Turnaround time
10 workdays
48.4
40
DNA test for the PSMB7 c.146T>G variant that can produce the harlequin pattern in Great Danes when combined with merle and dark pigment.
Overview
This genetic test analyses the PSMB7 variant c.146T>G at the H locus in Great Danes. The trait is known as harlequin, Harlequin, H locus and harlequin coat pattern. The H locus acts as a modifier of merle and changes dark merle patches into a typical pattern with a light or white base and irregular black or dark patches.
The harlequin pattern becomes visible when the H variant is combined with a suitable merle background and enough dark pigment. Without merle, the H variant can remain visually hidden. Other coat-colour genes, such as E locus, B locus, D locus, S locus and A locus, also influence how clearly the pattern is expressed.
The H variant acts as an autosomal dominant pattern modifier, but two copies are described as embryonic lethal. A dog with N/N does not carry the H variant, N/H carries one copy and can show harlequin when the right merle and pigment context is present, while H/H is normally not expected in living puppies.
Included subanalyses
This analysis includes the following subanalysis:
Allele combinations & result interpretations
Below, for each tested locus, you will find the possible allele combinations that may be reported within this analysis, together with a brief explanation of their genetic meaning. The interpretation of possible interactions between different loci is included in the report, but is not shown here in full because that would lead to too many combinations on this page. The final expression may also depend on other genes and their interaction.
Genotype / allele combination: H variant not detected (N/N)
This genotype contains no copy of the PSMB7 c.146T>G H variant. The dog cannot pass on or show harlequin through this variant; merle without H can still be visible as merle.
Genotype / allele combination: Harlequin carrier (N/H)
This genotype contains one copy of the PSMB7 c.146T>G H variant. Combined with merle and dark pigment, it can produce the harlequin pattern; the dog can pass the H variant to offspring.
Genotype / allele combination: Two copies - embryonic lethal expected (H/H)
This genotype contains two copies of the PSMB7 c.146T>G H variant. H/H is described as embryonic lethal and is normally not expected in living puppies; such a result requires careful confirmation.
Sampling and submission guidelines





References