| Endogenous retroviral insertion in Cryge in the mouse No3 cataract mutant. | |
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MedLine Citation:
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PMID: 17223009 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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No3 (nuclear opacity 3) is a novel congenital nuclear cataract in mice. Microsatellite mapping placed the No3 locus on chromosome 1 between D1Mit480 (32cM) and D1Mit7 (41cM), a region containing seven crystallin genes; Cryba2 and the Cryga-Crygf cluster. Although polymorphic variants were observed, no candidate mutations were found for six of the genes. However, DNA walking identified a murine endogenous retrovirus (IAPLTR1: ERVK) insertion in exon 3 of Cryge, disrupting the coding sequence for gammaE-crystallin. Recombinant protein for the mutant gammaE was completely insoluble. The No3 cataract is mild compared with the effects of similar mutations of gammaE. Quantitative RT-PCR showed that gammaE/F mRNA levels are reduced in No3, suggesting that the relatively mild phenotype results from suppression of gammaE levels due to ERVK insertion. However, the severity of cataract is also strain dependent suggesting that genetic background modifiers also play a role in the development of opacity. |
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Authors:
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Nabanita Nag; Katherine Peterson; Keith Wyatt; Sonja Hess; Sugata Ray; Jack Favor; Debora Bogani; Mary Lyon; Graeme Wistow |
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Publication Detail:
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Type: Journal Article Date: 2007-01-12 |
Journal Detail:
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Title: Genomics Volume: 89 ISSN: 0888-7543 ISO Abbreviation: Genomics Publication Date: 2007 Apr |
Date Detail:
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Created Date: 2007-03-20 Completed Date: 2007-08-16 Revised Date: 2009-11-18 |
Medline Journal Info:
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Nlm Unique ID: 8800135 Medline TA: Genomics Country: United States |
Other Details:
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Languages: eng Pagination: 512-20 Citation Subset: IM |
Affiliation:
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Section on Molecular Structure and Functional Genomics, National Eye Institute, National Institutes of Health, Building 7, Room 201 Bethesda, MD 20892, USA. |
Export Citation:
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APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
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Animals Base Sequence Cataract / genetics* Mice Mice, Mutant Strains Mutagenesis, Insertional* Mutation* Phenotype RNA, Messenger / analysis gamma-Crystallins / genetics* |
| Grant Support | |
ID/Acronym/Agency:
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Z01 EY000255-17/EY/NEI NIH HHS |
| Chemical | |
Reg. No./Substance:
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0/RNA, Messenger; 0/crystallin gammaE; 0/gamma-Crystallins |
| Comments/Corrections | |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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