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Overo

Overo is a distinctive white spotting pattern observed in horses, particularly within breeds like the American Paint Horse, where irregular, jagged white markings typically originate on the sides or belly and extend toward the neck, head, and tail without crossing the topline between the withers and tail, leaving the back predominantly colored.^[1]^[2] The overo pattern traces its origins to horses introduced by Spanish explorers in the 16th century and was formally recognized in the establishment of the American Paint Horse Association in 1965. This pattern contrasts with tobiano, another pinto variant, by its asymmetrical distribution and lack of leg involvement in the white areas, often resulting in extensive white markings on the face, such as a bald face.^[1]^[3] The term "overo" derives from Spanish, originally meaning "like an egg," and encompasses several genetically distinct subtypes, with frame overo being the most common, characterized by horizontally oriented white patches framed by solid color.^[2]^[4] Genetically, frame overo is linked to a mutation in the EDNRB gene on chromosome 17, which can lead to the fatal condition known as overo lethal white syndrome (OLWS) when two carrier horses are bred, producing foals with severe intestinal issues and typically white coats that do not survive beyond a few days.^[5]^[3]^[6] Overo patterns are registered and celebrated by organizations such as the American Paint Horse Association, which recognizes them as a hallmark of the breed's colorful diversity, though breeding practices emphasize genetic testing to avoid OLWS risks.^[2]

Introduction

Definition and Characteristics

Overo is an umbrella term encompassing several genetically distinct white spotting patterns in horses, collectively known as pinto colorations, that feature irregular white markings over a base coat of solid color such as bay, black, or chestnut, while excluding the tobiano pattern. These patterns, including frame overo, splash overo, and sabino, result in white areas with varying distributions. Characteristics differ by subtype: frame overo, the most common, typically originates from the sides, neck, and underbelly rather than the legs, creating a "framed" appearance where the colored topline remains prominent, with jagged, asymmetrical edges that do not cross the horse's back between the withers and tail; splash overo resembles a horse splashed with white paint, often involving the legs and extensive facial markings; sabino features feathered white on the legs, roaning, and irregular white from below (detailed in the Overo Subtypes section). This distinguishes overo from other spotting types.^[2]^[7] Common visual characteristics across overo patterns include dark pigmentation on the head and dorsal midline, with white markings concentrated on the body and flanks; the tail is usually a single color without extensive white extension. Horses may exhibit bold facial markings such as a bald face, apron face, or bonnet face, and blue eyes are frequently observed, particularly in patterns with significant white coverage like splash and sabino. The skin beneath white areas is typically pink, though pigmented skin may border the edges of markings, sometimes accompanied by small "ink spot" areas of color within the white, especially in frame overo. These features contribute to a scattered or splashed effect, with crisp delineations between white and colored regions.^[2]^[7] The expression of overo patterns varies widely due to their heterozygous nature, ranging from minimal white spotting—such as a single irregular patch—to extensive coverage that can encompass much of the body while often sparing the topline. This variability allows for unique individual presentations, though the patterns are generally asymmetrical and lack the vertical leg-to-body flow seen in other pinto types. Overo is most prominently displayed in breeds like the American Paint Horse and the Pinto, but it also appears in crosses with Thoroughbreds, Quarter Horses, and other light horse breeds, enhancing their distinctive aesthetic appeal in performance and show contexts.^[2]^[7]

Historical Recognition

The overo coat pattern in horses traces its roots to the colonial era, emerging prominently in the 20th century among American breeds such as the Paint Horse, which descended from Spanish Barbs and other colonial stock introduced by explorers in the 1500s. These early horses, brought by Spanish conquistadors like Hernán Cortés, escaped and formed feral herds across the Great Plains, where their distinctive spotting patterns were selectively bred by Native Americans and later by ranchers for working stock. By the mid-20th century, as interest in colorful stock horses grew, the overo pattern gained visibility in the United States, particularly through crosses with Quarter Horses and Thoroughbreds that amplified the irregular white markings.^[8]^[9] The term "overo" originates from Spanish, meaning "like an egg" and historically referring to smooth-edged or speckled spotting patterns observed in South American horses. In the United States, it was first adopted in the 1960s by the American Paint Horse Association (APHA) to describe non-tobiano pinto patterns, distinguishing them for registration purposes. Founded in 1962, the APHA began classifying overo alongside tobiano as early as the registry's inception, requiring specific white markings on a base color for eligibility, which helped standardize identification in breeding programs. This formal categorization addressed the need to preserve the breed's unique aesthetics amid growing popularity.^[10]^[11] Initial recognition of overo faced challenges due to confusion with other pinto variations, as the pattern encompassed multiple visually similar but genetically distinct types. Genetic studies in the 1990s, including research on dominant inheritance, began clarifying these subtypes by demonstrating that overo spotting was not controlled by a single gene, paving the way for more precise breeding and health assessments. For instance, a 1994 study confirmed the autosomal dominant nature of overo spotting while noting potential involvement of multiple loci. In 1997, APHA approved funding for further research on overo lethal white syndrome, advancing molecular understanding.^[12]^[10]

Comparison with Tobiano

Tobiano Pattern

The tobiano pattern is a dominant form of white spotting in horses, resulting from a large chromosomal inversion on equine chromosome 3 that affects the regulation of the KIT gene. This mutation leads to characteristic rounded, vertical patches of white that typically originate on the chest and extend rearward across the body, often crossing the topline between the withers and the tail.^[13] The white areas have smooth, uniform edges, distinguishing them from more irregular patterns, and the underlying skin beneath white hair is pink, while pigmented areas show black skin.^[13] Key identifying traits of tobiano include white markings on all four legs that usually extend above the knees and hocks, a predominantly dark head with minimal white (often limited to a star, strip, or blaze), and a mane and tail that may be bicolored due to interspersed white and dark hairs.^[13] Unlike some spotting patterns, tobiano lacks jagged or irregular borders, and the eyes are typically brown, though blue eyes can occasionally occur.^[14] The extent of white can vary widely, from moderate leg and body markings to extensive coverage, but the pattern always involves white crossing the spine.^[13] This pattern is particularly prevalent in breeds such as the American Paint Horse, where it forms one of the primary recognized colorations, and the Gypsy Vanner, valued for its striking piebald or skewbald appearances.^[2]^[15] Horses homozygous for the tobiano allele (TO/TO) frequently display maximal white expression, appearing nearly all white with only small patches of color, and they consistently produce tobiano-patterned foals regardless of the mate's genetics.^[14] In the American Paint Horse Association (APHA), registration criteria for offspring of solid-colored registered parents emphasize the tobiano allele; solid foals can qualify for Regular Registry status if genetic testing confirms the presence of at least one tobiano allele, enabling them to produce qualifying patterned progeny.^[2]

Key Differences from Overo

The Overo pattern in horses is distinguished from the Tobiano pattern primarily by the orientation and distribution of white markings. In Overo horses, the white areas typically originate on the sides or belly and spread horizontally or jaggedly toward the neck, tail, and legs, but rarely cross the topline or back, creating a "shielded" appearance where colored areas frame the white patches.^[1] In contrast, Tobiano markings feature vertical or rounded white patches that consistently cross the topline between the ears and tail, often originating from the head, chest, flanks, and buttocks.^[16] This horizontal versus vertical orientation aids in visual differentiation, as Overo white tends to hug the body's contours without bridging the spine, while Tobiano white prominently traverses it.^[13] Leg and head markings further highlight the contrast between the two patterns. Overo horses generally exhibit dark legs below the knees and hocks, with minimal to no white extending upward on the limbs, and often display extensive white on the face, such as a bald or "bonnet" face with irregular white extending from the eyes or jaw.^[1] Tobiano horses, however, typically have white legs extending from the knees and hocks upward, sometimes fully white, paired with a predominantly dark head featuring only standard facial markings like a blaze or star.^[16] These differences in limb and facial pigmentation help prevent misidentification, particularly in mixed or ambiguous coat presentations. The quality of the marking edges also sets Overo apart from Tobiano. Overo borders are irregular, flame-like, and lacy, with jagged, uneven transitions between white and colored areas that give a splashy or framed effect.^[1] Tobiano edges, by comparison, are smooth, crisp, and well-defined, resembling classic piebald patterns with flowing, rounded spots.^[16] This textural distinction in edge sharpness contributes to the overall aesthetic and aids breeders and judges in classification. Breeding outcomes underscore a critical genetic divergence, particularly regarding homozygosity. Homozygous Overo horses, especially in the frame subtype, frequently result in lethal white foals due to the inheritance of two copies of the frame gene (EDNRB mutation), leading to conditions like aganglionic megacolon and high mortality shortly after birth.^[17] In contrast, homozygous Tobiano horses are fully viable, often displaying extensive white coverage across the body, and produce Tobiano offspring in 100% of matings regardless of the partner's pattern, without associated lethal risks.^[13] This viability difference influences breeding strategies, with Tobiano homozygotes prized for pattern predictability, while Overo carriers require genetic testing to mitigate lethal outcomes.^[16]

Overo Subtypes

Frame Overo

Frame overo is characterized by a distinctive white spotting pattern where the colored areas form a horizontal "frame" around irregular, jagged white patches primarily located on the neck, barrel, and flanks, while the back, legs, and often the tail remain predominantly colored.^[2]^[18] The white markings typically originate from the belly or sides and spread asymmetrically, creating a framed effect without usually crossing the topline between the withers and tail.^[2]^[19] A common facial feature is extensive white, such as a bald face or blaze, sometimes accompanied by a shield-like patch of color on the forehead.^[2] The expression of the frame overo pattern varies widely along a continuum, from minimal markings—such as scattered white hairs on the sides—to more extensive white coverage that can encompass over half the body while still maintaining the framed structure and avoiding the topline.^[18]^[20] In maximal expressions, the white patches may appear splashy or lacy, with at least one leg (and often all four) remaining dark, enhancing the contrast of the pattern.^[2]^[19] Bald-faced individuals frequently exhibit one or both blue eyes, adding to the pattern's striking visual impact.^[18]^[2] This subtype is particularly prevalent among American Paint Horses, where it contributes to the breed's signature pinto coloration and is recognized as a key pattern for registration.^[2]^[19] Frame overo overlays any base coat color, such as bay, chestnut, or black, without modifying the underlying hue, simply introducing white in contrast to the solid-colored frame.^[18]^[19]

Splash Overo

Splash overo, also known as splashed white, is a subtype of the overo coat pattern in horses characterized by extensive, fluid white markings that create a distinctive "splashed" appearance, as if the horse has been dipped in white paint from the underside upward. These markings typically originate from the belly and extend variably across the body, often covering significant portions of the flanks, chest, and legs while sparing the dorsal midline between the withers and tail. The white areas feature crisp, well-defined borders and a glossy, smooth texture on the pink-skinned patches, contributing to a paint-spill-like effect that can range from moderate to extreme coverage.^[21]^[2]^[22] A hallmark of the splash overo pattern is the prominent facial white, often resulting in an extreme bald face that encompasses the chin, lips, and jaw, sometimes extending to create an apron- or bonnet-like marking. Blue eyes are common, occurring in one or both eyes due to the extensive white pigmentation on the head. The pattern's expression varies widely, from lower degrees with white primarily on the lower body and legs to higher degrees where white wraps around the sides but avoids crossing the back, maintaining colored areas along the topline. This fluid distribution distinguishes it within the overo grouping, emphasizing irregular, dripping whites rather than structured patches.^[23]^[22]^[2] Splash overo is particularly prevalent in certain bloodlines of American Paint Horses and Miniature Horses, where it contributes to the breed's diverse spotting patterns. In these populations, the glossy white areas enhance the visual appeal, though the pattern's variability can make identification challenging without genetic testing. A notable association exists with possible deafness, especially in horses with extensive white head markings and blue eyes, though not all affected individuals exhibit this trait and further clinical evaluation is recommended.^[21]^[22]^[23]

Sabino

Sabino represents an irregular form of white spotting in horses, distinct from more sharply defined patterns, and is often encompassed within the broader overo category due to its association with pinto coloration.^[2] The pattern features flecked or roan-like white markings that typically appear on the legs, face, and belly, with white often extending minimally onto the body in a blended manner.^[24] These markings exhibit a non-piebald quality, characterized by roaning or ticking rather than bold, distinct patches, and may include a white chin in minimal expressions.^[24] Blue eyes can occur as a possible trait, particularly when facial white is extensive.^[25] Expression of sabino is highly variable, ranging from modest features like a broad blaze and high white socks to more extensive roaning that covers much of the coat.^[26] The white areas lack sharp edges, instead showing jagged, feathered, or irregular borders that blend into the base color.^[27] This pattern occurs across numerous breeds, including Arabians, Shires, Paints, and Quarter Horses.^[24]^[28] In pinto horse contexts, it is frequently termed "sabino overo" to highlight its irregular spotting.^[29]

Genetics

Frame Overo Genetics

The frame overo coat pattern in horses is caused by a dominant mutation in the endothelin receptor type B gene (EDNRB), specifically a missense mutation resulting in an isoleucine-to-lysine substitution at position 118 (Ile118Lys) in exon 4, which is denoted as the O allele.^[30] This mutation disrupts normal neural crest cell migration during embryonic development, leading to irregular white pigmentation primarily along the animal's midline.^[30] The inheritance of the frame overo pattern follows an autosomal dominant pattern with incomplete dominance for lethality. Heterozygous individuals (N/O, where N represents the wild-type allele) typically exhibit the frame overo spotting, characterized by jagged white areas framed by colored coat.^[17] In contrast, homozygous individuals (O/O) develop a completely white coat and suffer from severe intestinal aganglionosis, resulting in death shortly after birth.^[17] The O allele's expression in heterozygotes shows incomplete penetrance, such that approximately 10-20% of carriers display minimal or no visible white markings, often termed "cryptic" frames, with variability influenced by modifier genes at other loci.^[31]^[32] Genetic testing for the frame overo mutation is performed using polymerase chain reaction (PCR) to detect the specific Ile118Lys variant in the EDNRB gene from a DNA sample, typically blood or hair follicles.^[17] This test identifies carriers (N/O) with high accuracy, enabling breeders to avoid matings that could produce homozygous foals.^[17] Commercial laboratories, such as the Veterinary Genetics Laboratory at UC Davis, offer this assay for breeds like Paint Horses and Quarter Horses where the mutation is prevalent.^[17]

Splash Overo Genetics

The splashed white pattern, a subtype of overo spotting in horses, is primarily associated with dominant mutations in the MITF gene on equine chromosome 16, though some variants involve the PAX3 gene on chromosome 6.^[33] Specific MITF mutations include the SW1 variant, characterized by a 10 bp insertion in the promoter region (chr16:g.20,117,302Tdelins11), which disrupts normal transcription and leads to reduced melanocyte development.^[22] Other notable MITF alleles are SW3 (a frameshift mutation, p.C280Sfs*20), SW5 (a 63 kb deletion spanning chr16:21,503,211–21,566,617), SW6 (an 8,710 bp de novo deletion), and SW8 (a 2.3 kb de novo deletion, chr16:21,555,811–21,558,139).^[33]^[22] These mutations act in a dominant fashion, where a single copy in heterozygous animals (SW/-) typically produces the characteristic extensive white markings on the face, legs, and body, resembling a "splashed" effect.^[33] Inheritance of splashed white follows an autosomal dominant pattern, with expression in heterozygotes varying based on the specific allele and genetic background.^[33] Homozygous individuals for certain MITF variants, such as SW1/SW1, are viable and often exhibit extreme white patterning without the lethality seen in other overo subtypes, though they may show nearly all-white coats.^[22] In contrast, homozygotes for some PAX3-linked variants like SW2 may face viability challenges, but overall, splashed white mutations do not consistently result in embryonic lethality.^[33] The pattern's degree of white coverage can be influenced by interactions with other spotting genes, suggesting polygenic modifiers that contribute to phenotypic variability.^[33] The identification of these MITF loci emerged from post-2010 research utilizing genome-wide association studies (GWAS) and whole-genome sequencing, beginning with a 2012 study that linked SW1 and SW3 to MITF through linkage analysis in Quarter Horse families (LOD score 1.6 on ECA16).^[33] Subsequent sequencing efforts revealed de novo mutations like SW6 in 2020 and SW8 in 2023, with two additional novel variants in MITF and PAX3 identified in 2023, expanding the known allelic series to at least ten variants as of 2025 and highlighting the role of structural variants in generating novel splashed white phenotypes.^[34]^[35]^[36] This variable penetrance, where some carriers show minimal white while others display bold splashing, underscores the contributions of multiple alleles and potential epistatic effects in pigmentation pathways.^[33]

Sabino Genetics

The sabino spotting pattern in horses exhibits primarily polygenic inheritance, involving interactions among multiple genetic factors that contribute to variable white markings on the face, legs, belly, and body, often with roaning or jagged edges. While several genes influence this phenotype, the KIT gene on equine chromosome 3 plays a prominent role through specific mutations that disrupt melanocyte migration and survival during development.^[23]^[37] A key contributor is the Sabino1 (SB1) variant, characterized by a single nucleotide polymorphism (SNP) in intron 16 of KIT, specifically a T-to-A substitution at position KI16+1037A (chr3:79544206T>A in EquCab3.0), which causes partial skipping of exon 17 and results in a dysfunctional KIT protein.^[37]^[23] This mutation demonstrates incomplete dominance: heterozygous (SB1/N) horses typically show moderate sabino spotting, such as high white on legs, a broad blaze, and roaning, while homozygous (SB1/SB1) individuals are nearly or fully white with minimal pigment.^[24]^[38] The SB1 allele was first identified in breeds like Tennessee Walking Horses and American Paint Horses, where it fully segregates with the phenotype in studied pedigrees.^[37] Beyond SB1, sabino expression is modulated by other alleles at the KIT locus, such as dominant white variants including W20, which can enhance white extent when combined with SB1 or other modifiers, leading to a spectrum of patterns from subtle to extensive.^[23]^[39] These multiple KIT alleles act additively or epistatically, underscoring the polygenic complexity, though contributions from additional loci remain under investigation.^[40] Variability in sabino phenotype is further influenced by breed background, as certain lines carry breed-specific modifiers that alter white distribution and intensity, preventing uniform expression even among carriers of the same alleles.^[23]^[40] Not all sabino patterns derive from the SB1 allele; many horses exhibit sabino-like spotting without detectable SB1, indicating involvement of unidentified KIT variants or other polygenic factors.^[37]^[24] This genetic heterogeneity poses identification challenges, as no single test captures all sabino influences; instead, comprehensive panel testing for known KIT mutations, including SB1, W5, W10, W13, W20, W22, and more recent additions such as W37, W38, and W39 (identified as of 2025), is recommended to evaluate potential contributions and guide breeding decisions.^[39]^[38]^[41]

Combined and Mixed Patterns

Tovero

A tovero is a horse that carries both the tobiano spotting pattern, caused by a mutation in the KIT gene, and at least one overo allele, such as frame, splash, or sabino.^[42] This combination results in a distinctive pinto coat pattern recognized in breeds like the American Paint Horse.^[2] The appearance of a tovero typically blends tobiano's characteristic white markings on the legs and a white blanket that crosses the topline with overo's irregular white patches on the sides of the body and along the jawline.^[42] These horses often exhibit a predominantly dark head with extensive white facial markings, and one or both eyes may be blue; additionally, the white areas may cross the topline in an irregular manner rather than the more uniform band seen in pure tobianos.^[2] Dark spots or pigmentation frequently appear around the ears, on the chest, flanks, or tail base, contributing to the pattern's unique contrast.^[2] The expression of the tovero pattern is highly variable, influenced by the specific alleles present and their interactions, sometimes resembling an extreme tobiano with added irregular white or mimicking a bold overo with leg white extending upward.^[42] This variability can make identification challenging without genetic testing, as the markings may range from moderate spotting to nearly all-white coats.^[2] The American Paint Horse Association (APHA) recognizes toveros for registration provided both tobiano and overo patterns are visibly present and verifiable through pedigree, markings, or genetic testing.^[2] Eligibility requires at least one parent registered with APHA, AQHA, or the Jockey Club, along with qualifying white markings or confirmed paint pattern genes.^[2]

Other Combinations

Combinations of frame overo and splash white produce extensive white markings on the body, featuring the irregular, framed patches of frame overo blended with the crisp, ventral splashing typical of splash white, often resulting in bold facial blazes and elongated leg white that may encroach on the topline. These horses frequently exhibit blue eyes due to the additive effects of both patterns, with splash white contributing a higher risk of deafness in some cases.^[43] When sabino is present alongside frame or splash overo, the resulting pattern incorporates sabino's characteristic roaning and jagged white extensions on the legs and underbelly, enhancing the base overo markings to create broader areas of white coverage that can approach near-total depigmentation without crossing into lethality, provided the frame allele remains heterozygous. This interaction amplifies irregular edges and pink-skinned patches, distinguishing it from single-subtype expressions.^[43] Modifiers such as roan and the appaloosa (leopard complex) can occur alongside overo patterns, visually diversifying the coat without altering the core overo genetics.^[43] Rare cases of poly-overo, where horses carry frame, splash, and sabino subtypes simultaneously, yield phenotypes with near-solid white coats featuring combined framed, splashed, and roaned elements, yet remain viable as the patterns' heterozygous expression avoids the homozygous frame lethality associated with OLWS. Such extreme white presentations highlight the additive nature of multiple white-spotting genes without necessarily impairing health beyond potential sensory risks like blue eyes or deafness.^[43]

Health and Breeding Considerations

Lethal White Overo Syndrome

Lethal White Overo Syndrome (OLWS), also known as lethal white foal syndrome, is a fatal autosomal recessive disorder that affects foals homozygous for the frame overo allele (O/O). These foals are typically born with a completely white coat, unpigmented skin, and blue eyes, accompanied by severe congenital defects in the gastrointestinal tract. The condition arises specifically from the inheritance of two copies of the mutated endothelin receptor B (EDNRB) gene, which is the same genetic variant responsible for the frame overo coat pattern in heterozygous carriers. Without intervention, affected foals succumb within hours to days after birth due to complications from intestinal dysfunction.^[44]^[20]^[45] The hallmark symptoms of OLWS include aganglionic megacolon, a lack of enteric nervous system ganglia in the distal segments of the small and large intestine, leading to profound gut hypomotility or ileus. Affected foals exhibit an inability to pass meconium shortly after birth, resulting in abdominal distension, signs of colic such as restlessness and sweating, and eventual toxic enteritis or bowel rupture. Additional features may include partial or complete deafness due to inner ear abnormalities, though the primary cause of death is the gastrointestinal crisis, often necessitating euthanasia. The syndrome was first clinically described in the 1970s among American Paint Horse populations, with molecular characterization confirming its genetic basis in 1998. A 2025 review reaffirms the etiology, noting that while theoretical risk is 25%, actual incidence is lower due to variable penetrance and potential embryonic lethality, and cases can occur in non-overo patterned horses.^[20]^[45]^[46] OLWS is most prevalent in American Paint Horses and related breeds like Quarter Horses, where the EDNRB mutation occurs at high frequency among frame overo individuals—over 90% of such horses are heterozygous carriers. In matings between two carriers, the theoretical risk of producing an affected foal is 25%, but predicted incidence in overo × overo breedings is lower, approximately 13%, due to factors such as incomplete penetrance of the overo phenotype and variable breeding practices. The mutation has also been identified in other breeds, including Thoroughbreds and Miniature Horses, though at lower rates.^[47]^[32] At the pathophysiological level, the Ile118Lys missense mutation in the EDNRB gene—a dinucleotide substitution (TC to AG)—impairs the receptor's function by about 80%, disrupting signaling essential for neural crest cell migration during embryonic development. Neural crest cells fail to properly differentiate into melanocytes, causing the depigmented phenotype, and into enteric neurons, resulting in aganglionosis of the ileum and colon. This equine condition serves as a model for Hirschsprung disease in humans, highlighting conserved developmental pathways across species.^[44]^[45]

Genetic Testing and Breeding Management

Commercial laboratories provide polymerase chain reaction (PCR) testing for the EDNRB gene mutation associated with frame overo carriers, enabling breeders to identify horses at risk of producing offspring with lethal white overo syndrome (OLWS).^[17]^[48] Similarly, multi-gene panels are available to detect splash overo variants in the MITF gene, as well as sabino patterns linked to mutations in the KIT gene, allowing comprehensive screening for multiple white spotting traits in a single test.^[22]^[33]^[24] These tests typically require a hair sample with roots and are offered by reputable providers such as the Veterinary Genetics Laboratory at UC Davis and Etalon Diagnostics, with results indicating carrier status (heterozygous) or clear (non-carrier).^[49]^[38] To prevent OLWS, which carries a 25% risk of affected foals when two frame overo carriers are bred, breeders should avoid mating two known carriers and instead pair frame overo horses with tobiano-patterned or non-carrier individuals, as tobiano does not interact with the EDNRB mutation to produce the syndrome.^[20]^[50] This strategy reduces the incidence of homozygous foals while preserving desirable coat patterns, and genetic counseling from equine veterinarians can further optimize pairings based on test results.^[51] The American Paint Horse Association (APHA) requires genetic testing for certain white pattern genes, including OLWS carrier status, with results filed for stallions standing at stud to ensure transparency in breeding records and support informed decisions by owners.^[52] For high-value frame overo carriers, embryo transfer techniques allow production of multiple foals per year by flushing embryos from the donor mare after mating to a non-carrier stallion and implanting them into recipient mares, minimizing gestation risks for the valuable mare while controlling genetic outcomes.^[53]^[54] As of 2025, research into CRISPR-Cas9 gene editing has advanced in equine applications, primarily targeting performance-related mutations like those in the MSTN gene, but practical editing of OLWS-associated EDNRB variants remains experimental and not implemented in breeding programs due to ethical and regulatory hurdles.^[55]^[56] Concurrently, improved multi-gene panels for coat color genetics, such as the comprehensive APHA-eligible panel launched by UC Davis, now incorporate all recognized white patterning loci including EDNRB, MITF, and KIT, providing breeders with more precise tools for risk assessment and pattern prediction.^[57]

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Apr 10, 2018 · According to Brooks & Bailey (2005), Sabino spotted horses must fulfill three out of four characteristics: (i) two or more white feet or legs, ( ...
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[PDF] Arabian Coat Color Patterns | Wahler Equine
Sabino in Arabian horses is one of the best-known Arabian coat color patterns, but difficult to define because there is considerable variation in markings. It ...
[28]
Coat Patterns - Paint Horse Association of Australia
In Australia we only use the term Overo to refer to the phenotype produced by the OLWS gene. The other colour patterns (but not phenotypes) of 'Sabino' and ...
[29]
A missense mutation in the endothelin-B receptor gene is ... - PubMed
Breedings between particular spotted horses, generally described as frame overo, produce some foals that, in contrast to their parents, are all white or nearly ...
[30]
Entry - *131244 - ENDOTHELIN RECEPTOR, TYPE B; EDNRB - OMIM
In addition, some horses identified as carriers had no recognized overo coat pattern phenotype, demonstrating the incomplete penetrance of the mutation.
[31]
[PDF] The Impact of the Mutation Causing Overo Lethal White Syndrome ...
Horses were subtyped as breeding stock white if they were adult all-white horses of Paint breeding. Subtypes of Overo. Horses that fit the general description ...
[32]
Mutations in MITF and PAX3 Cause “Splashed White” and ... - NIH
Apr 12, 2012 · Horses with minimal expression of overo spotting can have a very similar coat color phenotype as splashed white horses.
[33]
A De Novo MITF Deletion Explains a Novel Splashed White ...
Splashed white is a coat color pattern in horses characterized by extensive white patterning on the legs, belly, and face often accompanied by blue eyes and ...<|control11|><|separator|>
[34]
A de novo 2.3 kb structural variant in MITF explains a novel ...
Sep 12, 2023 · A splashed white Thoroughbred stallion, whose sire and dam were not patterned, was hypothesized to have a de novo variant leading to his white coat pattern.
[35]
Exon skipping in the KIT gene causes a Sabino spotting pattern in ...
Nov 11, 2005 · Horses with the Sabino 1 trait produced a splice variant of KIT that did not possess exon 17. Genomic DNA sequencing of KIT revealed a single ...
[36]
Sabino 1 Gene (SB1) in Horses - Etalon Equine Genetics
Sabino 1 is a variant of the KIT gene that causes the sabino (or sabino overo) spotting pattern. Sabino 1 is an example of incomplete dominance.
[37]
Dominant White Mutations – W5, W10, W13, W20, and W22
Dominant white is a variable white spotting pattern caused by many different mutations in the KIT gene. The VGL tests for the five most common mutations.Missing: multiple polygenic
[38]
[PDF] Untitled - Oregon State University
May 23, 2011 · Sabino Clydesdales, Arabians, and American Paint Horses have sabino patterns that appear to be polygenic rather than due to a single allele, ...
[39]
Equine Coat Color Genetics
Patch white spotting patterns include Appaloosa, Dominant White, Sabino 1, Splashed White, Tobiano, and Overo. These all vary in the location of the white ...Missing: characteristics | Show results with:characteristics
[40]
https://ir.library.oregonstate.edu/downloads/cc08hh547
[41]
A dinucleotide mutation in the endothelin-B receptor gene ... - PubMed
We decided to investigate possible mutations of the endothelin-B receptor gene ( EDNRB ) in LWFS as recent studies in mutant rodents and some patients have ...Missing: testing | Show results with:testing
[42]
Lethal white foal syndrome: a review - Canadian Science Publishing
The EDNRB mutation has been observed in horse breeds with and without overo patterning such as American Paint horses that are solid, American Paint horses ...
[43]
Overo lethal white foal syndrome: equine model of aganglionic ...
The lethal white foal syndrome (LWFS) is a congenital abnormality of overo spotted horses which is a model for human aganglionic megacolon or Hirschsprung ...
[44]
Incidence of the endothelin receptor B mutation that causes lethal ...
Paint breeding. Subtypes of overo—Horses that fit the general descrip- tion of overo have great variation in color pattern that allows further division into ...Missing: studies clarification
[45]
Lethal White Overo (LWO) - Etalon Equine Genetics
Lethal white overo (also known as frame overo) is a variant of the EDNRB gene that produces a white spotting pattern.Missing: penetrance | Show results with:penetrance
[46]
Horse Coat Color Panel | Veterinary Genetics Laboratory - UC Davis
The horse coat color panel bundles together several diagnostic tests to evaluate coat color. Panel can be purchased on MyVGL. See below for pricing.Missing: 2025 | Show results with:2025
[47]
American Paint Horse - Overo Lethal White Foal Syndrome - UFAW
There is a genetic mutation within this line of horses which means that some may inherit a disease called overo lethal white foal syndrome, which causes a lack ...
[48]
Foal with Overo lethal white syndrome born to a registered ... - NIH
Stud book records and observation of born foals show that the probability of producing an OLWS offspring is less than 25%. Possible factors contributing to this ...
[49]
Genetics 101 - APHA: American Paint Horse Association
Genetic typing is required for all breeding stallions and mares at APHA, and foals must be parentage verified by DNA as part of the registration process.Missing: solid | Show results with:solid
[50]
Embryo Transfer in Horses - Management and Nutrition
Embryo transfer in horses uses non-surgical techniques, usually on day 7 or 8, to transfer embryos via transcervical catheterization. The embryo is then ...
[51]
https://pmc.ncbi.nlm.nih.gov/articles/PMC339559/
[52]
CRISPR use in horses - Equus Magazine
In our work, we sequenced two high ranked off-targets in order to know if they were mutated and they were not mutated in our cells.” The potential applications ...
[53]
Efficient correction of a deleterious point mutation in primary horse ...
May 4, 2020 · In horses, one of these deleterious mutations is the 102C > A nonsense mutation in the first exon of the GBE1 gene, which causes the condition ...
[54]
UC Davis VGL Launches Comprehensive Coat Color DNA Panel for ...
Sep 8, 2025 · This specialized panel includes all currently recognized white patterning genes accepted by APHA for registration eligibility, offering breeders ...