Donate
GM2 Gangliosidosis Type I (B Variant)
Breed: Japanese Chin
Generic Phene Data
Breeds
Relevance Rating: There is some evidence or research available in this breed
General
Disease Name
GM2 Gangliosidosis Type I (B Variant)
OMIA
1461
Gene Name
HEXA
Mutation
c967G>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 GM2-B: difficulty moving and keeping their balance, vision problems, altered mental status (1 and 2 years)
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 GM2-B: difficulty moving and keeping their balance, vision problems, altered mental status (1 and 2 years)
Published
Sanders, D.N., Zeng, R., Wenger, D.A., Johnson, G.S., Johnson, G.C., Decker, J.E., Katz, M.L., Platt, S.R., O'Brien, D.P. : GM2 gangliosidosis associated with a HEXA missense mutation in Japanese Chin dogs: a potential model for Tay Sachs disease. Mol Genet Metab 108:70-5, 2013. Pubmed reference: 23266199. DOI: 10.1016/j.ymgme.2012.11.008.
Published 2
Freeman, A.C., Platt, S.R., Vandenberg, M., Holmes, S., Kent, M., Rech, R., Howerth, E., Mishra, S., O'Brien, D.P., Wenger, D. : GM2 gangliosidosis (B variant) in two Japanese Chins: clinical, magnetic resonance imaging and pathological characteristics. J Vet Intern Med 27:771-6, 2013. Pubmed reference: 23731274. DOI: 10.1111/jvim.12118.
Body/System/Process
Metabolic
OMIA Url
Inheritance
AR
Breed Specific Info
Researched Breeds
Japanese Chin
HSP Test-Specific Data
DNA My Dog
GTP
GTP Name
DNA My Dog
Breed
OMIA
GTP Disease Name
Tay Sachs Disease
GTP Disease Synonym
GM2 Gangliosidosis - Type 1
Gene Name
HEXA
Mutation
c967G>A
Nature of test
mutation test
GTP- or Breed-Specific Publications
Sanders, D.N., Zeng, R., Wenger, D.A., Johnson, G.S., Johnson, G.C., Decker, J.E., Katz, M.L., Platt, S.R., O'Brien, D.P. : GM2 gangliosidosis associated with a HEXA missense mutation in Japanese Chin
Application in the Breed
Carriers may be bred to normal animals (N/gm2g1b x N/N). Offspring should be tested before breeding . No breeding of two carriers (N/gm2g1b x N/gm2g1b)nor of affected animals (gm2g1b/gm2g1b). Difficulty moving and keeping their balance, vision problems, altered mental status (1 and 2 years)
Inheritance
AR
This test is outsourced to:
Orivet
FCI Number
206
GTP Breed
Japanese Chin
Embark
GTP
GTP Name
Embark
Breed
OMIA
GTP Disease Name
Tay Sachs Disease
GTP Disease Synonym
GM2 Gangliosidosis type I (B Variant)
Gene Name
HEXA
Mutation
c967G>A
Nature of test
mutation test
GTP- or Breed-Specific Publications
Sanders, D.N., Zeng, R., Wenger, D.A., Johnson, G.S., Johnson, G.C., Decker, J.E., Katz, M.L., Platt, S.R., O'Brien, D.P. : GM2 gangliosidosis associated with a HEXA missense mutation in Japanese Chin
Application in the Breed
Carriers may be bred to normal animals (N/gm2g1b x N/N). Offspring should be tested before breeding . No breeding of two carriers (N/gm2g1b x N/gm2g1b)nor of affected animals (gm2g1b/gm2g1b). Difficulty moving and keeping their balance, vision problems, altered mental status (1 and 2 years)
Inheritance
AR
FCI Number
206
GTP Breed
Japanese Chin
Laboklin Gmbh & Co. KG
GTP
GTP Name
Laboklin Gmbh & Co. KG
Breed
OMIA
GTP Disease Name
Tay Sachs Disease
Gene Name
HEXA
Mutation
c967G>A
Nature of test
mutation test
FCI Number
206
Orthopedic Foundation for Animals
GTP
GTP Name
Orthopedic Foundation for Animals
Breed
OMIA
GTP Disease Name
Tay Sachs Disease
GTP Disease Synonym
GM2 Gangliosidosis - Type 1
Gene Name
HEXA
Mutation
c967G>A
Nature of test
mutation test
GTP- or Breed-Specific Publications
Sanders, D.N., Zeng, R., Wenger, D.A., Johnson, G.S., Johnson, G.C., Decker, J.E., Katz, M.L., Platt, S.R., O'Brien, D.P. : GM2 gangliosidosis associated with a HEXA missense mutation in Japanese Chin
Application in the Breed
Carriers may be bred to normal animals (N/gm2g1b x N/N). Offspring should be tested before breeding . No breeding of two carriers (N/gm2g1b x N/gm2g1b)nor of affected animals (gm2g1b/gm2g1b). Difficulty moving and keeping their balance, vision problems, altered mental status (1 and 2 years)
Inheritance
AR
FCI Number
206
GTP Breed
Japanese Chin
Orivet Genetic Pet Care
GTP
GTP Name
Orivet Genetic Pet Care
Breed
OMIA
GTP Disease Name
Tay Sachs Disease
GTP Disease Synonym
GM2 Gangliosidosis - Type 1
Gene Name
HEXA
Mutation
c967G>A
Nature of test
mutation test
GTP- or Breed-Specific Publications
Sanders, D.N., Zeng, R., Wenger, D.A., Johnson, G.S., Johnson, G.C., Decker, J.E., Katz, M.L., Platt, S.R., O'Brien, D.P. : GM2 gangliosidosis associated with a HEXA missense mutation in Japanese Chin
Application in the Breed
Carriers may be bred to normal animals (N/gm2g1b x N/N). Offspring should be tested before breeding . No breeding of two carriers (N/gm2g1b x N/gm2g1b)nor of affected animals (gm2g1b/gm2g1b). Difficulty moving and keeping their balance, vision problems, altered mental status (1 and 2 years)
Inheritance
AR
FCI Number
206
GTP Breed
Japanese Chin
VetGen LLC
GTP
GTP Name
VetGen LLC
Breed
OMIA
Gene Name
HEXA
Mutation
c.967G>A
Wisdom Panel - Kinship
GTP
GTP Name
Wisdom Panel - Kinship
Breed
OMIA
GTP Disease Name
Tay Sachs Disease
GTP Disease Synonym
GM2 Gangliosidosis - Type 1
Gene Name
HEXA
Mutation
c967G>A
Nature of test
mutation test
GTP- or Breed-Specific Publications
Sanders, D.N., Zeng, R., Wenger, D.A., Johnson, G.S., Johnson, G.C., Decker, J.E., Katz, M.L., Platt, S.R., O'Brien, D.P. : GM2 gangliosidosis associated with a HEXA missense mutation in Japanese Chin
Application in the Breed
Carriers may be bred to normal animals (N/gm2g1b x N/N). Offspring should be tested before breeding . No breeding of two carriers (N/gm2g1b x N/gm2g1b)nor of affected animals (gm2g1b/gm2g1b). Difficulty moving and keeping their balance, vision problems, altered mental status (1 and 2 years)
Inheritance
AR
FCI Number
206
GTP Breed
Japanese Chin
AnimaLabs
GTP
GTP Name
AnimaLabs
Breed
OMIA
-
HGTD Quick Search
-
The portal for Genetic Testing Providers (labs); genetic tests, and tests by breed: as well as information on quality indicators and genetic counseling resources.
GOAL: Robust genetic testing supporting health improvements & a sustainable future for healthy dogs. -
HGTD Database Resources
How to use the HGTD
Using HGTD - YouTube Videos
HGTD Quality Indicators
Acronyms - Mode of Inheritance♦ 2020-New What is a Relevance Rating?
FAQs
Answers to frequently asked questions about the HGTD
Accreditation Basics
This brief overview may help you identify what types of accreditation are important to you, when choosing your genetic test provider.
Accreditation and Industry Standards
List of organizations throughout the world that are involved in matters of accreditation and establishing industry standards.
Choosing a Genetic Test Provider
Choosing a genetic test provider can be daunting. This short article helps you to consider what is important to you, and your dogs, in finding the right test provider for you. -
The HGTD's genetic counselling resources index provides access to basic introductory articles on genetics, articles on application of genetics in breed health management, and advanced work in technical genetics research. Breed-specific information is also available in our Pedigreed Dogs Database.
