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Splash white paper!

TheRedHayflinger April 12, 2012 April 12, 2012

Forums

http://www.plosgenetics.org/article/info:doi/10.1371/journal.pgen.10026…

rodeoratdogs Thu, 04/12/2012 - 20:33

Wow that is super interesting, is PAX3~SW2? Ok I see it is now, but then MITF is the "location" of SW1, SW3 + Macchiato?

Threnody Thu, 04/12/2012 - 21:08

I'm wondering the same thing, but my head is swimming trying to take it all in. These multiple loci are making the SW1-3 abbreviations bother me more.

That macchiatto is crazy since it dilutes the hair the eyes and causes a white pattern. Wish there was a name given for him and a pic of his parents!

rodeoratdogs Thu, 04/12/2012 - 21:12

I think I have read it 4 times and It's starting to finally sink in :BH ! That is a lot of information. I want to share it too, but I can get the link to work??

Threnody Thu, 04/12/2012 - 21:30

[i]"Although we do not have functional proof for all of the mutations, we obtained sufficient ancillary evidence to claim their causality. For the PAX3C70Y allele the arguments are that it (1) occurs only in horses with the splashed white phenotype, (2) the PAX3 locus was linked to this phenotype in a family, (3) mutations within the PAX3 gene cause similar phenotypes in humans and mice, and (4) the mutation affects a highly conserved cysteine residue in the paired domain, that is predicted to participate in DNA binding. We were able to determine that this variant arose in 1987 and to identify the specific founder animal."[/i]

So SW2 began in 1987. That's the same year Colonel's Smokin Gun's dam Katie Gun was born. Guess it must be her since CSG is a known SW2 carrying horse.

http://www.allbreedpedigree.com/katie+g…

rodeoratdogs Fri, 04/13/2012 - 08:29

I was wondering about that, that is super interesting. About the time I sent my sample in to UC Davis to test Annie for SW I was discussing my theory that Katie gun carried the SW mutation with one of the researcher's (at Animal genetics) because she has several foals with a lot of face white from several different stallions, but of course I had no idea she had started the whole SW2 mutation..... here is the part of the email I'm discussing Katie Kun with him. I wanted to share my thoughts with him because he didn't seem as interested in testing Annie after he learned she had brown eye's and wasn't deaf.

I also wanted to share with you Gunner's Dam, who I suspect to be the Sw2 carrier, she is considered a solid QH...Katie Gun

http://www.allbreedpedigree.com/katie+g… this is her pedigree but if you scroll across the little square at the top you will see her pic..

She is the dam of Gunner... pictures are also on the top of the pedigree's for each of these horses....

http://www.allbreedpedigree.com/colonel…

She is also the dam of these siblings of Gunner's all by different stallions

Duns gotta gun..

http://www.allbreedpedigree.com/dun+got…

...and Spooks gotta gun http://www.allbreedpedigree.com/spooks+…

You can see by looking at their pictures they all seem to get the Sw2 mutation from their Dam. I don't know if they are all Deaf.

I don't expect my mare to have the Sw2 mutation, but I would be surprised if she does not come back with 1 copy of the Sw1 mutation. I have already seen a picture of one horse that came back positive for the Sw1 mutation that had very little white and brown eyes.

tjuri Fri, 04/13/2012 - 17:59

If Katie Gun was the source, why do her grand-sire ONE GUN and great-grand-sire MR. GUN SMOKE show splash markings too? A different mutation? :-?

TheRedHayflinger Fri, 04/13/2012 - 19:10

for some reason..the heterozygous SW3 picture in this paper--reminds me of a ton of Barlink horses I've seen.

rodeoratdogs Fri, 04/13/2012 - 19:25

Annie is Barlink bred and she came back SW1, I'm still waiting to see more results of Barlink horses. I just talked to Kay Simmelink a few weeks ago (Barklink Macho man's breeder) she also bred Annie's Dam and she said they liked to use A LOT of Leo they really concentrated on Leo bloodlines. If you look at MR GUN SMOKE is Leo bred. Kay is a nice lady she loves to chat and she actually answers the phone when you call.
Anyway seems Leo was responsible for a lot of white patterns IMO.

Daylene Alford Sat, 04/14/2012 - 10:07

Wow I'm behind.... :oops: I've downloaded the PDF I'll print it out and give it a good read through.

Third Peppermint Sat, 04/14/2012 - 10:18

Maybe Mr. Gun Smoke has a different, unidentified mutation of splash and Katie's Gun was a random mutation of the same gene that is SW2 as we know it?

TheRedHayflinger Mon, 04/16/2012 - 13:10

I was thrilled when I found Horse D....I'll be over the moon when horse E is revealed. I've been digging through piles of pictures looking for him/her. LOL

I will love you forever if anyone finds out horse E...or even F..but I think E would be easier to find..ahaha

rodeoratdogs Tue, 04/17/2012 - 16:20

I think you might be right, I noticed their website said that animal genetics was studying her hmmmmmm, they must of liked her better than Annie ymwhisle lol. Anyway I don't see and Barlink but I sure see some LEO. Please correct me if I'm wrong but is this a common denominator here that matter's or does it not?

TheRedHayflinger Tue, 04/17/2012 - 16:34

I'd still like to see some of those barlinks tested that have that similar look. There was another family of horses I seen that had a similar look to them as well...but now I can't remember. I didn't recall seeing anywhere in the paper if they pinpointed down when/where SW3 started like they did with SW2...I haven't had a real chance to really look at pedigrees and see if there were same lines further back or not yet.

rodeoratdogs Tue, 04/17/2012 - 18:19

[quote=admin]Wow I'm behind.... :oops: I've downloaded the PDF I'll print it out and give it a good read through.[/quote]

I was wondering where you were LOL! :grin: My Leo bred mare that I had was 75% white and most of her babies she had were almost all white, the one I had tested had frame. Mia was out of a Tobiano sire although I have never seen a picture of him to see if he may have had another pattern. Her Dam was a QH that had Leo and Wiescamp bloodlines both known to produce cropout paints.

http://www.allbreedpedigree.com/mia+thi…
http://www.allbreedpedigree.com/justana…
http://www.allbreedpedigree.com/rodeo+l…
http://www.allbreedpedigree.com/itsjust…

Threnody Tue, 04/17/2012 - 18:41

Again, yay you found them! I'm wondering where it came from and who is the likely founder. The paper said it was a very recent mutation, but unlike SW1 and SW2 where they described origins, seems like SW3 was not mentioned for when it likely started.

TheRedHayflinger Tue, 04/17/2012 - 19:07

Her sire has quite the same look about him... I haven't looked much into pedigree yet. I'm just so happy my hours of looking paid off. And I must have passed that page with Exceptionalwhitegirl a zillion times! I kept going back to it and today I decided to look for more pics of her dam. Glad I did!!

Threnody Tue, 04/17/2012 - 20:46

I'm glad you did! I'm also glad the one image shows that flank 'swish' up the side. When I saw that it more than sealed the deal that this had to be her.

TheRedHayflinger Tue, 04/17/2012 - 20:59

That's the one that did it for me. Blasted three quarter shots are everywhere. I needed full side!! Haha

rodeoratdogs Tue, 04/17/2012 - 21:28

Yeah I REALLY want to see more result's for Barlink horses as well....

Ok so E is this horse...SW3
http://www.allbreedpedigree.com/miss+t+…

who I noticed had some similar bloodlines with this horse...

http://www.allbreedpedigree.com/two+sha… ....he is negative LWO and I know he is Splash but I emailed her a while back and asked if she had tested him yet and she said no. He was bred to Annie's Dam and they had this filly...

http://www.allbreedpedigree.com/shamele…

Threnody Tue, 04/17/2012 - 21:32

[quote=TheRedHayflinger]That's the one that did it for me. Blasted three quarter shots are everywhere. I needed full side!! Haha[/quote]
I know! 3/4 and head on, or the wrong side. I wish I kept track of all her doppelgangers that popped up!

Rodeo, I do hope they test! I'm wondering how far back SW3 goes and if we can trace it through owners who do decide to get the test done for their horses.

rodeoratdogs Tue, 04/17/2012 - 21:43

That filly Shamelessly lnked is negative LWO I meant to mention that. Hopefully she will, you would think everyone would sooner than later with the possibility of the lethal combinations.

Spotting Girl Wed, 04/18/2012 - 02:13

What do you think about the fact, that PAX3 and MITF Exon 5 are letal in a homozygous state? Is it really a good thing to breed with such mutations?
In my opinion, the MITF is far less severe, you see this as it is inherited over generations and in different breeds. If you would not breed on this special splashed pattern, the mutations would be self-limited, and disappear. It's also important to think about the deafness. I have the impression, that this is a huge handicap for an animal which is a flight animal.
But of course, for research it's a very interesting thing, it may also help to understand further genetical disorders in humans.

Spotting Girl Wed, 04/18/2012 - 05:13

http://www.warrenreining.com/sunny_spot…

Here a nice overview, which foal got which alleles from the parents :-) MITF Promoter, PAX3 AND EDNRB Frame Overo causes only color on the neck or even white horses.
The spectrum of the allele-distribution is fantastic!! As you can get quite "normal" foals onto totally white foals out of the same two parents!

I printed this horses before they offered the test in Davies, now I can write the results below step by step :-) go on testing your Quarters! :toast

RiddleMeThis Wed, 04/18/2012 - 06:42

[quote=Spotting Girl]What do you think about the fact, that PAX3 and MITF Exon 5 are letal in a homozygous state? Is it really a good thing to breed with such mutations?[/quote] They are embryonic lethal. Most times you wouldn't even know the mare had been pregnant when she would "lose" the foal. Its not like LWO/Frame.

[quote] I have the impression, that this is a huge handicap for an animal which is a flight animal.[/quote]
In the wild it would be. But as a domesticated animal living with humans it's not. 95% of the people who Ive talked to who have had deaf horses LOVED them. Many even said if they could make all their horses deaf they would. They are apparently much less reactive than normal horses.

[quote] MITF Promoter, PAX3 AND EDNRB Frame Overo causes only color on the neck or even white horses.[/quote] Can you explain what you mean by this?