# A Murine Database of Structural Variants Identifies A Candidate Gene for a Spontaneous Murine Lymphoma Model

## TL;DR

A database of genetic variations in mice identifies a gene linked to lymphoma susceptibility, offering insights into cancer genetics.

## Contribution

A high-quality database of structural variants in 40 mouse strains reveals a candidate gene for lymphoma susceptibility.

## Key findings

- A long deletion in SJL mice removes a tumor suppressor gene linked to B-cell lymphoma susceptibility.
- The database includes 573,191 structural variants across 40 inbred mouse strains.
- The identified SV contributes to a bi-genic model for lymphoma susceptibility in mice.

## Abstract

A more complete map of the pattern of genetic variation among inbred mouse strains is essential for characterizing the genetic architecture of the many available mouse genetic models of important biomedical traits. Although structural variants (SVs) are a major component of genetic variation, they have not been adequately characterized among inbred strains due to methodological limitations. To address this, we generate high‐quality long‐read sequencing data for 40 inbred strains; and design a pipeline to optimally identify and validate different types of SVs. This generates a database for 40 inbred strains with 573,191 SVs, which include 10,815 duplications and 2,115 inversions, which also has 70 million SNPs and 7.5 million insertions/deletions. Analysis of this SV database identifies an SV that can be one component of a bi‐genic model for lymphoma susceptibility in SJL mice, which provides mechanistic insight into the genetic basis for susceptibility to murine (and potentially human) lymphomas.

We analyzed long‐read genomic sequencing data obtained from 40 inbred mouse strains to produce a large database of structural variants. This dataset captures the major types of structural variants, which includes deletions, insertions, duplications, and inversions. Analysis of this dataset identifies a long deletion that eliminates a tumor suppressor in SJL mice, which is strongly associated with their increased susceptibility to B‐cell lymphoma.