Neuronal Ceroid Lipofuscinosis 1 (NCL1)
Breed: Miniature Dachshund/ smoothhaired
Generic Phene Data
Breeds
Relevance Rating: There is some evidence or research available for these 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
GTPs
General
Disease Name
Neuronal Ceroid Lipofuscinosis 1 (NCL1)
OMIA
1504
Gene Name
PPT1
Mutation
c.4009C>T
Mutation 2
c.736_737insC
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. Severe vision loss or full blindness. By 9 months of age weakness, trouble balancing, difficulty walking, a rounded back, nervousness and disorientation
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. Severe vision loss or full blindness. By 9 months of age weakness, trouble balancing, difficulty walking, a rounded back, nervousness and disorientation
Published
Sanders, DN., Farias, FH., Johnson, GS., Chiang, V., Cook, JR., O'Brien, DP., Hofmann, SL., Lu, JY., Katz, ML. : A mutation in canine PPT1 causes early onset neuronal ceroid lipofuscinosis in a Dac
Published 2
TECPR2 Associated Neuroaxonal Dystrophy in Spanish Water Dogs. PLoS One 10:e0141824, 2015. Pubmed reference: 26555167. DOI: 10.1371/journal.pone.0141824.
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
PPT1
Mutation
c.736_737insC
Anicom Specialty Medical Institute Inc.
GTP
GTP Name
Anicom
Breed
OMIA
Gene Name
PPT1
Mutation
c.736_737insC
BioBank AS
GTP
GTP Name
BioBank AS
Breed
OMIA
Gene Name
PPT1
Mutation
c.736_737insC
Generatio GmbH Center for Animal Genetics
GTP
GTP Name
Generatio GmbH Center for Animal Genetics
Breed
OMIA
Gene Name
PPT1
Mutation
c.736_737insC
Certagen GmbH
GTP
GTP Name
Certagen GmbH
Breed
OMIA
Gene Name
PPT1
Mutation
c.736_737insC
CMSCH
GTP
GTP Name
CMSCH
Breed
OMIA
Gene Name
PPT1
Mutation
c.736_737insC
Genomia s.r.o
GTP
GTP Name
Genomia s.r.o
Breed
OMIA
GTP Disease Synonym
NCL1
Gene Name
PPT1
Mutation
c.736_737insC
Mutation Comment
g.2883477_2883478insC
INNO
GTP
GTP Name
INNO
Breed
OMIA
Gene Name
PPT1
Mutation
c.736_737insC
Laboratorios Labocor S.L.
GTP
GTP Name
Laboratorios Labocor S.L.
Breed
OMIA
Gene Name
PPT1
Mutation
c.736_737insC
Laboklin Gmbh & Co. KG
GTP
GTP Name
Laboklin Gmbh & Co. KG
Breed
OMIA
Gene Name
PPT1
Mutation
c.736_737insC
Nature of test
mutation test
FCI Number
148
GTP Breed
Miniature Dachshund/ Smoothhaired
Paw Print Genetics
GTP
GTP Name
Paw Print Genetics
Breed
OMIA
Gene Name
PPT1
Mutation
c.736_737insC
Nature of test
mutation test
FCI Number
148
GTP Breed
Miniature Dachshund/ Smoothhaired
PharmaDNA
GTP
GTP Name
PharmaDNA
Breed
OMIA
Gene Name
PPT1
Mutation
c.736_737insC
Independent Veterinary Laboratory POISK
GTP
GTP Name
Independent Veterinary Laboratory POISK
Breed
OMIA
Gene Name
PPT1
Mutation
c.736_737insC
Progènes-ADN
GTP
GTP Name
Progenes ADN
Breed
OMIA
Gene Name
PPT1
Mutation
c.736_737insC
VetGen LLC
GTP
GTP Name
VetGen LLC
Breed
OMIA
Gene Name
PPT1
Mutation
c.736_737insC
VHL Genetics
GTP
GTP Name
VHL Genetics
Breed
OMIA
Gene Name
PPT1
Mutation
c.736_737insC
Zoolyx
GTP
GTP Name
Zoolyx
Breed
OMIA
Gene Name
PPT1
Mutation
c.736_737insC