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Neuronal Ceroid Lipofuscinosis 10 (NCL10)
Breed: American Bulldog
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 in this breed
GTPs
General
Disease Name
Neuronal Ceroid Lipofuscinosis 10 (NCL10)
OMIA
1505
Gene Name
CTSD
Mutation
c.597G>A
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. Disease progression slow. Symptoms: lack of coordination, partial paralysis of the lower limbs. Seath around the age of 7 years.
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. Disease progression slow. Symptoms: lack of coordination, partial paralysis of the lower limbs. Seath around the age of 7 years.
Published
Awano, T., Katz, ML., O'Brien, DP., Taylor, JF., Evans, J., Khan, S., Sohar, I., Lobel, P., Johnson, GS. : A mutation in the cathepsin D gene (CTSD) in American Bulldogs with neuronal ceroid lipofuscinosis. Mol Genet Metab 87:341-8, 2006. Pubmed reference: 16386934. DOI: 10.1016/j.ymgme.2005.11.005.
Body/System/Process
Metabolic
OMIA Url
Inheritance
AR
HSP Test-Specific Data
AnimaLabs
GTP
GTP Name
AnimaLabs
Breed
OMIA
Zoolyx
GTP
GTP Name
Zoolyx
Breed
OMIA
Gene Name
CTSD
Mutation
c.597G>A
Wisdom Panel - Kinship
GTP
GTP Name
Wisdom Panel - Kinship
Breed
OMIA
Gene Name
CTSD
Mutation
c.597G>A
Nature of test
mutation test
GTP- or Breed-Specific Publications
Awano, T., Katz, ML., O'Brien, DP., Taylor, JF., Evans, J., Khan, S., Sohar, I., Lobel, P., Johnson, GS. : A mutation in the cathepsin D gene (CTSD) in American Bulldogs with neuronal ceroid lipofus
Application in the Breed
Carriers can be bred to normal animals (N/ncl10 x N/N). Offspring should be tested before breeding. No breeding of two carriers (N/ncl10 x N/ncl10) nor of affected animals (ncl10/ncl10). Disease progression slow. Symptoms: lack of coordination, partial paralysis of the lower limbs. Seath around the age of 7 years.
Inheritance
AR
FCI Number
-21
GTP Breed
American Bulldog
VHL Genetics
GTP
GTP Name
VHL Genetics
Breed
OMIA
Gene Name
CTSD
Mutation
c.597G>A
VetGen LLC
GTP
GTP Name
VetGen LLC
Breed
OMIA
Gene Name
CSTD
Mutation
c.597G>A
Progènes-ADN
GTP
GTP Name
Progenes ADN
Breed
OMIA
Gene Name
CTSD
Mutation
c.597G>A
PharmaDNA
GTP
GTP Name
PharmaDNA
Breed
OMIA
Gene Name
CTSD
Mutation
c.597G>A
Paw Print Genetics
GTP
GTP Name
Paw Print Genetics
Breed
OMIA
Gene Name
CTSD
Mutation
c.597G>A
Nature of test
mutation test
FCI Number
-21
GTP Breed
American Bulldog
Orthopedic Foundation for Animals
GTP
GTP Name
Orthopedic Foundation for Animals
Breed
OMIA
Gene Name
ADAMTS2
Mutation
c.597G>A
Nature of test
mutation test
GTP- or Breed-Specific Publications
Awano, T., Katz, ML., O'Brien, DP., Taylor, JF., Evans, J., Khan, S., Sohar, I., Lobel, P., Johnson, GS. : A mutation in the cathepsin D gene (CTSD) in American Bulldogs with neuronal ceroid lipofus
Application in the Breed
Carriers can be bred to normal animals (N/ncl10 x N/N). Offspring should be tested before breeding. No breeding of two carriers (N/ncl10 x N/ncl10) nor of affected animals (ncl10/ncl10). Disease progression slow. Symptoms: lack of coordination, partial paralysis of the lower limbs. Seath around the age of 7 years.
Inheritance
AR
FCI Number
-21
GTP Breed
American Bulldog
Orivet Genetic Pet Care
GTP
GTP Name
Orivet Genetic Pet Care
Breed
OMIA
Gene Name
CTSD
Mutation
c.597G>A
Nature of test
mutation test
GTP- or Breed-Specific Publications
Awano, T., Katz, ML., O'Brien, DP., Taylor, JF., Evans, J., Khan, S., Sohar, I., Lobel, P., Johnson, GS. : A mutation in the cathepsin D gene (CTSD) in American Bulldogs with neuronal ceroid lipofus
Application in the Breed
Carriers can be bred to normal animals (N/ncl10 x N/N). Offspring should be tested before breeding. No breeding of two carriers (N/ncl10 x N/ncl10) nor of affected animals (ncl10/ncl10). Disease progression slow. Symptoms: lack of coordination, partial paralysis of the lower limbs. Seath around the age of 7 years.
Inheritance
AR
FCI Number
-21
GTP Breed
American Bulldog
Laboratorios Labocor S.L.
GTP
GTP Name
Laboratorios Labocor S.L.
Breed
OMIA
Gene Name
CTSD
Mutation
c.597G>A
Laboklin Gmbh & Co. KG
GTP
GTP Name
Laboklin Gmbh & Co. KG
Breed
OMIA
Gene Name
CTSD
Mutation
c.597G>A
Nature of test
mutation test
GTP- or Breed-Specific Publications
Awano, T., Katz, ML., O'Brien, DP., Taylor, JF., Evans, J., Khan, S., Sohar, I., Lobel, P., Johnson, GS. : A mutation in the cathepsin D gene (CTSD) in American Bulldogs with neuronal ceroid lipofus
Application in the Breed
Carriers can be bred to normal animals (N/ncl10 x N/N). Offspring should be tested before breeding. No breeding of two carriers (N/ncl10 x N/ncl10) nor of affected animals (ncl10/ncl10). Disease progression slow. Symptoms: lack of coordination, partial paralysis of the lower limbs. Seath around the age of 7 years.
Inheritance
AR
FCI Number
-21
GTP Breed
American Bulldog
INNO
GTP
GTP Name
INNO
Breed
OMIA
Gene Name
CTSD
Mutation
c.597G>A
Genomia s.r.o
GTP
GTP Name
Genomia s.r.o
Breed
OMIA
Gene Name
CTSD
Mutation
c.597G>A
Mutation Comment
g.46013354C>T
Nature of test
mutation test
EVG Diagnostics
GTP
GTP Name
EVG Molecular Diagnostics
Breed
OMIA
Gene Name
CTSD
Mutation
c.597G>A
Embark
GTP
GTP Name
Embark
Breed
OMIA
Gene Name
CTSD
Mutation
c.597G>A
Nature of test
mutation test
GTP- or Breed-Specific Publications
Awano, T., Katz, ML., O'Brien, DP., Taylor, JF., Evans, J., Khan, S., Sohar, I., Lobel, P., Johnson, GS. : A mutation in the cathepsin D gene (CTSD) in American Bulldogs with neuronal ceroid lipofus
Application in the Breed
Carriers can be bred to normal animals (N/ncl10 x N/N). Offspring should be tested before breeding. No breeding of two carriers (N/ncl10 x N/ncl10) nor of affected animals (ncl10/ncl10). Disease progression slow. Symptoms: lack of coordination, partial paralysis of the lower limbs. Seath around the age of 7 years.
Inheritance
AR
FCI Number
-21
GTP Breed
American Bulldog
DNA My Dog
GTP
GTP Name
DNA My Dog
Breed
OMIA
Gene Name
CTSD
Mutation
c.597G>A
Nature of test
mutation test
GTP- or Breed-Specific Publications
Awano, T., Katz, ML., O'Brien, DP., Taylor, JF., Evans, J., Khan, S., Sohar, I., Lobel, P., Johnson, GS. : A mutation in the cathepsin D gene (CTSD) in American Bulldogs with neuronal ceroid lipofus
Application in the Breed
Carriers can be bred to normal animals (N/ncl10 x N/N). Offspring should be tested before breeding. No breeding of two carriers (N/ncl10 x N/ncl10) nor of affected animals (ncl10/ncl10). Disease progression slow. Symptoms: lack of coordination, partial paralysis of the lower limbs. Seath around the age of 7 years.
Inheritance
AR
This test is outsourced to:
Orivet
FCI Number
-21
GTP Breed
American Bulldog
CMSCH
GTP
GTP Name
CMSCH
Breed
OMIA
Gene Name
CTSD
Mutation
c.597G>A
Certagen GmbH
GTP
GTP Name
Certagen GmbH
Breed
OMIA
Gene Name
CTSD
Mutation
c.597G>A
Generatio GmbH Center for Animal Genetics
GTP
GTP Name
Generatio GmbH Center for Animal Genetics
Breed
OMIA
Gene Name
CTSD
Mutation
c.597G>A
BioBank AS
GTP
GTP Name
BioBank AS
Breed
OMIA
Gene Name
CTSD
Mutation
c.597G>A
Antagene
GTP
GTP Name
Antagene
Breed
OMIA
Gene Name
CTSD
Mutation
c.597G>A
Nature of test
mutation test
GTP- or Breed-Specific Publications
Awano, T., Katz, ML., O'Brien, DP., Taylor, JF., Evans, J., Khan, S., Sohar, I., Lobel, P., Johnson, GS. : A mutation in the cathepsin D gene (CTSD) in American Bulldogs with neuronal ceroid lipofus
Application in the Breed
Carriers can be bred to normal animals (N/ncl10 x N/N). Offspring should be tested before breeding. No breeding of two carriers (N/ncl10 x N/ncl10) nor of affected animals (ncl10/ncl10). Disease progression slow. Symptoms: lack of coordination, partial paralysis of the lower limbs. Seath around the age of 7 years.
Inheritance
AR
FCI Number
-21
GTP Breed
American Bulldog
Agrotis S.r.l.
GTP
GTP Name
Agrotis S.r.l.
Breed
OMIA
Gene Name
CTSD
Mutation
c.597G>A
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