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GM2 Gangliosidosis Type I (B Variant)

Breed: Japanese Chin

Generic Phene Data

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 in this breed

General

Disease Name
GM2 Gangliosidosis Type I (B Variant)
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.

Breed Specific Data

CAG GmbH Center for Animal Genetics

GTP Name
Center for Animal Genetics
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

DNA My Dog

GTP Name
DNA My Dog
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
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

Genoscoper Laboratories Oy

GTP Name
Genoscoper Laboratories Oy
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

Laboklin Gmbh & Co. KG

GTP Name
Laboklin Gmbh & Co. KG
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 Name
Orthopedic Foundation for Animals
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 Name
Orivet Genetic Pet Care
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 Name
VetGen LLC
Gene Name
HEXA
Mutation
c.967G>A

Wisdom Health (formerly Mars Veterinary)

GTP Name
Wisdom Health (formerly Mars Veterinary)
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
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