Mouse Database Guides New Understanding of Skin and Eye Health in Humans

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Researchers mined a publicly available database containing data generated and continuously updated by the International Mouse Phenotyping Consortium (IMPC (link is external)) to identify mouse genes associated with eye and skin abnormities. The IMPC database is a resource not only for the scientific community, but also for clinicians who may want to find clues from mice on the genetic basis of certain human diseases. Mouse genes often are helpful for identifying and understanding equivalent genes in humans. The NIH Common Fund Knockout Mouse Phenotyping Program (KOMP2) is part of this global effort to develop this database.

There are many skin and eye disorders resulting from the same single gene mutations in both mice and humans. For example, albinism is a disorder affecting both the skin and eyes. While there are some genes linked to some forms of albinism, other cases, such as Oculocutaneous albinism, have no clear genetic cause.

The researchers used the database to search for “knockout” mice with skin, hair, or pigmentation abnormalities. They found 307 different knockout mice with skin abnormalities. Of these, 52 also had eye abnormalities. For 17 of these 52 knockout mice, there was existing literature so the researchers already knew these gene knocks would have eye or skin problems. However, 35 of the 52 knockouts revealed new genes to study with the potential to better understand albinism. These newly identified genes may also point to potential targets for gene or drug therapy in humans.

Reference:

Genome-wide screening of mouse knockouts reveals novel genes required for normal integumentary and oculocutaneous structure and function. Moore, B. A., A. M. Flenniken, D. Clary, A. S. Moshiri, L. M. J. Nutter, Z. Berberovic, C. Owen, S. Newbigging, H. Adissu, M. Eskandarian, C. McKerlie, S. Brown, S. Wells, A.-M. Mallon, A. L. Beaudet, M. H. de Angelis, N. Karp, B. Braun, Y. Herault, X. Gao, Y. Obata, P. Flicek, T. Meehan, H. Parkinson, D. Smedley, J. K. Seong, G. Tocchini-Valentini, F. Mammano, S. M. Thomasy, K. C. K. Lloyd, C. J. Murphy, A. Moshiri and International Mouse Phenotyping Consortium. Scientific Reports. Aug 1, 2019. (1):11211.