• CNV screening in clinical practice is limited because pathological CNVs cannot be distinguished routinely from benign CNVs, and because genes underlying patients' phenotypes remain largely unknown. (ed.ac.uk)
  • Here, we present a novel, statistically robust approach that forges links between 148 MR-associated CNVs and phenotypes from approximately 5,000 mouse gene knockout experiments. (ed.ac.uk)
  • Additional enrichments highlighted correspondences between relevant mouse phenotypes and secondary presentations such as brain abnormality, cleft palate, and seizures. (ed.ac.uk)
  • 30% increases) and allowed the identification of 78 genes that may contribute to MR and associated phenotypes. (ed.ac.uk)
  • Sexual Dimorphism of the Mouse Plasma Metabolome Is Associated with Phenotypes of 30 Gene Knockout Lines. (bvsalud.org)
  • The association of plasma metabolites with IMPC phenotypes showed dramatic sexual dimorphism in wildtype mice . (bvsalud.org)
  • Some gene knockouts produce infertile phenotypes with obviously missing, specific activities that affect acrosome biogenesis during spermatogenesis or interfere with acrosome function in mature sperm. (nih.gov)
  • The major strengths of the study are the dramatic morphogenic phenotypes, and the resultant altered gene networks. (elifesciences.org)
  • Better understanding of new mutations and the wide range of possible phenotypes led to the development of a new nomenclature proposal, based on the gene and inheritance pattern. (medscape.com)
  • Although metabolic alterations are observed in many monogenic and complex genetic disorders , the impact of most mammalian genes on cellular metabolism remains unknown. (bvsalud.org)
  • These ATG genes are highly conserved in mammalian cells, allowing to study their functions also in higher eukaryotes [ 1 - 4 ]. (hindawi.com)
  • Discovery of a gene in multiple mammalian species could pave the way for a highly effective, reversible and non-hormonal male contraceptive for humans and animals. (sciencedaily.com)
  • The study identifies this gene for the first time as being expressed only in testicular tissue, nowhere else in the body, and it's expressed by multiple mammalian species," said Jon Oatley, senior author and professor in WSU's School of Molecular Biosciences. (sciencedaily.com)
  • Because the gene is found across mammalian species, this knowledge also holds promise for use in animals, Oatley said. (sciencedaily.com)
  • Over time, the mouse has become the preferred organism for research into mammalian genetics because of its rapid generation time, small size and the ease with which it can be bred. (yourgenome.org)
  • To understand regulation of gene expression and to delineate the function of mammalian genes, we routinely create transgenic & gene knockout mice by performing DNA microinjection into mouse eggs, and genetic manipulation of mouse embryonic stem cells. (ccmb.res.in)
  • We investigated the effect of loss-of-function mutations in 30 unique gene knockout (KO) lines on plasma metabolites, including genes coding for structural proteins (11 of 30), metabolic pathway enzymes (12 of 30) and protein kinases (7 of 30). (bvsalud.org)
  • The genomic location, expression pattern, and ataxic phenotype of Chd6 Exon 12 -/- mice indicate that mutations within CHD6 may be responsible for ataxias. (nih.gov)
  • As a result, researchers have been able to develop thousands of mouse strains with mutations that mirror those seen in human genetic disease . (yourgenome.org)
  • [ 6 ] However, the gene mutations responsible for the different forms of CMT1 are clearly myelin genes. (medscape.com)
  • A newer classification is based on genotype: Type A patients have homozygous mutations in the gene SLC3A1 and type B patients have homozygous mutations in SLC7A9 . (msdmanuals.com)
  • Now, there are over 100 different inbred strains of mice, each with a different genetic background. (yourgenome.org)
  • A modern mouse facility houses transgenic mice and other experimental mouse strains needed for creation of transgenic and gene knock-out mice. (ccmb.res.in)
  • Homozygous knockout mice exhibit impaired motor coordination. (nih.gov)
  • This review focuses on recent findings using genetically modified mice (gene knockouts and transgenic 'green acrosome' mice) to study the effects of eliminating acrosomal matrix-associated proteins on sperm structure and function. (nih.gov)
  • These genes encode proteins that together form a heterodimer responsible for cystine and dibasic amino acid transport in the proximal tubule. (msdmanuals.com)
  • We hope that this effort will be helpful for understanding the studies performed so far, and for encouraging the inclusion of other candidate genes not explored to date. (frontiersin.org)
  • It allows users to obtain, visualize and prioritize molecular interaction networks using HD-relevant gene expression, phenotypic and other types of data obtained from human samples or model organisms. (nature.com)
  • In order to identify genes that may modify disease onset and progression, genome-wide association and gene expression studies have been performed 12 , 13 . (nature.com)
  • We found a significantly lower expression of key autophagy- (ATG-) related genes in primary AML as compared to healthy granulocytes, an increased autophagic activity during all- trans retinoic acid- (ATRA-) induced neutrophil differentiation, and an impaired AML differentiation upon inhibition of ATG3, ATG4D, and ATG5. (hindawi.com)
  • Low PU.1 expression in AML may account for low ATG gene expression in this disease. (hindawi.com)
  • GXD's primary emphasis is on endogenous gene expression during development. (jax.org)
  • In addition, we discuss reports on the interactions of OXT and AVP receptor genes and genes involved in other pathways (such as those of dopamine, serotonin, and reelin), as well as research that has shed some light on the impact of gene polymorphisms on the volume, connectivity, and activation of specific neural structures, differential receptor expression, and plasma levels of the OXT and AVP peptides. (frontiersin.org)
  • Physical attributes like hair color and skin tone can be traced to the expression of certain genes in our DNA. (loe.org)
  • In recent years there has been an explosion in the number of studies measuring gene expression under various different experimental conditions. (biomedcentral.com)
  • The dorsal hippocampus, which connects and shares similar gene expression with the neocortex ( Fanselow and Dong, 2010 ), serves the 'cold' cognitive function associated with declarative memory and spatial navigation. (elifesciences.org)
  • The mouse genetics laboratory includes well-furnished infrastructure for culture of embryonic stem cells, cryopreservation of embryos, micro-manipulation of embryos, animal surgery, construction of transgenes & gene knock-out vectors, identification of transgenic & knock-out mice, and analysis of gene expression. (ccmb.res.in)
  • B ) Comparison of overall expression levels (represented as the highest FPKM values in the 35 tissues) between de novo and all other protein-coding genes ('De novo' and 'Other' on the x-axis). (elifesciences.org)
  • General information of Gm13030 , expression, and knockout strategy. (elifesciences.org)
  • In this investigation, we considered the effect of PrP gene knock-out (PrP0/0) on cerebellar neural circuits and in particular on granule cells, which show intense PrP expression during development and selective affinity for PrP. (amrita.edu)
  • At the third postnatal week, when PrP expression would normally attain mature levels, PrP0/0 mice showed low performance in the accelerating rotarod and runway tests and the functioning of 40% of granule cells was abnormal. (amrita.edu)
  • This is not surprising given the strong evidence for interaction between myelin and axon gene expression in development and after experimental nerve lesions. (medscape.com)
  • ENU during the final week of gestat the rapidly changing patterns of gene In both the fetus and the pregnant ion is approximately 50 times that of expression in fetal target tissues, female rat, the target organ for single the mother. (who.int)
  • Regarding animal models in ASD, many studies focus on gene expression, cortical neuronal migration and cell maturation, and neural network deficits. (bvsalud.org)
  • However, very few studies directly link animal oral communication and gene expression in cortical areas of language. (bvsalud.org)
  • Despite their many visual differences, mice are genetically very similar to humans. (mousephenotype.org)
  • The mouse is closely related to humans with a striking similarity to us in terms of anatomy, physiology and genetics. (yourgenome.org)
  • Gene Ontology (GO) terms are often used to assess the results of microarray experiments. (biomedcentral.com)
  • Grouping Gene Ontology terms improves the interpretation of gene set enrichment for microarray data. (biomedcentral.com)
  • One of the most used in the Gene Ontology (GO) database [ 1 ]. (biomedcentral.com)
  • The Gene Ontology is a database of standardised biological terms used to annotate gene products. (biomedcentral.com)
  • The phenotype of the L1 mutant mouse indicates that it is a potentially valuable model for the human CRASH syndrome. (jneurosci.org)
  • C ) Transcript structure, DNA target, guide RNA, and depiction of the deletion created by the CRISPR/Cas9 knockout of Gm13030 . (elifesciences.org)
  • Transgenic mice are mice that contain additional, artificially introduced genetic material in every cell. (yourgenome.org)
  • In the early 1980s 'transgenic mice' became a valuable tool in research. (yourgenome.org)
  • Transgenic mice are extremely useful for scientists studying gene function. (yourgenome.org)
  • Some findings showed critical genes, which modulate several aspects of verbal communication. (bvsalud.org)
  • Genome-edited mice were also obtained using frozen-warmed pronuclear embryos with clustered regularly interspaced short palindromic repeat (CRISPR)/CRISPR-associated system (Cas) nucleases introduced using the technique for animal knockout system by electroporation (TAKE) method, which were transferred to females with pseudopregnancy induced on the day of embryo transfer. (nature.com)
  • Understanding the effect of mouse gene dysfunction on metabolism can inform the functions of their human orthologues. (bvsalud.org)
  • Despite enhanced lipid and cholesterol biosynthesis, Insig1 KO mice had similar systemic metabolism and insulin sensitivity to Het/WT littermates. (nih.gov)
  • The first artificial genetic modification accomplished using biotechnology was transgenesis, the process of transferring genes from one organism to another, first accomplished by Herbert Boyer and Stanley Cohen in 1973. (wikipedia.org)
  • This makes the mouse an extremely useful model organism. (yourgenome.org)
  • The genetic basis of this condition remains largely unknown, as no developmental genes other than paired box gene 6 ( PAX6 ) are known to be implicated in sporadic bilateral ONA. (molvis.org)
  • Description: RNA profiling data sets generated by the Mouse ENCODE project. (nih.gov)
  • Excel file with five tabs, providing (i) the legends for the tissue sources, (ii) the table for the gene lists, (iii) the information for the reassembled transcripts, (iv) the proteomic evidence shown in detail, and (v) the accession numbers for the ENCODE data. (elifesciences.org)
  • We generated mice that possess a heterozygous deletion of the PTG gene. (jci.org)
  • The deletion of both Nr2f genes causes almost agenesis of the hippocampus with abnormalities of trisynaptic circuit and adult neurogenesis. (elifesciences.org)
  • These CNVs were found to be significantly enriched in two classes of genes, those whose mouse orthologues, when disrupted, result in either abnormal axon or dopaminergic neuron morphologies. (ed.ac.uk)
  • Transcriptome analysis of mouse stem cells and early embryos. (nih.gov)
  • While other molecular targets have been identified for potential male contraceptive development, the Arrdc5 gene is specific to the male testes and found in multiple species. (sciencedaily.com)
  • The team analyzed available biological data on DNA and protein sequences in mammals and found the gene in almost every known mammal species. (sciencedaily.com)
  • Alignment of the ORF of Gm13030 among the mouse populations, subspecies and related species where the sequence could be identified in the respective genomic region. (elifesciences.org)
  • This study is the first to demonstrate how the power of mouse knockout data can be systematically exploited to better understand genetically heterogeneous neurological disorders. (ed.ac.uk)
  • Although young PTG heterozygous mice initially demonstrate normal glucose tolerance, progressive glucose intolerance, hyperinsulinemia, and insulin resistance develop with aging. (jci.org)
  • The strength of evidence is compelling , using rigorous state-of-the-art methods to demonstrate functional redundancy of these genes in regulating the Lhx2/Lhx5 axis. (elifesciences.org)
  • In 1902, French biologist Lucien Cuénot was the first to demonstrate Mendel's theories of inheritance by highlighting the genetics of coat colour characteristics in mice. (yourgenome.org)
  • Insulin resistance in older PTG heterozygous mice correlates with a significant increase in muscle triglyceride content, with a corresponding attenuation of insulin receptor signaling. (jci.org)
  • A minimum of four (4) mutant mice, heterozygous for the selected mutation on a mixed 129S5;B6 background. (taconic.com)
  • miRBase: microRNA sequences, targets and gene nomenclature. (jax.org)
  • Moreover, genome instability was attributed to impaired autophagy and several autophagy genes with tumor suppressor functions (e.g. (hindawi.com)
  • The IMPC is systematically 'knocking out' or removing every gene in the mouse genome, (around 20,000 genes) one at a time, and examining the effects that this has on the mouse's biological systems. (mousephenotype.org)
  • Retroviral insertion disrupted the gene between coding exons 1 and 2. (jax.org)
  • The present study explores the possible involvement of a purinergic mechanism in mechanosensory transduction in the bladder using P2X 3 receptor knock-out (P2X 3 − /− ) and wild-type control (P2X 3 +/+ ) mice. (jneurosci.org)
  • P2X 3 -positive staining was completely absent in the subepithelial plexus of the P2X 3 − /− mice, whereas staining for calcitonin gene-related peptide and vanilloid receptor 1 receptors remained. (jneurosci.org)
  • This is an important study demonstrating distinct roles for the nuclear receptor genes COUP-TFI and COUP-TFII in hippocampal development. (elifesciences.org)
  • A second method involves introducing the transgenic DNA into embryonic stem cells (ES cells) derived from a mouse embryo at the very early stages of development. (yourgenome.org)
  • The embryonic stem cells need a host embryo in which to develop and this is isolated usually from a mouse with different colour fur. (yourgenome.org)
  • The study indicates that the protein encoded by this gene is required for normal sperm production. (sciencedaily.com)
  • Oatley and study first author Mariana Giassetti have filed a provisional patent for the development of a male contraceptive based on this gene and the protein it encodes. (sciencedaily.com)
  • For example, this may mean the mouse starts to produce a new protein . (yourgenome.org)
  • C ) Comparison of averages of intrinsic structural disorder scores between de novo and all other protein-coding genes. (elifesciences.org)
  • D ) Comparison of fractions of sequence covered by hydrophobic clusters between de novo and all other protein-coding genes. (elifesciences.org)
  • The fact that mice lacking the protein have no obvious health problems is encouraging, suggesting that Abcc10 inhibitors could be used in human patients without causing side effects that might be expected to result from interfering with the pump's normal functions. (news-medical.net)
  • Transcriptional abundance and structural features of 119 candidate de novo genes in the mouse lineage. (elifesciences.org)
  • Due to compensatory genetic mechanisms, knockout status cannot be guaranteed and will have to be confirmed by the customer. (taconic.com)
  • Fifty-six percent of identified metabolites were significantly different between the sexes in WT mice . (bvsalud.org)
  • Our method finds groups of GO terms significantly over-represented amongst differentially expressed genes which are not found by Fisher's tests on individual GO terms. (biomedcentral.com)
  • The research team at UC Davis led by Ala Moshiri, as well as international colleagues, used the IMPC database to search for genes that caused skin, hair or pigmentation (cutaneous) defects, identifying 307 in total with 226 being previously unknown associations. (mousephenotype.org)
  • The 307 genes affecting skin, hair or pigmentation were then searched in the IMPC database for co-existing eye (ocular) abnormalities. (mousephenotype.org)
  • Enlarged ventricles and septal abnormalities were also features of the mutant mouse brain. (jneurosci.org)
  • J:103485 Lexicon Genetics Inc, NIH initiative supporting placement of Lexicon Genetics, Inc. mice into public repositories. (jax.org)
  • Together with his student Clarence Little, Castle produced a series of important papers on the genetics of coat colour in mice. (yourgenome.org)
  • Development of new transgenic and gene knock-out mice models of human diseases. (ccmb.res.in)
  • A paired box gene 6 ( PAX6 ) missense mutation, p.T391A, has been described in a patient with bilateral ONA, nystagmus, and normal anterior eye segments. (molvis.org)
  • The use of genetically engineered mouse models has yielded new mechanistic information that complements recent, important in vivo imaging studies. (nih.gov)
  • The knockout models are designed to be null alleles. (taconic.com)
  • Procurement and maintenance of transgenic and knock-out mouse models of human diseases where such animals are available elsewhere without restriction and provide facility and expertise to use the same in drug screening. (ccmb.res.in)
  • Breeding of currently available transgenic and knock-out mouse models. (ccmb.res.in)
  • For most lines, the mouse ES cells used in generating the model are of the 129S5 strain. (taconic.com)
  • Their mutagenic potential and gene regulatory effect have shaped the evolution of transcriptional networks involved in development, pluripotency, and inflammation. (lu.se)
  • The researchers isolated cells from the knockout mice and tested the cells' reactions to taxanes and two other anticancer drugs, vincristine and Ara-C. Compared to cells from normal mice that still possessed the gene for Abcc10, the knockout mouse cells were much more sensitive to the drugs. (news-medical.net)
  • All nucleotide sequences are aligned to the mm10 mouse reference, and amino acids are translated according to the reference frame (note that this implies that the frameshifts in the individual sequences are not shown). (elifesciences.org)
  • Advances followed that allowed scientists to manipulate and add genes to a variety of different organisms and induce a range of different effects. (wikipedia.org)
  • This study examined the application of sonic vibration to induce pseudopregnancy in mice. (nature.com)
  • In 1983 an antibiotic resistant gene was inserted into tobacco, leading to the first genetically engineered plant. (wikipedia.org)
  • The analysis of genetic variants in mice has provided profound insights into the function of human genes. (mousephenotype.org)
  • This additional genetic material either results in a gain or loss of function of a certain gene. (yourgenome.org)
  • The gene for factor XI is located on chromosome 4. (medscape.com)
  • When they knocked out the gene in mice, it created infertility only in the males, impacting their sperm count, movement and shape. (sciencedaily.com)
  • When this gene is inactivated or inhibited in males, they make sperm that cannot fertilize an egg, and that's a prime target for male contraceptive development. (sciencedaily.com)
  • In the WSU study, the male mice lacking this gene produced 28% less sperm that moved 2.8 times slower than in normal mice - and about 98% of their sperm had abnormal heads and mid-pieces. (sciencedaily.com)
  • As expected, knockout mice treated with paclitaxel had smaller spleens and thymus glands and underdeveloped bone marrow, compared to normal mice treated with the same drug. (news-medical.net)
  • Clarence Little, whose father had bred dogs, is probably best known for his development of the inbred 'lab' mouse, which he produced by mating generation after generation of mouse siblings. (yourgenome.org)
  • Development of transgenic and gene knock-out technologies. (ccmb.res.in)
  • Since all genes annotated to a given GO node are also annotated to all its parents, closely related nodes may be found separately significant. (biomedcentral.com)
  • This gene encodes a member of the chromodomain/helicase/DNA-binding domain family of chromatin remodeling enzymes. (nih.gov)
  • Sex must be considered as critical factor in the biological interpretation of gene functions. (bvsalud.org)
  • In mice and rats, females require mating stimulation for the maintenance of pregnancy. (nature.com)
  • The production of female mice with pseudopregnancy induced using sonic vibration was as efficient as rats. (nature.com)
  • This can be a key starting point in discovering genes associated with human disease. (mousephenotype.org)
  • CHD6, a cellular repressor of influenza virus replication, is degraded in human alveolar epithelial cells and mice lungs during infection. (nih.gov)
  • When compared with the human genome it was found that the two genomes were of similar size and almost every gene in the human genome has a counterpart in the mouse. (yourgenome.org)
  • Almost every gene in the human genome has a counterpart in the mouse. (yourgenome.org)
  • Clarence Little observed that many mouse tumours acted in the same way as human ones. (yourgenome.org)
  • During his work, Clarence also carried out investigations into cancer and observed that many mouse tumours acted in the same way as human ones. (yourgenome.org)
  • In the motor, somatosensory, and visual cortex, many pyramidal neurons in layer V exhibited undulating apical dendrites that did not reach layer I. The hippocampus of L1 mutant mice was smaller than normal, with fewer pyramidal and granule cells. (jneurosci.org)
  • Annotation of a gene to any given node A implies automatic annotation to all ancestors of A (the set of broader terms related to A by directed paths). (biomedcentral.com)
  • Most of these genes can be markers of communication deficits. (bvsalud.org)
  • The object of our study aimed to review and to correlate genes involved in ASD and those related to ultrasonic communication in animal model studies of language-based social behavior at the PubMed database. (bvsalud.org)
  • This allows scientists to investigate what specific genes do in the body. (yourgenome.org)
  • Here, we show that Nr2f1 and Nr2f2 genes are distinctively expressed in the dorsal and ventral hippocampus, respectively. (elifesciences.org)