2011, Appaloosa Stallion, ApHC 654416 - 7 Panel NN
Genetic Testing...The list is growing!
As the breeding season is about to begin and breeding choices are made, the subject of 5 Panel testing is also brought into the discussion and the equation. At this point, the "5 Panel" test has become obsolete. We have included 10 Genetic Disorders that may affect your decision. Each Panel referred to should be referenced with the disorders tested for.
We are not including these identified Genetic Disorders to pass judgement or change your opinion. We are just making you aware of what is out there. Some of these dominant disorders can be managed. Some are more manageable than others. Knowing the chances of results and your own research is required to make your best decision.
We won't claim to be experts in any of these breeding and genetic testing decisions. Sometimes knowing both tests on the stallion and the mare, your decision will help you confidently roll the dice. We do have over 50 years of breeding decisions behind us. We made every decision with a lot of thought and expectations. We did not have any of these tests in the beginning. We did have the experience of working with the breeders before us that had noted which AQHA bloodlines would light up an Appaloosa pattern. At that time, you needed to see color from 15 ft. They knew how to feed and manage "Monday Morning Disease", more commonly known today, as PSSM1. We have come a long way... even now, you think you have the perfect combination...."they" find another genetic marker to toss into the mix.
There are several Labs that you can choose to order tests. Some are faster. Some are cheaper. Some do more tests in the genetic testing groups to choose from. One even has the test for the Sprint or Distance gene which determines the type of muscle you can expect. All in all it is fun to see those results but the main health tests we are aware of are the ten listed below. We are waiting for results on the newest test, EJSCA, otherwise, Stolen Identity is 9 Panel NN..
Everybody has an opinion. So rather than give you ours, I have provided links to UC Davis to learn about each one of these. They have bundled tests that are priced competitively with the other testing labs.
When you go to the full articles on the UC Davis site you can also find the directions for testing.
Of course, if you want my honest opinion or experiences, just give me a call.
It started with the original 5 Panel test...
HYPP
HYPP Hyperkalemic Periodic Paralysis is an inherited disorder of the muscles primarily found in Quarter Horses and related Stock Horse Breeds.
HYPP is characterized by sporadic attacks of muscle tremors (shaking or trembling), weakness, and/or collapse. Attacks can also be accompanied by loud breathing noises resulting from paralysis of the muscles of the upper airway. Occasionally, sudden death can occur following a severe paralytic attack, presumably from heart failure or respiratory muscle paralysis. Manifestation of clinical signs of HYPP depends on many factors including stress, diet, and changes in exercise. Some horses may manifest severe signs of the disease while others exhibit little or no signs. •HYPP is inherited as an autosomal dominant trait
HERDA
HERDA Hereditary Equine Regional Dermal Asthenia is an inherited skin condition primarily found in Quarter Horses and Related Breeds.
Hereditary equine regional dermal asthenia (HERDA) is an inherited skin disordercharacterized by hyperextensible skin, scarring, and severe lesions along the back of affected horses. Affected foals rarely show symptoms at birth. The condition typically occurs by the age of two, most notably when the horse is first being broke to saddle. There is no cure, and the majority of diagnosed horses are euthanized because they are unable to be ridden and are inappropriate for future breeding. •HERDA is inherited as an autosomal recessive trait
GBED
GBED Glycogen Branching Enzyme Deficiency is a fatal genetic disorder that is found in Quarter Horses and Related Breeds.
GBED is a fatal disorder where affected animals may be aborted or stillborn, and foals that survive to term typically die or are euthanized by 18 weeks due to severe muscle weakness. GBED affected horses lack glycogen branching enzyme, the enzyme necessary to properly make the branched sugar storage molecules known as glycogen. Therefore, affected horses cannot properly store sugar and tissues that rely on glycogen for energy are impaired. This disease is fatal as the brain, heart muscle, and skeletal muscles become weak and are unable to function. •GBED is inherited as an autosomal recessive trait
PSSM1
PSSM Type 1 Polysaccharide Storage Myopathy is a glycogen storage disease that results in the accumulation of abnormal complex sugars in muscle cells, which can lead to muscle pain, weakness, and reluctance to move is a muscle disorder in Quarter Horses, related Breeds including warmbloods and drafts. See a more inclusive list in the complete article.
PSSM1 is a muscle disorder that results in two distinct clinical disease presentations. The first presentation is called immune-mediated myositis or IMM and it is characterized by episodes of severe muscle atrophy following an autoimmune event. The second is severe muscle pain and damage termed non-exertional rhabdomyolysis or “tying-up” that is not associated with exercise and may or may not have muscle atrophy. •PSSM1 is inherited as an autosomal dominant trait
MH
MH Malignant Hyperthermia is an inherited disorder in Quarter Horses and Related Breeds in which affected horses can be triggered to induce a hyper-metabolic state.
MH is an inherited disorder in which affected horses can be triggered by halogenated anesthetics, succinylcholine, stress, or excitement, which can induce a hyper-metabolic state characterized by symptoms including muscle contracture, elevated temperature, and an irregular heart rhythm. MH can cause a life-threatening condition in susceptible horses. •MH is inherited as an autosomal dominant trait
HYHM
MYHM Formerly known as IMM, Myosin-heavy chain myopathy is a muscle disease in Quarter Horses and Related Breeds
MYHM is a muscle disorder that results in two distinct clinical disease presentations. The first presentation is called immune-mediated myositis or IMM and it is characterized by episodes of severe muscle atrophy following an autoimmune event. The second is severe muscle pain and damage termed non-exertional rhabdomyolysis or “tying-up” that is not associated with exercise and may or may not have muscle atrophy. •Autosomal Codominant with variable penetrance
EJSCA
EJSCA Equine Juvenile Spinocerebellar Ataxia is an inherited neurologic disorder that causes ataxia in American Quarter Horses and Related Breeds.
EJSCA, a new neurologic disorder of American Quarter Horse (QH) foals was identified in 2020. affected foals develop ataxia, or incoordination, between 1 and 4 weeks of age. The disorder progresses within a few days until affected foals are unable to stand without assistance. The disease is inherited as an autosomal recessive trait. A scientific paper describing this gene and genetic mutation is currently in progress. The complete article will be will be updated when the publication becomes available. •EJSCA is inherited as an Autosomal Recessive trait
CSNB
CSNB Congenital Stationary Night Blindness is genetic disorder that results from two copies of the LP (leopard complex gene), characterized by a variable amount of white in the coat with or without pigmented spots.
CSNB is found in horses homozygous for leopard complex (LP/LP). They will produce 100% LP color pattern, but they will be born with CSNB, or the inability to see in low-light conditions. These horses are also at increased risk for equine recurrent uveitis (ERU). Testing for leopard complex/appaloosa spotting can help breeders, owners, and clinicians identify homozygous animals (animals with 2 copies of the variant). Horses homozygous for the LP variant will always produce offspring with leopard complex spotting patterns. •CSNB is inherited as an Autosomal Recessive trait
LWO
LWO Lethal White Overo is a genetic disorder that results from two copies of the version of the gene causing the frame overo coat color pattern.
LWO is a genetic disorder that results from two copies of the version of the gene causing the frame overo coat color pattern. Foals with the condition are characterized by a completely white coat as well as intestinal tract abnormalities that result in death soon after birth. The frame overo pattern itself is characterized by a white spotting pattern in which pigment is said to "frame" the horse. •LWO is inherited as an Autosomal Recessive trait
MCOA
MCOA Multiple Congenital Ocular Anomalies is associated with an inherited ocular syndrome from the Silver Dilution, (Z/Z). This Ocular disorder is found in the Quarter Horsed and Related Breeds with the silver dilution. It does not have to be homozygous to be affected.
MCOA is related to the Silver gene which is a coat color dilution found in various breeds that dilutes black/brown pigment. On a black base coat color, silver will dilute the mane and tail to a flaxen or silver gray and will dilute the coat to a chocolate color that may be accompanied by dappling. •MCOA is inherited as an autosomal dominant trait
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Autosomal Dominant means one mutated gene passed to the foal will affect the outcome.
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Autosomal Recessive means the mutated gene will not present any problems. Each parent can appear normal yet carry one mutated gene with no adverse effects .... unless they each pass the mutated gene to the foal which can produce a devastating outcome.
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Automosal Codominant means two different genes in combination will determine the strength of the adverse effects.
