Characterisation of a C1qtnf5 Ser163Arg knock-in mouse model of late-onset retinal macular degeneration
A single founder mutation resulting in a Ser163Arg substitution in the C1QTNF5 gene product causes autosomal dominant late-onset retinal macular degeneration (L-ORMD) in humans, which has clinical and pathological features resembling age-related macular degeneration. We generated and characterised a...
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| Veröffentlicht in: | PloS one 2011-11, Vol.6 (11), p.e27433 |
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| creator | Shu, Xinhua Luhmann, Ulrich F O Aleman, Tomas S Barker, Susan E Lennon, Alan Tulloch, Brian Chen, Mei Xu, Heping Jacobson, Samuel G Ali, Robin Wright, Alan F |
| description | A single founder mutation resulting in a Ser163Arg substitution in the C1QTNF5 gene product causes autosomal dominant late-onset retinal macular degeneration (L-ORMD) in humans, which has clinical and pathological features resembling age-related macular degeneration. We generated and characterised a mouse "knock-in" model carrying the Ser163Arg mutation in the orthologous murine C1qtnf5 gene by site-directed mutagenesis and homologous recombination into mouse embryonic stem cells. Biochemical, immunological, electron microscopic, fundus autofluorescence, electroretinography and laser photocoagulation analyses were used to characterise the mouse model. Heterozygous and homozygous knock-in mice showed no significant abnormality in any of the above measures at time points up to 2 years. This result contrasts with another C1qtnf5 Ser163Arg knock-in mouse which showed most of the features of L-ORMD but differed in genetic background and targeting construct. |
| doi_str_mv | 10.1371/journal.pone.0027433 |
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We generated and characterised a mouse "knock-in" model carrying the Ser163Arg mutation in the orthologous murine C1qtnf5 gene by site-directed mutagenesis and homologous recombination into mouse embryonic stem cells. Biochemical, immunological, electron microscopic, fundus autofluorescence, electroretinography and laser photocoagulation analyses were used to characterise the mouse model. Heterozygous and homozygous knock-in mice showed no significant abnormality in any of the above measures at time points up to 2 years. This result contrasts with another C1qtnf5 Ser163Arg knock-in mouse which showed most of the features of L-ORMD but differed in genetic background and targeting construct.</description><identifier>ISSN: 1932-6203</identifier><identifier>EISSN: 1932-6203</identifier><identifier>DOI: 10.1371/journal.pone.0027433</identifier><identifier>PMID: 22110650</identifier><language>eng</language><publisher>United States: Public Library of Science</publisher><subject>Age ; Age of Onset ; Amino Acid Substitution ; Animals ; Base Sequence ; Choroidal Neovascularization - etiology ; Choroidal Neovascularization - genetics ; Choroidal Neovascularization - pathology ; Choroidal Neovascularization - physiopathology ; Collagen - genetics ; Disease Models, Animal ; Electroretinography ; Embryo cells ; Embryonic stem cells ; Embryonic Stem Cells - metabolism ; Female ; Fluorescence ; Gene Knock-In Techniques ; Genetic aspects ; HeLa Cells ; Homologous Recombination ; Homology ; Humans ; Immunology ; Kinases ; Lasers - adverse effects ; Light Coagulation - adverse effects ; Macular degeneration ; Macular Degeneration - genetics ; Macular Degeneration - pathology ; Macular Degeneration - physiopathology ; Male ; Medicine ; Mice ; Mutation ; Phenotype ; Physiological aspects ; Retina ; Retina - metabolism ; Retina - pathology ; Retina - physiopathology ; Site-directed mutagenesis ; Stem cell transplantation ; Stem cells ; Xenopus laevis</subject><ispartof>PloS one, 2011-11, Vol.6 (11), p.e27433</ispartof><rights>COPYRIGHT 2011 Public Library of Science</rights><rights>2011 Shu et al. This is an open-access article distributed under the terms of the Creative Commons Attribution License: https://creativecommons.org/licenses/by/4.0/ (the “License”), which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited. Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License.</rights><rights>Shu et al. 2011</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c691t-e5358a68e1dbbe9098a4166056818cc05e758e6a04ccb9870779b2d3a9efbe0d3</citedby></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC3217991/pdf/$$EPDF$$P50$$Gpubmedcentral$$Hfree_for_read</linktopdf><linktohtml>$$Uhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC3217991/$$EHTML$$P50$$Gpubmedcentral$$Hfree_for_read</linktohtml><link.rule.ids>230,314,727,780,784,864,885,2102,2928,23866,27924,27925,53791,53793,79600,79601</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/22110650$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><contributor>Claudepierre, Thomas</contributor><creatorcontrib>Shu, Xinhua</creatorcontrib><creatorcontrib>Luhmann, Ulrich F O</creatorcontrib><creatorcontrib>Aleman, Tomas S</creatorcontrib><creatorcontrib>Barker, Susan E</creatorcontrib><creatorcontrib>Lennon, Alan</creatorcontrib><creatorcontrib>Tulloch, Brian</creatorcontrib><creatorcontrib>Chen, Mei</creatorcontrib><creatorcontrib>Xu, Heping</creatorcontrib><creatorcontrib>Jacobson, Samuel G</creatorcontrib><creatorcontrib>Ali, Robin</creatorcontrib><creatorcontrib>Wright, Alan F</creatorcontrib><title>Characterisation of a C1qtnf5 Ser163Arg knock-in mouse model of late-onset retinal macular degeneration</title><title>PloS one</title><addtitle>PLoS One</addtitle><description>A single founder mutation resulting in a Ser163Arg substitution in the C1QTNF5 gene product causes autosomal dominant late-onset retinal macular degeneration (L-ORMD) in humans, which has clinical and pathological features resembling age-related macular degeneration. We generated and characterised a mouse "knock-in" model carrying the Ser163Arg mutation in the orthologous murine C1qtnf5 gene by site-directed mutagenesis and homologous recombination into mouse embryonic stem cells. Biochemical, immunological, electron microscopic, fundus autofluorescence, electroretinography and laser photocoagulation analyses were used to characterise the mouse model. Heterozygous and homozygous knock-in mice showed no significant abnormality in any of the above measures at time points up to 2 years. This result contrasts with another C1qtnf5 Ser163Arg knock-in mouse which showed most of the features of L-ORMD but differed in genetic background and targeting construct.</description><subject>Age</subject><subject>Age of Onset</subject><subject>Amino Acid Substitution</subject><subject>Animals</subject><subject>Base Sequence</subject><subject>Choroidal Neovascularization - etiology</subject><subject>Choroidal Neovascularization - genetics</subject><subject>Choroidal Neovascularization - pathology</subject><subject>Choroidal Neovascularization - physiopathology</subject><subject>Collagen - genetics</subject><subject>Disease Models, Animal</subject><subject>Electroretinography</subject><subject>Embryo cells</subject><subject>Embryonic stem cells</subject><subject>Embryonic Stem Cells - metabolism</subject><subject>Female</subject><subject>Fluorescence</subject><subject>Gene Knock-In Techniques</subject><subject>Genetic aspects</subject><subject>HeLa Cells</subject><subject>Homologous Recombination</subject><subject>Homology</subject><subject>Humans</subject><subject>Immunology</subject><subject>Kinases</subject><subject>Lasers - adverse effects</subject><subject>Light Coagulation - adverse effects</subject><subject>Macular degeneration</subject><subject>Macular Degeneration - genetics</subject><subject>Macular Degeneration - pathology</subject><subject>Macular Degeneration - physiopathology</subject><subject>Male</subject><subject>Medicine</subject><subject>Mice</subject><subject>Mutation</subject><subject>Phenotype</subject><subject>Physiological aspects</subject><subject>Retina</subject><subject>Retina - metabolism</subject><subject>Retina - pathology</subject><subject>Retina - physiopathology</subject><subject>Site-directed mutagenesis</subject><subject>Stem cell transplantation</subject><subject>Stem cells</subject><subject>Xenopus laevis</subject><issn>1932-6203</issn><issn>1932-6203</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2011</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><sourceid>ABUWG</sourceid><sourceid>AFKRA</sourceid><sourceid>AZQEC</sourceid><sourceid>BENPR</sourceid><sourceid>CCPQU</sourceid><sourceid>DWQXO</sourceid><sourceid>GNUQQ</sourceid><sourceid>DOA</sourceid><recordid>eNqNkl2L1DAUhoso7rr6D0QLguDFjPlo0-ZGGAY_BhYWXPU2nKanncy2zWySiv57MzvdZQoKEkhC8rzvORzeJHlJyZLygr7f2dEN0C33dsAlIazIOH-UnFPJ2UIwwh-f3M-SZ97vCMl5KcTT5IwxSonIyXnSrrfgQAd0xkMwdkhtk0K6prdhaPL0Gh0VfOXa9Gaw-mZhhrS3o8e419gd2A4CLuzgMaQOg4kdpT3osQOX1tjigO7O9nnypIHO44vpvEi-f_r4bf1lcXn1ebNeXS60kDQsMOd5CaJEWlcVSiJLyKgQJBclLbUmORZ5iQJIpnUly4IUhaxYzUFiUyGp-UXy-ui776xX04y8opwymktGSSQ2R6K2sFN7Z3pwv5UFo-4erGsVuGB0hwo0K2WDIGK5TMRSrCnqqs4rwSUiyaLXh6naWPVYaxyCg25mOv8ZzFa19qfijBZS0mjwZjJw9nZEH_7R8kS1ELsyQ2Ojme6N12qVFaIUTGYHr-VfqLhq7I2OKWlMfJ8J3s0EkQn4K7Qweq8211__n736MWffnrBbhC5sve3GQw78HMyOoHbWe4fNw-QoUYeQ309DHUKuppBH2avTqT-I7lPN_wA95vbg</recordid><startdate>20111116</startdate><enddate>20111116</enddate><creator>Shu, Xinhua</creator><creator>Luhmann, Ulrich F O</creator><creator>Aleman, Tomas S</creator><creator>Barker, Susan E</creator><creator>Lennon, Alan</creator><creator>Tulloch, Brian</creator><creator>Chen, Mei</creator><creator>Xu, Heping</creator><creator>Jacobson, Samuel G</creator><creator>Ali, Robin</creator><creator>Wright, Alan F</creator><general>Public Library of Science</general><general>Public Library of Science (PLoS)</general><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>IOV</scope><scope>ISR</scope><scope>3V.</scope><scope>7QG</scope><scope>7QL</scope><scope>7QO</scope><scope>7RV</scope><scope>7SN</scope><scope>7SS</scope><scope>7T5</scope><scope>7TG</scope><scope>7TM</scope><scope>7U9</scope><scope>7X2</scope><scope>7X7</scope><scope>7XB</scope><scope>88E</scope><scope>8AO</scope><scope>8C1</scope><scope>8FD</scope><scope>8FE</scope><scope>8FG</scope><scope>8FH</scope><scope>8FI</scope><scope>8FJ</scope><scope>8FK</scope><scope>ABJCF</scope><scope>ABUWG</scope><scope>AFKRA</scope><scope>ARAPS</scope><scope>ATCPS</scope><scope>AZQEC</scope><scope>BBNVY</scope><scope>BENPR</scope><scope>BGLVJ</scope><scope>BHPHI</scope><scope>C1K</scope><scope>CCPQU</scope><scope>D1I</scope><scope>DWQXO</scope><scope>FR3</scope><scope>FYUFA</scope><scope>GHDGH</scope><scope>GNUQQ</scope><scope>H94</scope><scope>HCIFZ</scope><scope>K9.</scope><scope>KB.</scope><scope>KB0</scope><scope>KL.</scope><scope>L6V</scope><scope>LK8</scope><scope>M0K</scope><scope>M0S</scope><scope>M1P</scope><scope>M7N</scope><scope>M7P</scope><scope>M7S</scope><scope>NAPCQ</scope><scope>P5Z</scope><scope>P62</scope><scope>P64</scope><scope>PATMY</scope><scope>PDBOC</scope><scope>PIMPY</scope><scope>PQEST</scope><scope>PQQKQ</scope><scope>PQUKI</scope><scope>PRINS</scope><scope>PTHSS</scope><scope>PYCSY</scope><scope>RC3</scope><scope>5PM</scope><scope>DOA</scope></search><sort><creationdate>20111116</creationdate><title>Characterisation of a C1qtnf5 Ser163Arg knock-in mouse model of late-onset retinal macular degeneration</title><author>Shu, Xinhua ; Luhmann, Ulrich F O ; Aleman, Tomas S ; Barker, Susan E ; Lennon, Alan ; Tulloch, Brian ; Chen, Mei ; Xu, Heping ; Jacobson, Samuel G ; Ali, Robin ; Wright, Alan F</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c691t-e5358a68e1dbbe9098a4166056818cc05e758e6a04ccb9870779b2d3a9efbe0d3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2011</creationdate><topic>Age</topic><topic>Age of Onset</topic><topic>Amino Acid Substitution</topic><topic>Animals</topic><topic>Base Sequence</topic><topic>Choroidal Neovascularization - etiology</topic><topic>Choroidal Neovascularization - genetics</topic><topic>Choroidal Neovascularization - pathology</topic><topic>Choroidal Neovascularization - physiopathology</topic><topic>Collagen - genetics</topic><topic>Disease Models, Animal</topic><topic>Electroretinography</topic><topic>Embryo cells</topic><topic>Embryonic stem cells</topic><topic>Embryonic Stem Cells - metabolism</topic><topic>Female</topic><topic>Fluorescence</topic><topic>Gene Knock-In Techniques</topic><topic>Genetic aspects</topic><topic>HeLa Cells</topic><topic>Homologous Recombination</topic><topic>Homology</topic><topic>Humans</topic><topic>Immunology</topic><topic>Kinases</topic><topic>Lasers - adverse effects</topic><topic>Light Coagulation - adverse effects</topic><topic>Macular degeneration</topic><topic>Macular Degeneration - genetics</topic><topic>Macular Degeneration - pathology</topic><topic>Macular Degeneration - physiopathology</topic><topic>Male</topic><topic>Medicine</topic><topic>Mice</topic><topic>Mutation</topic><topic>Phenotype</topic><topic>Physiological aspects</topic><topic>Retina</topic><topic>Retina - 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We generated and characterised a mouse "knock-in" model carrying the Ser163Arg mutation in the orthologous murine C1qtnf5 gene by site-directed mutagenesis and homologous recombination into mouse embryonic stem cells. Biochemical, immunological, electron microscopic, fundus autofluorescence, electroretinography and laser photocoagulation analyses were used to characterise the mouse model. Heterozygous and homozygous knock-in mice showed no significant abnormality in any of the above measures at time points up to 2 years. This result contrasts with another C1qtnf5 Ser163Arg knock-in mouse which showed most of the features of L-ORMD but differed in genetic background and targeting construct.</abstract><cop>United States</cop><pub>Public Library of Science</pub><pmid>22110650</pmid><doi>10.1371/journal.pone.0027433</doi><tpages>e27433</tpages><oa>free_for_read</oa></addata></record> |
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| subjects | Age Age of Onset Amino Acid Substitution Animals Base Sequence Choroidal Neovascularization - etiology Choroidal Neovascularization - genetics Choroidal Neovascularization - pathology Choroidal Neovascularization - physiopathology Collagen - genetics Disease Models, Animal Electroretinography Embryo cells Embryonic stem cells Embryonic Stem Cells - metabolism Female Fluorescence Gene Knock-In Techniques Genetic aspects HeLa Cells Homologous Recombination Homology Humans Immunology Kinases Lasers - adverse effects Light Coagulation - adverse effects Macular degeneration Macular Degeneration - genetics Macular Degeneration - pathology Macular Degeneration - physiopathology Male Medicine Mice Mutation Phenotype Physiological aspects Retina Retina - metabolism Retina - pathology Retina - physiopathology Site-directed mutagenesis Stem cell transplantation Stem cells Xenopus laevis |
| title | Characterisation of a C1qtnf5 Ser163Arg knock-in mouse model of late-onset retinal macular degeneration |
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