Produktformular

Overo - frakkemønster

    DNA-testen verificerer tilstedeværelsen af ​​mutationen forbundet med Overo.  Frame Overo er et yderst ønskeligt gen for hvidt mønster. Eksempel 30...

    €43.05 Inkl. moms

      Om testenOm testen

      Denne DNA-test påviserFrame Overo (O)-mutationeni EDNRB-genet, der er ansvarlig for Frame Overo-hvidfarvemønstret og forbundet med Lethal White Foal Syndrome (LWFS).

      Testen hjælper med at identificere heste, der bærer Overo-mutationen, for at støtte informerede avlsbeslutninger og forhindre berørte føl.

      Hvorfor teste?Hvorfor teste?

      Test anbefales for at:

      • Identificere heste, der bærerFrame Overo-mutationen.
      • Støtte ansvarlige avlsbeslutninger.
      • Forhindre parringer, der kan producere føl, der er ramt afLethal White Foal Syndrome (LWFS).
      • Bekræfte den genetiske status for heste med eller uden det karakteristiske Overo-farvemønster.
      Kliniske tegnKliniske tegn

      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.

      TransmissionTransmission

      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.

      ForebyggelseForebyggelse

      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.

      ResultaterResultater

      DNA-testen bekræfter tilstedeværelsen af mutationen forbundet med Overo og præsenterer resultater som et af følgende:

      • N/- Ikke-Overohest.
      • O/N- Frame Overo hest. Hesten er heterozygot for det dominante gen, der forårsager frame Overo. Et karakteristisk Overo pelsmønster er til stede hos alle O/N heste med en kopi af frame Overo og vil videregive denne allel til 50% af afkommet. Parring af to Frame Overo heste har 50% chance for at generere Lethal White føl og bør undgås.
      • O/– Et Lethal White Foal Syndrome (LWFS). Homozygot for frame Overo er dødeligt, og nyfødte overlever mindre end en uge.
      Krav til prøverKrav til prøver

      30 til 40 - hårrødder - kuvert eller 5 mL - blod - K3 EDTA-rør

      Send din prøve med almindelig post eller ekspreslevering til:

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

      BehandlingstidBehandlingstid

      2 til 5 arbejdsdage

      Sådan fungerer detSådan fungerer det

      🛒 Køb testen:Vælg og køb testen online.

      📧 Modtag instruktioner:Efter bekræftelse af betaling modtager du instruktioner til prøveindsamling.

      ✨ Prøveindsamling:Din dyrlæge indsamler hårrødder eller en blodprøve.

      📄 Download indsendelsesformular:Download den udskrivbare indsendelsesformular.

      📮 Send prøver:Send dine prøver med almindelig post eller ekspreslevering til:

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

      📄 Modtag resultater:Modtag dit resultatcertifikat via e-mail.

      Ofte stillede spørgsmålOfte stillede spørgsmål

      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 ProfessionalsFor 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.

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