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Dwarfism in the Miniature Horse

 


November 2007 "Ask the expert" Special Q and A Webinar with John Eberth
sponsored and provided exclusively by Lil Beginnings about the genetics of Dwarfism in the Miniature Horse.
Credentials (as of Nov. 2007) as follows: B.A. in Biology, minor in biochemistry currently working on his M.S. and PhD in Equine Genetics (concurrently) at the University of Kentucky Maxwell H. Gluck Equine Research Center
Owner of Arion Management Inc.
Licensed AMHA judge and currently working on his AMHR and ASPC cards

Please click here to read our archived transcript of this historic online event.

 

2013 Masters Thesis by John E. Eberth
Chondrodysplasia-Like Dwarfism in the Miniature Horse
University of Kentucky https://uknowledge.uky.edu/gluck_etds/11/
Dwarfism is considered one of the most recognized congenital defects of animals and humans and can be hereditary or sporadic in cause and expression. There are two general morphologic categories within this vastly diverse disease. These categories are disproportionate and proportionate dwarfism and within each of these there are numerous phenotypes which have been extensively described in humans, and to a lesser extent in dogs, cattle, mice, chickens, and other domestic species. Ponies and Miniature horses largely differ from full size horses only by their stature...
Copy and paste the link above or download and read a copy of Johns thesis HERE
Thank you so much John!

November 2013 The ASPC/AMHR Board of Directors voted at Convention that once available, members would be able to record Dwarf test results on their horse's registration papers.
Having the results recorded will incur a registration paper update fee just like adding color test results (which AMHR will also do).

** Miniature Horse dwarfism Testing is Now Available!  April 10th 2014
This is one of the most historic days for the Miniature Horse World!! Thank you John for your tireless work.

ACAN Dwarfism Mutations in the Miniature Horse

Four mutations in the ACAN gene have been found in Miniature Horses associated with a dwarf phenotype by John Eberth, MS, working in the lab of Dr. Ernie Bailey at the Gluck Center. It is important to test breeding stock for these mutations because at least one of these mutations is lethal in combination with any of the other mutations causing early pregnancy loss. Care must also be taken in breeding two horses together that are carriers for Dwarf mutations, as the presence of two mutations in any combination will lead to early abortion or live foals with a range of physical ailments associated with the dwarf phenotype. Some of these physical ailments seriously affect the health of the horse and include breathing problems, malformed mouths which lead to eating difficulties, and abnormal bone growth leading to chronic soundness issues.

Horses carrying only one of the mutations are normal in appearance, exhibiting the desired stature and proportions the Miniature Horse should possess.  There are four identified mutations, designated D1, D2, D3 and D4. The normal copy of the gene is designated as N.

The following table summarizes the effects of the various mutation combinations:

Normal Mini Horse phenotypes dwarf phenotypes dwarfism lethal phenotypes

Examples of Normal Phenotypes
Example of a normal Minaiture Horse Normal Miniature Horse

 

Examples of Dwarf Phenotypes
D2/D2 Dwarf Mini Horse D2/D3 Dwarf Mini Horse  https://lilbeginnings.com/miniature-horse-facts-and-information/D2D4-Dwarf.jpgD2/D4 Dwarf Mini HorseD1/D1 Aborted Dwarf Mini Horse

The genotypes D3/D3 and D4/D4 have unknown effects, as no samples with these genotypes have been found so far.

D1 and D2 were the most common mutations found in the pilot study.  Since D1 is lethal in combination with any of the other mutations, it is recommended that D1 carriers (N/D1) only be bred to horses that do not carry any other Dwarf mutation.

To test your horse click here to fill out, download, and print the following:
Dwarfism mutation submission form and sample collection.


Credits:
Gluck Equine Research Center
Genetic Testing at Gluck

Dr. Kathryn Graves
Director, Genetic Testing at Gluck
1400 Nicholasville Rd.
Lexington, KY 40546-0099
859-218-1165

 

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