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Thrombopathia (CalDAG-GEFI)

Breed: Landseer/ European continental type

Generic Phene Data

General

Disease Name
Thrombopathia (CalDAG-GEFI)
Mutation
452-453insA
Mutation 2
c.509_511delTCT
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

Antagene

GTP
GTP Name
Antagene
Gene Name
RASGRP1
Mutation
c.982C>T
Inheritance
AR
GTP Breed
Landseer/ European continental type

BioBank AS

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

CAG GmbH Center for Animal Genetics

GTP Name
Center for Animal Genetics
Gene Name
RASGRP1
Mutation
c.982C>T
Inheritance
AR
GTP Breed
Landseer/ European continental type

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

Genomia s.r.o

GTP Name
Genomia s.r.o
Gene Name
RASGRP1
Mutation
c.982C>T
GTP Breed
Landseer/ European continental type

Genoscoper Laboratories Oy

GTP Name
Genoscoper Laboratories Oy
Gene Name
RASGRP1
Mutation
c.982C>T
Inheritance
AR
GTP Breed
Landseer/ European continental type

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

Paw Print Genetics

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

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

VetGen LLC

GTP Name
VetGen LLC
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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