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Myotonia Congenita
Breed: Border Collie
Generic Phene Data
Breeds
Relevance Rating: There is some evidence or research available for these 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
General
Disease Name
Myotonia Congenita
OMIA
698
Gene Name
CLCN1
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.
Published 2
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 reference: 10452529.
Body/System/Process
Muscular
OMIA Url
Inheritance
AR
Breed Specific Info
Researched Breeds
Australian Cattle Dog, Chow, Great Dane, Miniature Schnauzer, Staffordshire Bull Terrier
HSP Test-Specific Data
Agrotis S.r.l.
GTP
GTP Name
Agrotis S.r.l.
Breed
OMIA
Gene Name
CLCN1
Mutation
c.2665insA
Anicom Specialty Medical Institute Inc.
GTP
GTP Name
Anicom
Breed
OMIA
GTP Disease Name
Muscular Hypertrophy
Gene Name
CLCN1
Mutation
c.2665insA
BioBank AS
GTP
GTP Name
BioBank AS
Breed
OMIA
Gene Name
CLCN1
Mutation
c.2665insA
Certagen GmbH
GTP
GTP Name
Certagen GmbH
Breed
OMIA
Gene Name
CLCN1
Mutation
c.2665insA
CMSCH
GTP
GTP Name
CMSCH
Breed
OMIA
Gene Name
CLCN1
Mutation
c.2665insA
Genomia s.r.o
GTP
GTP Name
Genomia s.r.o
Breed
OMIA
GTP Disease Synonym
MC
Gene Name
CLCN1
Mutation
c.2647_2648insA
Mutation Comment
g.6344748_6344749insT
INNO
GTP
GTP Name
INNO
Breed
OMIA
Gene Name
CLCN1
Mutation
c.2665insA
Laboratorios Labocor S.L.
GTP
GTP Name
Laboratorios Labocor S.L.
Breed
OMIA
Gene Name
CLCN1
Mutation
c.2665insA
Paw Print Genetics
GTP
GTP Name
Paw Print Genetics
Breed
OMIA
GTP Disease Name
Muscular Hypertrophy
GTP Disease Synonym
Myotonia Congenita (Australian Cattle Dog Type)
Gene Name
CLCN1
Mutation
c.2665insA
Nature of test
mutation test
FCI Number
297
PharmaDNA
GTP
GTP Name
PharmaDNA
Breed
OMIA
Gene Name
CLCN1
Mutation
c.2665insA
Progènes-ADN
GTP
GTP Name
Progenes ADN
Breed
OMIA
Gene Name
CLCN1
Mutation
c.2665insA
VHL Genetics
GTP
GTP Name
VHL Genetics
Breed
OMIA
Gene Name
CLCN1
Mutation
c.2665insA
Wisdom Panel - Kinship
GTP
GTP Name
Wisdom Panel - Kinship
Breed
OMIA
GTP Disease Name
Muscular Hypertrophy
GTP Disease Synonym
Myotonia Congenita (Australian Cattle Dog Type)
Gene Name
CLCN1
Mutation
c.2665insA
Nature of test
mutation test
GTP- or Breed-Specific Publications
Donner, J., Kaukonen, M., Anderson, H., Móller, F., Kyóstilä, K., Sankari, S., Hytónen, M., Giger, U., Lohi, H. : Genetic Panel Screening of Nearly 100 Mutations Reveals New Insights into the Breed Di
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
297
GTP Breed
Border Collie
Zoolyx
GTP
GTP Name
Zoolyx
Breed
OMIA
Gene Name
CLCN1
Mutation
c.2665insA
AnimaLabs
GTP
GTP Name
AnimaLabs
Breed
OMIA
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