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C3 Deficiency
Breed: Brittany
Generic Phene Data
Breeds
Relevance Rating: There is moderate evidence or research available in this breed
General
Disease Name
C3 Deficiency
OMIA
155
Gene Name
C3
Mutation
c.2136delC
Test Type
Genetic Disease/Disorder
Details
Complement 3 deficiency effects the immune system by a lack of the protein complement component 3 (C3). C3 plays an important role in preventing bacterial infection, and a deficiency results in the body having a greatly reduced immune response, leaving the affected animals susceptible to frequent bacterial infections. Age of onset appears to most commonly be younger dogs, with affected dogs having reoccurring bacterial infections, including pneumonia, urinary tract infections and uterine infections. C3 deficiency predisposes affected dogs to kidney disease early in life, and/or chronic kidney failure.
Details 2
Complement 3 deficiency effects the immune system by a lack of the protein complement component 3 (C3). C3 plays an important role in preventing bacterial infection, and a deficiency results in the body having a greatly reduced immune response, leaving the affected animals susceptible to frequent bacterial infections. Age of onset appears to most commonly be younger dogs, with affected dogs having reoccurring bacterial infections, including pneumonia, urinary tract infections and uterine infections. C3 deficiency predisposes affected dogs to kidney disease (membranoproliferative glomerulonephritis) early in life, and/or chronic kidney failure.
Published
Ameratunga, R., Winkelstein, J.A., Brody, L., Binns, M., Cork, L.C., Colombani, P., Valle, D. :Molecular analysis of the third component of canine complement (C3) and identification of the mutation responsible for hereditary canine C3 deficiency. J Immunol 160:2824-30, 1998. Pubmed reference: 9510185.
Body/System/Process
Autoimmune
OMIA Url
Inheritance
AR
HSP Test-Specific Data
Agrotis S.r.l.
GTP
GTP Name
Agrotis S.r.l.
Breed
OMIA
Gene Name
C3
Mutation
c.2136delC
BioBank AS
GTP
GTP Name
BioBank AS
Breed
OMIA
Gene Name
C3
Mutation
c.2136delC
Generatio GmbH Center for Animal Genetics
GTP
GTP Name
Generatio GmbH Center for Animal Genetics
Breed
OMIA
GTP Disease Name
Complement 3 Deficiency
GTP Disease Synonym
Immunodeficiency in Brittany spaniels
Gene Name
C3
Mutation
c.2136delC
Certagen GmbH
GTP
GTP Name
Certagen GmbH
Breed
OMIA
Gene Name
C3
Mutation
c.2136delC
CMSCH
GTP
GTP Name
CMSCH
Breed
OMIA
Gene Name
C3
Mutation
c.2136delC
INNO
GTP
GTP Name
INNO
Breed
OMIA
Gene Name
C3
Mutation
c.2136delC
Laboratorios Labocor S.L.
GTP
GTP Name
Laboratorios Labocor S.L.
Breed
OMIA
Gene Name
C3
Mutation
c.2136delC
Laboklin Gmbh & Co. KG
GTP
GTP Name
Laboklin Gmbh & Co. KG
Breed
OMIA
GTP Disease Name
Complement 3 Deficiency
Gene Name
C3
Mutation
c.2136delC
Nature of test
mutation test
FCI Number
95
Paw Print Genetics
GTP
GTP Name
Paw Print Genetics
Breed
OMIA
GTP Disease Name
Complement 3 Deficiency
GTP Disease Synonym
Immunodeficiency in Brittany spaniels
Gene Name
C3
Mutation
c.2136delC
Nature of test
mutation test
FCI Number
95
GTP Breed
Brittany
PharmaDNA
GTP
GTP Name
PharmaDNA
Breed
OMIA
Gene Name
C3
Mutation
c.2136delC
Progènes-ADN
GTP
GTP Name
Progenes ADN
Breed
OMIA
Gene Name
C3
Mutation
c.2136delC
VHL Genetics
GTP
GTP Name
VHL Genetics
Breed
OMIA
Gene Name
C3
Mutation
c.2136delC
Wisdom Panel - Kinship
GTP
GTP Name
Wisdom Panel - Kinship
Breed
OMIA
GTP Disease Name
Complement 3 Deficiency
GTP Disease Synonym
Immunodeficiency in Brittany spaniels
Gene Name
C3
Mutation
c.2136delC
Nature of test
mutation test
GTP- or Breed-Specific Publications
Ameratunga, R., Winkelstein, J.A., Brody, L., Binns, M., Cork, L.C., Colombani, P., Valle, D. :Molecular analysis of the third component of canine complement (C3) and identification of the mutation re
Application in the Breed
Carriers may be bred to normal animals (N/c3d x N/N) . Offspring should be tested before breeding . No breeding of two carriers (N/c3d x N/c3d) nor of affected animals (c3d/c3d), susceptible to frequent bacterial infections. Kidney disease (membranoproliferative glomerulonephritis) is also common
Inheritance
AR
FCI Number
95
GTP Breed
Brittany
Zoolyx
GTP
GTP Name
Zoolyx
Breed
OMIA
Gene Name
C3
Mutation
c.2136delC
AnimaLabs
GTP
GTP Name
AnimaLabs
Breed
OMIA
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