The Sanger Mouse Genetics Programme: high throughput characterisation of knockout mice

  title={The Sanger Mouse Genetics Programme: high throughput characterisation of knockout mice},
  author={Ak Gerdin},
  journal={Acta Ophthalmologica},
  • A. Gerdin
  • Published 1 September 2010
  • Biology, Medicine
  • Acta Ophthalmologica
Purpose The Sanger Mouse Genetics Programme (MGP) aims to make a significant impact on our understanding of the function of genes and their role in disease by generating, characterising and archiving in the order of 200 lines of knockout mice per year, including 40 lines as part of the EUMODIC consortium. The phenotyping screens employed include a wide range of assays relevant to key disease areas including diabetes, obesity, hearing and vision disorders, immune disorders, pain and motor… 

Identification and Validation of DLG2 as a Novel Tumor Suppressor in Osteosarcoma

By leveraging biological conversation across species, DLG2 is identified as a novel tumor suppressor in OS and can be widely applied to other human cancers, offering an approach to shortlist potential candidate genes within large chromosomal altered regions, and prioritize their functional validation.

Rare Variants in Inborn Errors of Immunity Genes Associated With Covid-19 Severity

A deeply sequenced dataset of nearly 500 patients, all of Chinese descent, is used to investigate putative functional rare variants and identify candidate genes/pathways that can be potentially used as Covid-19 diagnostic markers and help distinguish patients at higher risk.

Molecular genetic investigation of medullary thyroid cancer

A novel method of gene predisposition identification in the context of MTC is established and the on-going functional work may elucidate targets for novel therapies that may include pre-existing anti-oestrogen.

Analysis of Dip2B Expression in Adult Mouse Tissues Using the LacZ Reporter Gene

Disconnected (disco)-interacting protein 2 homolog B (Dip2B) is a member of the Dip2 superfamily and plays an essential role in axonal outgrowth during embryogenesis. In adults, Dip2B is highly

Molecular and Biological Aspects of Microcephalin Gene: Directions in Brain Tumor and Methylation

This chapter provides a brief literature of the investigations carried out on the role of MCPH1 gene alterations in various types of cancer and some other diseases and the methylation data of the very recent research together with protein expression in brain tumors are provided.

Genome-wide association study reveals genetic loci and candidate genes for average daily gain in Duroc pigs

This study contributes to the identification of the casual mutation that underlies QTLs associated with ADG and to future pig breeding programs based on marker-assisted selection.

Dynamic comparisons of high-resolution expression profiles highlighting mitochondria-related genes between in vivo and in vitro fertilized early mouse embryos.

It is demonstrated that some mitochondrial dysfunctions in IVF embryos, including impaired mitochondrial biogenesis, dysregulated GSH homeostasis and reactive oxygen species-induced apoptosis, can be rescued by treatment with melatonin, a mitochondria-targeted antioxidant, during in vitro culture.

SLC41A1, SLC41A3 and CNNM2: Magnesium responsive genes with potential involvement in human ailments

It is demonstrated that the substitution p.A350V potentially associated with PD is a gain-of-function mutation that enhances a core function of SLC41A1, namely Na-dependent Mg efflux by 69610% under experimental conditions, which might result in chronic intracellular Mg-deficiency.

The phospholipase D superfamily as therapeutic targets.

  • M. Frohman
  • Biology
    Trends in pharmacological sciences
  • 2015