Background The International Mouse Phenotyping Consortium (IMPC) is a database that characterizes the function of over 20,000 protein-encoding genes in mice through knockout. Each knockout gene and its associated phenotype can be accessed through their website. For this project, we used the IMPC to explore the Atlastin GTPase 3 gene (Atl3), a gene related to Hereditary Sensory Neuropathy Type 1F (HSN1F). HSN1F is a rare neurological genetic disorder, characterized by the loss of sensation to the hands and feet due to a mutation in Atl3. When Atl3 is knocked out in mice, the IMPC revealed seven phenotypes: enlarged prostate gland, abnormal liver morphology, small adrenal glands, small kidney, enlarged lymph nodes, cataract, and enlarged urinary bladder.

Methods The National Organization for Rare Disorders (NORD) was used to identify the disease of interest and its associated gene, Atl3. Using the IMPC database, seven phenotypes associated with the Atl3 knockout mice were identified and compiled into a well-known analytical tool, Microsoft Excel. The genes that showed that phenotype when knocked out in mice were compiled for each phenotype. Using variations of a common algorithm and conditional formatting in Microsoft Excel, the specific number of times a gene showed up and the number of phenotypes each gene was associated with were sorted visually with a specific color. Further analysis, totaling the number of times each specific gene appeared in multiple times was formatted graphically.

Results The seven phenotypes associated with the Atl3 knockout mice were enlarged prostate gland, abnormal liver morphology, small adrenal glands, small kidney, enlarged lymph nodes, cataract, and enlarged urinary bladder. Our analysis revealed four genes, dynein cytoplasmic 1 light intermediate chain 1 (dync1li1), piggyBac transposable element derived 1 (Pgbd1), MAS-related GPR, member B2 (Mrgprb2), and ADNP homeobox 2 (Adnp2), that when knocked out in mice shared five of the seven phenotypes associated with the Atl3 knockout mouse.

Conclusion Through the IMPC database, we identified dync1li1, Pgbd1, Mrgprb2, and Adnp2 as genes that potentially have an interaction or could be involved in pathways with Atl3 because they share five of the seven phenotypes. Based on our data, further research is recommended into these genes and how they relate to Atl3 as it shares these phenotypes. Utilizing currently existing tools such as the IMPC, genes and their interactions can be identified to further find genes that may have not been extensively studied yet that mimic the loss of Atl3.