scholarly journals Osteoarthritis-like lesions in transgenic mice harboring a small deletion mutation in type II collagen gene

2000 ◽  
Vol 8 (4) ◽  
pp. 248-257 ◽  
Author(s):  
A.-M.K Säämänen ◽  
H.J Salminen ◽  
P.B Dean ◽  
B De Crombrugghe ◽  
E.I Vuorio ◽  
...  
Keyword(s):  
Transgenic Mice ◽  
Type Ii Collagen ◽  
Deletion Mutation ◽  
Collagen Gene ◽  
Type Ii ◽  
Small Deletion

Ultrastructural characterization of developmental and degenerative vitreo-retinal changes in the eyes of transgenic mice with a deletion mutation in type II collagen gene

2002 ◽  
Vol 24 (6) ◽  
pp. 439-450 ◽  
Author(s):  
Tapio Ihanamäki ◽  
Heli Salminen ◽  
Anna-Marja Säämänen ◽  
Minna Sandberg-Lall ◽  
Eero Vuorio ◽  
...  
Keyword(s):  
Transgenic Mice ◽  
Type Ii Collagen ◽  
Deletion Mutation ◽  
Collagen Gene ◽  
Type Ii ◽  
Ultrastructural Characterization

Ocular Abnormalities in Transgenic Mice Harboring Mutations in the Type Ii Collagen Gene

1996 ◽  
Vol 6 (4) ◽  
pp. 427-435 ◽  
Author(s):  
T. Ihanamäki ◽  
M. Metsäranta ◽  
M. Rintala ◽  
E. Vuorio ◽  
M. Sandberg-Lall
Keyword(s):  
Transgenic Mice ◽  
Type Ii Collagen ◽  
Collagen Gene ◽  
Type Ii ◽  
Ocular Abnormalities

Down-regulation of chondrocyte aggrecan and type-II Collagen gene expression correlates with increases in static compression magnitude and duration

1999 ◽  
Vol 17 (6) ◽  
pp. 836-842 ◽  
Author(s):  
Paula M. Ragan ◽  
Alison M. Badger ◽  
Michael Cook ◽  
Vicki I. Chin ◽  
Maxine Gowen ◽  
...  
Keyword(s):  
Gene Expression ◽  
Type Ii Collagen ◽  
Collagen Gene ◽  
Type Ii ◽  
Down Regulation ◽  
Static Compression ◽  
Collagen Gene Expression

A 182 bp fragment of the mouse pro alpha 1(II) collagen gene is sufficient to direct chondrocyte expression in transgenic mice

1995 ◽  
Vol 108 (12) ◽  
pp. 3677-3684 ◽  
Author(s):  
G. Zhou ◽  
S. Garofalo ◽  
K. Mukhopadhyay ◽  
V. Lefebvre ◽  
C.N. Smith ◽  
...  
Keyword(s):  
Transgenic Mice ◽  
Reporter Gene ◽  
Type Ii Collagen ◽  
Mouse Embryos ◽  
Collagen Gene ◽  
Specific Expression ◽  
Intact Mouse ◽  
Endogenous Gene ◽  
Intron 1 ◽  
Beta Galactosidase

Type II collagen is a major chondrocyte-specific component of the cartilage extracellular matrix and it represents a typical differentiation marker of mature chondrocytes. In order to delineate cis-acting elements of the mouse pro alpha 1(II) collagen gene that control chondrocyte-specific expression in intact mouse embryos, we generated transgenic mice harboring chimeric constructions in which varying lengths of the promoter and intron 1 sequences were linked to a beta-galactosidase reporter gene. A construction containing a 3,000 bp promoter and a 3,020 bp intron 1 fragment directed high levels of beta-galactosidase expression specifically to chondrocytes. Expression of the transgene coincided with the temporal expression of the endogenous gene at all stages of embryonic development. Successive deletions of intron 1 delineated a 182 bp fragment which targeted beta-galactosidase expression to chondrocytes with the same specificity as the larger intron 1 fragment. Transgenic mice harboring a 309 bp Col2a1 promoter lacking intron 1 tester sequences showed no beta-galactosidase expression in chondrocytes. Reduction of the 182 bp fragment to a 73 bp subfragment surrounding a decamer sequence previously reported to be involved in chondrocyte specificity, resulted in loss of transgene expression in chondrocytes. When the Col2a1 promoter was replaced with a minimal beta-globin promoter, the 182 bp intron 1 sequence was still able to target expression of the transgene to chondrocytes. We conclude that a 182 bp intron 1 DNA segment of the mouse Col2a1 gene contains the necessary information to confer high-level, temporally correct, chondrocyte expression on a reporter gene in intact mouse embryos and that Col2a1 promoter sequences are dispensable for chondrocyte expression.

Changes in serum cartilage marker levels indicate altered cartilage metabolism in families with the osteoarthritis-related type II collagen gene COL2A1 mutation

1999 ◽  
Vol 42 (1) ◽  
pp. 39-45 ◽  
Author(s):  
Jane F. Bleasel ◽  
A. Robin Poole ◽  
Dick Heineg�rd ◽  
Tore Saxne ◽  
Daniel Holderbaum ◽  
...  
Keyword(s):  
Type Ii Collagen ◽  
Collagen Gene ◽  
Type Ii ◽  
Cartilage Metabolism ◽  
Col2a1 Mutation

scholarly journals Tissue-specific expression of the human type II collagen gene in mice.

1987 ◽  
Vol 84 (9) ◽  
pp. 2803-2807 ◽  
Author(s):  
R. H. Lovell-Badge ◽  
A. Bygrave ◽  
A. Bradley ◽  
E. Robertson ◽  
R. Tilly ◽  
...  
Keyword(s):  
Type Ii Collagen ◽  
Collagen Gene ◽  
Type Ii ◽  
Specific Expression ◽  
Tissue Specific ◽  
Tissue Specific Expression ◽  
Human Type

scholarly journals Chondrodysplasia in transgenic mice harboring a 15-amino acid deletion in the triple helical domain of pro alpha 1(II) collagen chain.

1992 ◽  
Vol 118 (1) ◽  
pp. 203-212 ◽  
Author(s):  
M Metsäranta ◽  
S Garofalo ◽  
G Decker ◽  
M Rintala ◽  
B de Crombrugghe ◽  
...  
Keyword(s):  
Transgenic Mice ◽  
Endochondral Ossification ◽  
Electron Microscopic Examination ◽  
Type Ii Collagen ◽  
Dominant Negative ◽  
Collagen Molecule ◽  
Type Ii ◽  
Electron Microscopic ◽  
Dominant Negative Mutation ◽  
Collagen Chain

We have generated transgenic mice by microinjection of a 39-kb mouse pro alpha 1(II) collagen gene construct containing a deletion of exon 7 and intron 7. This mutation was expected to disturb the assembly and processing of the homotrimeric type II collagen molecule in cartilage. Expression of transgene mRNA at levels equivalent or higher than the endogenous mRNA in the offspring of two founder animals resulted in a severe chondrodysplastic phenotype with short limbs, hypoplastic thorax, abnormal craniofacial development, and other skeletal deformities. The affected pups died at birth due to respiratory distress. Light microscopy of epiphyseal growth plates of transgenic pups demonstrated a marked reduction in cartilaginous extracellular matrix and disruption of the normal organization of the growth plate. The zone of proliferating chondrocytes was greatly reduced whereas the zone of hypertrophic chondrocytes was markedly increased extending deep into the diaphysis suggestive of a defect in endochondral ossification. Electron microscopic examination revealed chondrocytes with extended RER, a very severe reduction in the amount of cartilage collagen fibrils, and abnormalities in their structure. We postulate that the deletion in the alpha 1(II) collagen acts as a dominant negative mutation disrupting the assembly and secretion of type II collagen molecules. The consequences of the mutation include interference with normal endochondral ossification. These mice constitute a valuable model to study the mechanisms underlying human chondrodysplasias and normal bone formation.

In Situ Hybridization Analysis of the Expression of the Type II Collagen Gene in the Developing Chicken Limb Bud

1988 ◽  
Vol 8 (4) ◽  
pp. 277-294 ◽  
Author(s):  
Hyun-Duck Nah ◽  
Barbara J. Rodgers ◽  
William M. Kulyk ◽  
Barbara E. Kream ◽  
Robert A. Kosher ◽  
...  
Keyword(s):  
In Situ Hybridization ◽  
Type Ii Collagen ◽  
Hybridization Analysis ◽  
Limb Bud ◽  
Collagen Gene ◽  
Type Ii
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