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Ataxia, Cerebellar, Neonatal, GRM1-related

Breed: Finnish Hound

Generic Phene Data

Breeds
Relevance Rating: There is moderate evidence or research available for these breeds
Relevance Rating: There is some evidence or research available in this breed
GTPs
Agrotis S.r.l.
BioBank AS
Certagen GmbH
CMSCH
INNO
Laboratorios Labocor S.L.
Paw Print Genetics
PharmaDNA
Progènes-ADN
VHL Genetics
Zoolyx

General

Disease Name
Ataxia, Cerebellar, Neonatal, GRM1-related
OMIA
78
Gene Name
GRM1
Mutation
c.2331_2332ins62bp
Mutation 2
c.1972T>C
Mutation 3
c.2331_2332ins62bp
Test Type
Genetic Disease/Disorder
Synonyms/Related Terms
Neonatal Ataxia
Details
Ataxia seems to come in breed-related, or breed-specific types. Puppies appear to have a normal mental status, but with eye tremors, nodding from the head, body tremors, and severe gait effects. Most affected puppies are unable to stand and use "swimming" movements. Age of onset from around 2 weeks. The condition was nonprogressive at least until 4 months of age.
Details 2
Symptoms include normal mental status, head titubation, intention tremors, and severe gait, stance, and ocular ataxia beginning at 2 weeks of age. Affected pups are unable to stand and used propulsive movements (??swimming??), with frequent falling to lateral recumbency with subsequent decerebellate posturing and paddling. Ocular motor abnormalities included fine vertical tremors at rest and saccadic dysmetria. The condition was nonprogressive at least until 4 months of age. (from Coates et al. 2002)
Published
Zeng, R., Farias, FH., Johnson, GS., McKay, SD., Schnabel, RD., Decker, JE., Taylor, JF., Mann, CS., Katz, ML., Johnson, GC., Coates, JR., O?Brien, DP.: A truncated retrotransposon disrupts the GRM1 coding sequence in Coton de Tulear dogs with Bandera?s neonatal ataxia. J Vet Intern Med 25:267-72, 2011. Pubmed reference: 21281350. DOI: 10.1111/j.1939-1676.2010.0666.x
Published 2
Coates, J.R., O'Brien, D.P., Kline, K.L., Storts, R.W., Johnson, G.C., Shelton, G.D., Patterson, E.E., Abbott, L.C. : Neonatal cerebellar ataxia in Coton de Tulear dogs Journal of Veterinary Internal Medicine 16:680-9, 2002. Pubmed reference: 12465765.
Body/System/Process
Neurologic
Inheritance
AR

Breed Specific Info

Researched Breeds
Coton de Tulear

HSP Test-Specific Data

CMSCH

GTP
GTP Name
CMSCH
Breed
OMIA
Gene Name
GRM1
Mutation
c.1972T>C

Progènes-ADN

GTP
GTP Name
Progenes ADN
Breed
OMIA
Gene Name
GRM1
Mutation
c.1972T>C

Paw Print Genetics

GTP
GTP Name
Paw Print Genetics
Breed
OMIA
GTP Disease Name
Neonatal Ataxia
GTP Disease Synonym
Cerebellar Ataxia
Gene Name
GRM1
Mutation
c.1972T>C
Nature of test
mutation test
Inheritance
AR
FCI Number
51
GTP Breed
Finnish hound

PharmaDNA

GTP
GTP Name
PharmaDNA
Breed
OMIA
Gene Name
GRM1
Mutation
c.1972T>C

INNO

GTP
GTP Name
INNO
Breed
OMIA
Gene Name
GRM1
Mutation
c.1972T>C

Agrotis S.r.l.

GTP
GTP Name
Agrotis S.r.l.
Breed
OMIA
Gene Name
GRM1
Mutation
c.1972T>C

BioBank AS

GTP
GTP Name
BioBank AS
Breed
OMIA
Gene Name
GRM1
Mutation
c.1972T>C

Laboratorios Labocor S.L.

GTP
GTP Name
Laboratorios Labocor S.L.
Breed
OMIA
Gene Name
GRM1
Mutation
c.1972T>C

Certagen GmbH

GTP
GTP Name
Certagen GmbH
Breed
OMIA
Gene Name
GRM1
Mutation
c.1972T>C

VHL Genetics

GTP
GTP Name
VHL Genetics
Breed
OMIA
Gene Name
GRM1
Mutation
c.1972T>C

Zoolyx

GTP
GTP Name
Zoolyx
Breed
OMIA
Gene Name
GRM1
Mutation
c.1972T>C
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