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Neuronal Ceroid Lipofuscinosis 7 (NCL7)
Breed: Chihuahuas
Generic Phene Data
Breeds
Relevance Rating: There is some evidence or research available for these breeds
General
Disease Name
Neuronal Ceroid Lipofuscinosis 7 (NCL7)
OMIA
1962
Gene Name
MFSD8
Mutation
c.843delT
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. Blindness, anxiety, and disorientation (12-18 months of age). With progression: eat non-food items, agitation, lack of coordination, increased sleeping
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. Blindness, anxiety, and disorientation (12-18 months of age). With progression: eat non-food items, agitation, lack of coordination, increased sleeping
Published
Faller, K.M., Bras, J., Sharpe, S.J., Anderson, G.W., Darwent, L., Kun-Rodrigues, C., Alroy, J., Penderis, J., Mole, S.E., Gutierrez-Quintana, R., Guerreiro, R.J. : The Chihuahua dog: A new animal model for neuronal ceroid lipofuscinosis CLN7 disease? J Neurosci Res 94:339-47, 2016. Pubmed reference: 26762174. DOI: 10.1002/jnr.23710.
Published 2
Guo, J., O'Brien, D.P., Mhlanga-Mutangadura, T., Olby, N.J., Taylor, J.F., Schnabel, R.D., Katz, M.L., Johnson, G.S. : A rare homozygous MFSD8 single-base-pair deletion and frameshift in the whole genome sequence of a Chinese Crested dog with neuronal ceroid lipofuscinosis. BMC Vet Res 10:960, 2015. Pubmed reference: 25551667. DOI: 10.1186/s12917-014-0181-z.
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
MFSD8
Mutation
c.843delT
Antagene
GTP
GTP Name
Antagene
Breed
OMIA
Gene Name
MFSD8
Mutation
c.843delT
Nature of test
mutation test
GTP- or Breed-Specific Publications
Faller, K.M., Bras, J., Sharpe, S.J., Anderson, G.W., Darwent, L., Kun-Rodrigues, C., Alroy, J., Penderis, J., Mole, S.E., Gutierrez-Quintana, R., Guerreiro, R.J. : The Chihuahua dog: A new animal mod
Application in the Breed
Carriers may be bred to normal animals (N/ncl7 x N/N) . Offspring should be tested before breeding. No breeding of two carriers (N/ncl7 x N/ncl7) nor of affected animals (ncl7/ncl7). Blindness, anxiety, and disorientation (12-18 months of age). With progression: eat non-food items, agitation, lack of coordination, increased sleeping
Inheritance
AR
FCI Number
218
GTP Breed
Chihuahuas
BioBank AS
GTP
GTP Name
BioBank AS
Breed
OMIA
Gene Name
MFSD8
Mutation
c.843delT
Certagen GmbH
GTP
GTP Name
Certagen GmbH
Breed
OMIA
Gene Name
MFSD8
Mutation
c.843delT
CMSCH
GTP
GTP Name
CMSCH
Breed
OMIA
Gene Name
MFSD8
Mutation
c.843delT
DNA My Dog
GTP
GTP Name
DNA My Dog
Breed
OMIA
Gene Name
MFSD8
Mutation
c.843delT
Nature of test
mutation test
GTP- or Breed-Specific Publications
Guo, J., O'Brien, D.P., Mhlanga-Mutangadura, T., Olby, N.J., Taylor, J.F., Schnabel, R.D., Katz, M.L., Johnson, G.S. : A rare homozygous MFSD8 single-base-pair deletion and frameshift in the whole gen
Application in the Breed
Carriers may be bred to normal animals (N/ncl7 x N/N) . Offspring should be tested before breeding. No breeding of two carriers (N/ncl7 x N/ncl7) nor of affected animals (ncl7/ncl7). Blindness, anxiety, and disorientation (12-18 months of age). With progression: eat non-food items, agitation, lack of coordination, increased sleeping
Inheritance
AR
This test is outsourced to:
Orivet
FCI Number
218
GTP Breed
Chihuahuas
INNO
GTP
GTP Name
INNO
Breed
OMIA
Gene Name
MFSD8
Mutation
c.843delT
Laboratorios Labocor S.L.
GTP
GTP Name
Laboratorios Labocor S.L.
Breed
OMIA
Gene Name
MFSD8
Mutation
c.843delT
Orivet Genetic Pet Care
GTP
GTP Name
Orivet Genetic Pet Care
Breed
OMIA
Gene Name
MFSD8
Mutation
c.843delT
Nature of test
mutation test
GTP- or Breed-Specific Publications
Guo, J., O'Brien, D.P., Mhlanga-Mutangadura, T., Olby, N.J., Taylor, J.F., Schnabel, R.D., Katz, M.L., Johnson, G.S. : A rare homozygous MFSD8 single-base-pair deletion and frameshift in the whole gen
Application in the Breed
Carriers may be bred to normal animals (N/ncl7 x N/N) . Offspring should be tested before breeding. No breeding of two carriers (N/ncl7 x N/ncl7) nor of affected animals (ncl7/ncl7). Blindness, anxiety, and disorientation (12-18 months of age). With progression: eat non-food items, agitation, lack of coordination, increased sleeping
Inheritance
AR
FCI Number
218
GTP Breed
Chihuahuas
PharmaDNA
GTP
GTP Name
PharmaDNA
Breed
OMIA
Gene Name
MFSD8
Mutation
c.843delT
Progènes-ADN
GTP
GTP Name
Progenes ADN
Breed
OMIA
Gene Name
MFSD8
Mutation
c.843delT
VetGen LLC
GTP
GTP Name
VetGen LLC
Breed
OMIA
Gene Name
MFSD8
Mutation
c.843delT
VHL Genetics
GTP
GTP Name
VHL Genetics
Breed
OMIA
Gene Name
MFSD8
Mutation
c.843delT
Wisdom Panel - Kinship
GTP
GTP Name
Wisdom Panel
Breed
OMIA
Gene Name
MFSD8
Mutation
c.843delT
Nature of test
mutation test
GTP- or Breed-Specific Publications
Faller, K.M., Bras, J., Sharpe, S.J., Anderson, G.W., Darwent, L., Kun-Rodrigues, C., Alroy, J., Penderis, J., Mole, S.E., Gutierrez-Quintana, R., Guerreiro, R.J. : The Chihuahua dog: A new animal mod
Application in the Breed
Carriers may be bred to normal animals (N/ncl7 x N/N) . Offspring should be tested before breeding. No breeding of two carriers (N/ncl7 x N/ncl7) nor of affected animals (ncl7/ncl7). Blindness, anxiety, and disorientation (12-18 months of age). With progression: eat non-food items, agitation, lack of coordination, increased sleeping
Inheritance
AR
FCI Number
218
GTP Breed
Chihuahuas
Zoolyx
GTP
GTP Name
Zoolyx
Breed
OMIA
Gene Name
MFSD8
Mutation
c.843delT
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