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Thrombopathia (CalDAG-GEFI)

Breed: Newfoundland

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 for these breeds

General

Disease Name
Thrombopathia (CalDAG-GEFI)
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.
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.

Breed Specific Data

Zoolyx

GTP
GTP Name
Zoolyx
Breed
Gene Name
RASGRP1
Mutation
c.982C>T

Progènes-ADN

GTP Name
Progenes ADN
Breed
Gene Name
RASGRP1
Mutation
c.982C>T

PharmaDNA

GTP
GTP Name
PharmaDNA
Breed
Gene Name
RASGRP1
Mutation
c.982C>T

Laboratorios Labocor S.L.

GTP Name
Laboratorios Labocor S.L.
Breed
Gene Name
RASGRP1
Mutation
c.982C>T

INNO

GTP
GTP Name
INNO
Breed
Gene Name
RASGRP1
Mutation
c.982C>T

CMSCH

GTP
GTP Name
CMSCH
Breed
Gene Name
RASGRP1
Mutation
c.982C>T

BioBank AS

GTP Name
BioBank AS
Breed
Gene Name
RASGRP1
Mutation
c.982C>T

Agrotis S.r.l.

GTP Name
Agrotis S.r.l.
Breed
Gene Name
RASGRP1
Mutation
c.982C>T

Certagen GmbH

GTP Name
Certagen GmbH
Breed
Gene Name
RASGRP1
Mutation
c.982C>T

VHL Genetics

GTP Name
VHL Genetics
Breed
Gene Name
RASGRP1
Mutation
c.982C>T

Paw Print Genetics

GTP Name
Paw Print Genetics
Breed
GTP Disease Name
Thrombopathia (Newfoundland Type)
Gene Name
RASGRP1
Mutation
c.982C>T
Nature of test
mutation test
FCI Number
50

Genoscoper Laboratories Oy

GTP Name
Genoscoper Laboratories Oy
Breed
GTP Disease Name
Thrombopathia (Newfoundland Type)
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
50
GTP Breed
Newfoundland

CAG GmbH Center for Animal Genetics

GTP Name
Center for Animal Genetics
Breed
GTP Disease Name
Thrombopathia (Newfoundland Type)
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
50
GTP Breed
Newfoundland

Antagene

GTP
GTP Name
Antagene
Breed
GTP Disease Name
Thrombopathia (Newfoundland Type)
Gene Name
RASGRP1
Mutation
c.982C>T
Nature of test
mutation test
GTP- or Breed-Specific Publications
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. P
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
50
GTP Breed
Newfoundland
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