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
International Partnership for Dogs Calls for Collective Actions for Health and Welfare of Pedigree Dogs ×
Read IPFD's Annual Report - 2020: A Year Like No Other ×
International Partnership for Dogs - Enhancing Dog Health, Well-Being, and Welfare - Join Us
Search In
  • More options...
Find results that contain...
Find results in...

Congenital Myasthenic Syndrome - CHRNE related

Breed: Parson Russell Terrier

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
GTPs
Agrotis S.r.l.
BioBank AS
Certagen GmbH
CMSCH
INNO
Laboklin Gmbh & Co. KG
Laboratorios Labocor S.L.
PharmaDNA
Progènes-ADN
VetGen LLC
VHL Genetics
Zoolyx

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

BioBank AS

GTP Name
BioBank AS
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

CMSCH

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

INNO

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

Laboratorios Labocor S.L.

GTP Name
Laboratorios Labocor S.L.
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
Gene Name
CHRNE
Mutation
c.633_634insC; c.1436_1437insG
Nature of test
mutation test
FCI Number
339

PharmaDNA

GTP
PharmaDNA
GTP Name
PharmaDNA
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

VetGen LLC

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

Zoolyx

GTP
Zoolyx
GTP Name
Zoolyx
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

VHL Genetics

GTP Name
VHL Genetics
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.

  I accept