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Genetic Profile Test Results

Etalon diagnostics, November 21st, 2022

UC Davis, December 27th, 2022

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Summary

GBED n/n, HERDA n/n, HYPP n/n, MH n/n, PSSM1 n/n,

MYHM n/n (UC Davis)

Color: A/A, E/e, nd1/nd2, CR/n, W20/n

 

Temperament: Curious, Two Curiosity variants; horse may be more curious than vigilant.

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Gait: Neg for DMRT3 No DMRT3 variants; likely non-gaited (*variants for novel "gait" abilities are currently in research).

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Sprint: Two Sprint type variants; horse may accel at short distance, quick bursts of speed over endurance type activity.

Horse has not tested positive for any known disease variants on this panel.

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Buckskin

Bay (A, E) + Cream (CR). Buckskin is the combination of at least one Black (E), at least one Agouti/Bay (A) and one Cream (CR) variant. The Bay color will be diluted by the Cream causing Buckskin. The range of Buckskins include a very dark brown to a very light buttermilk golden color. The stark black 'points' are left undiluted. Buckskins are often confused with duns, which can have a similar coat color. However, buckskins lack the 'primitive' markings of the dun unless they also have the non-Dun

Primitive Markings variant (nd1). Buckskins will pass Cream to 50% of any offspring. They will also pass Black (E) and/or Agouti/Bay (A) to at least 50% of any offspring (depending if they are Ee, Aa, or EE, Aa, or EE, AA).

 

Dominant White 20 (W20) - W20/n

W20/n - One Dominant White 20 (W20) variant detected; may result in White markings. Horse has 50% chance of passing to any offspring.

 

Cream (CR) - CR/n

CR/n - One Cream (CR) variant detected. Cream is a partial dominant and may dilute base coat color (Buckskin, Palomino, Smoky Black, etc). Horse has 50% chance of passing to any offspring.

Coat Color

Agouti (A) - A/A ASIP Likely Affected

A/A - Two Dominant Agouti variants detected. Agouti (which causes "Bay" on black) restricts black pigment to the outer regions of the body, the legs, mane & tail, nose, ear tips causing the otherwise black horse to appear "Bay". Agouti is invisible on the red based coat.

 

Black (E) - E/e MC1R Black Based

E/e - One Black variant and one Red variant detected.

Modifiers

Grey (G) - n/n STX17A Negative

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Brindle (BR1) - n/n MBTPS2BR1 Negative

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non-Dun Primitive Markings (nd) - nd1/nd2 TBX3 Possibly Affected

nd1/nd2 - One non-Dun Primitive Markings variant detected. Non-Dun Primitive Markings can appear as a dorsal stripe, leg barring, shadows on the face and shoulders even in the absence of the Dun variant.

Dilutes

Cream (CR) - CR/n SLC45A2 Likely Affected

CR/n - One Cream variant may dilute the base coat color to appear lighter resulting in a Palomino, Buckskin or other lightened coat color.

 

Champagne (CH) - n/n SLC36A1 Negative

 

Silver (Z) - n/n PMEL17 Negative

 

Pearl (PRL) - n/n SLC45A2 Negative

 

Dun (D) - n/n TBX3 Negative

Whites

Dominant White 20 (W20) - W20/n KIT Possibly Affected

W20/n - One Dominant White 20 variant detected. Likely white markings.

 

Frame/Lethal White Overo (LWO) - n/n EDNRB Negative

 

Leopard Complex Spotting (LP) - n/n TRPM1 Negative

 

Pattern 1 (PATN1) - n/n RFWD3 Negative

 

Sabino1 (SB1) - n/n KIT Negative

 

Tobiano (TO) - n/n ECA3 Negative

 

Splashed White (SW1) - n/n MITF Negative

 

Splashed White (SW2) - n/n PAX3 Negative

 

Splashed White (SW3) - n/n MITF Negative

 

Splashed White (SW4) - n/n PAX3 Negative

Health Variants - Color Related Risk

Lethal White Overo (LWO) - n/n EDNRB Negative

 

Congenital Stationary Night Blindness (CSNB) -n/n

 

Multiple Congenital Ocular Anomalies (MCOA) -n/n

Immune System

Foal Immunodeficiency Syndrome (FIS) - n/n SLC5A3 Negative

 

Severe Combined Immunodeficiency (SCID) - n/n DNAPK Negative

 

West Nile Virus Symptom Susceptibility Risk (WNVR) - n/n OAS1 Negative

Muscle Disorders

Glycogen Branching Enzyme Deficiency (GBED) -n/n

 

Hyperkalemic Partial Paralysis (HYPP) - n/n SCN4A Negative

 

Malignant Hyperthermia (MH) - n/n RYR1 Negative

 

Myotonia (MYT) - n/n CLCN4 Negative

 

Polysaccharide Storage Myopathy type 1 (PSSM1)- n/n

Neurologic Disorders

Cerebellar Abiotrophy (CA) - n/n MUTYH Negative

 

Lavender Foal Syndrome (LFS) - n/n MYO5A Negative

Reproductive Disorders

Androgen Insensitivity Syndrome (AIS) - n/n AR Negative

 

Impaired Acrosomal Reaction - Subfertility Risk (IAR) - iar/n,iar/n

Skin, Hoof and Connective Tissue Disorders

Hereditary Equine Regional Dermal Asthenia (HERDA) - n/n

 

Junctional Epidermolysa Bullosis type 1 (JEB1) - n/n

 

Junctional Epidermolysa Bullosis type 2 (JEB2) - n/n

Perform and Abilities

Gait Type Non-"Gaited" DMRT3 DMRT3 Detected

 

Performance Sprint MSTN Likely Affected

 

Temperament Curious DRD4 Detected

Two Curiosity variants; horse may be more curious than vigilant.

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