Donate
Neuronal Ceroid Lipofuscinosis 7 (NCL7)
Breed: Chinese Crested Dogs
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
Inheritance
AR
HSP Test-Specific Data
Agrotis S.r.l.
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
288
GTP Breed
Chinese crested dogs
BioBank AS
Certagen GmbH
CMSCH
INNO
Laboratorios Labocor S.L.
PharmaDNA
Progènes-ADN
VetGen LLC
VHL Genetics/ Combibreed
Wisdom Panel - Kinship
GTP
GTP Name
Wisdom Panel - Kinship
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
288
GTP Breed
Chinese crested dogs
