Coat Colour H-locus (Harlequin)
Breed: Great Dane
Generic Phene Data
Breeds
Relevance Rating: There is moderate evidence or research available in this breed
Relevance Rating: There is some evidence or research available in this breed
General
Disease Name
Coat Colour H-locus (Harlequin)
Mutation
c.146T>G
Mutation 2
p.V6G
Details
Harlequin coat pattern in Great Danes is influenced by the PSMB7 gene, also known as H-Locus. Harlequin is a pattern resulting from interaction of the Merle (M-locus) gene and the Harlequin (H-locus) gene on black pigment. The Harlequin pattern is only expressed if a dog has at least one copy of the M allele in combination with at least one copy of the E or Em allele on the E-locus. If a Merle dog also inherits one copy of the Harlequin gene, the dark spots increase in size and the background pigment is removed (turns white). The result is the characteristic "torn" spots as opposed as the round spots on a Dalmatian. The coat pattern starts to become apparent within a few hours after birth, to full expression several weeks after birth. Please note, that the Harlequin mutation in Great Danes is in homozygous state (two copies of the mutation) considered embryonic lethal as no live dogs with two copies of the mutation have been observed. Many registration bodies and Breed Clubs ban or discourage any matings between Harlequin x Harlequin dogs for this reason.
Details 2
Harlequin coat pattern in Great Danes is influenced by the PSMB7 gene, also known as H-Locus. Harlequin is a pattern resulting from interaction of the Merle (M-locus) gene and the Harlequin (H-locus) gene on black pigment. The Harlequin pattern is only expressed if a dog has at least one copy of the M allele in combination with at least one copy of the E or Em allele on the E-locus. If a Merle dog also inherits one copy of the Harlequin gene, the dark spots increase in size and the background pigment is removed (turns white). The result is the characteristic "torn" spots as opposed as the round spots on a Dalmatian. The coat pattern starts to become apparent within a few hours after birth, to full expression several weeks after birth.
Published
Clark, LA., Tsai, KL., Starr, AN., Nowend, KL., Murphy, KE. : A missense mutation in the 20S proteasome ?2 subunit of Great Danes having harlequin coat patterning. Genomics 97:244-8, 2011. Pubmed reference: 21256207. DOI: 10.1016/j.ygeno.2011.01.003
Breed Specific Info
Researched Breeds
Great Dane
Breed Specific Data
Zoolyx
GTP
GTP Name
Zoolyx
Breed
Gene Name
PSMB7
Mutation
c.146T>G; p.V6G
Progènes-ADN
GTP
GTP Name
Progenes ADN
Breed
Gene Name
PSMB7
Mutation
c.146T>G; p.V6G
PharmaDNA
GTP
GTP Name
PharmaDNA
Breed
Gene Name
PSMB7
Mutation
c.146T>G; p.V6G
Paw Print Genetics
GTP Name
Paw Print Genetics
Breed
Gene Name
PSMB7
Mutation
c.146T>G; p.V6G
Nature of test
mutation test
FCI Number
235
GTP Breed
Great Dane
Orivet Genetic Pet Care
GTP Name
Orivet Genetic Pet Care
Breed
Gene Name
PSMB7
Mutation
c.146T>G
Nature of test
mutation test
FCI Number
235
GTP Breed
Great Dane
Laboklin Gmbh & Co. KG
GTP Name
Laboklin Gmbh & Co. KG
Breed
Gene Name
PSMB7
Mutation
c.146T>G; p.V6G
Nature of test
mutation test
FCI Number
235
Laboratorios Labocor S.L.
GTP Name
Laboratorios Labocor S.L.
Breed
Gene Name
PSMB7
Mutation
c.146T>G; p.V6G
INNO
GTP
GTP Name
INNO
Breed
Gene Name
PSMB7
Mutation
c.146T>G; p.V6G
DNA My Dog
GTP
GTP Name
DNA My Dog
Breed
Gene Name
PSMB7
Mutation
c.146T>G
Nature of test
mutation test
This test is outsourced to:
Orivet
FCI Number
235
GTP Breed
Great Dane
CMSCH
GTP
GTP Name
CMSCH
Breed
Gene Name
PSMB7
Mutation
c.146T>G; p.V6G
Certagen GmbH
GTP
GTP Name
Certagen GmbH
Breed
Gene Name
PSMB7
Mutation
c.146T>G; p.V6G
CAG GmbH Center for Animal Genetics
GTP Name
Center for Animal Genetics
Breed
Gene Name
PSMB7
Mutation
c.146T>G
Nature of test
mutation test
FCI Number
235
GTP Breed
Great Dane
BioBank AS
GTP
GTP Name
BioBank AS
Breed
Gene Name
PSMB7
Mutation
c.146T>G; p.V6G
Agrotis S.r.l.
GTP
GTP Name
Agrotis S.r.l.
Breed
Gene Name
PSMB7
Mutation
c.146T>G; p.V6G
VHL Genetics
GTP
GTP Name
VHL Genetics
Breed
Gene Name
PSMB7
Mutation
c.146T>G; p.V6G