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Congenital Myasthenic Syndrome - CHRNE related

Breed: Old Danish pointing dog/ Gammel Dansk Hønsehund

Generic Phene Data

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

Zoolyx

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

Wisdom Health (formerly Mars Veterinary)

GTP Name
Wisdom Health (formerly Mars Veterinary)
Gene Name
CHAT
Mutation
c.622G>A
Inheritance
AR
GTP Breed
Old Danish pointing dog/ Gammel Dansk Hönsehund

VHL Genetics

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

Progènes-ADN

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

PharmaDNA

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

Paw Print Genetics

GTP Name
Paw Print Genetics
Gene Name
CHAT
Mutation
c.622G>A
GTP Breed
Old Danish pointing dog/ Gammel Dansk Hönsehund

Orivet Genetic Pet Care

GTP Name
Orivet Genetic Pet Care
Gene Name
CHAT
Mutation
c.622G>A
Inheritance
AR
GTP Breed
Old Danish pointing dog/ Gammel Dansk Hönsehund

Laboratorios Labocor S.L.

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

INNO

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

Genoscoper Laboratories Oy

GTP Name
Genoscoper Laboratories Oy
Gene Name
CHAT
Mutation
c.622G>A
Inheritance
AR
GTP Breed
Old Danish pointing dog/ Gammel Dansk Hönsehund

EVG Diagnostics

GTP Name
EVG Molecular Diagnostics
Gene Name
CHAT
Mutation
c.622G>A

DNA My Dog

GTP Name
DNA My Dog
Gene Name
CHAT
Mutation
c.622G>A
Inheritance
AR
GTP Breed
Old Danish pointing dog/ Gammel Dansk Hönsehund

CMSCH

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

Certagen GmbH

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

CAG GmbH Center for Animal Genetics

GTP Name
Center for Animal Genetics
Gene Name
CHAT
Mutation
c.622G>A
Inheritance
AR
GTP Breed
Old Danish pointing dog/ Gammel Dansk Hönsehund

BioBank AS

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

Agrotis S.r.l.

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