Hey thank you for posting tha t picture.  You didnt have to "go public" I am learning from this so thank you.

 

[DL]

Here is another picture of a Shortie calf with the distal limb defect -you can see the deformity even though the calf is bandaged

The abnormality in the x ray above (a'sj calf) is officially described by a veterinary radiologist as "congenital malformation of the distal cannon bone with subluxation of the Cannon-P1"  - that is the scientific description of what I described

Ok . The bandaged legs did not cur e this calf .. right? I realize some of the nip and tuck deal goes on with navels and briskets in the high steer and hfr deal... but did this calf get better when the bandages came off?

Like many instances when a calf is born with an abnormality we all look for the cause (food,, water, infection) etc - many calves with contracted tendons will improve with splinting - when a leg looks funny we "hope" it is contracted tendons and that it will get better if it is splinted. Iwould love to have had an xray of the calf -if you look at the leg and then look at aj's xrays you can imagine how severe the subluxation would have to be to get the limb to look like that.

The calf was born in 2010  and there was no official word that this could be an issue so many people just thought they were cursed, zapped by the phase of the moon, etc - imagine how far ahead we would be if the association had alerted members when cases were first seen -- anyhow NO - the splints did not make a darn bit of difference

sue if you can develop a bandage to cure genetic defects you might get the nobel prize 

This picture (despite the bandages) is pretty classic of the abnormality.

Interestingly I heard from a University today that had 3 cases similar to aj's with xrays - but again without any word from the association to look for hind limb abnormalities those cases moved on (awkwardly I assume) without benefit of samples, pictures or pedigree

aj - I think it would be difficult to confuse TH with this abnormality - esp since the TH calves have the huge abdominal hernia - I do hownever think it would be easy in more subtle cases to not pick up that this was a "real" issue esp since it seems to improve with time - Improver - hmm could be maybe not - time will tell but isn't it interesting how most of the recent defects can be traced back to some of the old "greats"

 

[sue]

bandage option is "veal"  developed awhile back... not sure I can patent, just hope the price/lb goes up?

 

[knabe]

I'd be curious to know what percentage of any individuals can withstand line reeding and be defect free.  Add in phenotype defets and the number would be alarmingly high.  That's why I wish I was 20 to take advantage of the looming genetic analysis.  Hopefully we won't throw away all the great ones right when we will shortly have the tools and costs lowered to use the great ones defects or not and eliminate the defects instead of the great ones. 

 

[aj]

How does the spastic paresis deal work? Does it take both parents to be carriers? If.....if the distal limb deal takes two to tango. You could have an actual defect calf that intheory could breed cows natuarally or by semen. This would be different than th where the defect calves never matured to breed cows. I know people on here have joked they wished they could semen out of an actual th defect calf cause he would be twice as likely to sire a th carrier(for the th look). There was really no variaion of th defective was there? Always a hernia....always the calf can't stand?

 

[justintime]

How does the spastic paresis deal work? Does it take both parents to be carriers? If.....if the distal limb deal takes two to tango. You could have an actual defect calf that intheory could breed cows natuarally or by semen. This would be different than th where the defect calves never matured to breed cows. I know people on here have joked they wished they could semen out of an actual th defect calf cause he would be twice as likely to sire a th carrier(for the th look). There was really no variaion of th defective was there? Always a hernia....always the calf can't stand?

aj... I had 6 TH calves from the first 10 born from a bull I had bred to my heifers.These 6 were born right at the start of our calving , so we were concerned of what was going to happen when we got into calving the main cow herd.  This was prior o my hearing anything about TH and these calves had my vets and the vet lab baffled at the time. They were suspicious it may have been caused by environmental factors as all our pastures had air monitors as part of a 5 year study on the affects of oil production on cattle operations.  The bull that sired these calves was an Improver grandson I had purchased from Mantua in Wyoming. He was a very good bull and I bred him to a set of Improver grand daughters and great grand daughters... and we got 6 TH calves in the first 10 heifers that calved.

These calves were basically all the same... back legs short and twisted together.... all had a large abdominal hernia.... hair was short and quite curly..... protuding eyes and short noses..... and each and every one was very much alive and tried and tried to get up on their feet.  I will never forget these calves bawling and trying to stand up. Of the 6 calves we had the only differences between them I saw was that two of them had a hole in their forehead ( incomplete formation of their skulls I am thinking) and each time they took a breath their brain would push out through these holes. So, I'm thinking that these TH calves are basically all the same. In all 6 of my cases, their back legs were completely twisted together

 

[frostback]

If I had one it did not have a hernia. Its hair was normal. It was not a bull or hiefer, no testicles and only a anus. It did have a hole on its head also but not as severe as yours JIT. Its back legs were not normal but not severely twisted either. It was alive but we never tried to get it up and put it down asap when I saw its head.

 

[KSUwildcat2009]

In theory.......I repeat in theory.....if the old improver bull was a problem.....I wonder. The goofy back legs would be deformed along with the tha deformed back legs. This would be confusing as reports from the country came in. Could this defect been seen before and been confused with the th defect. Again this is a theory. Improver may be clean.

I think that this involving back legs is just a coincidence.  There are a lot of things that are involved in limb formation, thus a lot of chances for things to go wrong.

If I had one it did not have a hernia. Its hair was normal. It was not a bull or hiefer, no testicles and only a anus. It did have a hole on its head also but not as severe as yours JIT. Its back legs were not normal but not severely twisted either. It was alive but we never tried to get it up and put it down asap when I saw its head.

My guess is something else was going on because TH calves ALL have abdominal hernias.  justintime's description is the classical TH calf, showing all symptoms that were seen.

 

[DL]

to go back in time TH is a constellation of abnormalities including large abdominal hernia, twisted legs and meningocele +/_ absence of testes, Mullerian duct etc without the big 3 you don't have TH, and of course they are hairy


The Tibial hemimelia syndrome was first described in 1951 in Scotland in the Galloway breed of cattle. This lethal condition is characterized by multiple congenital skeletal deformities, most notably shortened or absent tibia, abdominal hernia, cryptorchidism, failed Mu¨llerian duct development, hirsutism, and improper neural tube closure, resulting in meningocele. Calves are born dead or die shortly after birth. The Scottish Galloway Association used test breeding and pregnancy termination to identify carriers and eliminate the autosomal recessive defect from Galloway breeding stock [63]. The syndrome was first described in the USA in 1974, and subsequently in a case report of a female Simmental calf with arthrogryposis, ventral abdominal hernia, tibial hemimelia and the nonunion of Mullerian ducts, with the suggestion that it might be a genetic disorder. A decade later, TH was identified in six genetically related registered Shorthorn calves, three from the USA, and three from Canada. Although the skeletal abnormalities varied, the combination of tibial hemimelia, abdominal hernia and meningocele was felt to be strikingly similar to the condition previously described and determined to be inherited asan autosomal recessive trait in Galloway cattle. Pedigree analysis of the Shorthorn calves suggested that homozygozity of an autosomal recessive allele was responsible for the defect. It is interesting that the phenotype of the heterozygote (straight hind limbs and long shaggy hair coat) was considered desirable in the show ring and frequent use of popular sires lead to excessive inbreeding and increased allele frequency due to selective pressure. The occurrence of affected calves was increasingly noted after 2000. Dr. Chuck Hannon and Shorthorn breeders in the mid-west cooperated to provide tissue samples and pedigree information to Dr. Jon Beever and Brandy Marron, ultimately resulting in identification of thedefective gene mutation. The mutation was traced to the Irish bull Deerpark Improver (ASA # 3,684,142; born 1972), one of a few direct imports to North America. Improver was used extensively in the U.S. in the 1970s, as there are 635 direct progeny registered with the American Shorthorn Association.

The defective gene has been shown to be aristaless-like homeobox 4 (ALX4), a major regulator of hind limb formation. The Improver deletion removes approximately one-third of the ALX4 gene, including the upstream regulatory sequence and involves approximately 46,000 base pairs. After identification of the Improver deletion, it was noted that although the parentage of some TH calves was DNA-verified, some parents did not test positive for the Improver deletion. Additional studies revealed that the bull TKA Outcast (ASA # 4,046,304; born 2001) possessed a larger deletion of 450,000 base pairs that overlapped the Improver deletion, and removed four genes, including ALX4. The Outcast deletion is rare and affected calves sired by Outcast were ‘‘compoundheterozygotes’’ (heterozygous with the Improver mutation on one chromosome and the Outcast mutation on the other). Although ‘‘heterozygous’’, these calves were affected like those homozygous for the Improver deletion. The frequency of the Outcast mutation is so low, and the magnitude of the deletion so much larger, that it is unlikely that there have been any TH calves homozygous for the Outcast deletion. Because samples from the Scottish Galloway cattle are unavailable for testing, it is unclear whether the Improver or Outcast deletions in Shorthorns originated from the Galloway breed or are different mutations.

The popularity of the TH phenotype has led to extensive use of carrier bulls in the club calf and show cattle arena. A substantial number of cattle registered with the Shorthorn, Maine Anjou, Chianina breed Associations, as well as crossbred or composite cattle, are known to carry the defective gene. In 2004, more than half of the top 10 sires for a number of Shorthorn registrations were putative carriers. In 2005, 21 of 24 black composite AI sires offered by a single vendor were verified as carriers.

In a 2007 sire directory of popular ‘‘club calf sires’’, one-third of bulls were TH carriers, including clones and sons of a popular TH carrier bull. Of the 10 most popular Shorthorn AI sires for 2006 calves, three were carriers for both TH and PHA and one was a carrier of TH (Shorthorn Country, April 2007).

from Whitlock B, Kaiser L, Maxwell HS: Heritable bovine fetal abnormalities Theriogenology  70: 535-549, 2008.

 

[DL]

and a few more

 

[NHR]

DL, those photos bring back very bad days. Had too many of those born here. Almost drove me out of the Shorthorn business...

 

[kfacres]

The good thing about TH...  is that if there is ever a screw up- wrong semen, false test result, innaccurate anything... the cow will not die....

now in the case of PHA-- that's a different story, and much poorer chances for the dam....  That's where really scares the hlell out of me....

 

[DL]

DL, those photos bring back very bad days. Had too many of those born here. Almost drove me out of the Shorthorn business...

Yeah NHR - those were tough times for lots of people, and very stressful and heartbreaking. Not only having the dead deformed calves but also with breeding season approaching - who to use? Is he a TH or PHA carrier? What about my cows? are they carriers? Interestingly I still get calls/emails about TH and PHA affected calves...

aj - Spastic paresis is a neuromuscular contractural disorder, originally called "Elso heel" after the first reported cases which were all in descendents of the Holstein bull Elso II. The genetics or inheritance of spastic paresis has not yet been determined, although there is thought that it is recessive with incomplete penetrance - like fawn calf and this distal hind limb deformity is Shorthorn calves the phenotypic expression is variable. Spastic paresis affects multiple breeds including Holstein, Hereford, Murray Gray, Angus, as well as Shorthorn Maine, Chi etc etc  - and therefore we don't know if the mutation(s) in one breed are the same as in another breed.  Again we need samples, and it would be wonderful to have a bunch of samples from the same breed -

Based on what we know about spastic paresis and this distal hind limb abnormality I don't think they are related. SP appears to involve the nerves and muscles  while the distal hind limb abnormality appears to be a bone/joint abnormality - time will tell how it all plays out

 

[knabe]

could you not start with cunia and black gold?  though obviously there are no direct samples, they generated the original nazi walkers. gold dust would be a good one to have.  i don't have any of that, though i should.

probably some people have black gold left.  i do, but i'm going to save it for two cows, hopefully 3, and will reserve some genotyping,even though i've been told he's chi in him and he's very navely.

 

[DL]

could you not start with cunia and black gold?  though obviously there are no direct samples, they generated the original nazi walkers. gold dust would be a good one to have.  i don't have any of that, though i should.

probably some people have black gold left.  i do, but i'm going to save it for two cows, hopefully 3, and will reserve some genotyping,even though i've been told he's chi in him and he's very navely.

long time ago I found some black Gold - he is PHA clean and the DNA is saved

 

[sue]

Let's review:  You can submit a sample without a Breed Association knowing ? Right. . later the  info is released ... upon your agreement??

 

[DL]

Let's review:   You can submit a sample without a Breed Association knowing ? Right. . later the  info is released ... upon your agreement??

anyone (yes anyone including Tom, Dick and Hairy) can submit a sample to Dr B (review the post about how to do it - please - if it is an ongoing investigation the DNA will be extracted and likely the 50 K SNP CHIP run - if it is something like (for example) spastic paresis where there have been lots of reports but very few samples submitted the DNA will be extracted and sample stored.

What you need however is some sort of documentation of the issue - in the case of the Shortie hind limb abnormality a picture (or multiple pictures) xrays would be nice too and actually the legs from affected calves would be a bonus; other cases with obvious phenotypic abnormalities - hydrocephalus, spina bifida etc a picture is good;  in other instances  a video, a necropsy report, a copy of your vets report etc - to identify a mutation you have to have a pathologic diagnosis - or to put it differently if you don't know what you are dealing with pathologically (anatomically) then there is no reason to hunt for a mutation

so anyone can submit a sample - pictures are good, pedigree is good, samples from sire and dam are good too - it is always better to have more samples than less samples - if you need more info pm or email me

 

[knabe]

Let's review:   You can submit a sample without a Breed Association knowing ? Right. . later the  info is released ... upon your agreement??

and so begins the definition of a rumor.

no defect, no matter how obscure or old, is a rumor and mere members or interested parties should not be encouraged to ask questions.

this whole rumor paranoia thing is just like at work. its actually counterproductive.

people should default to submitting samples, asking questions, but the opposite seems to be true.