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Neuronal Ceroid Lipofuscinosis 5 (NCL5)
Breed: Golden Retriever
Generic Phene Data
Breeds
Relevance Rating: There is some evidence or research available for these breeds
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 5 (NCL5)
OMIA
1482
Gene Name
CLN5
Mutation
c.619C>T
Mutation 2
c.934_935delAG
Test Type
Genetic Disease/Disorder
Key Comments
Golden Retrievers and their crosses: Rare, but has appeared unexpectedly in some breeding lines
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 (18-24 months of age): vision loss, poor coordination, behavioural changes (aggression, hyperactivity and dementia)
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 (18-24 months of age): vision loss, poor coordination, behavioural changes (aggression, hyperactivity and dementia)
Published
Melville, SA., Wilson, CL., Chiang, CS., Studdert, VP., Lingaas, F., Wilton, AN. : A mutation in canine CLN5 causes neuronal ceroid lipofuscinosis in Border collie dogs. Genomics 86:287-94, 2005. Pubmed reference: 16033706. DOI: 10.1016/j.ygeno.2005.06.005.
Published 2
Gilliam, D., Kolicheski, A., Johnson, G.S., Mhlanga-Mutangadura, T., Taylor, J.F., Schnabel, R.D., Katz, M.L. : Golden Retriever dogs with neuronal ceroid lipofuscinosis have a two-base-pair deletion and frameshift in CLN5. Mol Genet Metab 115:101-9, 2015. Pubmed reference: 25934231. DOI: 10.1016/j.ymgme.2015.04.001.
Published 3
2019 Villani, N.A., Bullock, G., Michaels, J.R., Yamato, O., O'Brien, D.P., Mhlanga-Mutangadura, T., Johnson, G.S., Katz, M.L. : A mixed breed dog with neuronal ceroid lipofuscinosis is homozygous for a CLN5 nonsense mutation previously identified in Border Collies and Australian Cattle Dogs. Mol Genet Metab 127:107-115, 2019. Pubmed reference: 31101435. DOI: 10.1016/j.ymgme.2019.04.003.
Published 4
2016 Kolicheski, A., Johnson, G.S., O'Brien, D.P., Mhlanga-Mutangadura, T., Gilliam, D., Guo, J., Anderson-Sieg, T.D., Schnabel, R.D., Taylor, J.F., Lebowitz, A., Swanson, B., Hicks, D., Niman, Z.E., Wininger, F.A., Carpentier, M.C., Katz, M.L. : Australian Cattle Dogs with Neuronal Ceroid Lipofuscinosis are Homozygous for a CLN5 Nonsense Mutation Previously Identified in Border Collies. J Vet Intern Med :, 2016. Pubmed reference: 27203721. DOI: 10.1111/jvim.13971.
Body/System/Process
Metabolic
OMIA Url
Inheritance
AR
Breed Specific Info
Researched Breeds
Australian Cattle Dogs, Golden Retriever, Border Collie
HSP Test-Specific Data
Agrotis S.r.l.
GTP
GTP Name
Agrotis S.r.l.
Breed
OMIA
Gene Name
CLN5
Mutation
c.934_935delAG
BioBank AS
GTP
GTP Name
BioBank AS
Breed
OMIA
Gene Name
CLN5
Mutation
c.934_935delAG
Orivet Genetic Pet Care
GTP
GTP Name
Orivet Genetic Pet Care
Breed
OMIA
Gene Name
CLN5
Mutation
c.934_935delAG
Nature of test
mutation test
GTP- or Breed-Specific Publications
Gilliam, D., Kolicheski, A., Johnson, G.S., Mhlanga-Mutangadura, T., Taylor, J.F., Schnabel, R.D., Katz, M.L. : Golden Retriever dogs with neuronal ceroid lipofuscinosis have a two-base-pair deleti
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
111
GTP Breed
Golden Retriever
Weatherbys Scientific
GTP
GTP Name
Weatherbys Scientific
Breed
OMIA
Gene Name
CLN5
Mutation
c.934_935delAG
Generatio GmbH Center for Animal Genetics
GTP
GTP Name
Generatio GmbH Center for Animal Genetics
Breed
OMIA
Gene Name
CLN5
Mutation
c.934_935delAG
Laboratorios Labocor S.L.
GTP
GTP Name
Laboratorios Labocor S.L.
Breed
OMIA
Gene Name
CLN5
Mutation
c.934_935delAG
Certagen GmbH
GTP
GTP Name
Certagen GmbH
Breed
OMIA
Gene Name
CLN5
Mutation
c.934_935delAG
VetGen LLC
GTP
GTP Name
VetGen LLC
Breed
OMIA
Gene Name
CLN5
Mutation
c.619C>T
Anicom Specialty Medical Institute Inc.
GTP
GTP Name
Anicom
Breed
OMIA
Gene Name
CLN5
Mutation
c.934_935delAG
VHL Genetics/ Combibreed
GTP
GTP Name
VHL Genetics
Breed
OMIA
Gene Name
CLN5
Mutation
c.934_935delAG
Zoolyx
GTP
GTP Name
Zoolyx
Breed
OMIA
Gene Name
CLN5
Mutation
c.934_935delAG
CMSCH
GTP
GTP Name
CMSCH
Breed
OMIA
Gene Name
CLN5
Mutation
c.934_935delAG
Progènes-ADN
GTP
GTP Name
Progenes ADN
Breed
OMIA
Gene Name
CLN5
Mutation
c.934_935delAG
AnimaLabs
GTP
GTP Name
AnimaLabs
Breed
OMIA
DNA My Dog
GTP
GTP Name
DNA My Dog
Breed
OMIA
Gene Name
CLN5
Mutation
c.934_935delAG
Nature of test
mutation test
GTP- or Breed-Specific Publications
Gilliam, D., Kolicheski, A., Johnson, G.S., Mhlanga-Mutangadura, T., Taylor, J.F., Schnabel, R.D., Katz, M.L. : Golden Retriever dogs with neuronal ceroid lipofuscinosis have a two-base-pair deleti
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
111
GTP Breed
Golden Retriever
Antagene
GTP
GTP Name
Antagene
Breed
OMIA
Gene Name
CLN5
Mutation
c.934_935delAG
Nature of test
mutation test
GTP- or Breed-Specific Publications
Gilliam, D., Kolicheski, A., Johnson, G.S., Mhlanga-Mutangadura, T., Taylor, J.F., Schnabel, R.D., Katz, M.L. : Golden Retriever dogs with neuronal ceroid lipofuscinosis have a two-base-pair deleti
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
111
GTP Breed
Golden Retriever
PharmaDNA
GTP
GTP Name
PharmaDNA
Breed
OMIA
Gene Name
CLN5
Mutation
c.934_935delAG
INNO
GTP
GTP Name
INNO
Breed
OMIA
Gene Name
CLN5
Mutation
c.934_935delAG
Genomia s.r.o
GTP
GTP Name
Genomia s.r.o
Breed
OMIA
GTP Disease Synonym
NCL 5
Gene Name
CLN5
Mutation
c.935_936del
Mutation Comment
g.30574953_30574954del
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Key Comment