The German Mouse Clinic: recent findings from the Eye Screen

• Published in: Acta ophthalmologica (Oxford, England) Vol. 88; no. s246
• Main Authors: PUK, O, FAVOR, J, SUN, M, GRAW, J
• Format: Journal Article
• Language: English
• Published: Oxford, UK Blackwell Publishing Ltd 01.09.2010
• ISSN: 1755-375X; 1755-3768
• DOI: 10.1111/j.1755-3768.2010.4143.x

Purpose The purpose of this study was the large‐scale screening of different mouse mutant lines in order to detect novel models for eye disorders. Methods The eyes of the mouse mutants were analyzed by slit lamp biomicroscopy, funduscopy, laser interference biometry, optokinetic drum, and histology. Results In the past 12 months, 46 mouse mutant lines were investigated in the primary Eye Screen of the German Mouse Clinic (GMC). These included Csemp1 and Aey69 that exhibited irregular eye development. All tested mice of the mutant line Csemp1 unexpectedly showed white fundus flecks and significantly reduced axial eye lengths. Moreover, we additionally found strong opacities in a least a portion of the Csemp1 mutant lenses. Aey69 mice are severely microphthalmic due to a yet undefined ENU‐induced mutation. The rudimentary eyes completely lack ocular structures as iris or lens. Further significant irregularities in fat metabolism, immunology, and behaviour were detected in the GMC‐wide primary screen. Linkage studies mapped the mutated site on chromosome 3 within a 0.78 Mb spanning region between the flanking microsatellite markers D3Mit188 and D3Mit76. Among the 34 positional candidate genes, Tnrc4 (elav‐like family member 3) and Selenbp1 (selenium binding protein 1) are expressed in the eye. Sequencing studies in order to detect the causative mutation of Aey69 are in process. Conclusion Two novel mouse models for microphthalmia were detected in the primary Eye Screen of the GMC. These mutant lines will provide further insights into molecular mechanisms behind this kind of eye disease.