Deciphering the mechanisms of developmental disorders: phenotype analysis of embryos from mutant mouse lines.

Abstract:

:The Deciphering the Mechanisms of Developmental Disorders (DMDD) consortium is a research programme set up to identify genes in the mouse, which if mutated (or knocked-out) result in embryonic lethality when homozygous, and initiate the study of why disruption of their function has such profound effects on embryo development and survival. The project uses a combination of comprehensive high resolution 3D imaging and tissue histology to identify abnormalities in embryo and placental structures of embryonic lethal lines. The image data we have collected and the phenotypes scored are freely available through the project website (http://dmdd.org.uk). In this article we describe the web interface to the images that allows the embryo data to be viewed at full resolution in different planes, discuss how to search the database for a phenotype, and our approach to organising the data for an embryo and a mutant line so it is easy to comprehend and intuitive to navigate.

journal_name

Nucleic Acids Res

journal_title

Nucleic acids research

authors

Wilson R,McGuire C,Mohun T,DMDD Project.

doi

10.1093/nar/gkv1138

subject

Has Abstract

pub_date

2016-01-04 00:00:00

pages

D855-61

issue

D1

eissn

0305-1048

issn

1362-4962

pii

gkv1138

journal_volume

44

pub_type

杂志文章
  • Cloning of soybean leghemoglobin structural gene sequences synthesized in vitro.

    abstract::Double-stranded soybean leghemoglobin DNA was synthesized from leghemoglobin mRNA isolated from soybean nodules. The dsDNA was inserted into the Bam H1 site of plasmid pBR322 using the poly-dAT-joiner method. A cloned DNA fragment of one recombinant plasmid was isolated and characterized by restriction endonuclease di...

    journal_title:Nucleic acids research

    pub_type: 杂志文章

    doi:10.1093/nar/6.9.3061

    authors: Truelsen E,Gausing K,Jochimsen B,Jørgensen P,Marcker KA

    更新日期:1979-07-11 00:00:00

  • Nucleotide sequences of three tRNA genes encoded in Tetrahymena mitochondrial DNA.

    abstract::Nucleotide sequences of three cloned restriction fragments of Tetrahymena mtDNA which showed hybridization with mitochondrial tRNA have been determined. EcoRI fragment 5 (4.1 kbp) contains the tRNAphe gene sequence with anticodon GAA; Hind III fragment 6 (2.0 kbp) the tRNAhis with anticodon GTG; and EcoRI fragment 7 (...

    journal_title:Nucleic acids research

    pub_type: 杂志文章

    doi:10.1093/nar/13.9.3273

    authors: Suyama Y

    更新日期:1985-05-10 00:00:00

  • Activation of neocarzinostatin chromophore and formation of nascent DNA damage do not require molecular oxygen.

    abstract::Thiol-activated neocarzinostatin chromophore abstracts tritium from the 5', but not from the 1' or 2' positions of deoxyribose in DNA and incorporates it into a stable, non-exchangeable form. The abstracted tritium remains covalently associated with the chromophore or its degradation product after treatment with acid ...

    journal_title:Nucleic acids research

    pub_type: 杂志文章

    doi:10.1093/nar/13.5.1637

    authors: Kappen LS,Goldberg IH

    更新日期:1985-03-11 00:00:00

  • Rapid, modular and reliable construction of complex mammalian gene circuits.

    abstract::We developed a framework for quick and reliable construction of complex gene circuits for genetically engineering mammalian cells. Our hierarchical framework is based on a novel nucleotide addressing system for defining the position of each part in an overall circuit. With this framework, we demonstrate construction o...

    journal_title:Nucleic acids research

    pub_type: 杂志文章

    doi:10.1093/nar/gkt605

    authors: Guye P,Li Y,Wroblewska L,Duportet X,Weiss R

    更新日期:2013-09-01 00:00:00

  • E1A represses apolipoprotein AI enhancer activity in liver cells through a pRb- and CBP-independent pathway.

    abstract::The apolipoprotein AI (apoAI) promoter/enhancer contains multiple cis -acting elements on which a variety of hepatocyte-enriched and ubiquitous transcription factors function synergistically to regulate liver-specific transcription. Adenovirus E1A proteins repress tissue-specific gene expression and disrupt the differ...

    journal_title:Nucleic acids research

    pub_type: 杂志文章

    doi:10.1093/nar/26.7.1761

    authors: Kilbourne EJ,Evans MJ,Karathanasis SK

    更新日期:1998-04-01 00:00:00

  • Replication of tomato golden mosaic virus DNA B in transgenic plants expressing open reading frames (ORFs) of DNA A: requirement of ORF AL2 for production of single-stranded DNA.

    abstract::Tomato golden mosaic geminivirus has a genome of two single-stranded (ss) DNA components, A and B. An almost identical 'common' region in DNA A and DNA B is thought to contain sequence elements controlling replication and transcription. Hence investigation of sequences important for DNA replication by in vitro mutagen...

    journal_title:Nucleic acids research

    pub_type: 杂志文章

    doi:10.1093/nar/17.24.10213

    authors: Hayes RJ,Buck KW

    更新日期:1989-12-25 00:00:00

  • Use of gap repair in fission yeast to obtain novel alleles of specific genes.

    abstract::We have adapted a method for making libraries of mutations in any specific gene for use in the fission yeast Schizosaccharomyces pombe . This elegant and simple method consists of PCR amplification of the gene of interest, followed by co-transformation of fission yeast with the PCR fragment and a linearized plasmid ve...

    journal_title:Nucleic acids research

    pub_type: 杂志文章

    doi:10.1093/nar/26.20.4783

    authors: Kostrub CF,Lei EP,Enoch T

    更新日期:1998-10-15 00:00:00

  • A distinct class of homeodomain proteins is encoded by two sequentially expressed Drosophila genes from the 93D/E cluster.

    abstract::Homeodomains appear to be one of the most frequently employed DNA-binding domains in a superfamily of transacting factors. It is likely that during evolution several sub-types of homeodomain have evolved from a common ancestral domain, resulting in distinct but closely related DNA-binding preferences. Here we describe...

    journal_title:Nucleic acids research

    pub_type: 杂志文章

    doi:10.1093/nar/22.7.1202

    authors: Jagla K,Stanceva I,Dretzen G,Bellard F,Bellard M

    更新日期:1994-04-11 00:00:00

  • Purification and properties of the Eco57I restriction endonuclease and methylase--prototypes of a new class (type IV).

    abstract::The Eco57I restriction endonuclease and methylase were purified to homogeneity from the E.coli RR1 strain carrying the eco57IRM genes on a recombinant plasmid. The molecular weight of the denaturated methylase is 63 kDa. The restriction endonuclease exists in a monomeric form with an apparent molecular weight of 104-1...

    journal_title:Nucleic acids research

    pub_type: 杂志文章

    doi:10.1093/nar/20.22.6043

    authors: Janulaitis A,Petrusyte M,Maneliene Z,Klimasauskas S,Butkus V

    更新日期:1992-11-25 00:00:00

  • Ligation mediated PCR performed at low denaturation temperatures--PCR melting profiles.

    abstract::We show that using low denaturation temperatures (80-88 degrees C) during ligation mediated PCR (LM PCR) of bacterial DNA leads to the amplification of limited sets of the less stable DNA fragments. A set of electrophoretic patterns of such fragments obtained at different denaturation temperatures forms the PCR meltin...

    journal_title:Nucleic acids research

    pub_type: 杂志文章

    doi:10.1093/nar/gng116

    authors: Masny A,Płucienniczak A

    更新日期:2003-09-15 00:00:00

  • SitEx: a computer system for analysis of projections of protein functional sites on eukaryotic genes.

    abstract::Search of interrelationships between the structural-functional protein organization and exon structure of encoding gene provides insights into issues concerned with the function, origin and evolution of genes and proteins. The functions of proteins and their domains are defined mostly by functional sites. The relation...

    journal_title:Nucleic acids research

    pub_type: 杂志文章

    doi:10.1093/nar/gkr1187

    authors: Medvedeva I,Demenkov P,Kolchanov N,Ivanisenko V

    更新日期:2012-01-01 00:00:00

  • Enzymatic synthesis of 2'-modified nucleic acids: identification of important phosphate and ribose moieties in RNase P substrates.

    abstract::For the first time mosaic nucleic acids composed of 50% RNA and 50% DNA can be obtained as transcripts with T7 RNA polymerase. Two NTPs could be replaced simultaneously in a transcription reaction. This means more than 40 deoxynucleotides were inserted in one transcript. Previously, a maximum of two deoxynucleotides c...

    journal_title:Nucleic acids research

    pub_type: 杂志文章

    doi:10.1093/nar/23.11.1845

    authors: Conrad F,Hanne A,Gaur RK,Krupp G

    更新日期:1995-06-11 00:00:00

  • A computer assisted method for the determination of restriction enzyme recognifion sites.

    abstract::A computer program has been developed which aids in the determination of restriction enzyme recognition sequences. This is achieved by cleaving DNAs of known sequence with a restriction endonuclease and comparing the fragmentation pattern with a computer-generated set of patterns. The feasibility of this approach has ...

    journal_title:Nucleic acids research

    pub_type: 杂志文章

    doi:10.1093/nar/5.11.4105

    authors: Gingeras TR,MIlazzo JP,Roberts RJ

    更新日期:1978-11-01 00:00:00

  • Functional redundancy of the DE-1 and alpha A-CRYBP1 regulatory sites of the mouse alpha A-crystallin promoter.

    abstract::Previous studies have implicated the DE-1 (-111/-106) and alpha A-CRYBP1 (-66/-57) sites for activity of the mouse alpha A-crystallin promoter in transiently transfected lens cells. Here we have used the bacterial chloramphenicol acetyltransferase (CAT) reporter gene to test the functional importance of the putative D...

    journal_title:Nucleic acids research

    pub_type: 杂志文章

    doi:10.1093/nar/21.11.2633

    authors: Sax CM,Ilagan JG,Piatigorsky J

    更新日期:1993-06-11 00:00:00

  • The transposable element Mdg3 in Drosophila melanogaster is flanked with the perfect direct and mismatched inverted repeats.

    abstract::MDg3 is a family of mobile dispersed genetic elements represented by 15 copies in the haploid genome of D. melanogaster and flanked, like other similar elements, by the regions of homology. In the present work, these regions of mdg3 have been sequenced. The existence of perfect direct repeats 268 base pairs long has b...

    journal_title:Nucleic acids research

    pub_type: 杂志文章

    doi:10.1093/nar/8.15.3263

    authors: Bayev AA Jr,Krayev AS,Lyubomirskaya NV,Ilyin YV,Skryabin KG,Georgiev GP

    更新日期:1980-08-11 00:00:00

  • Developmentally regulated and erythroid-specific expression of the human embryonic beta-globin gene in transgenic mice.

    abstract::Transgenic mice have proven to be an effective expression system for studying developmental control of the human fetal and adult beta-globin genes. In the current work we are interested in developing the transgenic mouse system for the study of the human embryonic beta-globin gene, epsilon. An epsilon-globin gene cons...

    journal_title:Nucleic acids research

    pub_type: 杂志文章

    doi:10.1093/nar/18.18.5465

    authors: Shih DM,Wall RJ,Shapiro SG

    更新日期:1990-09-25 00:00:00

  • Ultraviolet light irradiation of PM2 superhelical DNA.

    abstract::Superhelical PM2 DNA can be photochemically modified by u.v. irradiation. The variation of S20,w with dose shows the following characteristics. There is a linear increase from 28 to 31s produced by a low dose of u.v. irradiation (4,000 ergs/mm2). A plateau in S20,w occurs between 4,000 and 10,000 ergs/mm2. The S20,w t...

    journal_title:Nucleic acids research

    pub_type: 杂志文章

    doi:10.1093/nar/4.5.1243

    authors: Woodworth-Gutai M,Lebowitz J,Kato AC,Denhardt DT

    更新日期:1977-01-01 00:00:00

  • An insulinoma nuclear factor binding to GGGCCC motifs in human insulin gene.

    abstract::Cell specific expression of the insulin gene is achieved through transcriptional mechanisms operating on 5' flanking DNA elements. In the enhancer of rat I insulin gene, two elements, the Nir and Far boxes, located at positions -104 and -233 respectively and containing the same octameric motif are essential for B cell...

    journal_title:Nucleic acids research

    pub_type: 杂志文章

    doi:10.1093/nar/21.7.1595

    authors: Reibel L,Besnard C,Lores P,Jami J,Gacon G

    更新日期:1993-04-11 00:00:00

  • Identification of proteins interacting with newly replicated DNA in SV40-infected cells by UV-induced DNA-protein cross-linking.

    abstract::Protein species interacting with newly replicated DNA were analyzed using a photo cross-linking technique. Nascent DNA was labeled in vitro with [alpha-32P]dCTP and BrdUTP in SV40-infected CV-1 cells made permeable with saponin. The labeled cells were then irradiated with UV light (254 nm) and were treated extensively...

    journal_title:Nucleic acids research

    pub_type: 杂志文章

    doi:10.1093/nar/11.14.4793

    authors: Tsutsui K,Watanabe S,Katagiri M,Oda T

    更新日期:1983-07-25 00:00:00

  • A chicken middle-repetitive DNA sequence which shares homology with mammalian ubiquitous repeats.

    abstract::We have identified and sequenced two members of a chicken middle repetitive DNA sequence family. By reassociation kinetics, members of this family (termed CRl) are estimated to be present in 1500-7000 copies per chicken haploid genome. The first family member sequenced (CRlUla) is located approximately 2 kb upstream f...

    journal_title:Nucleic acids research

    pub_type: 杂志文章

    doi:10.1093/nar/9.20.5383

    authors: Stumph WE,Kristo P,Tsai MJ,O'Malley BW

    更新日期:1981-10-24 00:00:00

  • Tissue-specific translational regulation of alternative rabbit 15-lipoxygenase mRNAs differing in their 3'-untranslated regions.

    abstract::By screening a rabbit reticulocyte library, an alternative 15-LOX transcript of 3.6 kb (15-LOX mRNA2) was detected containing a 1019 nt longer 3'-untranslated region (UTR2) than the main 2.6 kb mRNA (15-LOX mRNA1). In anaemic animals, northern blotting showed that 15-LOX mRNA2 was predominantly expressed in non-erythr...

    journal_title:Nucleic acids research

    pub_type: 杂志文章

    doi:10.1093/nar/27.8.1828

    authors: Thiele BJ,Berger M,Huth A,Reimann I,Schwarz K,Thiele H

    更新日期:1999-04-15 00:00:00

  • The histone 3'-terminal stem-loop is necessary for translation in Chinese hamster ovary cells.

    abstract::The metazoan cell cycle-regulated histone mRNAs are the only known cellular mRNAs that do not terminate in a poly(A) tall. Instead, mammalian histone mRNAs terminate in a highly conserved stem-loop structure which is required for 3'-end processing and regulates mRNA stability. The poly(A) tail not only regulates trans...

    journal_title:Nucleic acids research

    pub_type: 杂志文章

    doi:10.1093/nar/24.10.1954

    authors: Gallie DR,Lewis NJ,Marzluff WF

    更新日期:1996-05-15 00:00:00

  • Genetic robustness and functional evolution of gene duplicates.

    abstract::Gene duplications are a major source of evolutionary innovations. Understanding the functional divergence of duplicates and their role in genetic robustness is an important challenge in biology. Previously, analyses of genetic robustness were primarily focused on duplicates essentiality and epistasis in several labora...

    journal_title:Nucleic acids research

    pub_type: 杂志文章

    doi:10.1093/nar/gkt1200

    authors: Plata G,Vitkup D

    更新日期:2014-02-01 00:00:00

  • Structural constraints and enzymatic promiscuity in the Cas6-dependent generation of crRNAs.

    abstract::A hallmark of defense mechanisms based on clustered regularly interspaced short palindromic repeats (CRISPR) and associated sequences (Cas) are the crRNAs that guide these complexes in the destruction of invading DNA or RNA. Three separate CRISPR-Cas systems exist in the cyanobacterium Synechocystis sp. PCC 6803. Base...

    journal_title:Nucleic acids research

    pub_type: 杂志文章

    doi:10.1093/nar/gkw786

    authors: Reimann V,Alkhnbashi OS,Saunders SJ,Scholz I,Hein S,Backofen R,Hess WR

    更新日期:2017-01-25 00:00:00

  • Equilibrium melting of plasmid ColE1 DNA: electron-microscopic visualization.

    abstract::The fine structure of the melting curve for the linear colE1 DNA has been obtained. To find the ColE1 DNA regions corresponding to peaks in the melting curve's fine structure, we fixed the melted DNA regions with glyoxal /12/. Electron-microscopic denaturation maps were obtained for nine temperature points within the ...

    journal_title:Nucleic acids research

    pub_type: 杂志文章

    doi:10.1093/nar/8.18.4165

    authors: Borovik AS,Kalambet YA,Lyubchenko YL,Shitov VT,Golovanov EI

    更新日期:1980-09-25 00:00:00

  • A clustering property of highly-degenerate transcription factor binding sites in the mammalian genome.

    abstract::Transcription factor binding sites (TFBSs) are short DNA sequences interacting with transcription factors (TFs), which regulate gene expression. Due to the relatively short length of such binding sites, it is largely unclear how the specificity of protein-DNA interaction is achieved. Here, we have performed a genome-w...

    journal_title:Nucleic acids research

    pub_type: 杂志文章

    doi:10.1093/nar/gkl248

    authors: Zhang C,Xuan Z,Otto S,Hover JR,McCorkle SR,Mandel G,Zhang MQ

    更新日期:2006-05-02 00:00:00

  • Selective disruption of the DNA polymerase III α-β complex by the umuD gene products.

    abstract::DNA polymerase III (DNA pol III) efficiently replicates the Escherichia coli genome, but it cannot bypass DNA damage. Instead, translesion synthesis (TLS) DNA polymerases are employed to replicate past damaged DNA; however, the exchange of replicative for TLS polymerases is not understood. The umuD gene products, whic...

    journal_title:Nucleic acids research

    pub_type: 杂志文章

    doi:10.1093/nar/gks229

    authors: Silva MC,Nevin P,Ronayne EA,Beuning PJ

    更新日期:2012-07-01 00:00:00

  • Nascent RNA sequencing reveals mechanisms of gene regulation in the human malaria parasite Plasmodium falciparum.

    abstract::Gene expression in Plasmodium falciparum is tightly regulated to ensure successful propagation of the parasite throughout its complex life cycle. The earliest transcriptomics studies in P. falciparum suggested a cascade of transcriptional activity over the course of the 48-hour intraerythrocytic developmental cycle (I...

    journal_title:Nucleic acids research

    pub_type: 杂志文章

    doi:10.1093/nar/gkx464

    authors: Lu XM,Batugedara G,Lee M,Prudhomme J,Bunnik EM,Le Roch KG

    更新日期:2017-07-27 00:00:00

  • Alteration of the DNA double helix conformation upon incorporation of mispairs as revealed by energy computations and pathways of point mutations.

    abstract::To explain biochemical and genetic data on spontaneous nucleotide replacements in nucleic acid biosynthesis all the 8 mispairs in normal tautomeric forms have been considered. Possible B-conformations of DNA fragments containing each of such mispairs incorporated between Watson-Crick pairs have been found using comput...

    journal_title:Nucleic acids research

    pub_type: 杂志文章

    doi:10.1093/nar/13.1.141

    authors: Chuprina VP,Poltev VI

    更新日期:1985-01-11 00:00:00

  • Ribosomal RNA metabolism in cucumber leaf mesophyll protoplasts.

    abstract::Aspects of the metabolism of RNA have been studied in enzymatically isolated protoplasts from cotyledon and first leaf mesophyll tissue of two cultivars of cucumber. The first leaf mesophyll protoplasts incorporated (3H)-uridine into ribosomal RNA at a constant rate for up to 25 hr in a simple salts medium and for up ...

    journal_title:Nucleic acids research

    pub_type: 杂志文章

    doi:10.1093/nar/2.7.1111

    authors: Coutts RH,Barnett A,Wood KR

    更新日期:1975-07-01 00:00:00