Genotyping and Mutation Detection Screens

The Genotyping and Mutation detection Screens(GEMS) Core facility provides MRC Harwell scientists with high-throughput molecular genetic technologies.

We offer three services:

Genotyping and Genetic Mapping

Single locus genotyping: e.g. to distinguish heterozygous, homozygous mutant and wild-type mice.
Fine genetic mapping: e.g. genotyping a group of animals with a set of markers spaced across a chromosomal region, identified from a genome scan, in order to map the most likely genetic location of a mutant locus.

Mutation Detection

Gene-specific screens: finding mutant alleles of known genes by scanning PCR products amplified from genomic DNA from the Harwell ENU archive.
Candidate gene scanning: when an ENU mutation has been mapped to a small genomic region containing only a handful of genes, similar methods can be used to find mutations, in parallel with sequencing.

ENU archive DNA production and distribution

Parallel DNA and sperm archives were established as part of the Mutagenesis program. Various tissues and spermatozoa, derived from the first generation (G1) male offspring of ENU treated male mice (G0) bred at Harwell, are cryopreserved in the Harwell Frozen Embryo & Sperm Archive. DNAs are purified from the frozen tissues by GEMS staff, and distributed to scientists at Harwell and elsewhere, for use in gene-specific mutation screens.