File:Pax6 eye phenotypes.jpg

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Pax 6 and Knockout Phenotypes

Phenotypes of wild-type (top) and PAX6 ortholog mutations (bottom) in human, mouse, zebrafish, and fly can be described with the EQ method. EQ annotations of the abnormal phenotypes are listed below each set of images per organism. Note that the anatomical entities are from ssAOs and qualities are from the PATO ontology.

These PAX6 phenotypes have been described textually as follows:

  • Human - mutations may result in aniridia (absence of iris), corneal opacity (aniridia-related keratopathy), cataract (lens clouding), glaucoma, and long-term retinal degeneration.
  • Mouse - mutants exhibit extreme microphthalmia with lens/corneal opacity and iris abnormality, and there is a large plug of persistent epithelial cells that remains attached between the cornea and the lens.
  • Zebrafish - mutants express a variable and modifiable phenotype that consists of decreased eye size, reduced lens size, and malformation of the retina.
  • Drosophila - ey (a PAX6 ortholog) mutations cause loss of eye development.

The genotypes shown are E15 mouse Pax614Neu/14Neu [68], 5 day zebrafish pax6btq253a/tq253a [69], human PAX6+/− [70], and Drosophila ey−/− [71].


Links: Vision Development | Pax

Reference

<pubmed>19956802</pubmed>| PLoS Biol.


Copyright

This is an open-access article distributed under the terms of the Creative Commons Public Domain declaration which stipulates that, once placed in the public domain, this work may be freely reproduced, distributed, transmitted, modified, built upon, or otherwise used by anyone for any lawful purpose.


Original File Name: Figure 1. http://www.plosbiology.org/article/slideshow.action?uri=info:doi/10.1371/journal.pbio.1000247&imageURI=info:doi/10.1371/journal.pbio.1000247.g001



Cite this page: Hill, M.A. (2024, June 18) Embryology Pax6 eye phenotypes.jpg. Retrieved from https://embryology.med.unsw.edu.au/embryology/index.php/File:Pax6_eye_phenotypes.jpg

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© Dr Mark Hill 2024, UNSW Embryology ISBN: 978 0 7334 2609 4 - UNSW CRICOS Provider Code No. 00098G

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current00:22, 23 September 2010Thumbnail for version as of 00:22, 23 September 20101,000 × 662 (152 KB)S8600021 (talk | contribs)==Pax 6 and Knockout Phenotypes== Phenotypes of wild-type (top) and PAX6 ortholog mutations (bottom) in human, mouse, zebrafish, and fly can be described with the EQ method. EQ annotations of the abnormal phenotypes are listed below each set of images pe