Molecular Eye Disease
Mouse mutants affecting eye development and the health status of ocular tissues (cornea, lens, retina, optic nerve) are being characterized in a functional, morphological and molecular manner. In course of our ongoing ENU-mutagenesis screen (in cooperation with the HMGU-Institute of Experimental Genetics we are picking up mouse variants by
 slit lamp analysis: general appearance of the eye and transparency of the cornea and lens |  laser interference biometry: various eye size parameters |
 funduscopy: retinal degeneration |  virtual optic drum: general properties of the visual system |
Based upon the underlying mutation and the responsible phenotype, mouse mutations are grouped
- Mouse mutations affecting early eye development
- Mouse mutations affecting the axial length of the eye
- Mouse mutations causing lens opacities (cataracts)
- Mouse mutations affecting the retina or optic nerve
The mice are available either from the breeding colony (please contact Jochen Graw via email: graw@helmholtz-muenchen.de) or from the sperm archive (please contact the European Mouse Mutant Archive, EMMA; www.emmanet.org).
We are running also the vision screen within the German Mouse Clinic (GMC www.helmholtz-muenchen.de/en/ieg/gmc/). Here we can use more sensitive instruments like
 Scheimpflug camera: quantification of the transparency of the cornea and lens |  Optical coherence tomography: imaging of the retina. |
Further topics:
- Hamster models for eye diseases
- Rat models for eye diseases
- Human mutations causative for congenital cataracts
- Cataracts and ionizing radiation
Most important publications:
Puk O, Ahmad N, Wagner S*, Hrabé de Angelis M*, Graw J: First mutation in the βA2-crystallin encoding gene is associated with small lenses and age-related cataracts. Invest. Ophthalmol. Vis. Sci. 52, 2571-2576 (2011)
Rosemann M*, Ivashkevich A,* Favor J*, Dalke C, Hölter SM, Becker L, Rácz I, Bolle I*, Klempt M*, Rathkolb B, Kalaydjiev S*, Adler T, Aguilar A, Hans W*, Horsch M*, Rozman J, Calzada-Wack J*, Kunder S, Gailus-Durner V*, Fuchs H*, Naton B*, Schulz H*, Beckers J*, Busch DH, Burbach JPH, Smidt MP, Quintanilla-Martinez L, Esposito I*, Klopstock T, Klingenspor M, Ollert M, Wolf E, Wurst W, Zimmer A, Hrabé de Angelis M*, Atkinson M*, Heinzmann U*, Graw J: Microphthalmia, Parkinsonism and enhanced nociception in Pitx3416insG mice. Mamm. Genome 21, 13-27 (2010)
Puk O, Dalke C, Calzada-Wack J*, Ahmad N, Klaften M*, Wagner S*, Hrabé de Angelis M*, Graw J: Reduced corneal thickness and enlarged anterior chamber in a novel ColVIIIa2G257D mutant mouse. Invest. Ophthalmol. Vis. Sci. 50, 5653-5661 (2009)
Puk O, Löster J, Dalke C, Soewarto D*, Fuchs H*, Budde B, Nürnberg P, Wolf E, Hrabé de Angelis M*, Graw J: Mutation in a novel connexin-like gene (Gjf1) in the mouse affects early lens development and causes a variable small-eye phenotype. Invest. Ophthalmol. Vis. Sci. 49, 1525-1532 (2008)
Söker T, Dalke C, Puk O, Floss T, Becker L, Bolle I*, Favor J*, Hans W*, Hölter SM, Horsch M*, Kallnik M, Kling E*, Mörth C*, Schrewe A, Stigloher C, Topp S, Gailus-Durner V*, Naton B*, Beckers J*, Fuchs H*, Ivandic B, Klopstock T, Schulz H*, Wolf E, Wurst W, Bally-Cuif L, Hrabé de Angelis M*, Graw J: Pleiotropic effects in Eya3 knockout mice. BMC Dev. Biol. 8, 118 (doi:10.1186/1471-213X-8-118) (2008)