Missense Mutation Library

Enquiries

 +612 6125 1324

Utilising whole exome sequencing and our N-ethyl-N-nitrosourea (ENU) mouse mutagenesis pipeline we are generating thousands of known missense and nonsense variants per year on the inbred C57BL/6 genetic background. We are rapidly expanding the number of genes with mutations and in a large proportion of genes we have collected an allelic series.

Our fully searchable Missense Mutation Library database contains over 19,928 single nucleotide variants (SNVs) which affect 10498 genes, representing 44% of all known genes. Interrogation of the Missense Mutation Library is assisted through annotations by Mouse Genome Informatics (MGI) and Online Mendelian Inheritance in Man (OMIM) and Orphanet, linking your search to publically available information related to your gene of interest.

How to order

Researchers please register your interest in a particular SNV using the online form available via the Missense Mutation Library database.

We will then validate the presence of the SNV confirming it is a true ENU mutation within either our live or cryopreserved stock.

Following strain propagation a breeding colony can either be sent to your institution under the terms of an SNV-specific material transfer agreement, or the mice can be phenotyped here under the management of our experienced project managers and technicians.

Updated:  19 August 2017/Responsible Officer:  Director/Page Contact:  Site manager