Genes essential to life found in mouse mutants are related to many human disease genes

The researchers work is part of the International Mouse Phenotyping Consortium (IMPC) which generates and describes the physiological characteristics of mutations for all the protein-coding genes in the mouse genome. The goal of the group is to discover new functions for the 20,000 genes mice share with humans and makes all the mice strands available to help understand certain diseases that humans have. The Nature Study reported the results of the first 1,700 genes characterized by the IMPC which include 410 genes that when mutated on both the maternal and paternal copy, are lethal to mice. The researchers were able to establish both the time of embryo death and the nature of the lethal phenotypes which enabled them to discover many phenotypes that shed light on the function of these genes.

The team from Penn contributed to the bioinformatics analysis of essential genes in humans and showed their relevance to human diseases. The researchers compared the genes analyzed in the paper with a list of known human disease genes which made it possible to identify the mutant phenotypes in the mouse for 52 human disease genes. The IMPC later showed that human version of mouse essential genes are depleted for harmful mutations in humans. As a result, the researchers believe that the genes are good candidates for treating rare diseases found within humans.

Before reading this article, I knew that mice and humans shared very similar DNA sequences. However, I did not know that mutant mice genes are related to human disease genes. The researchers were able to compare the genes analyzed in the paper with a list of known human disease genes in order to identify the mutant phenotypes in the mouse for 52 human disease genes. This was an amazing article that provided a detailed explanation about the comparison of genes found in mutant mice related to many human disease genes.