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Musladin-Lueke Syndrome
Breed: Beagle
Generic Phene Data
Breeds
Relevance Rating: There is some evidence or research available in this breed
General
Disease Name
Musladin-Lueke Syndrome
OMIA
1509
Gene Name
ADAMTSL2
Gene Name 2
CanFam 3.1, Chr. 9
Mutation
c.660C>T
Mutation 2
g.49931561C>T
Mutation 3
c.661C>T
Test Type
Genetic Disease/Disorder
Details
Musladin-Lueke Syndrome (MLS) is a hereditary disorder affecting Beagle dogs that manifests with extensive fibrosis of the skin and joints characterized by short stature, thick, taut skin, and severely restricted joint mobility... Affected dogs also have broad skulls with wide-set slanted eyes, creased ears, a hopping, ?tip-toe? gait, and pleasant temperaments. (From Bader et al, 2010) Other reported symptoms include: occasional seizures, pain, failure to thrive and arthritis. Age of onset from birth.
Details 2
Musladin-Lueke Syndrome (MLS) is a hereditary disorder affecting Beagle dogs that manifests with extensive fibrosis of the skin and joints...The genetic basis of MLS is a founder mutation in ADAMTSL2, previously shown to interact with latent TGF-? binding protein, which binds fibrillin-1... characterized by short stature, thick, taut skin, and severely restricted joint mobility . . . Affected dogs also have broad skulls with wide-set slanted eyes, creased ears, a hopping, ?tip-toe? gait, and pleasant temperaments. (From Bader et al, 2010)
Published
Bader, HL., Ruhe, AL., Wang, LW., Wong, AK., Walsh, KF., Packer, RA., Mitelman, J., Robertson, KR., O'Brien, DP., Broman, KW., Shelton, GD., Apte, SS., Neff, MW. :An ADAMTSL2 founder mutation causes Musladin-Lueke Syndrome, a heritable disorder of beagle dogs, featuring stiff skin and joint contractures. PLoS One 5:, 2010. Pubmed reference: 20862248. DOI: 10.1371/journal.pone.0012817.
Body/System/Process
Skin
OMIA Url
Inheritance
AR
Breed Specific Info
Researched Breeds
Beagle
HSP Test-Specific Data
Agrotis S.r.l.
GTP
GTP Name
Agrotis S.r.l.
Breed
OMIA
Gene Name
ADAMTSL2
Mutation
c.660C>T
Wisdom Panel - Kinship
GTP
GTP Name
Wisdom Panel - Kinship
Breed
OMIA
GTP Disease Name
Chinese Beagle Syndrome
Gene Name
ADAMTSL2
Mutation
c.660C>T
Nature of test
mutation test
GTP- or Breed-Specific Publications
Bader, HL., Ruhe, AL., Wang, LW., Wong, AK., Walsh, KF., Packer, RA., Mitelman, J., Robertson, KR., O'Brien, DP., Broman, KW., Shelton, GD., Apte, SS., Neff, MW. :An ADAMTSL2 founder mutation causes M
Application in the Breed
Carriers may be bred to normal animals (N/mls x N/N). Offspring should be tested before breeding.No breeding of two carriers (N/mls x N/mls) nor of affected animals (mls/mls). Short stature, extremely thick, taut skin and restricted joint mobility. Eyes set wide in broad skulls, creased ears, and occasional seizures, pain. Failure to thrive and arthritis.
Inheritance
AR
FCI Number
161
GTP Breed
Beagle
Genomia s.r.o
GTP
GTP Name
Genomia s.r.o
Breed
OMIA
GTP Disease Name
Chinese Beagle Syndrome
Gene Name
ADAMTSL2
Mutation
c.661C>T
Mutation Comment
g.49931561C>T
Nature of test
mutation test
FCI Number
161
GTP Breed
Beagle
The Kennel Club
GTP
GTP Name
The Kennel Club
Breed
OMIA
GTP Disease Name
Chinese Beagle Syndrome
Gene Name
ADAMTSL2
Mutation
c.660C>T
This test is outsourced to:
Weatherby's
BioBank AS
GTP
GTP Name
BioBank AS
Breed
OMIA
Gene Name
ADAMTSL2
Mutation
c.660C>T
Veterinary Genetics Laboratory
GTP
GTP Name
Veterinary Genetics Laboratory
Breed
OMIA
GTP Disease Name
Chinese Beagle Syndrome
Gene Name
ADAMTSL2
Mutation
c.660C>T
Nature of test
mutation test
GTP- or Breed-Specific Publications
Bader HL, AL Ruhe, LW Wang et al. An ADAMTSL2 Founder Mutation Causes Musladin-Lueke Syndrome, a Heritable Disorder of Beagle Dogs, Featuring Stiff Skin and Joint Contractures. Plos One 2010, 5(9):e12817.
Application in the Breed
Carriers may be bred to normal animals (N/mls x N/N). Offspring should be tested before breeding.No breeding of two carriers (N/mls x N/mls) nor of affected animals (mls/mls). Short stature, extremely thick, taut skin and restricted joint mobility. Eyes set wide in broad skulls, creased ears, and occasional seizures, pain. Failure to thrive and arthritis.
Inheritance
AR
FCI Number
161
GTP Breed
Beagle
Laboratorios Labocor S.L.
GTP
GTP Name
Laboratorios Labocor S.L.
Breed
OMIA
Gene Name
ADAMTSL2
Mutation
c.660C>T
Certagen GmbH
GTP
GTP Name
Certagen GmbH
Breed
OMIA
Gene Name
ADAMTSL2
Mutation
c.660C>T
AnimaLabs
GTP
GTP Name
AnimaLabs
Breed
OMIA
Zoolyx
GTP
GTP Name
Zoolyx
Breed
OMIA
Gene Name
ADAMTSL2
Mutation
c.660C>T
VHL Genetics
GTP
GTP Name
VHL Genetics
Breed
OMIA
Gene Name
ADAMTSL2
Mutation
c.660C>T
Antagene
GTP
GTP Name
Antagene
Breed
OMIA
GTP Disease Name
Chinese Beagle Syndrome
Gene Name
ADAMTSL2
Mutation
c.660C>T
Nature of test
mutation test
GTP- or Breed-Specific Publications
Bader, HL., Ruhe, AL., Wang, LW., Wong, AK., Walsh, KF., Packer, RA., Mitelman, J., Robertson, KR., O'Brien, DP., Broman, KW., Shelton, GD., Apte, SS., Neff, MW. :An ADAMTSL2 founder mutation causes M
Application in the Breed
Carriers may be bred to normal animals (N/mls x N/N). Offspring should be tested before breeding.No breeding of two carriers (N/mls x N/mls) nor of affected animals (mls/mls). Short stature, extremely thick, taut skin and restricted joint mobility. Eyes set wide in broad skulls, creased ears, and occasional seizures, pain. Failure to thrive and arthritis.
Inheritance
AR
FCI Number
161
GTP Breed
Beagle
VetGen LLC
GTP
GTP Name
VetGen LLC
Breed
OMIA
Gene Name
ADAMTSL2
Mutation
c.660C>T
Paw Print Genetics
GTP
GTP Name
Paw Print Genetics
Breed
OMIA
GTP Disease Name
Chinese Beagle Syndrome
Gene Name
ADAMTSL2
Mutation
c.660C>T
Nature of test
mutation test
FCI Number
161
GTP Breed
Beagle
CMSCH
GTP
GTP Name
CMSCH
Breed
OMIA
Gene Name
ADAMTSL2
Mutation
c.660C>T
Progènes-ADN
GTP
GTP Name
Progenes ADN
Breed
OMIA
Gene Name
ADAMTSL2
Mutation
c.660C>T
Embark
GTP
GTP Name
Embark
Breed
OMIA
GTP Disease Name
Chinese Beagle Syndrome
Gene Name
ADAMTSL2
Mutation
c.660C>T
Nature of test
mutation test
GTP- or Breed-Specific Publications
Bader, HL., Ruhe, AL., Wang, LW., Wong, AK., Walsh, KF., Packer, RA., Mitelman, J., Robertson, KR., O'Brien, DP., Broman, KW., Shelton, GD., Apte, SS., Neff, MW. :An ADAMTSL2 founder mutation causes M
Application in the Breed
Carriers may be bred to normal animals (N/mls x N/N). Offspring should be tested before breeding.No breeding of two carriers (N/mls x N/mls) nor of affected animals (mls/mls). Short stature, extremely thick, taut skin and restricted joint mobility. Eyes set wide in broad skulls, creased ears, and occasional seizures, pain. Failure to thrive and arthritis.
Inheritance
AR
FCI Number
161
GTP Breed
Beagle
EVG Diagnostics
GTP
GTP Name
EVG Molecular Diagnostics
Breed
OMIA
Gene Name
ADAMTSL2
Mutation
c.660C>T
PharmaDNA
GTP
GTP Name
PharmaDNA
Breed
OMIA
Gene Name
ADAMTSL2
Mutation
c.660C>T
INNO
GTP
GTP Name
INNO
Breed
OMIA
Gene Name
ADAMTSL2
Mutation
c.660C>T
Laboklin Gmbh & Co. KG
GTP
GTP Name
Laboklin Gmbh & Co. KG
Breed
OMIA
GTP Disease Name
Chinese Beagle Syndrome
Gene Name
ADAMTSL2
Mutation
c.660C>T
Nature of test
mutation test
GTP- or Breed-Specific Publications
Bader, HL., Ruhe, AL., Wang, LW., Wong, AK., Walsh, KF., Packer, RA., Mitelman, J., Robertson, KR., O'Brien, DP., Broman, KW., Shelton, GD., Apte, SS., Neff, MW. :An ADAMTSL2 founder mutation causes M
Application in the Breed
Carriers may be bred to normal animals (N/mls x N/N). Offspring should be tested before breeding.No breeding of two carriers (N/mls x N/mls) nor of affected animals (mls/mls). Short stature, extremely thick, taut skin and restricted joint mobility. Eyes set wide in broad skulls, creased ears, and occasional seizures, pain. Failure to thrive and arthritis.
Inheritance
AR
FCI Number
161
GTP Breed
Beagle
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