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• W2024794859 abstract "αA-crystallin (CRYAA/HSPB4), a major component of all vertebrate eye lenses, is a small heat shock protein responsible for maintaining lens transparency. The R49C mutation in the αA-crystallin protein is linked with non-syndromic, hereditary human cataracts in a four-generation Caucasian family. This study describes a mouse cataract model generated by insertion of a neomycin-resistant (neor) gene into an intron of the gene encoding mutant R49C αA-crystallin. Mice carrying the neor gene and wild-type Cryaa were also generated as controls. Heterozygous knock-in mice containing one wild type gene and one mutated gene for αA-crystallin (WT/R49Cneo) and homozygous knock-in mice containing two mutated genes (R49Cneo/R49Cneo) were compared. By 3 weeks, WT/R49Cneo mice exhibited large vacuoles in the cortical region 100 μm from the lens surface, and by 3 months posterior and nuclear cataracts had developed. WT/R49Cneo mice demonstrated severe posterior cataracts at 9 months of age, with considerable posterior nuclear migration evident in histological sections. R49Cneo/R49Cneo mice demonstrated nearly complete lens opacities by 5 months of age. In contrast, R49C mice in which the neor gene was deleted by breeding with CreEIIa mice developed lens abnormalities at birth, suggesting that the neor gene may suppress expression of mutant R49C αA-crystallin protein. It is apparent that modification of membrane and cell-cell interactions occurs in the presence of the αA-crystallin mutation and rapidly leads to lens cell pathology in vivo." @default.
• W2024794859 created "2016-06-24" @default.
• W2024794859 creator A5022976296 @default.
• W2024794859 date "2009-07-20" @default.
• W2024794859 modified "2023-10-06" @default.
• W2024794859 title "αA-crystallin R49Cneomutation influences the architecture of lens fiber cell membranes and causes posterior and nuclear cataracts in mice" @default.
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• W2024794859 doi "https://doi.org/10.1186/1471-2415-9-4" @default.
• W2024794859 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/2724435" @default.
• W2024794859 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/19619312" @default.
• W2024794859 hasPublicationYear "2009" @default.
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