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Neuronal Ceroid Lipofuscinosis 6 (NCL6)
Breed: Australian 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
GTPs
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
Agrotis S.r.l.
GTP
GTP Name
Agrotis S.r.l.
Breed
OMIA
Gene Name
CLN6
Mutation
c.829T>C
Anicom Specialty Medical Institute Inc.
GTP
GTP Name
Anicom
Breed
OMIA
Gene Name
CLN6
Mutation
c.829T>C
BioBank AS
GTP
GTP Name
BioBank AS
Breed
OMIA
Gene Name
CLN6
Mutation
c.829T>C
Certagen GmbH
GTP
GTP Name
Certagen GmbH
Breed
OMIA
Gene Name
CLN6
Mutation
c.829T>C
CMSCH
GTP
GTP Name
CMSCH
Breed
OMIA
Gene Name
CLN6
Mutation
c.829T>C
DNA My Dog
GTP
GTP Name
DNA My Dog
Breed
OMIA
Gene Name
CLN6
Mutation
c.829T>C
Nature of test
mutation test
GTP- or Breed-Specific Publications
Katz, ML., Farias, FH., Sanders, DN., Zeng, R., Khan, S., Johnson, GS., O'Brien, DP. : A missense mutation in canine CLN6 in an Australian shepherd with neuronal ceroid lipofuscinosis. J Biomed Bi
Application in the Breed
Carriers may be bred to normal animals (N/ncl5 x N/N). Offspring should be tested before breeding. No breeding of two carriers (N/ncl5 x N/ncl5) nor of affected animals (ncl5/ncl5). Symptoms (18-24 months of age): vision loss, poor coordination, behavioural changes (aggression, hyperactivity and dementia)
Inheritance
AR
This test is outsourced to:
Orivet
FCI Number
342
GTP Breed
Australian Shepherd
Embark
GTP
GTP Name
Embark
Breed
OMIA
Gene Name
CLN6
Mutation
c.829T>C
Nature of test
mutation test
GTP- or Breed-Specific Publications
Katz, ML., Farias, FH., Sanders, DN., Zeng, R., Khan, S., Johnson, GS., O'Brien, DP. : A missense mutation in canine CLN6 in an Australian shepherd with neuronal ceroid lipofuscinosis. J Biomed Bi
Application in the Breed
Carriers may be bred to normal animals (N/ncl5 x N/N). Offspring should be tested before breeding. No breeding of two carriers (N/ncl5 x N/ncl5) nor of affected animals (ncl5/ncl5). Symptoms (18-24 months of age): vision loss, poor coordination, behavioural changes (aggression, hyperactivity and dementia)
Inheritance
AR
FCI Number
342
GTP Breed
Australian Shepherd
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
INNO
GTP
GTP Name
INNO
Breed
OMIA
Gene Name
CLN6
Mutation
c.829T>C
Laboratorios Labocor S.L.
GTP
GTP Name
Laboratorios Labocor S.L.
Breed
OMIA
Gene Name
CLN6
Mutation
c.829T>C
Laboklin Gmbh & Co. KG
GTP
GTP Name
Laboklin Gmbh & Co. KG
Breed
OMIA
Gene Name
CLN6
Mutation
c.829T>C
Nature of test
mutation test
GTP- or Breed-Specific Publications
Katz, ML., Farias, FH., Sanders, DN., Zeng, R., Khan, S., Johnson, GS., O'Brien, DP. : A missense mutation in canine CLN6 in an Australian shepherd with neuronal ceroid lipofuscinosis. J Biomed Bi
Application in the Breed
Carriers may be bred to normal animals (N/ncl5 x N/N). Offspring should be tested before breeding. No breeding of two carriers (N/ncl5 x N/ncl5) nor of affected animals (ncl5/ncl5). Symptoms (18-24 months of age): vision loss, poor coordination, behavioural changes (aggression, hyperactivity and dementia)
Inheritance
AR
FCI Number
342
GTP Breed
Australian Shepherd
Orivet Genetic Pet Care
GTP
GTP Name
Orivet Genetic Pet Care
Breed
OMIA
Gene Name
CLN6
Mutation
c.829T>C
Nature of test
mutation test
GTP- or Breed-Specific Publications
Katz, ML., Farias, FH., Sanders, DN., Zeng, R., Khan, S., Johnson, GS., O'Brien, DP. : A missense mutation in canine CLN6 in an Australian shepherd with neuronal ceroid lipofuscinosis. J Biomed Bi
Application in the Breed
Carriers may be bred to normal animals (N/ncl5 x N/N). Offspring should be tested before breeding. No breeding of two carriers (N/ncl5 x N/ncl5) nor of affected animals (ncl5/ncl5). Symptoms (18-24 months of age): vision loss, poor coordination, behavioural changes (aggression, hyperactivity and dementia)
Inheritance
AR
FCI Number
342
GTP Breed
Australian Shepherd
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
342
GTP Breed
Australian Shepherd
PharmaDNA
GTP
GTP Name
PharmaDNA
Breed
OMIA
Gene Name
CLN6
Mutation
c.829T>C
Progènes-ADN
GTP
GTP Name
Progenes ADN
Breed
OMIA
Gene Name
CLN6
Mutation
c.829T>C
VetGen LLC
GTP
GTP Name
VetGen LLC
Breed
OMIA
Gene Name
CLN6
Mutation
c.829T>C
VHL Genetics
GTP
GTP Name
VHL Genetics
Breed
OMIA
Gene Name
CLN6
Mutation
c.829T>C
Weatherbys Scientific
GTP
GTP Name
Weatherbys Scientific
Breed
OMIA
Gene Name
CLN6
Mutation
c.829T>C
Zoolyx
GTP
GTP Name
Zoolyx
Breed
OMIA
Gene Name
CLN6
Mutation
c.829T>C
AnimaLabs
GTP
GTP Name
AnimaLabs
Breed
OMIA
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Key Comment