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Myotonia Congenita

Breed: Border Collie

Generic Phene Data

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

PharmaDNA

GTP
GTP Name
PharmaDNA
Gene Name
CLCN1
Mutation
c.2665insA

Progènes-ADN

GTP Name
Progenes ADN
Gene Name
CLCN1
Mutation
c.2665insA

VHL Genetics

GTP Name
VHL Genetics
Gene Name
CLCN1
Mutation
c.2665insA

Wisdom Health (formerly Mars Veterinary)

GTP Name
Wisdom Health (formerly Mars Veterinary)
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
Gene Name
CLCN1
Mutation
c.2665insA

Agrotis S.r.l.

GTP Name
Agrotis S.r.l.
Gene Name
CLCN1
Mutation
c.2665insA

Anicom

GTP
GTP Name
Anicom
GTP Disease Name
Muscular Hypertrophy
Gene Name
CLCN1
Mutation
c.2665insA

BioBank AS

GTP Name
BioBank AS
Gene Name
CLCN1
Mutation
c.2665insA

CAG GmbH Center for Animal Genetics

GTP Name
Center for Animal Genetics
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

Certagen GmbH

GTP Name
Certagen GmbH
Gene Name
CLCN1
Mutation
c.2665insA

CMSCH

GTP
GTP Name
CMSCH
Gene Name
CLCN1
Mutation
c.2665insA

Genoscoper Laboratories Oy

GTP Name
Genoscoper Laboratories Oy
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

INNO

GTP
GTP Name
INNO
Gene Name
CLCN1
Mutation
c.2665insA

Laboratorios Labocor S.L.

GTP Name
Laboratorios Labocor S.L.
Gene Name
CLCN1
Mutation
c.2665insA

Paw Print Genetics

GTP Name
Paw Print Genetics
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
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