Reminder: Login to access new features and members-only content!

Register to be a member of our community. Its easy!

Register a new account

Already a member?

Log In here!

Donate

Did you find our content interesting or helpful? Help support the IPFD enhance health, well-being and welfare for dogs everywhere.

Jump to content
  •   Language
  • Sign Up

International Partnership for Dogs - Enhancing Dog Health, Well-Being, and Welfare - Join Us.

Neuronal Ceroid Lipofuscinosis 2 (NCL2)

Breed: Dachshunds

Generic Phene Data

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

General

Disease Name
Neuronal Ceroid Lipofuscinosis 2 (NCL2)
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.

Breed Specific Data

Zoolyx

GTP
GTP Name
Zoolyx
Breed
Gene Name
TPP1
Mutation
c.325delC

Progènes-ADN

GTP Name
Progenes ADN
Breed
Gene Name
TPP1
Mutation
c.325delC

PharmaDNA

GTP
GTP Name
PharmaDNA
Breed
Gene Name
TPP1
Mutation
c.325delC

Laboratorios Labocor S.L.

GTP Name
Laboratorios Labocor S.L.
Breed
Gene Name
TPP1
Mutation
c.325delC

INNO

GTP
GTP Name
INNO
Breed
Gene Name
TPP1
Mutation
c.325delC

CMSCH

GTP
GTP Name
CMSCH
Breed
Gene Name
TPP1
Mutation
c.325delC

BioBank AS

GTP Name
BioBank AS
Breed
Gene Name
TPP1
Mutation
c.325delC

Agrotis S.r.l.

GTP Name
Agrotis S.r.l.
Breed
Gene Name
TPP1
Mutation
c.325delC

DNA My Dog

GTP Name
DNA My Dog
Breed
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

Certagen GmbH

GTP Name
Certagen GmbH
Breed
Gene Name
TPP1
Mutation
c.325delC

VHL Genetics

GTP Name
VHL Genetics
Breed
Gene Name
TPP1
Mutation
c.325delC

Paw Print Genetics

GTP Name
Paw Print Genetics
Breed
Gene Name
TPP1
Mutation
Deletion
Nature of test
mutation test
FCI Number
148
GTP Breed
Dachshunds

Orthopedic Foundation for Animals

GTP Name
Orthopedic Foundation for Animals
Breed
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

Orivet Genetic Pet Care

GTP Name
Orivet Genetic Pet Care
Breed
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

Laboklin Gmbh & Co. KG

GTP Name
Laboklin Gmbh & Co. KG
Breed
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 Name
EVG Molecular Diagnostics
Breed
Gene Name
TPP1
Mutation
c.325delC
Nature of test
mutation test
GTP- or Breed-Specific Publications
Mol Genet Metab 89:254-60, 2006

Embark

GTP
GTP Name
Embark
Breed
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

CAG GmbH Center for Animal Genetics

GTP Name
Center for Animal Genetics
Breed
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
×
×
  • Create New...

Important Information

By using this site, you agree to our Terms of Use.