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Thrombopathia (CalDAG-GEFI)

Breed: Miniature Schnauzer/ Black

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.
Gene Name
RASGRP1
Mutation
c.982C>T

BioBank AS

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

Certagen GmbH

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

CMSCH

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

DNA My Dog

GTP Name
DNA My Dog
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
Gene Name
RASGRP1
Mutation
c.982C>T

Laboratorios Labocor S.L.

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

Orivet Genetic Pet Care

GTP Name
Orivet Genetic Pet Care
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
Gene Name
RASGRP1
Mutation
c.982C>T

Progènes-ADN

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

VHL Genetics

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

Zoolyx

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