Neuronal Ceroid Lipofuscinosis 6 (NCL6)
Breed: Miniature American Shepherd
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
General
Disease Name
Neuronal Ceroid Lipofuscinosis 6 (NCL6)
OMIA
1443
Gene Name
CLN6
Mutation
c.829T>C
Test Type
Genetic Disease/Disorder
Details
The Neuronal ceroid lipofuscinosis (NCLs) are a group of inherited neurodegenerative diseases characterized by accumulation of autofluorescent cytoplasmic antibodies within cells of the nervous system. Affected dogs typically exhibit a condition of cerebellar dysfunction in which voluntary muscular movements tend to result in loss of control and coordination. Symptoms (18 months of age) : Vision loss & full blindness & behaviour changes (hyperactivity, circling, anxiety and decreasing cognitive abilities)
Details 2
The Neuronal ceroid lipofuscinosis (NCLs) are a group of inherited neurodegenerative diseases characterized by accumulation of autofluorescent cytoplasmic antibodies within cells of the nervous system. Affected dogs typically exhibit a condition of cerebellar dysfunction in which voluntary muscular movements tend to result in loss of control and coordination. Symptoms (18 months of age) : Vision loss & full blindness & behaviour changes (hyperactivity, circling, anxiety and decreasing cognitive abilities)
Published
Katz,ML.,Farias,FH.,Sanders,DN.,Zeng,R.,Khan,S.,Johnson,GS.,O'Brien,DP.: AmissensemutationincanineCLN6inanAustralianshepherdwithneuronalceroidlipofuscinosis.JBiomedBiotechnol2011:198042,2011.Pubmedreference:21234413.DOI:10.1155/2011/198042.
Body/System/Process
Metabolic
OMIA Url
Inheritance
AR
HSP Test-Specific Data
EVG Diagnostics
GTP
GTP Name
EVG Molecular Diagnostics
Breed
OMIA
Gene Name
CLN6
Mutation
c.829T>C
Genomia s.r.o
GTP
GTP Name
Genomia s.r.o
Breed
OMIA
GTP Disease Synonym
NCL6
Gene Name
CLN6
Mutation
c.829T>C
Mutation Comment
g.32247875A>G
Paw Print Genetics
GTP
GTP Name
Paw Print Genetics
Breed
OMIA
Gene Name
CLN6
Mutation
c.829T>C
Nature of test
mutation test
FCI Number
-50
AnimaLabs
GTP
GTP Name
AnimaLabs
Breed
OMIA
Key Comment