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Hypocatalasia (Acatalasemia)
Breed: Beagle
Generic Phene Data
Breeds
Relevance Rating: There is some evidence or research available for these breeds
General
Disease Name
Hypocatalasia (Acatalasemia)
OMIA
1138
Gene Name
CAT
Gene Name 2
SLC2A9
Mutation
c.979G>A
Mutation 2
c.979G>A
Test Type
Genetic Disease/Disorder
Details
Hypocatalasia is considered to be a rare genetic disorder. Symptoms have been poorly described or are missing from the literature. It is suspected that affected dogs have a higher risk of developing open sores (ulcers) inside the mouth that may lead to gangrene of the mouth. Affected dogs most commonly show no or few signs, and the disorder is usually diagnosed when checking other symptoms.
Details 2
Hypocatalasia is a genetic disorder characterized by impaired catalase activity in the erythrocytes. Symptoms have been poorly described or are missing from the literature. It is suspected that affected dogs have a higher risk of developing open sores (ulcers) inside the mouth that may lead to gangrene. Affected dogs are most commonly asymptomatic and the disorder is usually diagnosed when checking other symptoms. When the symptoms are present, they usually include oral gangrene and ulcer. Generally considered to be rare.
Published
Nakamura, K., Watanabe, M., Takanaka, K., Sasaki, Y., Ikeda, T. : cDNA cloning of mutant catalase in acatalasemic beagle dog: single nucleotide substitution leading to thermal-instability and enhanced proteolysis of mutant enzyme International Journal of Biochemistry & Cell Biology 32:1183-1193, 2000. Pubmed reference: 11137458.
Published 2
Donner, J., Kaukonen, M., Anderson, H., Moller, F., Kyostila, K., Sankari, S., Hytonen, M., Giger, U., Lohi, H. : Genetic Panel Screening of Nearly 100 Mutations Reveals New Insights into the Breed Distribution of Risk Variants for Canine Hereditary Disorders. PLoS One 11:e0161005, 2016. Pubmed reference: 27525650. DOI: 10.1371/journal.pone.0161005.
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
CAT
Mutation
c.979G>A
BioBank AS
GTP
GTP Name
BioBank AS
Breed
OMIA
Gene Name
CAT
Mutation
c.979G>A
Certagen GmbH
GTP
GTP Name
Certagen GmbH
Breed
OMIA
Gene Name
CAT
Mutation
c.979G>A
CMSCH
GTP
GTP Name
CMSCH
Breed
OMIA
Gene Name
CAT
Mutation
c.979G>A
DNA My Dog
GTP
GTP Name
DNA My Dog
Breed
OMIA
GTP Disease Name
Catalase Deficiency
GTP Disease Synonym
hypocatalasia
Gene Name
CAT
Mutation
c.979G>A
Nature of test
mutation test
GTP- or Breed-Specific Publications
Nakamura, K., Watanabe, M., Takanaka, K., Sasaki, Y., Ikeda, T. : cDNA cloning of mutant catalase in acatalasemic beagle dog: single nucleotide substitution leading to thermal-instability and enhanced
Application in the Breed
Carriers can be bred to normal animals (N/hyp x N/N). Offspring should be tested before breeding. No breeding of two carriers (N/hyp x N/hyp) nor of affected animals (hyp/hyp). Affected animals may have progressive gangrene of the mouth
Inheritance
AR
This test is outsourced to:
Orivet
FCI Number
161
GTP Breed
Beagle
Embark
GTP
GTP Name
Embark
Breed
OMIA
GTP Disease Name
Catalase Deficiency
Gene Name
CAT
Mutation
c.979G>A
Nature of test
mutation test
GTP- or Breed-Specific Publications
Nakamura, K., Watanabe, M., Takanaka, K., Sasaki, Y., Ikeda, T. : cDNA cloning of mutant catalase in acatalasemic beagle dog: single nucleotide substitution leading to thermal-instability and enhanced
Application in the Breed
Carriers can be bred to normal animals (N/hyp x N/N). Offspring should be tested before breeding. No breeding of two carriers (N/hyp x N/hyp) nor of affected animals (hyp/hyp). Affected animals may have progressive gangrene of the mouth
Inheritance
AR
FCI Number
161
GTP Breed
Beagle
Genomia s.r.o
GTP
GTP Name
Genomia s.r.o
Breed
OMIA
Gene Name
CAT
Mutation
c.979G>A
Mutation Comment
g.33397548G>A
INNO
GTP
GTP Name
INNO
Breed
OMIA
Gene Name
CAT
Mutation
c.979G>A
Laboratorios Labocor S.L.
GTP
GTP Name
Laboratorios Labocor S.L.
Breed
OMIA
Gene Name
CAT
Mutation
c.979G>A
Laboklin Gmbh & Co. KG
GTP
GTP Name
Laboklin Gmbh & Co. KG
Breed
OMIA
GTP Disease Name
Catalase Deficiency
Gene Name
CAT
Mutation
c.979G>A
Nature of test
mutation test
FCI Number
161
Orivet Genetic Pet Care
GTP
GTP Name
Orivet Genetic Pet Care
Breed
OMIA
GTP Disease Name
Catalase Deficiency
GTP Disease Synonym
hypocatalasia
Gene Name
CAT
Mutation
c.979G>A
Nature of test
mutation test
GTP- or Breed-Specific Publications
Nakamura, K., Watanabe, M., Takanaka, K., Sasaki, Y., Ikeda, T. : cDNA cloning of mutant catalase in acatalasemic beagle dog: single nucleotide substitution leading to thermal-instability and enhanced
Application in the Breed
Carriers can be bred to normal animals (N/hyp x N/N). Offspring should be tested before breeding. No breeding of two carriers (N/hyp x N/hyp) nor of affected animals (hyp/hyp). Affected animals may have progressive gangrene of the mouth
Inheritance
AR
FCI Number
161
GTP Breed
Beagle
PharmaDNA
GTP
GTP Name
PharmaDNA
Breed
OMIA
Gene Name
CAT
Mutation
c.979G>A
Progènes-ADN
GTP
GTP Name
Progenes ADN
Breed
OMIA
Gene Name
CAT
Mutation
c.979G>A
VetGen LLC
GTP
GTP Name
VetGen LLC
Breed
OMIA
Gene Name
CAT
Mutation
c.979G>A
VHL Genetics/ Combibreed
GTP
GTP Name
VHL Genetics
Breed
OMIA
Gene Name
CAT
Mutation
c.979G>A
Weatherbys Scientific
GTP
GTP Name
Weatherbys Scientific
Breed
OMIA
GTP Disease Name
Catalase Deficiency
Gene Name
CAT
Mutation
c.979G>A
Wisdom Panel - Kinship
GTP
GTP Name
Wisdom Panel - Kinship
Breed
OMIA
GTP Disease Name
Catalase Deficiency
GTP Disease Synonym
hypocatalasia
Gene Name
CAT
Mutation
c.979G>A
Nature of test
mutation test
GTP- or Breed-Specific Publications
Nakamura, K., Watanabe, M., Takanaka, K., Sasaki, Y., Ikeda, T. : cDNA cloning of mutant catalase in acatalasemic beagle dog: single nucleotide substitution leading to thermal-instability and enhanced
Application in the Breed
Carriers can be bred to normal animals (N/hyp x N/N). Offspring should be tested before breeding. No breeding of two carriers (N/hyp x N/hyp) nor of affected animals (hyp/hyp). Affected animals may have progressive gangrene of the mouth
Inheritance
AR
FCI Number
161
GTP Breed
Beagle
Zoolyx
GTP
GTP Name
Zoolyx
Breed
OMIA
Gene Name
CAT
Mutation
c.979G>A
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