EO2: Using the International Mouse Phenotyping Consortium to Identify Genes Potentially Related to Pcm1

POSTER (Image):


PRESENTER: Nabih Ghani  

AUTHORS: Nabih Ghani, Chinglan Chang B.S., Edwin Oh Ph.D.

MENTOR: Edwin Oh Ph.D.


The primary cilium is an important organelle in mammalian cells that plays a role in cell signaling and development. Problems with the function of primary cilia in cells are linked with many disorders that are collectively known as ciliopathies. Pericentriolar Material 1 (Pcm1) is a gene that plays an important role in the functioning of primary cilia. The goal of this project was to find genes that show phenotypes similar to Pcm1 when knocked out in mice. Using the International Mouse Phenotyping Consortium (IMPC), a database that houses data about knockout genes and their associated phenotypes in mice, we found nine phenotypes associated with a knockout mouse model of Pcm1. Then, using the IMPC database, we were able to identify genes associated with each phenotype and compiled and analyzed the data in Excel. During the summer, the analysis of the data revealed three genes that when deleted in mice shared six of the nine phenotypes associated with the Pcm1 knockout mouse. The three genes were Dnase1l2, Slc20a2, and Sparc. The IMPC database is often updated and performing this analysis after the updates will help identify more potential genes that mimic the loss of Pcm1. By identifying these genes, we can find new avenues for research that are associated with our gene of interest.

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