Tagged mutagenesis by efficient Minos-based germ line transposition. by de Wit, T, Dekker, S, Maas, A, Breedveld, G, Knoch, T, Langeveld, A, Szumska, D, Craig, R, Bhattacharya, S, Grosveld, F, Drabek, D

IDENTIFICATION OF NOVEL MOUSE MODELS OF CARDIOVASCULAR DEVELOPMENTAL MALFORMATIONS USING ETHYLNITROSOUREA MUTAGENESIS by Szumska, D, Pieles, G, Franklyn, A, Schneider, J, Clarke, K, Neubauer, S, Brown, S, Bhattacharya, S

Dissecting the genetics of heart development using ENU mutagenesis and magnetic resonance imaging by Pieles, G, Franklyn, A, Norris, D, Schneider, J, Bhattacharya, S, Szumska, D

Discovery and pharmacophoric characterization of chemokine network inhibitors using phage-display, saturation mutagenesis and computational modelling by Vales, S, Kryukova, J, Chandra, S, Smagurauskaite, G, Payne, M, Clark, CJ, Hafner, K, Mburu, P, Denisov, S, Davies, G, Outeiral, C, Deane, CM, Morris, GM, Bhattacharya, S

“…Our results indicate that peptides with broad-spectrum anti-chemokine activity and therapeutic potential may be identified from evasins, and the pharmacophore characterised by phage display, saturation mutagenesis and computational modelling.…”

Mouse mutagenesis identifies novel roles for left-right patterning genes in pulmonary, craniofacial, ocular, and limb development. by Ermakov, A, Stevens, J, Whitehill, E, Robson, J, Pieles, G, Brooker, D, Goggolidou, P, Powles-Glover, N, Hacker, T, Young, SR, Dear, N, Hirst, E, Tymowska-Lalanne, Z, Briscoe, J, Bhattacharya, S, Norris, D

High efficiency sequence specific mutagenesis on CD1, C57Bl6/J and C3H genetic backgrounds by microinjection of TAL-Effector nucleases (TALENs) mRNA by Davies, B, Davies, G, Preece, C, Bhattacharya, S

Site specific mutation of the Zic2 locus by microinjection of TALEN mRNA in mouse CD1, C3H and C57BL/6J oocytes by Davies, B, Davies, G, Preece, C, Puliyadi, R, Szumska, D, Bhattacharya, S

“…In this report we investigate the feasibility of achieving targeted mutagenesis by microinjection of TALEN mRNA within the mouse oocyte. …”

Identification of cardiac malformations in mice lacking Ptdsrusing a novel high-throughput magnetic resonance imaging technique by Schneider, J, Böse, J, Bamforth, S, Gruber, A, Broadbent, C, Clarke, K, Neubauer, S, Lengeling, A, Bhattacharya, S

“…The identification of murine models of congenital cardiac malformations in high-throughput mutagenesis screens and in gene-targeted models is hindered by the opacity of the mouse embryo.…”

Making the mouse embryo transparent: identifying developmental malformations using magnetic resonance imaging. by Schneider, J, Bhattacharya, S

“…The genetics of developmental malformations are powerfully studied by using high-throughput, phenotype-driven screens (e.g., following zebrafish or mouse mutagenesis) or by genotype-driven studies using transgenic or knockout mice. …”

High-resolution imaging of normal anatomy, and neural and adrenal malformations in mouse embryos using magnetic resonance microscopy. by Schneider, J, Bamforth, S, Farthing, C, Clarke, K, Neubauer, S, Bhattacharya, S

“…Thus magnetic resonance microscopy can be used to rapidly identify developmental and organ malformations in mutant mouse embryos generated by transgenic techniques, in high-throughput mutagenesis screens, or in screens to identify teratogenic compounds and environmental factors contributing to developmental malformations.…”

A requirement for Zic2 in the regulation of nodal expression underlies the establishment of left-sided identity by Dykes, I, Szumska, D, Kuncheria, L, Puliyadi, R, Chen, C, Papanayotou, C, Lockstone, H, Dubourg, C, David, V, Schneider, J, Keane, T, Adams, D, Brown, S, Mercier, S, Odent, S, Collignon, J, Bhattacharya, S

“…Analysis of ChiP-seq data, in vitro transcriptional assays and mutagenesis reveals a requirement for a low-affinity ZIC2 binding site for the activation of the Nodal enhancer HBE, which is normally active in node precursor cells. …”

Hes1 expression is reduced in Tbx1 null cells and is required for the development of structures affected in 22q11 deletion syndrome. by van Bueren, K, Papangeli, I, Rochais, F, Pearce, K, Roberts, C, Calmont, A, Szumska, D, Kelly, R, Bhattacharya, S, Scambler, P

“…Similar to Tbx1 mice, conditional mutagenesis revealed that Hes1 expression in embryonic pharyngeal ectoderm contributes to thymus and pharyngeal arch artery development. …”

microMRI-HREM pipeline for high-throughput, high-resolution phenotyping of murine embryos. by Pieles, G, Geyer, S, Szumska, D, Schneider, J, Neubauer, S, Clarke, K, Dorfmeister, K, Franklyn, A, Brown, S, Bhattacharya, S, Weninger, W

“…To demonstrate the potential of this methodology we show embryo phenotyping results produced in a large-scale ENU-mutagenesis study. In essence this represents an analysis pipeline, which starts with simultaneous micro-magentic resonance imaging (microMRI) screening (voxel size: 25.4 x 25.4 x 24.4 microm) of 32 embryos in one run. …”

Cardiac malformations and midline skeletal defects in mice lacking filamin A. by Hart, A, Morgan, J, Schneider, J, West, K, McKie, L, Bhattacharya, S, Jackson, I, Cross, S

“…These results define crucial roles for Flna in development, demonstrate that X-linked male lethal mutations can be recovered from ENU mutagenesis screens and suggest possible explanations for lethality of human males hemizygous for null alleles of FLNA.…”

A mutation in the mitochondrial fission gene Dnm1l leads to cardiomyopathy. by Ashrafian, H, Docherty, L, Leo, V, Towlson, C, Neilan, M, Steeples, V, Lygate, C, Hough, T, Townsend, S, Williams, D, Wells, S, Norris, D, Glyn-Jones, S, Land, J, Barbaric, I, Lalanne, Z, Denny, P, Szumska, D, Bhattacharya, S, Griffin, J, Hargreaves, I, Fernandez-Fuentes, N, Cheeseman, M, Watkins, H, Dear, T

“…Accordingly, as part of a large-scale N-ethyl-N-nitrosourea mutagenesis screen, we identified a mouse mutant, Python, which develops DCM. …”

Genetic mechanisms controlling cardiovascular development. by Bentham, J, Bhattacharya, S

“…To identify these genes, we have developed an enabling technology (high-throughput magnetic resonance imaging of mouse embryos), which is used in combination with N-ethyl-N-nitrosourea/transposon mutagenesis and knockout techniques. Key future challenges now involve translating discoveries made in mouse models to human CHD genetics and understanding the mechanisms that create and disrupt genetic buffering. …”

A mutation in the mitochondrial fission gene Dnm1l leads to cardiomyopathy by Ashrafian, H, Docherty, L, Leo, V, Towlson, C, Neilan, M, Steeples, V, Lygate, C, Hough, T, Townsend, S, Williams, D, Wells, S, Norris, D, Glyn-Jones, S, Land, J, Barbaric, I, Lalanne, Z, Denny, P, Szumska, D, Bhattacharya, S, Griffin, J, Hargreaves, I, Fernandez-Fuentes, N, Cheeseman, M, Watkins, H, Dear, T

“…Accordingly, as part of a large-scale N-ethyl-Nnitrosourea mutagenesis screen, we identified a mouse mutant, Python, which develops DCM. …”