Thus gene mice knockout. Medical search. Frequent questions

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)
While it is anticipated that assays should aim to characterize 100-250 genes, some phenotypes and assay formats may be more amenable to moderate scale screening against a subset (50-100) of the gene set. (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)
Imprinted genes are highly expressed in monoaminergic regions of the midbrain and their functions in this area are thought to have an impact on mammalian social behaviors. (bath.ac.uk)
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)
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)
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)

Transomic's all-in-one lentiviral vectors for gene knockout incorporate a gRNA plus Cas9, eliminating the need for transducing cell lines with multiple vectors. (scientist.com)
C ) Transcript structure, DNA target, guide RNA, and depiction of the deletion created by the CRISPR/Cas9 knockout of Gm13030 . (elifesciences.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)

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 de novo mutations in genes that create proteins are a well-established cause of developmental disorders, but to date many of the genes linked to these disorders remain unknown. (sciencedaily.com)
This gene encodes a member of a family of E3 small ubiquitin-related modifier (SUMO) ligases that mediates the attachment of a SUMO protein to proteins involved in nuclear transport, transcription, chromosome segregation and DNA repair. (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)
Like Rb protein, many of the proteins encoded by tumor suppressor genes act at specific points in the cell cycle. (medscape.com)
Compared with individual exposures, co-exposure aerosols produced greater acellular and cellular oxidants detected by electron paramagnetic resonance (EPR) spectroscopy, and in vivo immune-spin trapping (IST), as well as synergistically increased lavage neutrophils, lavage proteins and inflammation related gene/protein expression. (cdc.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 could identify 16 proteins which differed in knockout and wild type mice. (lu.se)

Expression of glomerular basement membrane (GBM) collagens is reduced in Lmx1b(-/-) mice, suggesting one basis for NPS nephropathy. (nih.gov)
Thus, LMX1B regulates the expression of multiple podocyte genes critical for podocyte differentiation and function. (nih.gov)
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)
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)
We research gene expression control during development and misregulated in diseases. (ncl.ac.uk)
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)
Particularly, viral infection triggers specific signaling programs within the infected cells that results in substantial changes in host gene expression. (cdc.gov)
However, there was no significant reduction in ODE-induced NOD2 gene expression when TNF-a was inhibited or absent. (cdc.gov)
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)
TP53 activates the expression of genes involved in apoptosis, cell cycle regulation (p21), and MDM2. (medscape.com)
In 362 overweight people, they observed gene-dosage effects that link SORLA expression to obesity and glucose tolerance. (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)
We identified a significant induction of epithelial alarmin (thymic stromal lymphopoietin-TSLP)-dependent interleukin-13 pathway after co-exposure, associated with increased mucin and interferon gene expression. (cdc.gov)

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)

miRBase: microRNA sequences, targets and gene nomenclature. (jax.org)

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)
Genomewide copy number screening using microarray-based comparative genomic hybridization (arrayCGH) revealed a microdeletion of 10q23.33q23.33, potentially implicating the cytochrome p450, subfamily XXVIA, polypeptide 1 ( CYP26A1 ) and cytochrome p450, subfamily XXVIC, polypeptide 1 ( CYP26C1 ) genes encoding retinoic acid (RA)-degrading enzymes as novel candidate genes for ONA. (molvis.org)

Research into the causes of developmental disorders has identified 285 genes linked to these conditions, including 28 newly-associated genes. (sciencedaily.com)
They estimate about 1,000 genes linked to developmental disorders remain to be discovered, requiring more open access to healthcare data. (sciencedaily.com)
Analysis of the data estimates that around 1,000 genes linked to developmental disorders remain to be discovered. (sciencedaily.com)
Ongoing initiatives, such as the Deciphering Developmental Disorders (DDD) study, have discovered associated genes by looking for patterns in the genomes of people with these disorders. (sciencedaily.com)
Dr Kaitlin Samocha, a first author of the study from the Wellcome Sanger Institute, said: "From previous studies we know that certain genes and types of mutation are more strongly linked to developmental disorders, which has allowed us to narrow our search. (sciencedaily.com)
Combined with a much larger dataset, this has enabled us to identify 28 novel genes associated with developmental disorders. (sciencedaily.com)
But our findings also estimate that we require ten times as much data to be able to identify all the genes linked to developmental disorders. (sciencedaily.com)
To maximize the potential disease relevance, genes with a genome-wide significant excess burden of loss-of-function mutations in NPDs such as intellectual disability/developmental delay, autism spectrum disorder, and schizophrenia are the focus. (nih.gov)
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)

A team led by researchers at IMPC member Institute UC Davis have used IMPC data to identify novel genes associated with oculocutaneous syndromes in gene targeted 'knockout' mice, in research that is potentially relevant to human conditions such as albinism and phakomatoses. (mousephenotype.org)

Researchers can insert new genes into these or knock out existing genes with great precision. (newscientist.com)

X-linked agammaglobulinemia (XLA) is an immunodeficiency caused by mutations in the gene coding for Bruton's tyrosine kinase (BTK) [Väliaho et al. (lu.se)
ZAP-70 deficiency is a rare autosomal recessive form of severe combined immunodeficiency (SCID) caused by mutations in the gene coding for T cell receptor z-chain associated protein kinase [ Chan et al. (lu.se)
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)
Limb-girdle muscular dystrophy type 2A is an autosomal recessive disorder generated by inactivating mutations in the gene coding for the muscle specific protease calpain-3. (lu.se)

At present, this is only possible with mice, using so-called embryonic stem cells. (newscientist.com)
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)

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)
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)
Mouse knock-out strains demonstrated that T2D-associated candidates regulate glucose homeostasis and body composition in vivo. (lu.se)

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)

While the long-term goal of the SSPsyGene Consortium is to build a comprehensively annotated resource describing the CNS function of all neurodevelopmental and psychiatric disorder risk genes, the current target for the initiative is 100-250 protein coding genes. (nih.gov)
The goal of this initiative is to fill a very specific knowledge gap area, which is that many protein-coding genes are now associated with NPD risk, but their basic neurobiology remains poorly understood. (nih.gov)
For example, this may mean the mouse starts to produce a new protein . (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)
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)
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)
[ 1 ] His prediction was subsequently supported by the cloning of the retinoblastoma tumor suppressor gene ( RB1 ) and by functional studies of the retinoblastoma protein, Rb. (medscape.com)
For example, the TP53 gene, located on chromosome 17, encodes a 53-kd nuclear protein that functions as a cell cycle checkpoint. (medscape.com)
The gene affected encodes a SH2D1A protein consisting only of a SH2 domain and a short C-terminal tail [Sayos et al. (lu.se)
Noonan syndrome (NS) is caused by mutations in PTPN11 , a gene encoding the nonreceptor protein tyrosine phosphatase SHP2. (lu.se)

Transcriptome analysis of mouse stem cells and early embryos. (nih.gov)
More importantly, biotechnologists will for the first time be able to manipulate the genes of cells from farm animals directly before growing them into embryos. (newscientist.com)
But scientists have not managed to isolate such cells from farm animals, and must rely instead on injecting genes randomly into early embryos. (newscientist.com)
To complement the in vivo system of chick embryos, we employ patient omics data, single cell RNA sequencing, human and mouse embryos, human cancer cell cultures, human pluripotent stem cells, chick embryo neural crest-derived in vitro crestosphere cultures, and zebrafish and mouse in vivo models. (lu.se)

J:103485 Lexicon Genetics Inc, NIH initiative supporting placement of Lexicon Genetics, Inc. mice into public repositories. (jax.org)
The mouse is closely related to humans with a striking similarity to us in terms of anatomy, physiology and genetics. (yourgenome.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)
Together with his student Clarence Little, Castle produced a series of important papers on the genetics of coat colour in mice. (yourgenome.org)

Question: Is the list of genes available? (nih.gov)
The outcome of such studies is usually a list of genes which have been seen to vary between the different conditions and therefore may be of interest to study further. (biomedcentral.com)

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)

The phenotype of the L1 mutant mouse indicates that it is a potentially valuable model for the human CRASH syndrome. (jneurosci.org)

Homozygous knockout mice exhibit impaired motor coordination. (nih.gov)

Transcriptional abundance and structural features of 119 candidate de novo genes in the mouse lineage. (elifesciences.org)
Most cells have intracellular sensors of viral products that, when activated, initiate a signaling cascade that results in transcriptional induction of the IFNβ gene. (cdc.gov)
Their mutagenic potential and gene regulatory effect have shaped the evolution of transcriptional networks involved in development, pluripotency, and inflammation. (lu.se)

This paper reports a novel Cntn5 knockout mouse line generated by a random transgene integration as an outcome of pronuclear microinjection. (animalcaresystems.com)

This gene encodes a member of the chromodomain/helicase/DNA-binding domain family of chromatin remodeling enzymes. (nih.gov)

The use of genetically engineered mouse models has yielded new mechanistic information that complements recent, important in vivo imaging studies. (nih.gov)

Despite their many visual differences, mice are genetically very similar to humans. (mousephenotype.org)

The resulting phenotypic data will be integrated across modalities, levels of organization, and genes to create a harmonized, integrated knowledge base needed to substantively advance our understanding of basic gene function and, ultimately, make robust inferences into potential shared and unique disease mechanisms. (nih.gov)
Due to compensatory genetic mechanisms, knockout status cannot be guaranteed and will have to be confirmed by the customer. (taconic.com)

Gene editing can knock out genes crucial to cervical tumor cells' survival, researchers report. (the-scientist.com)
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)

Con respecto a los modelos animales en TEA, muchos estudios se centran en la expresión génica, la migración y maduración neuronal cortical y los déficits de la red neuronal, pero muy pocos son los estudios que relacionen directamente la comunicación oral animal y la expresión génica en áreas corticales del lenguaje. (bvsalud.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)

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)

Our research includes the use of knockout mice and zebrafish as laboratory models. (ncl.ac.uk)

The gene for factor XI is located on chromosome 4. (medscape.com)

The first genetically modified animal was a mouse created in 1974 by Rudolf Jaenisch. (wikipedia.org)
In 1983 an antibiotic resistant gene was inserted into tobacco, leading to the first genetically engineered plant. (wikipedia.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)

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)
Development of new transgenic and gene knock-out mice models of human diseases. (ccmb.res.in)
2003]. The absence of STAT5B is associated with diminished post-natal growth, as demonstrated by mouse knockout models [Udy et al. (lu.se)

We found group-housed Grb10 +/p mice do not show evidence of enhanced social dominance, but cages containing Grb10 +/p and wild-type mice lacked the normal correlation between three different measures of social rank. (bath.ac.uk)
We have therefore decided to perform a comprehensive study of the substrates of the protease by comparing the 2D electrophoretic profile of myotubes from obtained from calpain-3 knockout and wild type mice. (lu.se)

This resulted in a set of 52 genes affecting both skin and the eyes, 35 out of these 52 genes are novel findings. (mousephenotype.org)
Our findings revealed a novel mechanism that Nr2f1 and Nr2f2 converge to govern the differentiation and integration of distinct characteristics of the hippocampus in mice. (elifesciences.org)
Some findings showed critical genes, which modulate several aspects of verbal communication. (bvsalud.org)

One such imprinted gene is Grb10, of which the paternal allele is generally recognized as mediating social dominance behavior. (bath.ac.uk)
Moreover, the original study examined tube-test behavior in isolated mice 10 months of age. (bath.ac.uk)
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)

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)
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)

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)
The IFNα/β genes include IFNβ and many closely related IFNα genes. (cdc.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)

Most of these genes can be markers of communication deficits. (bvsalud.org)

Although young PTG heterozygous mice initially demonstrate normal glucose tolerance, progressive glucose intolerance, hyperinsulinemia, and insulin resistance develop with aging. (jci.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)
Naturally occurring mutations in this gene, that abolish the SUMO ligase activity, are associated with primordial dwarfism and extreme insulin resistance. (nih.gov)
Mutations in the PIK3R1 gene encoding phosphatidylinositol 3-kinase (PI3-kinase) have been found to cause severe insulin resistance [Baynes et al. (lu.se)
STAT5B acts as a part of the growth hormone signalling pathway leading to stimulation of insulin-like growth factor I (IGF-I) gene transcription [Woelfle et al. (lu.se)

This is an important study demonstrating distinct roles for the nuclear receptor genes COUP-TFI and COUP-TFII in hippocampal development. (elifesciences.org)
Although carcinogenic roles for the INK4B, INK4C, INK4D, CIP1, KIP1, and KIP2 genes appear to be limited, INK4A is among the most commonly mutated genes in human tumors. (medscape.com)

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)

1997]. Mutations in the STAT1 gene cause complete STAT1 deficiency. (lu.se)

This can be a key starting point in discovering genes associated with human disease. (mousephenotype.org)
Huntington's disease (HD) is a progressive and fatal neurodegenerative disorder caused by an expanded CAG repeat in the huntingtin gene. (nature.com)

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)

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)

Around 60 per cent of children born with a disorder do not have a diagnosis and the authors estimate that around 50 per cent of these children will have a mutation in one of these unknown genes. (sciencedaily.com)
A minimum of four (4) mutant mice, heterozygous for the selected mutation on a mixed 129S5;B6 background. (taconic.com)
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)
Germline mutation of one TP53 allele is found in patients with Li-Fraumeni syndrome who generally inherit a mutated TP53 gene from an affected parent. (medscape.com)

We examined both male and female mice to account for sex differences and tested cohorts aged 2, 6 and 10 months to examine any developments related to age. (bath.ac.uk)

35) in the first exon of the huntingtin ( HTT , IT15 ) gene 1 . (nature.com)
Direct evidence linking the INK4A locus to tumorigenesis was provided by the targeted disruption of exon 2 of INK4A in mice. (medscape.com)

The Scalable and Systematic Neurobiology of Psychiatric and Neurodevelopmental Disorder Risk Genes (SSPsyGene) Consortium: Assay and Data Generation Centers (RM1) (RFA-MH-24-145). (nih.gov)
The SSPsyGene Consortium aims to produce a systematic annotation of basic neurobiological function of genes associated with risk for neurodevelopmental and psychiatric disorders (NPDs). (nih.gov)

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)

Fifty-six percent of identified metabolites were significantly different between the sexes in WT mice . (bvsalud.org)

The analysis of genetic variants in mice has provided profound insights into the function of human genes. (mousephenotype.org)
SSPsyGene is designed to provide a collaborative and efficient framework for identifying biological function beyond current small-scale and often ad hoc single gene efforts in order to generate a standardized, experimentally derived, functional catalog of NPD risk genes. (nih.gov)
This additional genetic material either results in a gain or loss of function of a certain gene. (yourgenome.org)

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)

Organisms2

Analytical, Diagnostic and Therapeutic Techniques and Equipment1

Phenomena and Processes1

Phenotypes10

Mammalian8

Cas92

CRISPR1

Proteins8

Expression27

Differentially expressed genes1

Nomenclature1

Candidate genes2

Developmental9

Novel genes associated1

Knock out exist1

Mutations in the gene4

Embryonic stem3

Strains4

Metabolism2

Protein13

Embryos4

Genetics4

List of ge2

Human Genome2

Phenotype1

Homozygous1

Transcriptional3

Microinjection1

Encodes1

Vivo1

Humans1

Mechanisms2

Researchers2

Neuronal1

Ontology4

Transgenic mice3

Zebrafish1

Chromosome1

Genetically3

Models5

Wild-type mice2

Findings3

Behavior3

Species2

Closely related2

Organism2

Markers1

Insulin5

Roles2

ENCODE2

19971

Disease2

Deletion2

Axon1

Manipulate1

Mutation4

Differences1

Exon2

Systematic2

Demonstrate1

Significantly1

Function3

Abnormal1