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Thrombopathia (CalDAG-GEFI)

Breed: Basset hound

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

Agrotis S.r.l.

GTP Name
Agrotis S.r.l.
Breed
Gene Name
RASGRP1
Mutation
c.509_511delTCT; 452-453insA

BioBank AS

GTP Name
BioBank AS
Breed
Gene Name
RASGRP1
Mutation
c.509_511delTCT; 452-453insA

CAG GmbH Center for Animal Genetics

GTP Name
Center for Animal Genetics
Breed
GTP Disease Name
Thrombopathia (Basset Hound Type)
Gene Name
RASGRP1
Mutation
c.509_511delTCT
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
163
GTP Breed
Basset hound

Certagen GmbH

GTP Name
Certagen GmbH
Breed
Gene Name
RASGRP1
Mutation
c.509_511delTCT; 452-453insA

CMSCH

GTP
GTP Name
CMSCH
Breed
Gene Name
RASGRP1
Mutation
c.509_511delTCT; 452-453insA

DNA My Dog

GTP Name
DNA My Dog
Breed
GTP Disease Name
Thrombopathia (Basset Hound Type)
Gene Name
RASGRP1
Mutation
452-453insA
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
This test is outsourced to:
Orivet
FCI Number
163
GTP Breed
Basset hound

Genoscoper Laboratories Oy

GTP Name
Genoscoper Laboratories Oy
Breed
GTP Disease Name
Thrombopathia (Basset Hound Type)
Gene Name
RASGRP1
Mutation
c.509_511delTCT
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
163
GTP Breed
Basset hound

INNO

GTP
GTP Name
INNO
Breed
Gene Name
RASGRP1
Mutation
c.509_511delTCT; 452-453insA

Laboratorios Labocor S.L.

GTP Name
Laboratorios Labocor S.L.
Breed
Gene Name
RASGRP1
Mutation
c.509_511delTCT; 452-453insA

Orivet Genetic Pet Care

GTP Name
Orivet Genetic Pet Care
Breed
GTP Disease Name
Thrombopathia (Basset Hound Type)
Gene Name
RASGRP1
Mutation
452-453insA
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
163
GTP Breed
Basset hound

Paw Print Genetics

GTP Name
Paw Print Genetics
Breed
GTP Disease Name
Thrombopathia (Basset Hound Type)
Gene Name
RASGRP1
Mutation
c.509_511delTCT
Nature of test
mutation test
FCI Number
163

PharmaDNA

GTP
GTP Name
PharmaDNA
Breed
Gene Name
RASGRP1
Mutation
c.509_511delTCT; 452-453insA

Progènes-ADN

GTP Name
Progenes ADN
Breed
Gene Name
RASGRP1
Mutation
c.509_511delTCT; 452-453insA

VetGen LLC

GTP Name
VetGen LLC
Breed
Gene Name
RASGRP1
Mutation
c.509_511delTCT

VHL Genetics

GTP Name
VHL Genetics
Breed
Gene Name
RASGRP1
Mutation
c.509_511delTCT; 452-453insA

Zoolyx

GTP
GTP Name
Zoolyx
Breed
Gene Name
RASGRP1
Mutation
c.509_511delTCT; 452-453insA
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