Identification and characterisation of spontaneous mutations causing deafness from a targeted knockout programme.

ABSTRACT:

Background

Mice carrying targeted mutations are important for investigating gene function and the role of genes in disease, but off-target mutagenic effects associated with the processes of generating targeted alleles, for instance using Crispr, and culturing embryonic stem cells, offer opportunities for spontaneous mutations to arise. Identifying spontaneous mutations relies on the detection of phenotypes segregating independently of targeted alleles, and having a broad estimate of the level of mutations generated by intensive breeding programmes is difficult given that many phenotypes are easy to miss if not specifically looked for. Here we present data from a large, targeted knockout programme in which mice were analysed through a phenotyping pipeline. Such spontaneous mutations

SUBMITTER: Lewis MA 

PROVIDER: S-EPMC8928630 | biostudies-literature | 2022 Mar

REPOSITORIES: biostudies-literature