Genetics the good the bad and the ugly...

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jaimiediamond

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So I have been careening around on google and I thought I would add some defects!  I have hugely referenced the Canadian Angus Association 

DW. There are several types of dwarfism in the Angus breed. Dwarf calves are typically born with very short legs and a stout fat body. http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1614663/?page=1

Arthrogryposis Multiplex (AM) This is a lethal defect caused by a recessive gene. Affected calves have a bent and twisted spine. The calves are small and very thin due to limited muscle development. Their legs are often rigid and may be hyper-extended. In some cases, this causes calving difficulties.  You can see a article posted by Okotoks above regarding AM.

Neuropathic Hydrocephalous (NH) NH is a recessively inherited defect that causes excess fluid retention in the brain.The calves are born near term and have 25–35 pound birth weights. The cranium is markedly enlarged (volleyball to basketball sized). The bones of the skull are malformed. The cranial cavity is filled with fluid and no recognizable brain tissue is evident. The spinal canal is also dilated.


Osteopetrosis (OS) Affected calves of this lethal, recessively inherited defect are typically born premature and dead. The affected calves have a severely compacted jaw and brittle bones.

 
Syndactyly (SN) – Mule Foot Toes of the hoof are fused together in affected animals. This can range from one affected hoof to all four. This defect is not lethal
 

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mooch

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Which one of you optimists went ahead and tagged the curly calf?
 

aj

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I could never understand how longhorn calves...calved so easy.....with those big ole horns and everything. I do think that the calves in the source verified program are born with the tags in their ears. ;D
 

Titangirl

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vet tech said:
Whats Rattail? i guess its a char thing?

We have it with some of our simmy,  They aren't the prettiest thing if your looking for showcattle, usually the ones that have them are from old school simmy lines that we try to make black :p  We always referred to it as a diluent gene.  It only affects the hair coat and we have a couple in our cowherd that are awesome cows and they will throw mostly black calves.

Ive attached a picture of one of these cows with her black steer calf.  Of course they are purebred simmy, and believe me he is black it's just that brown tint simmies get as calves.  Sorry it's not any better of a picture
 

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Show Heifer

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If you go to the "Hall of fame" section, DL started two very good post on genetic defects.... had many contributors and has good information. The video of the PHA calf is very educational.
 

Okotoks

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Show Heifer said:
If you go to the "Hall of fame" section, DL started two very good post on genetic defects.... had many contributors and has good information. The video of the PHA calf is very educational.
DL
State Champion Poster


View Profile Email Personal Message (Offline)   Genetic defects
« on: April 13, 2009, 10:55:51 AM » Reply with quote  

--------------------------------------------------------------------------------
Here is one of DL's posts with the a list at that time .

What follows is a list of genetic defects and the breeds known to be affected. These mutations have been identified over the past 10 plus years by scientists around the world. Researchers were able to identify these mutations because breeders, breed associations, veterinarians, and extension stepped up to the plate and provided samples and pedigrees.

Back in the days of the Hereford dwarf or the Galloway TH or the Dexter dwarf - carriers were identified by test mating and sometimes abortion and necropsy. Today we have the tools and the researchers to identify mutations in a much faster way with far fewer samples than we needed even back in the TH and PHA days. Knowing the human and mouse and bovine and swine and dog genome provides information about where mutations are located in other species making it easier to hunt mutations in other species.

Now you can play ostrich and stick your head in the sand and use the age old SSS or you can be proactive and supply samples and pedigree from defective calves. But being an ostrich won't prevent scientific progress or the identification of defects....on the horizon the MB mutation in black Angus, FCS, "itty bitty", spastic paresis...


Tibial Hemimelia – Shorthorn (2 mutations), Galloway (unknown mutation)

Pulmonary Hypoplasia with Anasarca – Maine-Anjou, Dexter (different mutations) – one report in Hereford

Idiopathic Epilepsy - Hereford

Dwarf, Long-Nosed – Angus

Dwarf, bulldog – Dexter

Dwarf, chondrodysplastic – Japanese Brown

Double Muscling – many breeds

Bovine Leukocyte Adhesion Defect – Holstein

Citrullinaemia – Holstein

Complex Vertebral Malformation - Holstein

Syndactaly (mule foot) – Holstein, Angus, Simmental (at least 2 mutations)

Protoporphyria – Limousin

Chediak-Higashi Syndrome – Japanese Black

Congenital Pseudomyotonia - Italian Chianina

Congenital Muscular Dystony, type 1 - Belgian Blue

Factor XI Deficiency – Holstein, Japanese Yellow (2 mutations)

“Hydro” – Angus (note hydrocephalus is caused by other things; 1 mutation identified to date)

Marble bone (osteopetrosis) – Red Angus (mutation identified); black Angus

Arthrogryposis multiples - Angus; similar defect identified in Charolais - mutation unknown


 

Okotoks

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Here's another article with a few more details. Note this is trying to get information out so as many breeders as possible will make informed breeding decisions. In the event carriers are used it is would hopefully be to obtain free descendants of the carrier. I know a breeder who flushed to a well known carrier in hopes of getting a TH free son. It all comes down to knowing the risks and being responsible. Many ways of going about it but knowledge is key. JMO.

http://beefmagazine.com/genetics/avoiding_worst_20100201/
Avoiding THE WORST
Feb 1, 2010 12:00 PM, BY JOE ROYBAL, EDITOR & WES ISHMAEL, CONTRIBUTING EDITOR

Modern technology and good old-fashioned management minimize the challenge of genetic abnormalities caused by recessive genes.

       
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The science and application of genetics has allowed animal breeders to make tremendous strides in production efficiency. Coupled with modern nutrition and management, U.S. beef producers today produce a beef tonnage equivalent to that of 30 years ago — but with 25 million fewer head of cattle.

There's no doubt that the industry's ability to identify outlier animals that defy genetic antagonisms and excel for a variety of traits has been a boon to the industry.

One downside, though, since true genetic curve benders are so few and far between, is that their magnified use can become a problem if it turns out they also drag some unwanted genetic baggage with them.

That's what rocked the beef industry a year ago when Arthrogryposis Multiplex (AM), a lethal genetic defect, was discovered in one of the Angus breed's most used and coveted bloodlines — GAR Precision 1680.

According to Precision 1680's performance record from the American Angus Association (AAA), nearly 10,000 direct sons and daughters are part of the breed's genetic evaluation. He was one of the first Angus sires to bend the curve and provide low birth weight but superior weaning and yearling growth.

Every breed, species and individual contains recessive genes that are seldom expressed and thus rarely known about. In the case of Precision 1680, inadvertent propagation was the catalyst. His genes were being multiplied and magnified because of his genetic merit, but no one knew he also carried the recessive gene for AM.

Also known as Curly Calf Syndrome, AM results in stillborn calves with bent and twisted spines.

Science offers options
In the old days of genetic defects like Snorter Dwarfsm, such a discovery would have been the death knell for an entire line of cattle and a major blow to the breed itself. In those days, the only way to manage such defects was to avoid them, period.

Many are familiar with coat color in Angus as an example of how the simple mode of genetic inheritance works; red is recessive and black is dominant. If a calf receives the gene for black from one or both parents, its coat color will be black. In order for the animal to be red, it must inherit the recessive gene (red), from both parents.

Though genetic defects inherited in this manner create challenges, especially for seedstock producers, new technology means these simple recessive genetic defects — which AM appears to be — can be managed without throwing away the bloodline.

In the case of AM, a genomic test that screens for the presence of the defective gene also means seedstock producers can still utilize the bloodline while avoiding the problem.

For commercial producers, the odds of mating a carrier bull to cows that are also carriers are extremely low.

Managing genetic defects
AAA breed officials took a proactive approach to AM. Rather than insist on testing and printing results for full disclosure, then letting breeders and the marketplace assign values, AAA moved to eliminate the problem more quickly by banning the registration of carrier animals in the future. For more on this issue, see “Dealing With Curly Calf” at http://beefmagazine.com/genetics/1201-curly-calf-issue/.

This model offers direction to other breeds that possess other genetic defects.

There are 21 genetic abnormalities under management by beef breed associations — conditions ranging from fawn calf syndrome to hypotrichosis to dwarfism in its various forms (see Table 1).

“For commercial producers, the trick to avoiding calves with lethal or performance-threatening abnormalities is never to mate a carrier bull to a carrier female,” Kent Andersen, then the executive vice president of the North American Limousin Foundation, said last spring. “The first and easiest line of defense is to use only bulls free of the relevant defect in a given population.

“Mutations that cause abnormalities always will be a reality of the livestock business,” he says. “Fortunately, with advances in genomics technology and thoughtful management by associations and breeders, we can mitigate the adverse effects substantially.”

Four options
During the 2009 Beef Improvement Federation meeting in Sacramento, CA last spring, Jonathon Beever, University of Illinois in Urbana-Champaign geneticist and one of the nation's top authorities on genetic defects in cattle, told producers of four options in dealing with a potential genetic defect carrier in a cowherd population. He said producers could:


•Ignore the issue and risk future problems.

•Completely eliminate the genetic source, which would be contrary to overall breed improvement

•Find outcross genetics to breed away from the gene pool with the defect. While this isn't a practical option for seedstock breeders, it would be for commercial operations, particularly if they produce a terminal cross.

•Accurately identify the carriers through genetic testing, and then manage the problem.


Beever called the latter point the most responsible choice, given the high accuracy and growing cost-effectiveness of genetic testing. Beever adds that how producers develop their response within the beef industry will also be influenced by their place in the production system, with seedstock breeders being particularly proactive. (See “The Lowdown On Genetic Defects” on page 24.)

About this table
This listing of genetic defects is exclusive and limited to diseases that are still of concern, reflecting genes that are still present in beef cattle populations, or were in the last 5-10 years. Specific breed listings may seem over-represented because of recent genetic discoveries and proactive steps in management.

It is imperative to understand the inheritance pattern regarding genetic defects. In a simple recessive mode of inheritance, it takes a Carrier x Carrier mating to have a calf with a genetic defect. Even in that mating, the resulting offspring will have a genetic defect 25% of the time.
— Alaina Mousel


Table 1. Genetic abnormalities under management by beef breed associations Genetic abnormality Primary breed(s) of incidence Lethal or nonlethal Mode of inheritance DNA test available? Management stage
Arthrogryposis Multiplex (AM, or “Curly Calf Syndrome”) Angus & derivatives Lethal Simple recessive Yes DNA testing underway
Beta (β)-Mannosidosis Salers Lethal Simple recessive Yes Effectively eradicated
Fawn Calf Syndrome (FCS) Angus & derivatives Nonlethal Simple recessive No Under investigation
Neuropathic hydrocephalus (NH) Angus & derivatives Lethal Simple recessive Yes DNA testing underway
Hypotrichosis (hairless calf) Hereford Nonlethal Simple recessive Yes DNA testing underway
Idiopathic epilepsy (IE) Hereford Nonlethal1 Simple recessive Yes DNA testing underway
Osteopetrosis (marble-bone disease) Angus & Red Angus derivatives Lethal Simple recessive Yes DNA testing underway2
Protoporphyria Limousin Nonlethal Simple recessive Yes Effectively eradicated
Pulmonary hypoplasia & anasarca (PHA) Maine-Anjou, Shorthorn & Dexter Lethal Simple recessive Yes DNA testing underway
Tibial hemimelia (TH) Shorthorn & derivatives Lethal Simple recessive Yes DNA testing underway
Double Muscling Multiple breeds Nonlethal Simple recessive Yes DNA testing underway
Syndactyly (Mule Foot) Angus, Simmental, Holstein Nonlethal Simple recessive No Under investigation
Dwarfism (snorter) Angus Nonlethal Simple recessive Yes 
Dwarfism (bulldog) Multiple breeds (non Dexter) Lethal Simple recessive No Under investigation
Dwarfism (bulldog) Dexter Lethal Simple recessive Yes DNA testing underway
Dwarfism (long headed) Angus Nonlethal Simple recessive Yes DNA testing underway
Heterochromia Irides (white eye) Angus Nonlethal Simple recessive No Carriers identified by affected offspring
Red color gene Multiple breeds C Simple recessive Yes Routine testing
Wild-type color gene Multiple breeds Nonlethal Variable Yes Routine testing
Dilution of coat color Hereford, Simmental, Gelbvieh Nonlethal Dominant Yes DNA testing underway
Alpha (α)-Mannosidosis Angus, Red Angus, Murray Grey, Gallaway Lethal Simple recessive Yes Test available
1The American Hereford Association lists Idiopathic epilepsy (IE) as a lethal genetic defect;
2A DNA test for Osteopetrosis is not available for Angus cattle, but the test available for Red Angus may work for Black Angus
Source: North American Limousin Foundation, Dr. David Steffan, Dr. Jon Beever


Vingnette
 

Okotoks

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TH in Galloway was effectively eliminated as were these two two defects in the Salers and Limousin. I realise some traits like TH have supposed phentype traits that some find desirable but couldn't "cattle breeders" select for that phenotype from the clean population. If it doesn't exist in clean cattle then you would think breeders would select awy from the phenotype. JMO
Beta (β)-Mannosidosis Salers Lethal Simple recessive Yes Effectively eradicated
Protoporphyria Limousin Nonlethal Simple recessive Yes Effectively eradicated
 

jaimiediamond

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I find it slightly (understatement) disheartening reading threads where a person would prefer to use a TH positive bull over his TH negative brother.  Honestly a lethal recessive should be a no brainer..... Unless it is of course a controlled situation...
 

Okotoks

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Arthrogryposis multiples - Angus; similar defect identified in Charolais - mutation unknown

 

SongBird1232

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I recently bred my charolais heifer to a TH carrier bull. I was wondering if she has a heifer, how much does it cost to get them tested to see if they are a carrier?
 

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