Chondrodysplasia, Disproportionate Short-limbed
Breed: Karelian Bear Dog
Generic Phene Data
Breeds
Relevance Rating: There is some evidence or research available in this breed
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
Chondrodysplasia, Disproportionate Short-limbed
OMIA
1886
Gene Name
ITGA10
Mutation
c.2083C>T
Test Type
Genetic Disease/Disorder
Details
reductions in length of long bones and torso, along with bowed front legs and growth plate disruptions
Details 2
As reported by Bingel and Sande (1982): "Radiographic changes included flaring and increased width of the distal metaphyses of the radius and ulna, delayed ossification of the cuboid bones of the carpus, and reduction in length of the vertebral bodies. The zone of chondrocyte proliferation was decreased in width and contained areas of abnormal cell column formation alternated with wide areas of matrix. Chondrocytes in all zones contained one or more inclusions bounded by a smooth discontinuous membrane. The material within the inclusions appeared homogeneous and stained blue-green with Movat's pentachrome and deep blue with alcian blue-periodic acid-Schiff at pH 1.0 and 2.6. The distribution of ruthenium red granules in the matrix frequently revealed poor differentiation into territorial and interterritorial zones". (from OMIA)
Published 2
Kyostila, K., Lappalainen, A.K., Lohi, H. : Canine Chondrodysplasia Caused by a Truncating Mutation in Collagen-Binding Integrin Alpha Subunit 10. PLoS One 8:e75621, 2013. Pubmed reference: 24086591. DOI: 10.1371/journal.pone.0075621.
Published 3
Bingel, S.A., Sande, R.D. : Chondrodysplasia in the Norwegian Elkhound American Journal of Pathology 107:219-, 1982. Pubmed reference: 7081383.
Body/System/Process
Skeletal
OMIA Url
Inheritance
AR
Breed Specific Info
Researched Breeds
Karelian bear dog, Norwegian Elkhound
HSP Test-Specific Data
Agrotis S.r.l.
GTP
GTP Name
Agrotis S.r.l.
Breed
OMIA
Gene Name
ITGA10
Mutation
c.2083C>T
BioBank AS
GTP
GTP Name
BioBank AS
Breed
OMIA
Gene Name
ITGA10
Mutation
c.2083C>T
Generatio GmbH Center for Animal Genetics
GTP
GTP Name
Generatio GmbH Center for Animal Genetics
Breed
OMIA
Gene Name
ITGA10
Mutation
c.2083C>T
Certagen GmbH
GTP
GTP Name
Certagen GmbH
Breed
OMIA
Gene Name
ITGA10
Mutation
c.2083C>T
CMSCH
GTP
GTP Name
CMSCH
Breed
OMIA
Gene Name
ITGA10
Mutation
c.2083C>T
Genomia s.r.o
GTP
GTP Name
Genomia s.r.o
Breed
OMIA
Gene Name
ITGA10
Mutation
c.2083C>T
Mutation Comment
g.58703935G>A
Nature of test
mutation test
FCI Number
48
GTP Breed
Karelian bear dog
INNO
GTP
GTP Name
INNO
Breed
OMIA
Gene Name
ITGA10
Mutation
c.2083C>T
Laboratorios Labocor S.L.
GTP
GTP Name
Laboratorios Labocor S.L.
Breed
OMIA
Gene Name
ITGA10
Mutation
c.2083C>T
Laboklin Gmbh & Co. KG
GTP
GTP Name
Laboklin Gmbh & Co. KG
Breed
OMIA
Gene Name
ITGA10
Mutation
c.2083C>T
Nature of test
mutation test
FCI Number
48
PharmaDNA
GTP
GTP Name
PharmaDNA
Breed
OMIA
Gene Name
ITGA10
Mutation
c.2083C>T
Progènes-ADN
GTP
GTP Name
Progenes ADN
Breed
OMIA
Gene Name
ITGA10
Mutation
c.2083C>T
VetGen LLC
GTP
GTP Name
VetGen LLC
Breed
OMIA
Gene Name
ITGA10
Mutation
c.2083C>T
VHL Genetics
GTP
GTP Name
VHL Genetics
Breed
OMIA
Gene Name
ITGA10
Mutation
c.2083C>T
Wisdom Panel - Kinship
GTP
GTP Name
Wisdom Panel - Kinship
Breed
OMIA
Gene Name
ITGA10
Mutation
c.2083C>T
Nature of test
mutation test
GTP- or Breed-Specific Publications
Kyóstilä, K., Lappalainen, A.K., Lohi, H. : Canine Chondrodysplasia Caused by a Truncating Mutation in Collagen-Binding Integrin Alpha Subunit 10. PLoS One 8:e75621, 2013. Pubmed reference: 24086591.
Application in the Breed
Carriers may be bred to normal animals (N/chd x N/N) . Offspring should be tested before breeding . No breeding of two carriers (N/chd x N/chd) nor of affected animals (chd/chd), shorter than normal dogs, with reductions in length of long bones and torso, along with bowed front legs and growth plate disruptions
Inheritance
AR
FCI Number
48
GTP Breed
Karelian bear dog
Zoolyx
GTP
GTP Name
Zoolyx
Breed
OMIA
Gene Name
ITGA10
Mutation
c.2083C>T
AnimaLabs
GTP
GTP Name
AnimaLabs
Breed
OMIA