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Generic Phene Data
Breeds
Relevance Rating: The test is unknown, there is no evidence (i.e. research) available, or it has not been evaluated yet. These tests may or may not be meaningful for these breeds
GTPs
General
Disease Name
Myotonia Congenita
Mutation
c.2665insA
Mutation 2
c.803C>T
Test Type
Genetic Disease/Disorder
Details
Myotonia is a genetic muscle disorder characterized by slow relaxation of skeletal muscles. Signs include: stiff gait, skeletal muscle hypertrophy, difficulty swallowing, difficulty standing up/rising, increased respiratory sounds, generalised stiffness, and increased salivation. Age of onset 2-3 months of age. Signs can vary somewhat by breed/type.
Details 2
Heritable myotonia is a genetic muscle disorder characterized by slow relaxation of skeletal muscles. The main clinical signs are skeletal muscle stiffness, especially after vigorous contraction, and muscle hypertrophy. Muscle stiffness may be enhanced by inactivity, and often is relieved by exercise. (From Finnigan et al, 2007)
Published
Finnigan, DF., Hanna, WJ., Poma, R., Bendall, AJ. : A novel mutation of the CLCN1 gene associated with myotonia hereditaria in an Australian cattle dog. J Vet Intern Med 21:458-63, 2007. Pubmed reference: 17552451.
Breed Specific Data
Zoolyx
GTP
GTP Name
Zoolyx
OMIA
Gene Name
CLCN1
Mutation
c.803C>T
Wisdom Health (formerly Mars Veterinary)
GTP Name
Wisdom Health (formerly Mars Veterinary)
OMIA
GTP Disease Name
Muscular Hypertrophy
GTP Disease Synonym
Myotonia Congenita (Schnauzer Type)
Gene Name
CLCN1
Mutation
c.803C>T
Nature of test
mutation test
GTP- or Breed-Specific Publications
Rhodes, T.H., Vite, C.H., Giger, U., Patterson, D.F., Fahlke, C., George, A.L. : A missense mutation in canine ClC-1 causes recessive myotonia congenita in the dog FEBS Letters 456:54-58, 1999. Pubmed
Application in the Breed
Carriers may be bred to normal animals (N/mc x N/N). Offspring should be tested before breeding. No breeding of two carriers (N/mc x N/mc) nor of affected animals (mc/mc). Stiffness when moving, severe overgrowth of the muscles. Predominant signs: stiff gait, skeletal muscle hypertrophy, difficulty swallowing, and increased salivation ( 2-3 months of age)
Inheritance
AR
FCI Number
183
GTP Breed
Miniature Schnauzer/ Black
VHL Genetics
GTP
GTP Name
VHL Genetics
OMIA
Gene Name
CLCN1
Mutation
c.803C>T
Progènes-ADN
GTP
GTP Name
Progenes ADN
OMIA
Gene Name
CLCN1
Mutation
c.803C>T
PharmaDNA
GTP
GTP Name
PharmaDNA
OMIA
Gene Name
CLCN1
Mutation
c.803C>T
Paw Print Genetics
GTP Name
Paw Print Genetics
OMIA
GTP Disease Name
Muscular Hypertrophy
GTP Disease Synonym
Myotonia Congenita (Schnauzer Type)
Gene Name
CLCN1
Mutation
c.803C>T
Nature of test
mutation test
FCI Number
183
GTP Breed
Miniature Schnauzer/ Black
Laboklin Gmbh & Co. KG
GTP Name
Laboklin Gmbh & Co. KG
OMIA
GTP Disease Name
Muscular Hypertrophy
GTP Disease Synonym
Myotonia Congenita (Schnauzer Type)
Gene Name
CLCN1
Mutation
c.803C>T
Nature of test
mutation test
GTP- or Breed-Specific Publications
Rhodes, T.H., Vite, C.H., Giger, U., Patterson, D.F., Fahlke, C., George, A.L. : A missense mutation in canine ClC-1 causes recessive myotonia congenita in the dog FEBS Letters 456:54-58, 1999. Pubmed
Application in the Breed
Carriers may be bred to normal animals (N/mc x N/N). Offspring should be tested before breeding. No breeding of two carriers (N/mc x N/mc) nor of affected animals (mc/mc). Stiffness when moving, severe overgrowth of the muscles. Predominant signs: stiff gait, skeletal muscle hypertrophy, difficulty swallowing, and increased salivation ( 2-3 months of age)
Inheritance
AR
FCI Number
183
GTP Breed
Miniature Schnauzer/ Black
Laboratorios Labocor S.L.
GTP Name
Laboratorios Labocor S.L.
OMIA
Gene Name
CLCN1
Mutation
c.803C>T
INNO
GTP
GTP Name
INNO
OMIA
Gene Name
CLCN1
Mutation
c.803C>T
Genoscoper Laboratories Oy
GTP Name
Genoscoper Laboratories Oy
OMIA
GTP Disease Name
Muscular Hypertrophy
GTP Disease Synonym
Myotonia Congenita (Schnauzer Type)
Gene Name
CLCN1
Mutation
c.803C>T
Nature of test
mutation test
GTP- or Breed-Specific Publications
Rhodes, T.H., Vite, C.H., Giger, U., Patterson, D.F., Fahlke, C., George, A.L. : A missense mutation in canine ClC-1 causes recessive myotonia congenita in the dog FEBS Letters 456:54-58, 1999. Pubmed
Application in the Breed
Carriers may be bred to normal animals (N/mc x N/N). Offspring should be tested before breeding. No breeding of two carriers (N/mc x N/mc) nor of affected animals (mc/mc). Stiffness when moving, severe overgrowth of the muscles. Predominant signs: stiff gait, skeletal muscle hypertrophy, difficulty swallowing, and increased salivation ( 2-3 months of age)
Inheritance
AR
FCI Number
183
GTP Breed
Miniature Schnauzer/ Black
Genomia s.r.o
GTP
GTP Name
Genomia s.r.o
OMIA
GTP Disease Name
Muscular Hypertrophy
GTP Disease Synonym
Myotonia Congenita (Schnauzer Type)
Gene Name
CLCN1
Mutation
c.803C>T
Nature of test
mutation test
Embark
GTP
GTP Name
Embark
OMIA
GTP Disease Name
Muscular Hypertrophy
GTP Disease Synonym
Myotonia Congenita (Schnauzer Type)
Gene Name
CLCN1
Mutation
c.803C>T
Nature of test
mutation test
GTP- or Breed-Specific Publications
Rhodes, T.H., Vite, C.H., Giger, U., Patterson, D.F., Fahlke, C., George, A.L. : A missense mutation in canine ClC-1 causes recessive myotonia congenita in the dog FEBS Letters 456:54-58, 1999. Pubmed
Application in the Breed
Carriers may be bred to normal animals (N/mc x N/N). Offspring should be tested before breeding. No breeding of two carriers (N/mc x N/mc) nor of affected animals (mc/mc). Stiffness when moving, severe overgrowth of the muscles. Predominant signs: stiff gait, skeletal muscle hypertrophy, difficulty swallowing, and increased salivation ( 2-3 months of age)
Inheritance
AR
FCI Number
183
GTP Breed
Miniature Schnauzer/ Black
CMSCH
GTP
GTP Name
CMSCH
OMIA
Gene Name
CLCN1
Mutation
c.803C>T
Certagen GmbH
GTP
GTP Name
Certagen GmbH
OMIA
Gene Name
CLCN1
Mutation
c.803C>T
CAG GmbH Center for Animal Genetics
GTP Name
Center for Animal Genetics
OMIA
GTP Disease Name
Muscular Hypertrophy
GTP Disease Synonym
Myotonia Congenita (Schnauzer Type)
Gene Name
CLCN1
Mutation
c.803C>T
Nature of test
mutation test
GTP- or Breed-Specific Publications
Rhodes, T.H., Vite, C.H., Giger, U., Patterson, D.F., Fahlke, C., George, A.L. : A missense mutation in canine ClC-1 causes recessive myotonia congenita in the dog FEBS Letters 456:54-58, 1999. Pubmed
Application in the Breed
Carriers may be bred to normal animals (N/mc x N/N). Offspring should be tested before breeding. No breeding of two carriers (N/mc x N/mc) nor of affected animals (mc/mc). Stiffness when moving, severe overgrowth of the muscles. Predominant signs: stiff gait, skeletal muscle hypertrophy, difficulty swallowing, and increased salivation ( 2-3 months of age)
Inheritance
AR
FCI Number
183
GTP Breed
Miniature Schnauzer/ Black
BioBank AS
GTP
GTP Name
BioBank AS
OMIA
Gene Name
CLCN1
Mutation
c.803C>T
Antagene
GTP
GTP Name
Antagene
OMIA
GTP Disease Name
Muscular Hypertrophy
GTP Disease Synonym
Myotonia Congenita (Schnauzer Type)
Gene Name
CLCN1
Mutation
c.803C>T
Nature of test
mutation test
GTP- or Breed-Specific Publications
Rhodes, T.H., Vite, C.H., Giger, U., Patterson, D.F., Fahlke, C., George, A.L. : A missense mutation in canine ClC-1 causes recessive myotonia congenita in the dog FEBS Letters 456:54-58, 1999. Pubmed
Application in the Breed
Carriers may be bred to normal animals (N/mc x N/N). Offspring should be tested before breeding. No breeding of two carriers (N/mc x N/mc) nor of affected animals (mc/mc). Stiffness when moving, severe overgrowth of the muscles. Predominant signs: stiff gait, skeletal muscle hypertrophy, difficulty swallowing, and increased salivation ( 2-3 months of age)
Inheritance
AR
FCI Number
183
GTP Breed
Miniature Schnauzer/ Black
Anicom
GTP
GTP Name
Anicom
OMIA
GTP Disease Name
Muscular Hypertrophy
Gene Name
CLCN1
Mutation
c.803C>T
Agrotis S.r.l.
GTP
GTP Name
Agrotis S.r.l.
OMIA
Gene Name
CLCN1
Mutation
c.803C>T
