Reminder: Login to access new features and members-only content!

Register to be a member of our community. Its easy!

Register a new account

Already a member?

Log In here!

Donate

Did you find our content interesting or helpful? Help support the IPFD enhance health, well-being and welfare for dogs everywhere.

Jump to content
  •   Language
  • Sign Up

International Partnership for Dogs - Enhancing Dog Health, Well-Being, and Welfare - Join Us.

Congenital Myasthenic Syndrome - CHRNE related

Breed: Jack Russell Terrier

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

Zoolyx

GTP
GTP Name
Zoolyx
Gene Name
CHRNE
Mutation
c.633_634insC; c.1436_1437insG

Wisdom Health (formerly Mars Veterinary)

GTP Name
Wisdom Health (formerly Mars Veterinary)
GTP Disease Name
Congenital Myasthenic Syndrome, (CMS); mutation originally found in Jack Russell Terrier
Gene Name
CHRNE
Mutation
c.633_634insC
Nature of test
mutation test
FCI Number
345
GTP Breed
Jack Russell Terrier

VHL Genetics

GTP Name
VHL Genetics
Gene Name
CHRNE
Mutation
c.633_634insC; c.1436_1437insG

VetGen LLC

GTP Name
VetGen LLC
Gene Name
CHRNE
Mutation
c.633_634insC; c.1436_1437insG

Progènes-ADN

GTP Name
Progenes ADN
Gene Name
CHRNE
Mutation
c.633_634insC; c.1436_1437insG

PharmaDNA

GTP
GTP Name
PharmaDNA
Gene Name
CHRNE
Mutation
c.633_634insC; c.1436_1437insG

Laboklin Gmbh & Co. KG

GTP Name
Laboklin Gmbh & Co. KG
GTP Disease Name
Congenital Myasthenic Syndrome, (CMS); mutation originally found in Jack Russell Terrier
Gene Name
CHRNE
Mutation
c.633_634insC; c.1436_1437insG
Nature of test
mutation test
FCI Number
345

Laboratorios Labocor S.L.

GTP Name
Laboratorios Labocor S.L.
Gene Name
CHRNE
Mutation
c.633_634insC; c.1436_1437insG

INNO

GTP
GTP Name
INNO
Gene Name
CHRNE
Mutation
c.633_634insC; c.1436_1437insG

Genoscoper Laboratories Oy

GTP Name
Genoscoper Laboratories Oy
GTP Disease Name
Congenital Myasthenic Syndrome, (CMS); mutation originally found in Jack Russell Terrier
Gene Name
CHRNE
Mutation
c.633_634insC
Nature of test
mutation test
FCI Number
345
GTP Breed
Jack Russell Terrier

CMSCH

GTP
GTP Name
CMSCH
Gene Name
CHRNE
Mutation
c.633_634insC; c.1436_1437insG

Certagen GmbH

GTP Name
Certagen GmbH
Gene Name
CHRNE
Mutation
c.633_634insC; c.1436_1437insG

BioBank AS

GTP Name
BioBank AS
Gene Name
CHRNE
Mutation
c.633_634insC; c.1436_1437insG

Agrotis S.r.l.

GTP Name
Agrotis S.r.l.
Gene Name
CHRNE
Mutation
c.633_634insC; c.1436_1437insG
×
×
  • Create New...

Important Information

By using this site, you agree to our Terms of Use.