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Mouse Models for Human Eye Diseases: First mutation in the beta-A2-crystallin encoding gene is associated with small lenses and age-related cataracts.

Vortrag: International Symposium on Genetic Disease, 14-16 February 2011, Manipal / Indien. (2010)
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We analyzed the offspring of paternally N-ethyl-N-nitrosourea (ENU) treated C57BL/6J mice for eye-size parameters by non-invasive in-vivo laser interference biometry. Within this screen, we identified a new mouse mutant with small lenses. Aim of the actual study is its molecular and morphological characterization. The new mutant (referred to as Aca30) is characterized by a clear, but significantly smaller lens without any changes for cornea thickness, anterior chamber depth or aqueous humor size. The smaller size of the lens was more pronounced in the homozygous mutants, which were fully fertile and viable. The mutation was mapped to chromosome 1 between the markers D1Mit251 and D1Mit253. Using a positional candidate approach, the βA2-crystallin encoding gene Cryba2 was sequenced; a T→C exchange at cDNA position 139 leads to a p.S47P amino-acid alteration. The eyes of newborn homozygous mutants showed no gross changes; at the age of three weeks, some clefts appeared at the cornea; lens and retina were without major changes. The vision test using the virtual optokinetic drum did not reveal any difference at the age of 4 weeks indicating the functional integrity of the eye and the entire visual system At the age of 25 weeks, the lenses of the heterozygous mutants develop a subcapsular cortical cataract, but the lenses of homozygous mutants are completely opaque. These findings demonstrate the first mutation in the Cryba2 gene. In con
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Publikationstyp Sonstiges: Vortrag
Konferenztitel International Symposium on Genetic Disease
Konferzenzdatum 14-16 February 2011
Konferenzort Manipal / Indien