Introduction
Model organisms are an irreplaceable tool in biological research, but especially so for genetic research. Great model organisms are similar enough to humans for the knowledge gleaned from them to be at least somewhat applicable, but also small enough for upkeep to be easier. Other benefits of model organisms include their shorter generation times to make genetic lines easier to generate, transparency to make visualization of biological processes/fluorescence easier to visualize, and generally less ethical concerns.
Results and Discussion
Mouse Database
After scanning through various databases for the popular model organisms, only the mouse database (MGI) had useful information for my study questions. I was specifically looking for information on phenotypes for HGD mutations, as the phenotype will make screening easy, and organisms without any documented phenotype associated with a mutated HGD may not actually suffer from any form of alkaptonuria.
Mice have been shown to have elevated urine homogentisic acid and abnormal renal system morphologies when they possess mutations compromising the function of the HGD gene [1]. Mice do not suffer from the black plaques associated with human alkaptonuria, which may be due to their ability to synthesize vitamin C on their own [2]. This is useful because the metabolic effects beyond that of the black plaques can be studied easily in mice. |
References:
[1] Blake JA, Eppig JT, Kadin JA, Richardson JE, Smith CL, Bult CJ, and the Mouse Genome Database Group. 2017. Mouse Genome Database (MGD)-2017: community knowledge resource for the laboratory mouse. Nucl. Acids Res. 2017 Jan. 4;45 (D1): D723-D729. [2] Preston AJ, Keenan CM, Sutherland H, et al Ochronotic osteoarthropathy in a mouse model of alkaptonuria, and its inhibition by nitisinone Annals of the Rheumatic Diseases Published Online First: 19 March 2013. doi: 10.1136/annrheumdis-2012-202878 |
Image references:
Header: http://dev.biologists.org/content/develop/141/21/4042/F3.large.jpg Mouse image: https://www.the-scientist.com/images/News/August2017/Mouse_vitC.png |