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Ataxia, Cerebellar, Neonatal, GRM1-related
Breed: Spinone/ Spinone italiano
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
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
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
OMIA Url
Inheritance
AR
Breed Specific Info
Researched Breeds
Coton de Tulear
HSP Test-Specific Data
Agrotis S.r.l.
GTP
GTP Name
Agrotis S.r.l.
Breed
OMIA
Gene Name
GRM1
Mutation
linked marker
BioBank AS
GTP
GTP Name
BioBank AS
Breed
OMIA
Gene Name
GRM1
Mutation
linked marker
Certagen GmbH
GTP
GTP Name
Certagen GmbH
Breed
OMIA
Gene Name
GRM1
Mutation
linked marker
CMSCH
GTP
GTP Name
CMSCH
Breed
OMIA
Gene Name
GRM1
Mutation
linked marker
DNA My Dog
GTP
GTP Name
DNA My Dog
Breed
OMIA
GTP Disease Name
Neonatal Ataxia
GTP Disease Synonym
Cerebellar Ataxia
Gene Name
GRM1
Mutation
linked marker
Nature of test
mutation test
Inheritance
Marker
This test is outsourced to:
Orivet
FCI Number
165
GTP Breed
Spinone/ Spinone italiano
INNO
GTP
GTP Name
INNO
Breed
OMIA
Gene Name
GRM1
Mutation
linked marker
Laboratorios Labocor S.L.
GTP
GTP Name
Laboratorios Labocor S.L.
Breed
OMIA
Gene Name
GRM1
Mutation
linked marker
Orivet Genetic Pet Care
GTP
GTP Name
Orivet Genetic Pet Care
Breed
OMIA
GTP Disease Name
Neonatal Ataxia
GTP Disease Synonym
Cerebellar Ataxia
Gene Name
GRM1
Mutation
linked marker
Nature of test
mutation test
Inheritance
Marker
FCI Number
165
GTP Breed
Spinone/ Spinone italiano
PharmaDNA
GTP
GTP Name
PharmaDNA
Breed
OMIA
Gene Name
GRM1
Mutation
linked marker
Progènes-ADN
GTP
GTP Name
Progenes ADN
Breed
OMIA
Gene Name
GRM1
Mutation
linked marker
VHL Genetics
GTP
GTP Name
VHL Genetics
Breed
OMIA
Gene Name
GRM1
Mutation
linked marker
Zoolyx
GTP
GTP Name
Zoolyx
Breed
OMIA
Gene Name
GRM1
Mutation
linked marker
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