GM1 Gangliosidosis
Breed: Portuguese Water Dog/ Cão de Agua Português
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
GM1 Gangliosidosis
OMIA
402
Gene Name
GLB1
Mutation
c.1647delC
Mutation 2
c.1688_1706ins19bp dup
Mutation 3
c.200G>A
Test Type
Genetic Disease/Disorder
Details
Gangliosidosis is a rare metabolic disorder in dogs. It is commonly known as storage disease because dogs that suffer from it lack an enzyme in their brain that helps with the breakdown of old molecules which build up in the brain effecting the nervous system. Generalised symptoms can vary greatly between dogs but can include: lack of coordination, depression, behavioral changes, head shaking, mental dullness, seizures, blindness, deafness, developmental delay. Specific to GM1: proportional dwarfism & neurologic dysfunction ( 6-8 weeks of age). Clinical progression leading to death (< 1 year of age).
Details 2
Gangliosidosis is a lysosomal storage disease caused by beta galactosidase deficiency and characterized by progressive neurological deterioration. It is caused by breed-specific mutations. It is commonly known as storage disease because dogs that suffer from it lack an enzyme in their brain that helps with the breakdown of old molecules which build up in the brain effecting the nervous system. Generalised symptoms can vary greatly between dogs but can include: lack of coordination, depression, behavioral changes, head shaking, mental dullness, seizures, blindness, deafness, developmental delay. Specific to GM1: proportional dwarfism & neurologic dysfunction ( 6-8 weeks of age). Clinical progression leading to death (< 1 year of age).
Patents/ Licences
License: OptiGen, for the Portuguese Water Dog - US.(please note that patent and licensing laws and coverage vary by country)
Published
Yamato, O., Ochiai, K., Masuoka, Y., Hayashida, E., Tajima, M., Omae, S., Iijima, M., Umemura, T., Maede, Y. :GM1 gangliosidosis in shiba dogs Veterinary Record 146:493-496, 2000. Pubmed reference: 10887996.
Published 2
Kreutzer, R., Leeb, T., Muller, G., Moritz, A., Baumgartner, W. :A duplication in the canine beta-galactosidase gene GLB1 causes exon skipping and GM1-gangliosidosis in Alaskan huskies. Genetics 170:1857-61, 2005. Pubmed reference: 15944348. DOI: 10.1534/genetics.105.042580.
Published 3
Wang, Z.H., Zeng, B., Shibuya, H., Johnson, G.S., Alroy, J., Pastores, G.M., Raghavan, S., Kolodny, E.H.: Isolation and characterization of the normal canine beta-galactosidase gene and its mutation in a dog model of GM1-gangliosidosis. J Inherit Metab Dis 23:593-606, 2000. Pubmed reference: 11032334
Body/System/Process
Metabolic
OMIA Url
Inheritance
AR
Breed Specific Info
Researched Breeds
Alaskan Husky, Beagle, English Springer Spaniel, Portugese Water Dog, Shiba Inu
HSP Test-Specific Data
AnimaLabs
GTP
GTP Name
AnimaLabs
Breed
OMIA
Zoolyx
GTP
GTP Name
Zoolyx
Breed
OMIA
Gene Name
GLB1
Mutation
c.1647delC
Weatherbys Scientific
GTP
GTP Name
Weatherbys Scientific
Breed
OMIA
GTP Disease Name
GM1 Gangliosidosis (Portuguese Water Dog Type)
Gene Name
GLB1
Mutation
c.200G>A
VHL Genetics
GTP
GTP Name
VHL Genetics
Breed
OMIA
Gene Name
GLB1
Mutation
c.1647delC
Progènes-ADN
GTP
GTP Name
Progenes ADN
Breed
OMIA
Gene Name
GLB1
Mutation
c.1647delC
PharmaDNA
GTP
GTP Name
PharmaDNA
Breed
OMIA
Gene Name
GLB1
Mutation
c.1647delC
Paw Print Genetics
GTP
GTP Name
Paw Print Genetics
Breed
OMIA
GTP Disease Name
GM1 Gangliosidosis (Portuguese Water Dog Type)
Gene Name
GLB1
Mutation
c.1647delC; c.1688_1706ins19bp dup; c.200G>A
Nature of test
mutation test
FCI Number
37
Orivet Genetic Pet Care
GTP
GTP Name
Orivet Genetic Pet Care
Breed
OMIA
GTP Disease Name
GM1 Gangliosidosis (Portuguese Water Dog Type)
Gene Name
GLB1
Mutation
c.200G>A
Nature of test
mutation test
GTP- or Breed-Specific Publications
Wang, Z.H., Zeng, B., Shibuya, H., Johnson, G.S., Alroy, J., Pastores, G.M., Raghavan, S., Kolodny, E.H.: Isolation and characterization of the normal canine beta-galactosidase gene and its mutation i
Application in the Breed
Carriers can be bred to normal animals (N/gm1g x N/N) Offspring should be tested before breeding. No breeding of two carriers (N/gm1g x N/gm1g). Proportional dwarfism & neurologic dysfunction ( 6-8 weeks of age). Clinical progression leading to death (< 1 year of age).
Inheritance
AR
FCI Number
37
GTP Breed
Portuguese water dog/ Cão de água português
Laboratorios Labocor S.L.
GTP
GTP Name
Laboratorios Labocor S.L.
Breed
OMIA
Gene Name
GLB1
Mutation
c.1647delC
Laboklin Gmbh & Co. KG
GTP
GTP Name
Laboklin Gmbh & Co. KG
Breed
OMIA
GTP Disease Name
GM1 Gangliosidosis (Portuguese Water Dog Type)
Gene Name
GLB1
Mutation
c.1647delC; c.1688_1706ins19bp dup; c.200G>A
Nature of test
mutation test
GTP- or Breed-Specific Publications
Wang, Z.H., Zeng, B., Shibuya, H., Johnson, G.S., Alroy, J., Pastores, G.M., Raghavan, S., Kolodny, E.H.: Isolation and characterization of the normal canine beta-galactosidase gene and its mutation i
Application in the Breed
Carriers can be bred to normal animals (N/gm1g x N/N) Offspring should be tested before breeding. No breeding of two carriers (N/gm1g x N/gm1g). Proportional dwarfism & neurologic dysfunction ( 6-8 weeks of age). Clinical progression leading to death (< 1 year of age).
Inheritance
AR
FCI Number
37
GTP Breed
Portuguese water dog/ Cão de água português
INNO
GTP
GTP Name
INNO
Breed
OMIA
Gene Name
GLB1
Mutation
c.1647delC
Genomia s.r.o
GTP
GTP Name
Genomia s.r.o
Breed
OMIA
GTP Disease Name
GM1 Gangliosidosis (Portuguese Water Dog Type)
Gene Name
GLB1
Mutation
c.179G>A
Mutation Comment
g.3754313G>A
Nature of test
mutation test
FCI Number
37
GTP Breed
Portuguese water dog/ Cão de água português
EVG Diagnostics
GTP
GTP Name
EVG Molecular Diagnostics
Breed
OMIA
Gene Name
GLB1
Mutation
c.200G>A
Embark
GTP
GTP Name
Embark
Breed
OMIA
GTP Disease Name
GM1 Gangliosidosis (Portuguese Water Dog Type)
Gene Name
GLB1
Mutation
c.200G>A
Nature of test
mutation test
GTP- or Breed-Specific Publications
Wang, Z.H., Zeng, B., Shibuya, H., Johnson, G.S., Alroy, J., Pastores, G.M., Raghavan, S., Kolodny, E.H.: Isolation and characterization of the normal canine beta-galactosidase gene and its mutation i
Application in the Breed
Carriers can be bred to normal animals (N/gm1g x N/N) Offspring should be tested before breeding. No breeding of two carriers (N/gm1g x N/gm1g). Proportional dwarfism & neurologic dysfunction ( 6-8 weeks of age). Clinical progression leading to death (< 1 year of age).
Inheritance
AR
FCI Number
37
GTP Breed
Portuguese water dog/ Cão de água português
DNA My Dog
GTP
GTP Name
DNA My Dog
Breed
OMIA
GTP Disease Name
GM1 Gangliosidosis (Portuguese Water Dog Type)
Gene Name
GLB1
Mutation
c.200G>A
Nature of test
mutation test
GTP- or Breed-Specific Publications
Wang, Z.H., Zeng, B., Shibuya, H., Johnson, G.S., Alroy, J., Pastores, G.M., Raghavan, S., Kolodny, E.H.: Isolation and characterization of the normal canine beta-galactosidase gene and its mutation i
Application in the Breed
Carriers can be bred to normal animals (N/gm1g x N/N) Offspring should be tested before breeding. No breeding of two carriers (N/gm1g x N/gm1g). Proportional dwarfism & neurologic dysfunction ( 6-8 weeks of age). Clinical progression leading to death (< 1 year of age).
Inheritance
AR
This test is outsourced to:
Orivet
FCI Number
37
GTP Breed
Portuguese water dog/ Cão de água português
CMSCH
GTP
GTP Name
CMSCH
Breed
OMIA
Gene Name
GLB1
Mutation
c.1647delC
Certagen GmbH
GTP
GTP Name
Certagen GmbH
Breed
OMIA
Gene Name
GLB1
Mutation
c.1647delC
BioBank AS
GTP
GTP Name
BioBank AS
Breed
OMIA
Gene Name
GLB1
Mutation
c.1647delC
Anicom Specialty Medical Institute Inc.
GTP
GTP Name
Anicom
Breed
OMIA
GTP Disease Name
GM1 Gangliosidosis (Portuguese Water Dog Type)
Gene Name
GLB1
Mutation
c.200G>A
Agrotis S.r.l.
GTP
GTP Name
Agrotis S.r.l.
Breed
OMIA
Gene Name
GLB1
Mutation
c.1647delC