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Thrombopathia (CalDAG-GEFI)
Breed: Miniature Schnauzer/ black
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
General
Disease Name
Thrombopathia (CalDAG-GEFI)
OMIA
1003
Gene Name
RASGRP1
Mutation
452-453insA
Mutation 2
c.509_511delTCT
Mutation 3
c.982C>T
Test Type
Genetic Disease/Disorder
Details
Thrombopathia causes abnormalities in platelet signal transduction. The platelets in dogs with thrombopathia do not respond normally to the blood vessel's signals causing decreased platelet function and excessive bleeding during an injury or surgery. Small petechia under the skin and in mucus membranes also leads to occasional bleeding from the gums or nose.
Details 2
Thrombopathia causes abnormalities in platelet signal transduction. The platelets in dogs with thrombopathia do not respond normally to the blood vessel's signals causing decreased platelet function and excessive bleeding during an injury or surgery. Small petechia under the skin and in mucus membranes also leads to occasional bleeding from the gums or nose.
Patents/ Licences
US7838232 B2
Published
Boudreaux, MK., Catalfamo, JL., Klok, M. :Calcium-diacylglycerol guanine nucleotide exchange factor I gene mutations associated with loss of function in canine platelets. Transl Res 150:81-92, 2007. Pubmed reference: 17656327. DOI: 10.1016/j.trsl.2007.03.006.
Published 2
Boudreaux, MK. : Characteristics, diagnosis, and treatment of inherited platelet disorders in mammals. J Am Vet Med Assoc 233:1251-9, 1190, 2008. Pubmed reference: 18922051. DOI: 10.2460/javma.233.8.1251.
Body/System/Process
Blood
OMIA Url
Inheritance
AR
HSP Test-Specific Data
Agrotis S.r.l.
GTP
GTP Name
Agrotis S.r.l.
Breed
OMIA
Gene Name
RASGRP1
Mutation
c.982C>T
BioBank AS
GTP
GTP Name
BioBank AS
Breed
OMIA
Gene Name
RASGRP1
Mutation
c.982C>T
Certagen GmbH
GTP
GTP Name
Certagen GmbH
Breed
OMIA
Gene Name
RASGRP1
Mutation
c.982C>T
CMSCH
GTP
GTP Name
CMSCH
Breed
OMIA
Gene Name
RASGRP1
Mutation
c.982C>T
DNA My Dog
GTP
GTP Name
DNA My Dog
Breed
OMIA
GTP Disease Name
Thrombopathy
Gene Name
RASGRP1
Mutation
c.982C>T
Nature of test
mutation test
GTP- or Breed-Specific Publications
Boudreaux, MK. : Characteristics, diagnosis, and treatment of inherited platelet disorders in mammals. J Am Vet Med Assoc 233:1251-9, 1190, 2008. Pubmed reference: 18922051. DOI: 10.2460/javma.233.
Application in the Breed
Carriers may be bred to normal animals (N/t x N/N). Offspring should be tested before breeding . No breeding two carriers (N/t x N/t) nor of affected animals (t/t). Prolonged bleeding times. Small petechia under the skin and in mucus membranes also leads to occasional bleeding from the gums or nose.
Inheritance
AR
This test is outsourced to:
Orivet
FCI Number
183
GTP Breed
Miniature Schnauzer/ Black
INNO
GTP
GTP Name
INNO
Breed
OMIA
Gene Name
RASGRP1
Mutation
c.982C>T
Laboratorios Labocor S.L.
GTP
GTP Name
Laboratorios Labocor S.L.
Breed
OMIA
Gene Name
RASGRP1
Mutation
c.982C>T
Orivet Genetic Pet Care
GTP
GTP Name
Orivet Genetic Pet Care
Breed
OMIA
GTP Disease Name
Thrombopathy
Gene Name
RASGRP1
Mutation
c.982C>T
Nature of test
mutation test
GTP- or Breed-Specific Publications
Boudreaux, MK. : Characteristics, diagnosis, and treatment of inherited platelet disorders in mammals. J Am Vet Med Assoc 233:1251-9, 1190, 2008. Pubmed reference: 18922051. DOI: 10.2460/javma.233.
Application in the Breed
Carriers may be bred to normal animals (N/t x N/N). Offspring should be tested before breeding . No breeding two carriers (N/t x N/t) nor of affected animals (t/t). Prolonged bleeding times. Small petechia under the skin and in mucus membranes also leads to occasional bleeding from the gums or nose.
Inheritance
AR
FCI Number
183
GTP Breed
Miniature Schnauzer/ Black
PharmaDNA
GTP
GTP Name
PharmaDNA
Breed
OMIA
Gene Name
RASGRP1
Mutation
c.982C>T
Progènes-ADN
GTP
GTP Name
Progenes ADN
Breed
OMIA
Gene Name
RASGRP1
Mutation
c.982C>T
VHL Genetics
GTP
GTP Name
VHL Genetics
Breed
OMIA
Gene Name
RASGRP1
Mutation
c.982C>T
Zoolyx
GTP
GTP Name
Zoolyx
Breed
OMIA
Gene Name
RASGRP1
Mutation
c.982C>T
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