Sanger Mouse Genetics Project
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Sanger Mouse Genetics Project
The Mouse Genetics Project (MGP) is a large-scale mutant mouse production and phenotyping programme aimed at identifying new model organisms of disease. Based at the Wellcome Trust Sanger Institute, the project uses knockout mice most of which were generated by the International Knockout Mouse Consortium. For each mutant line, groups of seven male and seven female mice move through a standard analysis pipeline aimed at detecting traits that differ from healthy C57BL/6 mice. The pipeline collects many measurements of viability, fertility, body weight, infection, hearing, morphology, haematology, behaviour, blood chemistry and immunity and compares them to wild type Scientific control, controls using a statistical mixed model. These data are immediately shared among the scientific and medical research community through a bespoke open access database,Mous ...
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Mutant
In biology, and especially in genetics, a mutant is an organism or a new genetic character arising or resulting from an instance of mutation, which is generally an alteration of the DNA sequence of the genome or chromosome of an organism. It is a characteristic that would not be observed naturally in a specimen. The term mutant is also applied to a virus with an alteration in its nucleotide sequence whose genome is in the nuclear genome. The natural occurrence of genetic mutations is integral to the process of evolution. The study of mutants is an integral part of biology; by understanding the effect that a mutation in a gene has, it is possible to establish the normal function of that gene. Mutants arise by mutation Mutants arise by mutations occurring in pre-existing genomes as a result of errors of DNA replication or errors of DNA repair. Errors of replication often involve translesion synthesis by a DNA polymerase when it encounters and bypasses a damaged base in the temp ...
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Gene Wiki
The Gene Wiki is a project within Wikipedia that aims to describe the relationships and functions of all human genes. It was established to transfer information from scientific resources to Wikipedia stub articles. The Gene Wiki project also initiated publication of gene-specific review articles in the journal ''Gene'', together with the editing of the gene-specific pages in Wikipedia. Project goals and scope Number of gene articles The human genome contains an estimated 20,000–25,000 protein-coding genes. The goal of the Gene Wiki project is to create seed articles for every notable human gene, that is, every gene whose function has been assigned in the peer-reviewed scientific literature. Approximately half of human genes have assigned function, therefore the total number of articles seeded by the Gene Wiki project would be expected to be in the range of 10,000–15,000. To date, approximately 11,000 articles have been created or augmented to include Gene Wiki project conte ...
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Biological Databases
Biological databases are libraries of biological sciences, collected from scientific experiments, published literature, high-throughput experiment technology, and computational analysis. They contain information from research areas including genomics, proteomics, metabolomics, microarray gene expression, and phylogenetics. Information contained in biological databases includes gene function, structure, localization (both cellular and chromosomal), clinical effects of mutations as well as similarities of biological sequences and structures. Biological databases can be classified by the kind of data they collect (see below). Broadly, there are molecular databases (for sequences, molecules, etc.), functional databases (for physiology, enzyme activities, phenotypes, ecology etc), taxonomic databases (for species and other taxonomic ranks), images and other media, or specimens (for museum collections etc.) Databases are important tools in assisting scientists to analyze and explain ...
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SHIRPA
SHIRPA is a standardized set of experimental procedures used by scientists to characterize the phenotype of genetically modified Laboratory mouse, laboratory mice. The protocols are designed to test muscle function, cerebellar function, Sensory system, sensory function and neuropsychiatric function. Origin ''SHIRPA'' is an acronym of SmithKline Beecham, Harwell, Imperial College, Royal London Hospital, phenotype assessment), proposed in 1997 by a group of researchers from a number of British institutions and the pharmaceutical company, SmithKline Beecham. There are up to 40 tests in SHIRPA, across three Genetic screen, screens of increasing complexity and specialization. The first describes the behaviour of the mouse subject by observation. The second involves a more thorough behavioural assessment and includes pathological analysis. The third screening stage is focused on potential animal models of neurological disease. Testing of mutant mice The protocol has been used to test se ...
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International Mouse Phenotyping Consortium
The International Mouse Phenotyping Consortium (IMPC) is an international scientific endeavour to create and characterize the phenotype of 20,000 knockout mouse strains. Launched in September 2011, the consortium consists of over 15 research institutes across four continents with funding provided by the NIH, European national governments and the partner institutions. The initiative is projected to take 10 years (until 2021), and will focus on analysing homozygous mutant mice generated on an isogenic C57BL/6N background by the International Knockout Mouse Consortium. The mouse strains are characterized in a broad based phenotyping pipeline that is focused on revealing insights into human disease by measuring embryonic, neuromuscular, sensory, cardiovascular, metabolic, respiratory, haematological, and neurological parameters. The protocols used to assess these phenotypes have been standardized across the IMPC partners and are available at IMPReSS. Mouse strains generated by the IM ...
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Blood (journal)
''Blood'' is a peer-reviewed medical journal published by the American Society of Hematology. It was established by William Dameshek in 1946. The journal changed from semimonthly (24 times annually) to weekly publication at the start of 2009. It covers clinical and basic research in all areas of hematology, including disorders of leukocytes, both benign and malignant, erythrocytes, platelets, hemostatic mechanisms, vascular biology, immunology, and hematologic oncology. Abstracting and indexing ''Blood'' is indexed and abstracted by: According to the ''Journal Citation Reports'', the journal has a 2021 impact factor The impact factor (IF) or journal impact factor (JIF) of an academic journal is a scientometric index calculated by Clarivate that reflects the yearly mean number of citations of articles published in the last two years in a given journal, as i ... of 25.476, and has a Journal Impact Factor rank of 1/76 in the Hematology category. References External l ...
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Lymphocyte
A lymphocyte is a type of white blood cell (leukocyte) in the immune system of most vertebrates. Lymphocytes include natural killer cells (which function in cell-mediated, cytotoxic innate immunity), T cells (for cell-mediated, cytotoxic adaptive immunity), and B cells (for humoral, antibody-driven adaptive immunity). They are the main type of cell found in lymph, which prompted the name "lymphocyte". Lymphocytes make up between 18% and 42% of circulating white blood cells. Types The three major types of lymphocyte are T cells, B cells and natural killer (NK) cells. Lymphocytes can be identified by their large nucleus. T cells and B cells T cells (thymus cells) and B cells ( bone marrow- or bursa-derived cells) are the major cellular components of the adaptive immune response. T cells are involved in cell-mediated immunity, whereas B cells are primarily responsible for humoral immunity (relating to antibodies). The function of T cells and B cells is to recognize sp ...
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Hematopoiesis
Haematopoiesis (, from Greek , 'blood' and 'to make'; also hematopoiesis in American English; sometimes also h(a)emopoiesis) is the formation of blood cellular components. All cellular blood components are derived from haematopoietic stem cells. In a healthy adult person, approximately – new blood cells are produced daily in order to maintain steady state levels in the peripheral circulation.Semester 4 medical lectures at Uppsala University 2008 by Leif Jansson Process Haematopoietic stem cells (HSCs) Haematopoietic stem cells (HSCs) reside in the medulla of the bone (bone marrow) and have the unique ability to give rise to all of the different mature blood cell types and tissues. HSCs are self-renewing cells: when they differentiate, at least some of their daughter cells remain as HSCs so the pool of stem cells is not depleted. This phenomenon is called asymmetric division. The other daughters of HSCs ( myeloid and lymphoid progenitor cells) can follow any of the other ...
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SPNS2
Spinster homolog 2 (Drosophila) is a protein that in humans is encoded by the ''SPNS2'' gene. Model organisms Model organisms have been used in the study of SPNS2 function. A conditional knockout mouse line, called ''Spns2tm1a(KOMP)Wtsi'' was generated as part of the International Knockout Mouse Consortium program — a high-throughput mutagenesis project to generate and distribute animal models of disease to interested scientists. Animals underwent a standardized phenotypic screen to determine the effects of deletion. Twenty eight tests were carried out on homozygous mutant mice of both sex and nine significant abnormalities were observed, including an absence of pinna reflex, abnormal eye pigmentation and morphology including cataracts, decreased leukocyte cell number, abnormal brainstem auditory evoked potential, increased bone mineral content and a range of atypical peripheral blood lymphocyte parameters. Males additionally displayed decreased circulating glu ...
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Seckel Syndrome
Seckel syndrome, or microcephalic primordial dwarfism (also known as bird-headed dwarfism, Harper's syndrome, Virchow–Seckel dwarfism and bird-headed dwarf of Seckel) is an extremely rare congenital nanosomic disorder. Inheritance is autosomal recessive. It is characterized by intrauterine growth restriction and postnatal dwarfism with a small head, narrow bird-like face with a beak-like nose, large eyes with down-slanting palpebral fissures, receding mandible and intellectual disability. A mouse model has been developed. This mouse model is characterized by a severe deficiency of ATR protein. These mice have high levels of replicative stress and DNA damage. Adult Seckel mice display accelerated ageing. These findings are consistent with the DNA damage theory of aging. Symptoms and signs Symptoms include: * intellectual disability (more than half of the patients have an IQ below 50) * microcephaly * sometimes pancytopenia (low blood counts) * cryptorchidism in males * low birth ...
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CENPJ
Centromere protein J is a protein that in humans is encoded by the ''CENPJ'' gene. It is also known as centrosomal P4.1-associated protein (CPAP). During cell division, this protein plays a structural role in the maintenance of centrosome integrity and normal spindle morphology, and it is involved in microtubule disassembly at the centrosome. This protein can function as a transcriptional coactivator in the Stat5 signaling pathway and also as a coactivator of NF-kappaB-mediated transcription, likely via its interaction with the coactivator p300/CREB-binding protein. The ''Drosophila'' ortholog, sas-4, has been shown to be a scaffold for a cytoplasmic complex of Cnn, Asl, CP-190, tubulin and D-PLP (similar to the human proteins PCNT and AKAP9). These complexes are then anchored at the centriole to begin formation of the centrosome. Model organisms Model organisms have been used in the study of CENPJ function. A conditional knockout mouse line, called ''Cenpjtm1a(EUCOMM)Wtsi'' was ...
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