Chondrodysplasia, Disproportionate Short-limbed
Breed: Norwegian Elkhound/ grey
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
AnimaLabs
GTP
GTP Name
AnimaLabs
Breed
OMIA
Weatherbys Scientific
GTP
GTP Name
Weatherbys Scientific
Breed
OMIA
Gene Name
ITGA10
Mutation
c.2083C>T
Genomia s.r.o
GTP
GTP Name
Genomia s.r.o
Breed
OMIA
GTP Disease Name
disproportionate short-limbed
Gene Name
ITGA10
Mutation
c.2083C>T
Mutation Comment
g.58703935G>A