Name: O Padrão Frame Overo
Brand: Equigerminal
Price: 43.05 EUR

Sobre o teste

Este teste de DNA deteta a mutação Frame Overo (O) no gene EDNRB, responsável pelo padrão de pelagem branca Frame Overo e associada à Síndrome do Poldro Branco Letal (LWFS).

O teste ajuda a identificar cavalos portadores da mutação Overo para apoiar decisões de reprodução informadas e prevenir poldros afetados.

Porquê testar?

Recomenda-se realizar testes para:

Identificar cavalos portadores da mutação Frame Overo.
Apoiar decisões responsáveis de reprodução.
Prevenir cruzamentos que possam produzir poldros afetados pela Síndrome do Poldro Branco Letal (LWFS).
Confirmar o estado genético de cavalos com ou sem o padrão característico de pelagem Overo.

Sinais clínicos

No copy: no frame overo pattern. The horse can still have white from other genes.

One copy: the frame overo pattern, in a healthy horse.

White patches with jagged, irregular edges, mostly on the sides of the body and neck
The white rarely crosses the back, so the horse looks framed by colour
The legs are usually coloured
The face often has a lot of white, and blue eyes are common
Some carriers show very little white, or none at all, and a tobiano pattern can hide it completely

Two copies: Lethal White Foal Syndrome.

The foal is born all white or nearly all white, often with blue eyes
The nerve cells that move food through the end of the small intestine and the large intestine are missing, so the foal cannot pass manure
Colic starts within the first day, usually within 12 to 24 hours of birth
The foal dies within days. Surgery has been tried without success, and there is no treatment. Your veterinarian will advise on ending the foal's suffering
At least some affected foals are also deaf

Deafness in adults. Deafness has been found in horses carrying frame overo, mostly those with splashed white or mixed patterns. The variant on its own does not necessarily cause it.

Transmissão

The pattern is dominant, the lethal disease is recessive. One copy gives the frame overo pattern. Only a foal with two copies, one from each parent, has Lethal White Foal Syndrome. The gene is not on a sex chromosome, so colts and fillies are the same.

What each mating can produce:

n/n x n/n gives 100% n/n
n/n x n/O gives 50% n/n, 50% n/O: no lethal white foals
n/O x n/O gives 25% n/n, 50% n/O, 25% O/O: one foal in four has Lethal White Foal Syndrome

These chances apply to each foal and are the same for every pregnancy, whatever happened before. Foals with two copies do not survive to breed, so every relevant mating is one of the three above.

Prevenção

Lethal white foals are completely preventable by testing before mating.

Never mate two carriers
Mate a carrier only with a partner that tested negative
Test every spotted breeding horse, including tobianos and solid-coloured horses from spotted lines, not only the obvious frame overos
Test the foals you keep for breeding, so the next generation is known too

A carrier does not need to leave the breeding programme. Bred only to partners that tested negative, it keeps its bloodline and its pattern.

Descrição dos resultados

O teste de DNA verifica a presença da mutação associada ao Overo e apresenta os resultados como um dos seguintes:

N/ - Não-Overo cavalo.
O/N - Cavalo Frame Overo. O cavalo é heterozigótico para o gene dominante causador do frame Overo. Um padrão característico de pelagem Overo está presente em todos os cavalos O/N com uma cópia do frame Overo e este alelo será transmitido a 50% da descendência. Cruzar dois cavalos Frame Overo tem 50% de chance de gerar poldros Lethal White e deve ser evitado.
O/ – Síndrome do Poldro Branco Letal (LWFS). Homozigóticos para frame Overo são letais e os recém-nascidos sobrevivem menos de uma semana.

Requisitos da amostra

30 a 40 - raízes de crinas - envelope ou 5 mL - sangue - tubo K3 EDTA

Envie a sua amostra por correio normal para:

Equigerminal Lab HIESE
Rua da Quinta do Sobreiro Nº25
3230-343 Penela, Portugal

Tempo de resposta

Processamento padrão: resultados no prazo de 5 a 10 dias úteis após a chegada da amostra ao laboratório. O envio é organizado e pago pelo cliente, e o tempo de transporte não está incluído nos 5 a 10 dias úteis.

As amostras que falhem a extração ou a amplificação de ADN são repetidas sem custo adicional, o que pode acrescentar alguns dias úteis. Contactamo-lo se for necessária uma nova amostra.

Como funciona

🛒 Compre o teste: selecione e compre o teste online.

📧 Receba as instruções: após a confirmação do pagamento, recebe por email as instruções de recolha da amostra.

✨ Recolha a amostra: arranque 20 a 40 raízes de pelo com o bolbo, ou peça ao seu veterinário que colha sangue num tubo K3-EDTA.

📄 Preencha o formulário: imprima e preencha o formulário de submissão com a identificação do animal.

📮 Envie para o laboratório: Equigerminal, S.A., HIESE, Rua da Quinta do Sobreiro, 25, Quinta Vale do Espinhal, 3230-343 Penela, PORTUGAL.

📄 Receba o relatório: o relatório certificado é emitido assim que a análise for validada.

FAQs

Is this the same as your LWFS test?
Yes, both read the same variant. You only need one of them.

What does this test not detect?
Tobiano, splashed white, sabino, dominant white and the base colour.

At what age can a horse be tested?
Any age, including a newborn foal. The genotype is fixed at conception and never changes.

What should I order alongside it?
Tobiano, if the horse is spotted, and Extension and Agouti to predict the colour of the foal.

For Professionals

Genetic and clinical detail for veterinarians, geneticists and laboratories.

Gene / locus: EDNRB (endothelin receptor type B), Frame overo (O) locus, ECA17.
Variant: Ile118Lys (I118K), dinucleotide substitution, missense. HGVS (EquCab3.0): NC_009160.3:g.50503041_50503042delinsCT; NM_001081837.2:c.353_354delinsAG; NP_001075306.2:p.(Ile118Lys).
Alternative designations: frame overo allele; described in 1998 as Ile118Lys (Metallinos et al.; Santschi et al.) and as a dinucleotide mutation (Yang et al.). Genomic delinsCT and cDNA delinsAG are the same change on opposite strands. Laboratory allele symbol: O.
Variant identifiers: no rs/EVA identifier listed in OMIA; OMIA variant 160.
Variant classification: not currently evaluated (ISAG/AVCG, per OMIA).
Mechanism: EDNRB is needed in the embryo for the migration of pigment cell precursors and enteric nerve cells. Heterozygotes have skin patches without melanocytes; homozygotes also lack enteric neurons.
Inheritance: pattern autosomal dominant; lethal white foal syndrome autosomal recessive. OMIA code: A (autosomal).
Penetrance / expressivity: frame pattern is not expressed in all heterozygotes and may be masked by other white patterns; about 5% of phenotypic frame overos lacked the allele (Santschi et al., 2001). No living O/O horse was found.
Breeds with documented carriers or cases: American Paint Horse, Quarter Horse, Thoroughbred, Miniature Horse (OMIA variant record); Pinto (Metallinos et al., 1998); Brazilian horse populations (Badial et al., 2018).
Allele / carrier frequencies: carrier frequency by pattern (Santschi et al., 2001; 945 white-patterned and 55 solid horses): frame 178/188 (95%), frame blend 153/158 (97%), loud calico 37/37 (100%), medicine hat 9/13 (69%), tovero 49/84 (58%), calico 21/38 (55%), bald-faced 6/17 (35%), sabino 3/15 (20%), breeding-stock solid 26/146 (18%), splashed white 3/26 (12%), tobiano 11/109 (10%), minimal calico 6/67 (9%), non-frame blend 0/14, solid horses of other breeds 0/55. Allele frequency 10.7% in 180 control American Paint Horses (Tryon et al., 2009). In Brazil, 21.6% of horses tested carried the variant, and 89.5% of overo horses (Badial et al., 2018).
Clinical / diagnostic notes for veterinarians: O/O foals are almost entirely white with myenteric aganglionosis and fatal functional intestinal obstruction. 31 of 34 deaf or suspected-deaf American Paint Horses carried the variant, mostly with splashed white or splashed white-frame blend patterns, extensive head and limb white and blue eyes (Magdesian et al., 2009); hearing can be assessed by brainstem auditory-evoked responses.

Key references:

Metallinos DL, Bowling AT, Rine J (1998). A missense mutation in the endothelin-B receptor gene is associated with Lethal White Foal Syndrome: an equine version of Hirschsprung disease. Mamm Genome 9:426-431.
Santschi EM, Purdy AK, Valberg SJ, Vrotsos PD, Kaese H, Mickelson JR (1998). Endothelin receptor B polymorphism associated with lethal white foal syndrome in horses. Mamm Genome 9:306-309. PMID 9530628.
Yang GC, Croaker D, Zhang AL, Manglick P, Cartmill T, Cass D (1998). A dinucleotide mutation in the endothelin-B receptor gene is associated with lethal white foal syndrome (LWFS); a horse variant of Hirschsprung disease. Hum Mol Genet 7:1047-1052.
Santschi EM, Vrotsos PD, Purdy AK, Mickelson JR (2001). Incidence of the endothelin receptor B mutation that causes lethal white foal syndrome in white-patterned horses. Am J Vet Res 62:97-103.
Magdesian KG, Williams DC, Aleman M, LeCouteur RA, Madigan JE (2009). Evaluation of deafness in American Paint Horses by phenotype, brainstem auditory-evoked responses, and endothelin receptor B genotype. J Am Vet Med Assoc 235:1204-1211.
Tryon RC, Penedo MCT, McCue ME, et al. (2009). Evaluation of allele frequencies of inherited disease genes in subgroups of American Quarter Horses. J Am Vet Med Assoc 234:120-125. doi:10.2460/javma.234.1.120.