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Neuronal Ceroid Lipofuscinosis 2 (NCL2)
Breed: Dachshunds
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 2 (NCL2)
OMIA
1472
Gene Name
TPP1
Mutation
c.325delC
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. Vision loss, difficulty see in dim light. Difficulty with balancing and walking, tremors, muscle twitching, seizures. Hyperactivity, aggression, and a decline cognitive abilities. Death by 12 months of age.
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. Vision loss, difficulty see in dim light. Difficulty with balancing and walking, tremors, muscle twitching, seizures. Hyperactivity, aggression, and a decline cognitive abilities. Death by 12 months of age.
Published
Awano, T., Katz, ML., O'Brien, DP., Sohar, I., Lobel, P., Coates, JR., Khan, S., Johnson, GC., Giger, U., Johnson, GS. : A frame shift mutation in canine TPP1 (the ortholog of human CLN2) in a juvenile Dachshund with neuronal ceroid lipofuscinosis. Mol Genet Metab 89:254-60, 2006. Pubmed reference: 16621647. DOI: 10.1016/j.ymgme.2006.02.016.
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
TPP1
Mutation
c.325delC
BioBank AS
GTP
GTP Name
BioBank AS
Breed
OMIA
Gene Name
TPP1
Mutation
c.325delC
Generatio GmbH Center for Animal Genetics
GTP
GTP Name
Generatio GmbH Center for Animal Genetics
Breed
OMIA
Gene Name
TPP1
Mutation
c.325delC
Certagen GmbH
GTP
GTP Name
Certagen GmbH
Breed
OMIA
Gene Name
TPP1
Mutation
c.325delC
CMSCH
GTP
GTP Name
CMSCH
Breed
OMIA
Gene Name
TPP1
Mutation
c.325delC
DNA My Dog
GTP
GTP Name
DNA My Dog
Breed
OMIA
Gene Name
TPP1
Mutation
c.325delC
Nature of test
mutation test
GTP- or Breed-Specific Publications
Awano, T., Katz, ML., O'Brien, DP., Sohar, I., Lobel, P., Coates, JR., Khan, S., Johnson, GC., Giger, U., Johnson, GS. : A frame shift mutation in canine TPP1 (the ortholog of human CLN2) in a juve
Application in the Breed
Carriers may be bred to normal animals (N/ncl2 x N/N) . Offspring should be tested before breeding . No breeding of two carriers (N/ncl2 x N/ncl2) nor of affected animals (ncl2/ncl2). Vision loss, difficulty see in dim light. Difficulty with balancing and walking, tremors, muscle twitching, seizures. Hyperactivity, aggression, and a decline cognitive abilities. Die by 12 months or euthanised.
Inheritance
AR
This test is outsourced to:
Orivet
FCI Number
148
GTP Breed
Dachshunds
Embark
GTP
GTP Name
Embark
Breed
OMIA
Gene Name
TPP1
Mutation
c.325delC
Nature of test
mutation test
GTP- or Breed-Specific Publications
Awano, T., Katz, ML., O'Brien, DP., Sohar, I., Lobel, P., Coates, JR., Khan, S., Johnson, GC., Giger, U., Johnson, GS. : A frame shift mutation in canine TPP1 (the ortholog of human CLN2) in a juve
Application in the Breed
Carriers may be bred to normal animals (N/ncl2 x N/N) . Offspring should be tested before breeding . No breeding of two carriers (N/ncl2 x N/ncl2) nor of affected animals (ncl2/ncl2). Vision loss, difficulty see in dim light. Difficulty with balancing and walking, tremors, muscle twitching, seizures. Hyperactivity, aggression, and a decline cognitive abilities. Die by 12 months or euthanised.
Inheritance
AR
FCI Number
148
GTP Breed
Dachshunds
EVG Diagnostics
GTP
GTP Name
EVG Molecular Diagnostics
Breed
OMIA
Gene Name
TPP1
Mutation
c.325delC
INNO
GTP
GTP Name
INNO
Breed
OMIA
Gene Name
TPP1
Mutation
c.325delC
Laboratorios Labocor S.L.
GTP
GTP Name
Laboratorios Labocor S.L.
Breed
OMIA
Gene Name
TPP1
Mutation
c.325delC
Laboklin Gmbh & Co. KG
GTP
GTP Name
Laboklin Gmbh & Co. KG
Breed
OMIA
Gene Name
TPP1
Mutation
c.325delC
Nature of test
mutation test
GTP- or Breed-Specific Publications
Awano, T., Katz, ML., O'Brien, DP., Sohar, I., Lobel, P., Coates, JR., Khan, S., Johnson, GC., Giger, U., Johnson, GS. : A frame shift mutation in canine TPP1 (the ortholog of human CLN2) in a juve
Application in the Breed
Carriers may be bred to normal animals (N/ncl2 x N/N) . Offspring should be tested before breeding . No breeding of two carriers (N/ncl2 x N/ncl2) nor of affected animals (ncl2/ncl2). Vision loss, difficulty see in dim light. Difficulty with balancing and walking, tremors, muscle twitching, seizures. Hyperactivity, aggression, and a decline cognitive abilities. Die by 12 months or euthanised.
Inheritance
AR
FCI Number
148
GTP Breed
Dachshunds
Orthopedic Foundation for Animals
GTP
GTP Name
Orthopedic Foundation for Animals
Breed
OMIA
Gene Name
VPS11
Mutation
c.325delC
Nature of test
mutation test
GTP- or Breed-Specific Publications
Awano, T., Katz, ML., O'Brien, DP., Sohar, I., Lobel, P., Coates, JR., Khan, S., Johnson, GC., Giger, U., Johnson, GS. : A frame shift mutation in canine TPP1 (the ortholog of human CLN2) in a juve
Application in the Breed
Carriers may be bred to normal animals (N/ncl2 x N/N) . Offspring should be tested before breeding . No breeding of two carriers (N/ncl2 x N/ncl2) nor of affected animals (ncl2/ncl2). Vision loss, difficulty see in dim light. Difficulty with balancing and walking, tremors, muscle twitching, seizures. Hyperactivity, aggression, and a decline cognitive abilities. Die by 12 months or euthanised.
Inheritance
AR
FCI Number
148
GTP Breed
Dachshunds
Orivet Genetic Pet Care
GTP
GTP Name
Orivet Genetic Pet Care
Breed
OMIA
Gene Name
TPP1
Mutation
c.325delC
Nature of test
mutation test
GTP- or Breed-Specific Publications
Awano, T., Katz, ML., O'Brien, DP., Sohar, I., Lobel, P., Coates, JR., Khan, S., Johnson, GC., Giger, U., Johnson, GS. : A frame shift mutation in canine TPP1 (the ortholog of human CLN2) in a juve
Application in the Breed
Carriers may be bred to normal animals (N/ncl2 x N/N) . Offspring should be tested before breeding . No breeding of two carriers (N/ncl2 x N/ncl2) nor of affected animals (ncl2/ncl2). Vision loss, difficulty see in dim light. Difficulty with balancing and walking, tremors, muscle twitching, seizures. Hyperactivity, aggression, and a decline cognitive abilities. Die by 12 months or euthanised.
Inheritance
AR
FCI Number
148
GTP Breed
Dachshunds
Paw Print Genetics
GTP
GTP Name
Paw Print Genetics
Breed
OMIA
Gene Name
TPP1
Mutation
Deletion
Nature of test
mutation test
FCI Number
148
GTP Breed
Dachshunds
PharmaDNA
GTP
GTP Name
PharmaDNA
Breed
OMIA
Gene Name
TPP1
Mutation
c.325delC
Progènes-ADN
GTP
GTP Name
Progenes ADN
Breed
OMIA
Gene Name
TPP1
Mutation
c.325delC
VHL Genetics
GTP
GTP Name
VHL Genetics
Breed
OMIA
Gene Name
TPP1
Mutation
c.325delC
Zoolyx
GTP
GTP Name
Zoolyx
Breed
OMIA
Gene Name
TPP1
Mutation
c.325delC
AnimaLabs
GTP
GTP Name
AnimaLabs
Breed
OMIA
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