Breeds Affected: Quarter Horse & related breeds

Samples Accepted
: Blood, Hair

Disease Information
: Incontinentia Pigmenti (IP) may be mistaken for a color pattern because affected animals have a striped appearance resembling the brindle pattern in dogs.  Affected females develop skin lesions and also have irregular development of hooves, teeth, and eyes.

Inheritance Information: IP is X-linked dominant.  The  gene is located on the X-chromosome, and only one mutant allele is required to cause the disease.

The possible genotypes are:

XX     This horse is a normal female.

XXIP    This horse is an affected female.  She will pass the mutation (XIP) to 50% of her offspring. She can become pregnant with foals of all four genotypes: normal female (XX), affected female (XXIP), normal male (XY), and affected male (XIPY).  Affected male fetuses are not viable and are spontaneously aborted during pregnancy.

XY      This horse is a normal male.

XIPY    Horses with this genotype are not viable, and XIPY fetuses spontaneously abort during pregnancy.  No live affected male foals are possible.

Recommendations:

– To reduce the incidence of IP in a population, mares affected with IP should not be used for breeding.

Test Information: This mutation test identifies a single base change in the IKBKG gene.

Towers, R.E., Murgiano, L., Millar, D.S., Glen, E., Topf, A., Jagannathan, V., Drögemüller, C., Goodship, J.A., Clarke, A.J., Leeb, T.: A nonsense mutation in the IKBKG gene in mares with incontinentia pigmenti. PLoS One 8:e81625, 2013. Pubmed reference: 24324710. DOI: 10.1371/journal.pone.0081625.

Further information is available at the Online Mendelian Inheritance in Animals website.

Test #: H114
Cost: 35 € (excl. VAT)
Time: 7-10 days