Genetic Profile Test Results
Etalon diagnostics, November 21st, 2022
UC Davis, December 27th, 2022
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.
Gait: Neg for DMRT3 No DMRT3 variants; likely non-gaited (*variants for novel "gait" abilities are currently in research).
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.
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
Brindle (BR1) - n/n MBTPS2BR1 Negative
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.