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Volumn 83, Issue 2, 2006, Pages 297-303

A mouse model for Stickler's syndrome: Ocular phenotype of mice carrying a targeted heterozygous inactivation of type II (pro)collagen gene (Col2a1)

Author keywords

collagen; hyaluronan; Stickler syndrome

Indexed keywords

COLLAGEN TYPE 2; PROCOLLAGEN;

EID: 33744932444     PISSN: 00144835     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.exer.2005.11.027     Document Type: Article
Times cited : (24)

References (49)
  • 2
    • 0025009766 scopus 로고
    • Single base mutation in the type II procollagen gene (COL2A1) as a cause of primary osteoarthritis associated with a mild chondrodysplasia
    • Ala-Kokko L., Baldwin C.T., Moskowitz R.W., and Prockop D.J. Single base mutation in the type II procollagen gene (COL2A1) as a cause of primary osteoarthritis associated with a mild chondrodysplasia. Proc. Natl. Acad. Sci. U.S.A. 87 (1990) 6565-6568
    • (1990) Proc. Natl. Acad. Sci. U.S.A. , vol.87 , pp. 6565-6568
    • Ala-Kokko, L.1    Baldwin, C.T.2    Moskowitz, R.W.3    Prockop, D.J.4
  • 4
    • 0028215168 scopus 로고
    • Extraction and characterization of tissue forms of collagen types II and IX from bovine vitreous
    • Bishop P.N., Crossman M.V., McLeod D., and Ayad S. Extraction and characterization of tissue forms of collagen types II and IX from bovine vitreous. Biochem. J. 299 (1994) 497-505
    • (1994) Biochem. J. , vol.299 , pp. 497-505
    • Bishop, P.N.1    Crossman, M.V.2    McLeod, D.3    Ayad, S.4
  • 6
    • 0029754638 scopus 로고    scopus 로고
    • Rapid screening of transgenic type II and type XI collagen knockout mice with three-primer PCR
    • Busler D.E., and Li S.-W. Rapid screening of transgenic type II and type XI collagen knockout mice with three-primer PCR. Biotechniques 21 (1996) 1002-1004
    • (1996) Biotechniques , vol.21 , pp. 1002-1004
    • Busler, D.E.1    Li, S.-W.2
  • 7
    • 0025732094 scopus 로고
    • Expression of the mouse alpha 1(II) collagen gene is not restricted to cartilage during development
    • Cheah K.S., Lau E.T., Au P.K., and Tam P.P. Expression of the mouse alpha 1(II) collagen gene is not restricted to cartilage during development. Development 111 (1991) 945-953
    • (1991) Development , vol.111 , pp. 945-953
    • Cheah, K.S.1    Lau, E.T.2    Au, P.K.3    Tam, P.P.4
  • 9
    • 0031603803 scopus 로고    scopus 로고
    • Differential splicing of type II procollagen mRNA in canine retina
    • Du F., Acland G.M., and Ray J. Differential splicing of type II procollagen mRNA in canine retina. Anim. Biotech. 9 (1998) 15-20
    • (1998) Anim. Biotech. , vol.9 , pp. 15-20
    • Du, F.1    Acland, G.M.2    Ray, J.3
  • 10
    • 0028816938 scopus 로고
    • Analysis of transcriptional isoforms of collagen types IX, II, and I in the developing avian cornea by competitive polymerase chain reaction
    • Fitch J.M., Gordon M.K., Gibney E.P., and Linsenmayer T.F. Analysis of transcriptional isoforms of collagen types IX, II, and I in the developing avian cornea by competitive polymerase chain reaction. Dev. Dyn. 202 (1995) 42-53
    • (1995) Dev. Dyn. , vol.202 , pp. 42-53
    • Fitch, J.M.1    Gordon, M.K.2    Gibney, E.P.3    Linsenmayer, T.F.4
  • 12
    • 0034723721 scopus 로고    scopus 로고
    • Molecular diagnosis of Stickler syndrome: a COL2A1 stop codon mutation screening strategy that is not compromised by mutant mRNA instability
    • Freddi S., Savarirayan R., and Bateman J.F. Molecular diagnosis of Stickler syndrome: a COL2A1 stop codon mutation screening strategy that is not compromised by mutant mRNA instability. Am. J. Med. Genet. 90 (2000) 398-406
    • (2000) Am. J. Med. Genet. , vol.90 , pp. 398-406
    • Freddi, S.1    Savarirayan, R.2    Bateman, J.F.3
  • 13
    • 0030698428 scopus 로고    scopus 로고
    • Hyaluronan localization in tissues of the mouse posterior eye wall: absence in the interphotoreceptor matrix
    • Hollyfield J.G., Rayborn M.E., and Tammi R. Hyaluronan localization in tissues of the mouse posterior eye wall: absence in the interphotoreceptor matrix. Exp. Eye Res. 65 (1997) 603-608
    • (1997) Exp. Eye Res. , vol.65 , pp. 603-608
    • Hollyfield, J.G.1    Rayborn, M.E.2    Tammi, R.3
  • 14
    • 0031937262 scopus 로고    scopus 로고
    • Hyaluronan in the interphotoreceptor matrix of the eye: species differences in content, distribution, ligand binding and degradation
    • Hollyfield J.G., Rayborn M.E., Tammi M., and Tammi R. Hyaluronan in the interphotoreceptor matrix of the eye: species differences in content, distribution, ligand binding and degradation. Exp. Eye Res. 66 (1998) 241-248
    • (1998) Exp. Eye Res. , vol.66 , pp. 241-248
    • Hollyfield, J.G.1    Rayborn, M.E.2    Tammi, M.3    Tammi, R.4
  • 17
    • 0142056986 scopus 로고    scopus 로고
    • Expression of Sox9 and type IIA procollagen during ocular development and aging in transgenic Del1 mice with a mutation in the type II collagen gene
    • Ihanamäki T., Säämänen A.-M., Suominen J., Pelliniemi L.J., Harley V., Vuorio E., and Salminen H. Expression of Sox9 and type IIA procollagen during ocular development and aging in transgenic Del1 mice with a mutation in the type II collagen gene. Eur. J. Ophthalmol. 12 (2002) 450-458
    • (2002) Eur. J. Ophthalmol. , vol.12 , pp. 450-458
    • Ihanamäki, T.1    Säämänen, A.-M.2    Suominen, J.3    Pelliniemi, L.J.4    Harley, V.5    Vuorio, E.6    Salminen, H.7
  • 18
    • 0036971212 scopus 로고    scopus 로고
    • Ultrastructural characterization of developmental and degenerative vitreo-retinal changes in the eyes of transgenic mice with a deletion mutation in type II collagen gene
    • Ihanamäki T., Salminen H., Säämänen A.M., Sandberg-Lall M., Vuorio E., and Pelliniemi L.J. Ultrastructural characterization of developmental and degenerative vitreo-retinal changes in the eyes of transgenic mice with a deletion mutation in type II collagen gene. Curr. Eye Res. 24 (2002) 439-450
    • (2002) Curr. Eye Res. , vol.24 , pp. 439-450
    • Ihanamäki, T.1    Salminen, H.2    Säämänen, A.M.3    Sandberg-Lall, M.4    Vuorio, E.5    Pelliniemi, L.J.6
  • 19
    • 3042574955 scopus 로고    scopus 로고
    • Collagens and collagen-related matrix components in the human and mouse eye
    • Ihanamäki T., Pelliniemi L.J., and Vuorio E. Collagens and collagen-related matrix components in the human and mouse eye. Prog. Retin. Eye Res. 23 (2004) 403-434
    • (2004) Prog. Retin. Eye Res. , vol.23 , pp. 403-434
    • Ihanamäki, T.1    Pelliniemi, L.J.2    Vuorio, E.3
  • 20
    • 0027504082 scopus 로고
    • Hyaluronan-binding proteins in development, tissue homeostasis, and disease
    • Knudson C., and Knudson W. Hyaluronan-binding proteins in development, tissue homeostasis, and disease. FASEB J. 7 (1993) 1233-1241
    • (1993) FASEB J. , vol.7 , pp. 1233-1241
    • Knudson, C.1    Knudson, W.2
  • 21
    • 0001286055 scopus 로고    scopus 로고
    • CD44 structure and function
    • Lesley J., and Hyman R. CD44 structure and function. Front. Biosci. 3 (1998) 616-630
    • (1998) Front. Biosci. , vol.3 , pp. 616-630
    • Lesley, J.1    Hyman, R.2
  • 23
    • 0038239154 scopus 로고    scopus 로고
    • Age-related liquefaction of the human vitreous body: LM and TEM evaluation of the role of proteoglycans and collagen
    • Los L.I., van der Worp R.J., van Luyn M.J.A., and Hooymans J.M.M. Age-related liquefaction of the human vitreous body: LM and TEM evaluation of the role of proteoglycans and collagen. Invest. Ophthalmol. Vis. Sci. 44 (2003) 2828-2833
    • (2003) Invest. Ophthalmol. Vis. Sci. , vol.44 , pp. 2828-2833
    • Los, L.I.1    van der Worp, R.J.2    van Luyn, M.J.A.3    Hooymans, J.M.M.4
  • 24
    • 0032744969 scopus 로고    scopus 로고
    • Stickler syndrome: further mutations in Col11a1 and evidence for additional locus heterogeneity
    • Martin S., Richards A.J., and Yates J.R. Stickler syndrome: further mutations in Col11a1 and evidence for additional locus heterogeneity. Eur. J. Hum. Genet. 7 (1999) 807-814
    • (1999) Eur. J. Hum. Genet. , vol.7 , pp. 807-814
    • Martin, S.1    Richards, A.J.2    Yates, J.R.3
  • 25
    • 0018305858 scopus 로고
    • Vitreoretinal degeneration as a sign of generalized connective tissue diseases
    • Maumenee I.H. Vitreoretinal degeneration as a sign of generalized connective tissue diseases. Am. J. Ophthalmol. 88 (1979) 432-449
    • (1979) Am. J. Ophthalmol. , vol.88 , pp. 432-449
    • Maumenee, I.H.1
  • 26
    • 0035068434 scopus 로고    scopus 로고
    • Collagens and collagen-related diseases
    • Myllyharju J., and Kivirikko K.I. Collagens and collagen-related diseases. Ann. Med. 33 (2001) 7-21
    • (2001) Ann. Med. , vol.33 , pp. 7-21
    • Myllyharju, J.1    Kivirikko, K.I.2
  • 27
    • 0017190319 scopus 로고
    • Vitreous body collagen. Evidence for a dual origin from the neural retina and hyalocytes
    • Newsome D.A., Linsenmayer T.F., and Trelstad R.L. Vitreous body collagen. Evidence for a dual origin from the neural retina and hyalocytes. J. Cell Biol. 71 (1976) 59-67
    • (1976) J. Cell Biol. , vol.71 , pp. 59-67
    • Newsome, D.A.1    Linsenmayer, T.F.2    Trelstad, R.L.3
  • 28
    • 0029006974 scopus 로고
    • Collagens: molecular biology, diseases, and potentials for therapy
    • Prockop D.J., and Kivirikko K.I. Collagens: molecular biology, diseases, and potentials for therapy. Annu. Rev. Biochem. 64 (1995) 403-434
    • (1995) Annu. Rev. Biochem. , vol.64 , pp. 403-434
    • Prockop, D.J.1    Kivirikko, K.I.2
  • 29
    • 0029833063 scopus 로고    scopus 로고
    • A family with Stickler syndrome type 2 has a mutation in the COL11A1 gene resulting in the substitution of glycine 97 by valine in alpha 1 (XI) collagen
    • Richards A.J., Yates J.R., Williams R., Payne S.J., Pope F.M., Scott J.D., and Snead M.P. A family with Stickler syndrome type 2 has a mutation in the COL11A1 gene resulting in the substitution of glycine 97 by valine in alpha 1 (XI) collagen. Hum. Mol. Genet. 5 (1996) 1339-1343
    • (1996) Hum. Mol. Genet. , vol.5 , pp. 1339-1343
    • Richards, A.J.1    Yates, J.R.2    Williams, R.3    Payne, S.J.4    Pope, F.M.5    Scott, J.D.6    Snead, M.P.7
  • 30
    • 0027181410 scopus 로고
    • A fourth example suggests that premature termination codons in the COL2A1 gene are a common cause of the Stickler syndrome: analysis of the COL2A1 gene by denaturing gradient gel electrophoresis
    • Ritvaniemi P., Hyland J., Ignatius J., Kivirikko K.I., Prockop D.J., and Ala-Kokko L. A fourth example suggests that premature termination codons in the COL2A1 gene are a common cause of the Stickler syndrome: analysis of the COL2A1 gene by denaturing gradient gel electrophoresis. Genomics 17 (1993) 218-221
    • (1993) Genomics , vol.17 , pp. 218-221
    • Ritvaniemi, P.1    Hyland, J.2    Ignatius, J.3    Kivirikko, K.I.4    Prockop, D.J.5    Ala-Kokko, L.6
  • 32
    • 1842376226 scopus 로고    scopus 로고
    • Localization of type II collagen mRNA isoforms in the developing eyes of normal and transgenic mice with a mutation in type II collagen gene
    • Savontaus M., Ihanamäki T., Metsäranta M., Vuorio E., and Sandberg-Lall M. Localization of type II collagen mRNA isoforms in the developing eyes of normal and transgenic mice with a mutation in type II collagen gene. Invest. Ophthalmol. Vis. Sci. 38 (1997) 930-942
    • (1997) Invest. Ophthalmol. Vis. Sci. , vol.38 , pp. 930-942
    • Savontaus, M.1    Ihanamäki, T.2    Metsäranta, M.3    Vuorio, E.4    Sandberg-Lall, M.5
  • 34
    • 0031890446 scopus 로고    scopus 로고
    • Stickler syndrome without eye involvement is caused by mutations in COL11A2, the gene encoding the alpha2(XI) chain of type XI collagen
    • Sirko-Osadsa D.A., Murray M.A., Scott J.A., Lavery M.A., Warman M.L., and Robin N.H. Stickler syndrome without eye involvement is caused by mutations in COL11A2, the gene encoding the alpha2(XI) chain of type XI collagen. J. Pediatr. 132 (1998) 368-371
    • (1998) J. Pediatr. , vol.132 , pp. 368-371
    • Sirko-Osadsa, D.A.1    Murray, M.A.2    Scott, J.A.3    Lavery, M.A.4    Warman, M.L.5    Robin, N.H.6
  • 35
    • 0032922721 scopus 로고    scopus 로고
    • Clinical and molecular genetics of Stickler syndrome
    • Snead M.P., and Yates J.R.W. Clinical and molecular genetics of Stickler syndrome. J. Med. Genet. 36 (1999) 353-359
    • (1999) J. Med. Genet. , vol.36 , pp. 353-359
    • Snead, M.P.1    Yates, J.R.W.2
  • 36
    • 0023212948 scopus 로고
    • Stickler's syndrome: a study of 12 families
    • Spallone A. Stickler's syndrome: a study of 12 families. Br. J. Ophthalmol. 71 (1987) 504-509
    • (1987) Br. J. Ophthalmol. , vol.71 , pp. 504-509
    • Spallone, A.1
  • 37
    • 0035746629 scopus 로고    scopus 로고
    • Clinical features of hereditary progressive arthro-ophthalmopathy (Stickler syndrome): a survey
    • Stickler G.B., Hughes W., and Houchin P. Clinical features of hereditary progressive arthro-ophthalmopathy (Stickler syndrome): a survey. Genet. Med. 3 (2001) 192-196
    • (2001) Genet. Med. , vol.3 , pp. 192-196
    • Stickler, G.B.1    Hughes, W.2    Houchin, P.3
  • 38
    • 0015397066 scopus 로고
    • Vitreous structure. 3. Composition of bovine vitreous collagen
    • Swann D.A., Constable I.J., and Harper E. Vitreous structure. 3. Composition of bovine vitreous collagen. Invest. Ophthalmol. 11 (1972) 735-738
    • (1972) Invest. Ophthalmol. , vol.11 , pp. 735-738
    • Swann, D.A.1    Constable, I.J.2    Harper, E.3
  • 39
    • 0026767464 scopus 로고
    • Localization of type II collagen, long form alpha 1(IX) collagen, and short form alpha 1(IX) collagen transcripts in the developing chick notochord and axial skeleton
    • Swiderski R.E., and Solursh M. Localization of type II collagen, long form alpha 1(IX) collagen, and short form alpha 1(IX) collagen transcripts in the developing chick notochord and axial skeleton. Dev. Dyn. 194 (1992) 118-127
    • (1992) Dev. Dyn. , vol.194 , pp. 118-127
    • Swiderski, R.E.1    Solursh, M.2
  • 40
    • 0345608789 scopus 로고
    • Localization of epidermal hyaluronic acid using the hyaluronate binding region of cartilage proteoglycan as a specific probe
    • Tammi R., Ripellino J., Margolis R., and Tammi M. Localization of epidermal hyaluronic acid using the hyaluronate binding region of cartilage proteoglycan as a specific probe. J. Invest. Dermatol. 92 (1988) 326-332
    • (1988) J. Invest. Dermatol. , vol.92 , pp. 326-332
    • Tammi, R.1    Ripellino, J.2    Margolis, R.3    Tammi, M.4
  • 42
    • 0025038449 scopus 로고
    • Hyaluronan and its binding proteins, the hyaladherins
    • Toole B.P. Hyaluronan and its binding proteins, the hyaladherins. Curr. Opin. Cell Biol. 2 (1990) 839-844
    • (1990) Curr. Opin. Cell Biol. , vol.2 , pp. 839-844
    • Toole, B.P.1
  • 43
    • 0036727959 scopus 로고    scopus 로고
    • Occurrence of deletion of a COL2A1 allele as the mutation in Stickler syndrome shows that a collagen type II dosage effect underlies this syndrome
    • van der Hout A.H., Verlind E., Beemer F.A., Buys C.H., Hofstra R.M., and Scheffer H. Occurrence of deletion of a COL2A1 allele as the mutation in Stickler syndrome shows that a collagen type II dosage effect underlies this syndrome. Hum. Mutat. 20 (2002) 236
    • (2002) Hum. Mutat. , vol.20 , pp. 236
    • van der Hout, A.H.1    Verlind, E.2    Beemer, F.A.3    Buys, C.H.4    Hofstra, R.M.5    Scheffer, H.6
  • 44
    • 0030958929 scopus 로고    scopus 로고
    • Oto-spondylo-megaepiphyseal dysplasia (OSMED): clinical description of three patients homozygous for a missense mutation in the COL11A2 gene
    • van Steensel M.A., Buma P., de Waal Malefijt M.C., van den Hoogen F.H., and Brunner H.G. Oto-spondylo-megaepiphyseal dysplasia (OSMED): clinical description of three patients homozygous for a missense mutation in the COL11A2 gene. Am. J. Med. Genet. 70 (1997) 315-323
    • (1997) Am. J. Med. Genet. , vol.70 , pp. 315-323
    • van Steensel, M.A.1    Buma, P.2    de Waal Malefijt, M.C.3    van den Hoogen, F.H.4    Brunner, H.G.5
  • 48
    • 0029665141 scopus 로고    scopus 로고
    • A-2>G transition at the 3 acceptor splice site of IVS17 characterizes the Col2a1 gene mutation in the original Stickler syndrome kindred
    • Williams C.J., Ganguly A., Considine E., McCarron S., Prockop D.J., Walsh-Vockley C., and Michels V.V. A-2>G transition at the 3 acceptor splice site of IVS17 characterizes the Col2a1 gene mutation in the original Stickler syndrome kindred. Am. J. Med. Genet. 63 (1996) 461-467
    • (1996) Am. J. Med. Genet. , vol.63 , pp. 461-467
    • Williams, C.J.1    Ganguly, A.2    Considine, E.3    McCarron, S.4    Prockop, D.J.5    Walsh-Vockley, C.6    Michels, V.V.7


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