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Congenital Myasthenic Syndrome - CHRNE related

Breed: Australian Cobberdog

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

General

Disease Name
Congenital Myasthenic Syndrome - CHRNE related
Mutation
c.633_634insC
Mutation 2
c.1436_1437insG
Test Type
Genetic Disease/Disorder
Details
Severe exercise-induced weakness. Age of onset from 4 weeks. Pups often sadly euthanized before 8 weeks of age.
Details 2
Congenital myasthenic syndromes (CMSs) are a group of rare genetic disorders of the neuromuscular junction resulting in structural or functional causes of fatigable weakness that usually begins early in life... CMS was first recognized in dogs in 1974 as an autosomal recessive trait in Jack Russell Terriers (JRTs). (Rinz et al 2015)
Published
Rinz, C.J., Lennon, V.A., James, F., Thoreson, J.B., Tsai, K.L., Starr-Moss, A.N., Humphries, H.D., Guo, L.T., Palmer, A.C., Clark, L.A., Shelton, G.D. : A CHRNE frameshift mutation causes congenital myasthenic syndrome in young Jack Russell Terriers. Neuromuscul Disord 25:921-7, 2015. Pubmed reference: 26429099. DOI: 10.1016/j.nmd.2015.09.005.

Breed Specific Data

Agrotis S.r.l.

GTP Name
Agrotis S.r.l.
Gene Name
CHAT
Mutation
c.622G>A

BioBank AS

GTP Name
BioBank AS
Gene Name
CHAT
Mutation
c.622G>A

Certagen GmbH

GTP Name
Certagen GmbH
Gene Name
CHAT
Mutation
c.622G>A

CMSCH

GTP
GTP Name
CMSCH
Gene Name
CHAT
Mutation
c.622G>A

DNA My Dog

GTP Name
DNA My Dog
GTP Disease Name
Congenital Myasthenic Syndrome
Gene Name
CHAT
Mutation
c.622G>A
Nature of test
mutation test
GTP- or Breed-Specific Publications
Proschowsky, HF., Flagstad, A., Cirera, S., Joergensen, CB., Fredholm, M. : Identification of a mutation in the CHAT gene of Old Danish Pointing Dogs affected with congenital myasthenic syndrome. J He
Application in the Breed
Carriers may be bred to normal animals (N/cms x N/N) . Offspring should be tested before breeding . No breeding of two carriers (N/cms x N/cms) nor of affected animals. Exercise intolerance (temporarily paralyzed) (4 months of age) - No increase in severity with age.
Inheritance
AR
This test is outsourced to:
Orivet
FCI Number
-27
GTP Breed
Australian Cobberdog

INNO

GTP
GTP Name
INNO
Gene Name
CHAT
Mutation
c.622G>A

Laboratorios Labocor S.L.

GTP Name
Laboratorios Labocor S.L.
Gene Name
CHAT
Mutation
c.622G>A

Orivet Genetic Pet Care

GTP Name
Orivet Genetic Pet Care
GTP Disease Name
Congenital Myasthenic Syndrome
Gene Name
CHAT
Mutation
c.622G>A
Nature of test
mutation test
GTP- or Breed-Specific Publications
Proschowsky, HF., Flagstad, A., Cirera, S., Joergensen, CB., Fredholm, M. : Identification of a mutation in the CHAT gene of Old Danish Pointing Dogs affected with congenital myasthenic syndrome. J He
Application in the Breed
Carriers may be bred to normal animals (N/cms x N/N) . Offspring should be tested before breeding . No breeding of two carriers (N/cms x N/cms) nor of affected animals. Exercise intolerance (temporarily paralyzed) (4 months of age) - No increase in severity with age.
Inheritance
AR
FCI Number
-27
GTP Breed
Australian Cobberdog

PharmaDNA

GTP
GTP Name
PharmaDNA
Gene Name
CHAT
Mutation
c.622G>A

Progènes-ADN

GTP Name
Progenes ADN
Gene Name
CHAT
Mutation
c.622G>A

VHL Genetics

GTP Name
VHL Genetics
Gene Name
CHAT
Mutation
c.622G>A

Zoolyx

GTP
GTP Name
Zoolyx
Gene Name
CHAT
Mutation
c.622G>A
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