Coat Colour Merle
Breed: Australian Shepherd
Generic Phene Data
Breeds
Relevance Rating: There is some evidence or research available for these breeds
General
Disease Name
Coat Colour Merle
OMIA
211
Gene Name
PMEL
Mutation
NC_006592.3 (327618..292595)
Mutation 2
SINE oligo(dT) insertion
Test Type
Other Genetic Traits
Details
The merle gene (in the M locus) dilutes random sections of the coat to a lighter colour (usually grey in a black-pigmented dog), leaving patches of the original colour remaining. The patches can be any size and can be located anywhere. The edges of the patches may appear "torn" unlike the rounded spots of a Dalmatian. Merle affects only eumelanin, meaning that any black, liver, blue or isabella in the coat, eyes or nose will be merled, whether it's the whole of the body or in patches. Phaeomelanin (red) is not affected at all and will appear as normal. Merle is dominant, meaning all "normal" merles are heterozygous (Mm). A homozygous merle is actually a "double" merle (MM), which can result in serious health issues. Including deafness, blindness, sun sensitivity and skin cancer. For this reason two merles should never be bred together, as this will result in some double merle puppies. In many countries, these matings are banned from registration. As reported by Clark et al. (2006)(citing Sorsby and Davey (1954), "Dogs having Mm and MM genotypes typically have blue eyes and often exhibit a wide range of auditory and ophthalmologic abnormalities" As breeding merle dogs can be very challenging in avoiding producing merle x merle puppies, it is especially important to take breeding advice.
Details 2
The merle gene (in the M locus) dilutes random sections of the coat to a lighter colour (usually grey in a black-pigmented dog), leaving patches of the original colour remaining. The patches can be any size and can be located anywhere. The edges of the patches may appear "torn" unlike the rounded spots of a Dalmatian. Merle affects only eumelanin, meaning that any black, liver, blue or isabella in the coat, eyes or nose will be merled, whether it's the whole of the body or in patches. Phaeomelanin (red) is not affected at all and will appear as normal. Merle is dominant, meaning all "normal" merles are heterozygous (Mm). A homozygous merle is actually a "double" merle (MM), which can result in serious health issues. Including deafness, blindness, sun sensitivity and skin cancer. For this reason two merles should never be bred together, as this will result in some double merle puppies. As reported by Clark et al. (2006)(citing Sorsby and Davey (1954), "Dogs having Mm and MM genotypes typically have blue eyes and often exhibit a wide range of auditory and ophthalmologic abnormalities"
Published
Clark, LA., Wahl, JM., Rees, CA., Murphy, KE. : From The Cover: Retrotransposon insertion in SILV is responsible for merle patterning of the domestic dog. Proc Natl Acad Sci U S A 103:1376-81, 2006. Pubmed reference: 16407134. DOI: 10.1073/pnas.0506940103.
Published 2
Hedan, B., Corre, S., Hitte, C., Dreano, S., Vilboux, T., Derrien, T., Denis, B., Galibert, F., Galibert, MD., Andre, C. : Coat colour in dogs: identification of the merle locus in the Australian shepherd breed. BMC Vet Res 2:9, 2006. Pubmed reference: 16504149. DOI: 10.1186/1746-6148-2-9.
Published 3
Strain, GM., Clark, LA., Wahl, JM., Turner, AE., Murphy, KE. : Prevalence of deafness in dogs heterozygous or homozygous for the merle allele. J Vet Intern Med 23:282-6, 2009. Pubmed reference: 19192156. DOI: 10.1111/j.1939-1676.2008.0257.x.
Body/System/Process
Coat Colour/Pattern/Type
OMIA Url
Inheritance
ADIP
HSP Test-Specific Data
Laboratorios Labocor S.L.
GTP
GTP Name
Laboratorios Labocor S.L.
Breed
OMIA
Gene Name
PMEL
Mutation
NC_006592.3 (327618..292595); SINE oligo(dT) insertion
Certagen GmbH
GTP
GTP Name
Certagen GmbH
Breed
OMIA
Gene Name
PMEL
Mutation
NC_006592.3 (327618..292595); SINE oligo(dT) insertion
VHL Genetics
GTP
GTP Name
VHL Genetics
Breed
OMIA
Gene Name
PMEL
Mutation
NC_006592.3 (327618..292595); SINE oligo(dT) insertion
Zoolyx
GTP
GTP Name
Zoolyx
Breed
OMIA
Gene Name
PMEL
Mutation
NC_006592.3 (327618..292595); SINE oligo(dT) insertion
Veterinary Genetics Laboratory
GTP
GTP Name
Veterinary Genetics Laboratory
Breed
OMIA
GTP Disease Name
M Locus (Merle)
Gene Name
PMEL
Mutation
NC_006592.3 (327618..292595)
Nature of test
mutation test
GTP- or Breed-Specific Publications
Clark, LA., Wahl, JM., Rees, CA., Murphy, KE. From The Cover: Retrotransposon insertion in SILV is responsible for merle patterning of the domestic dog. Proc Natl Acad Sci U S A 103:1376-81, 2006. Pubmed reference: 16407134. DOI: 10.1073/pnas.0506940103.
FCI Number
-20
GTP Breed
ALL
CMSCH
GTP
GTP Name
CMSCH
Breed
OMIA
Gene Name
PMEL
Mutation
NC_006592.3 (327618..292595); SINE oligo(dT) insertion
GenSol Diagnostics
GTP
GTP Name
GenSol Diagnostics
Breed
OMIA
GTP Disease Name
M Locus (Merle)
Gene Name
PMEL
Mutation
SINE oligo(dT) insertion
GTP- or Breed-Specific Publications
Clark, LA., Wahl, JM., Rees, CA., Murphy, KE. From The Cover: Retrotransposon insertion in SILV is responsible for merle patterning of the domestic dog. Proc Natl Acad Sci U S A 103:1376-81, 2006. Pubmed reference: 16407134. DOI: 10.1073/pnas.0506940103.
Progènes-ADN
GTP
GTP Name
Progenes ADN
Breed
OMIA
Gene Name
PMEL
Mutation
NC_006592.3 (327618..292595); SINE oligo(dT) insertion
Antagene
GTP
GTP Name
Antagene
Breed
OMIA
GTP Disease Name
M Locus (Merle)
Gene Name
PMEL
Mutation
NC_006592.3 (327618..292595)
Nature of test
mutation test
FCI Number
-20
GTP Breed
ALL
Paw Print Genetics
GTP
GTP Name
Paw Print Genetics
Breed
OMIA
GTP Disease Name
M Locus (Merle)
Gene Name
PMEL
Mutation
NC_006592.3 (327618..292595)
Nature of test
mutation test
FCI Number
-20
PharmaDNA
GTP
GTP Name
PharmaDNA
Breed
OMIA
Gene Name
PMEL
Mutation
NC_006592.3 (327618..292595); SINE oligo(dT) insertion
INNO
GTP
GTP Name
INNO
Breed
OMIA
Gene Name
PMEL
Mutation
NC_006592.3 (327618..292595); SINE oligo(dT) insertion
Wisdom Panel - Kinship
GTP
GTP Name
Wisdom Panel - Kinship
Breed
OMIA
GTP Disease Name
M Locus (Merle)
Gene Name
PMEL
Mutation
NC_006592.3 (327618..292595)
Nature of test
mutation test
FCI Number
-20
GTP Breed
ALL
Agrotis S.r.l.
GTP
GTP Name
Agrotis S.r.l.
Breed
OMIA
Gene Name
PMEL
Mutation
NC_006592.3 (327618..292595); SINE oligo(dT) insertion
Genomia s.r.o
GTP
GTP Name
Genomia s.r.o
Breed
OMIA
GTP Disease Name
M Locus (Merle)
GTP Disease Synonym
Merle
Gene Name
SILV (PMEL17)
Mutation
SINE oligo(dT) insertion
Nature of test
mutation test
FCI Number
-20
GTP Breed
ALL
Laboklin Gmbh & Co. KG
GTP
GTP Name
Laboklin Gmbh & Co. KG
Breed
OMIA
GTP Disease Name
M Locus (Merle)
Gene Name
PMEL
Mutation
NC_006592.3 (327618..292595)
Nature of test
mutation test
This test is outsourced to:
Laboklin SLO
FCI Number
-20
BioBank AS
GTP
GTP Name
BioBank AS
Breed
OMIA
Gene Name
PMEL
Mutation
NC_006592.3 (327618..292595); SINE oligo(dT) insertion