DonateCongenital Myasthenic Syndrome - CHRNE related
Breed: Australian Cobberdog
Generic Phene Data
Breeds
Relevance Rating: There is some evidence or research available in this breed
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
Relevance Rating: All current available evidence has been reviewed, but relevancy is inconclusive, AND/OR the clinical form of this disease has never been seen for these breeds
General
Disease Name
Congenital Myasthenic Syndrome - CHRNE related
Mutation
c.633_634insC
Mutation 2
c.1436_1437insG
Mutation 3
c.622G>A
Key Comments
Incorrectly associated with Golden Retrievers; not the correct test
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 Info
Researched Breeds
Jack Russell Terrier
Breed Specific Data
VHL Genetics
GTP
GTP Name
VHL Genetics
Breed
OMIA
Gene Name
CHAT
Mutation
c.622G>A
Agrotis S.r.l.
GTP
GTP Name
Agrotis S.r.l.
Breed
OMIA
Gene Name
CHAT
Mutation
c.622G>A
BioBank AS
Certagen GmbH
GTP
GTP Name
Certagen GmbH
Breed
OMIA
Gene Name
CHAT
Mutation
c.622G>A
CMSCH
DNA My Dog
GTP
GTP Name
DNA My Dog
Breed
OMIA
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
Laboratorios Labocor S.L.
GTP Name
Laboratorios Labocor S.L.
Breed
OMIA
Gene Name
CHAT
Mutation
c.622G>A
Orivet Genetic Pet Care
GTP Name
Orivet Genetic Pet Care
Breed
OMIA
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
Progènes-ADN
GTP
GTP Name
Progenes ADN
Breed
OMIA
Gene Name
CHAT
Mutation
c.622G>A
Zoolyx
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