Produktformular

Leopard / ERU & CSNB

Name: Leopard / ERU & CSNB
Brand: Equigerminal
Price: 43.05 EUR

DNA-testen verificerer tilstedeværelsen af det dominerende LP-gen. LP-genet er forbundet med høj risiko for recidiverende uveitis hos heste (ERU) og...

€43.05 Inkl. moms

Om testen

Denne DNA-test bekræfter tilstedeværelsen af detdominante Leopard Complex (LP) gen, som er ansvarligt for Appaloosaens plettede pelsmønster.

LP-genvarianten er også forbundet med en øget risiko forrecidiverende uveitis (ERU)ogkongenit stationær natteblindhed (CSNB).

Hvorfor teste?

Denne gentest hjælper opdrættere med at identificere heste, der bærer LP-genet, hvilket muliggør informerede avlsbeslutninger og forudsigelse af pelsfarve.

Testen giver også værdifuld information om den genetiske risiko for at udvikle Equine Recurrent Uveitis (ERU)og Congenital Stationary Night Blindness (CSNB), især hos homozygote heste.

Kliniske tegn

No copy: no leopard complex pattern.

One or two copies: a leopard complex horse. The signs most often seen:

White around the coloured part of the eye
Striped hooves
Mottled skin, pink with dark patches, around the eyes, muzzle, anus and genitals
Varnish roan: the coat loses colour with age, except over the bony parts of the face, hips and lower legs
White areas on the body, from a small blanket over the hips to a nearly white horse

One copy: usually many oval coloured spots inside the white, the classic leopard spots.

Two copies: few or no spots inside the white, as in the few-spot and snowcap patterns.

Night blindness (CSNB). The horse sees poorly in dim light and in the dark. The problem is present from birth and does not get worse.

Recurrent uveitis (ERU). Repeated inflammation inside the eye, which over time can damage sight. Watch for a sore, watery or cloudy eye.

Transmission

LP is incompletely dominant. One copy is enough for the pattern, and a second copy changes it. Night blindness needs two copies, one from each parent. 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 LP/N gives 50% N/N, 50% LP/N: no night-blind foals
N/N x LP/LP gives 100% LP/N: every foal leopard complex, none night blind
LP/N x LP/N gives 25% N/N, 50% LP/N, 25% LP/LP: one foal in four night blind
LP/N x LP/LP gives 50% LP/N, 50% LP/LP: one foal in two night blind
LP/LP x LP/LP gives 100% LP/LP: every foal night blind

Forebyggelse

Preventing night-blind foals. Mate a leopard complex horse only with a partner that tested negative.

Looking after a night-blind horse. Take extra care when handling, turning out or travelling in poor light, and ask your veterinarian for advice.

Watching for uveitis. Ask your veterinarian to include the eyes in routine checks of every leopard complex horse. Have any eye problem seen promptly. Treatment decisions belong to your veterinarian.

Colour should not be the only thing that decides a mating. Other health traits, conformation and temperament are not read here.

Resultater

DNA-testen verificerer tilstedeværelsen af det dominerende LP-gen (benævnt LP) og præsenterer resultater som et af følgende:

N/-Negativ for LP.Fravær af det dominante LP-gen, ikke-plettet hest. Lavere risiko for at udvikle Equine Recurrent Uveitis (ERU) og Congenital N/ Stationary Night Blindness (CSNB) associeret med Leopard.
LP/N- Positiv heterozygot for LP.Tilstedeværelse af én kopi af det ufuldstændige dominante LP-gen, der er ansvarlig for plettet pels (Appaloosa pelsmønster). Heste har høj risiko for at udvikle Equine Recurrent Uveitis (ERU). Hesten kan videregive LP-genet til 50% af dens afkom ved avl.
LP/-Positiv homozygot for LP. Tilstedeværelse af to kopier af det ufuldstændige dominante LP-gen, der er ansvarlig for plettet pels (Appaloosa pelsmønster). Desuden har heste højeste risiko for at udvikle Equine Recurrent Uveitis (ERU) og Congenital Stationary Night Blindness (CSNB). Hesten vil LP/LP videregive LP-genet til 100% af dens afkom. Risiko for ERU associeret med LP evalueres LP/LP > LP/N > N

Krav til prøver

30 til 40 - hårrødder - kuvert eller 5 ml - blod - K3 EDTA-glas

Behandlingstid

2 til 5 arbejdsdage

Sådan fungerer det

🛒 Koop de test: kies de test en koop hem online.

📧 Ontvang de instructies: na bevestiging van de betaling ontvangt u de instructies voor het afnemen van het monster per e-mail.

📄 Vul het formulier in: print het inzendformulier en vul het in met de identificatie van het dier.

✨ Neem het monster af: trek 20 tot 40 haren met wortel (bulbus) uit en plak ze in het gemarkeerde vak op het formulier, of laat uw dierenarts bloed afnemen in een K3-EDTA-buis.

📮 Stuur het naar het laboratorium: Equigerminal, S.A., HIESE, Rua da Quinta do Sobreiro, 25, Quinta Vale do Espinhal, 3230-343 Penela, PORTUGAL.

📊 Ontvang het rapport: het gecertificeerde rapport wordt uitgegeven zodra de analyse is gevalideerd.

Ofte stillede spørgsmål

Hvilke prøver kan indsendes?

Testen kan udføres ved hjælp af30-40 hårrøddereller 5 ml blod opsamlet i et K3 EDTA-rør.

Hvad kontrollerer LP-genet?

LP-genet er ansvarligt for Leopard Complex (Appaloosa)-pletmønsteret og er forbundet med en øget genetisk risiko for Equine Recurrent Uveitis (ERU) og Congenital Stationary Night Blindness (CSNB).

Kan heste med en enkelt kopi af LP-genet udvikle sygdom?

Ja. Heste med en enkelt kopi (LP/N) har en øget risiko for at udvikle Equine Recurrent Uveitis (ERU), selvom den højeste risiko forekommer hos LP/LP-heste.

Hvilke heste udvikler Congenital Stationary Night Blindness (CSNB)?

CSNB forekommer hos heste, der er homozygote (LP/LP)for Leopard Complex-genet.

Hvor lang tid tager det at modtage resultaterne?

Resultaterne er tilgængelige inden for 2 til 5 arbejdsdageefter prøvens ankomst til laboratoriet.

For Professionals

Genetic and clinical detail for veterinarians, geneticists and laboratories.

Gene / locus: TRPM1 (transient receptor potential cation channel subfamily M member 1), Leopard complex (LP) locus, ECA1. TRPM1 is used in pigment cells and in the retina, so the variant affects both coat and night vision.
Variant: insertion of a 1,378-bp retroviral sequence in TRPM1 (Bellone et al., 2013). HGVS (EquCab3.0): NC_009144.3:g.109211964_109211965insN[1378]. Found in all 511 horses tested in the discovery study (Bellone et al., 2013).
Alternative designations: LP, Lp. Associated phenotype: congenital stationary night blindness (CSNB).
Variant identifiers: no rs/EVA identifier listed in OMIA; OMIA variant 725.
Variant classification: not currently evaluated (ISAG/AVCG, per OMIA).
Inheritance: autosomal incomplete dominant for the pattern (OMIA code AID); CSNB autosomal recessive (LP/LP only).
Penetrance / expressivity: all 10 LpLp Appaloosas had CSNB, none of 10 Lplp or 10 lplp; LpLp and Lplp horses had smaller corneal diameters than lplp (Sandmeyer et al., 2007). Amount of white is modified by PATN1 and other loci.
Breeds with documented carriers or cases: leopard complex breeds including Appaloosa, Knabstrupper, Miniature Horse, British Spotted Pony and Pony of the Americas (Holl et al., 2016; Sandmeyer et al., 2007). Association with the pattern confirmed in seven breeds (Bellone et al., 2013). A Polish study found LP in Malopolska horses, Felin ponies and Shetland ponies.
Uveitis data: ERU in 14% of 145 Appaloosas in Canada; LP/LP horses had about 19 times the odds of ERU of N/N horses and about 6 times the odds of LP/N horses (Sandmeyer et al., 2020). ERU in 20.7% of Knabstruppers (Kingsley et al., 2023).
Clinical / diagnostic notes for veterinarians: LP/LP predicts CSNB; confirmation is by full-field electroretinography: affected horses show abnormal scotopic responses with markedly reduced scotopic flicker, and altered photopic a- and b-wave parameters (Sandmeyer et al., 2007). LP is associated with equine recurrent uveitis in Appaloosas, possibly with a PATN1 contribution; the role of LP in ERU is not fully resolved (Rockwell et al., 2020). ERU diagnosis remains clinical and ophthalmological. CSNB without LP has been described in a Tennessee Walking Horse with a GRM6 missense variant (XM_001916934.4:c.533C>T; Hack et al., 2021), which this test does not detect.

Key references:

Bellone RR, Holl H, Setaluri V, et al. (2013). Evidence for a retroviral insertion in TRPM1 as the cause of congenital stationary night blindness and leopard complex spotting in the horse. PLoS One 8:e78280. doi:10.1371/journal.pone.0078280. PMID 24167615.
Sandmeyer LS, Breaux CB, Archer S, Grahn BH (2007). Clinical and electroretinographic characteristics of congenital stationary night blindness in the Appaloosa and the association with the leopard complex. Vet Ophthalmol 10:368-375. doi:10.1111/j.1463-5224.2007.00572.x.
Sandmeyer LS, et al. (2020). Vet Ophthalmol. doi:10.1111/vop.12749.
Kingsley NB, et al. (2023). Equine Vet J. doi:10.1111/evj.13879.
Rockwell H, et al. (2020). Genetic investigation of equine recurrent uveitis in Appaloosa horses. Anim Genet. doi:10.1111/age.12883.
Holl HM, Brooks SA, Archer S, et al. (2016). Variant in the RFWD3 gene associated with PATN1, a modifier of leopard complex spotting. Anim Genet 47:91-101.
Hack YL, et al. (2021). Whole-genome sequencing identifies missense mutation in GRM6 as the likely cause of congenital stationary night blindness in a Tennessee Walking Horse. Equine Vet J 53:316-323. doi:10.1111/evj.13318. PMID 32654228.