| Type | MGI:General | Description | immunohistochemistry of embryonic fibroblasts, femoral articular cartilage, and skin shows fibrillin 2 microfibrils in discrete foci adjacent to nuclei rather than in extracellular matrix, and in situ hybridization of E13.5 eyes shows intracellular fibrillin 2 expression in cells of the anterior eye, particularly in the non-pigmented ciliary region, rather than the normal extracellular expression in the periocular mesenchyme and the anterior region of the eye between the neural retina and lens endoplasmic reticulum stress was found in regions where fibrilin 2 inclusions are found, including the anterior developing ciiary margin of the developing eye quantitative label-free mass-spectrometry of culture medium from E13.5 embryonic fibroblasts shows reduced secretion of many extracellular proteins, including collagens, periostin, and folistatin-like 1, and immunoblotting for intracellular levels of collagen type VI alpha 1 shows increased intracellular retention |
