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A mouse model for Stickler's syndrome; ocular phenotype of mice carrying a targeted heterozygous inactivation of type II (pro)collagen gene (Col2a1).
Department of Ophthalmology, Kuopio University Hospital, Kuopio, Finland.
Department of Ophthalmology, Helsinki University Hospital, Helsinki, Finland.
Department of Anatomy, University of Kuopio, Kuopio, Finland.
Department of Anatomy, University of Kuopio, Kuopio, Finland.
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2006 (English)In: Experimental Eye Research, ISSN 0014-4835, E-ISSN 1096-0007, Vol. 83, no 2, 297-303 p., 16546167Article in journal (Refereed) Published
Abstract [en]

The influences of targeted heterozygous inactivation of type II (pro)collagen gene (Col2a1) on eye structures in the 15-month-old C57BL/6JOlaHsd mouse was studied. The eyes were collected from C57BL mice heterozygous for a targeted inactivation of one allele of the Col2a1 gene (Col2a1(+/-) mice). The eyes of C57BL mice with normal gene alleles were used as controls (Col2a1(+/+) mice). Ocular histology was analyzed from tissue sections, stained with hematoxylin and eosin, toluidine blue and alcian blue. Type II collagen was localized by immunohistochemistry. Hyaluronan (HA) was stained utilizing the biotinylated complex of the hyaluronan-binding region of aggrecan and link protein (bHABC). The anterior segment of the eye was well-formed in both genotypes, but typical folding of ciliary processes was decreased, while increased stromal extracellular matrix vacuolization was seen in the Col2a1(+/-) mice. In the lens of these mice, subcapsular extracellular matrix changes were observed. Differences in retinal structures or the number of the eyes with retinal detachment were not detected between the genotypes. In Col2a1(+/-) mice, staining for type II collagen was weaker in cornea, ciliary body, iris, lens, vitreous, retina, choroid and sclera than in the control mice. HA staining was detected in the extraocular tissues, ciliary body, iris and the choroid of both genotypes. HA staining was observed only in the vitreous body of the control animals. Heterozygous inactivation of Col2a1 gene causes structural defects in the murine eye. The observed structural changes in the ciliary body, lens and vitreous of the Col2a1(+/-) mice may represent ocular features found in the human Stickler syndrome, where the abnormalities result from COL2A1 gene mutations which lead to functional haploinsufficiency.

Place, publisher, year, edition, pages
Elsevier, 2006. Vol. 83, no 2, 297-303 p., 16546167
Keyword [en]
Ocular phenotype, Stickler's syndrome, type II collagen, transgenic mice, genetic inactivation
National Category
Cell and Molecular Biology Ophthalmology
Research subject
cellforskning; Ophtalmology
URN: urn:nbn:se:umu:diva-106651DOI: 10.1016/j.exer.2005.11.027PubMedID: 16546167OAI: diva2:843211
Available from: 2015-07-27 Created: 2015-07-27 Last updated: 2015-07-27

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Lammi, Mikko
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