Cystic fibrosis gene mice inbred cftr. Medical search. Frequent questions

C57BL/6 mouse splenocytes were stained with CD45R (B220) Monoclonal Antibody, FITC (Product # 11-0452-82) and 0.25 µg of Rat IgG2b kappa Isotype Control, Super Bright 600 (Product # 63-4031-82) (left) or 0.25 µg of CD3 Monoclonal Antibody, Super Bright 600 (right). (thermofisher.com)

This mutation, which at first glance appeared to be harmful, conferred enough of an advantage to heterozygotes to make it beneficial, so that it remained at dynamic equilibrium in the gene pool. (wikipedia.org)
Huntington's Disease is a hereditary condition that is caused by a mutation in a person's genes. (proprofs.com)
It is a genetic disorder that results from a mutation in the hemoglobin gene, causing red blood cells to become sickle-shaped. (proprofs.com)

The characterization of the first anti-mouse Muc6 antibody shows an increased expression of the mucin in pancreatic tissue of Cftr-knockout mice. (ox.ac.uk)
In order to further study Muc6 in mice, our aims were to obtain a specific Muc6 antibody, to validate it and to test it in Cftr deficient mice. (ox.ac.uk)
The rabbit anti-mouse Muc6 polyclonal antibody seems highly specific to the mouse mucin and will be useful to study pancreatic pathology in cystic fibrosis. (ox.ac.uk)
Description: The 17A2 monoclonal antibody reacts with the mouse CD3 complex. (thermofisher.com)
Applications Tested: This 17A2 antibody has been tested by flow cytometric analysis of mouse splenocytes. (thermofisher.com)
Large antibody titers correlate with low colony forming devices (CFUs) of UPEC following transurethral challenge of vaccinated mice. (morainetownshipdems.org)

Here, the great strengths are derived from the very refined use of inbred and genetically manipulated mice under controlled conditions that negate environmental variation. (clinical-research-informatics.com)

Animal models (e.g., mice, rats, zebrafish and others) are sufficiently like humans in their anatomy, physiology or response to a pathogen that researchers can extrapolate the results of animal model studies to better understand human physiology and disease. (genome.gov)

If weakness were the only effect of the mutant allele, so it conveyed only disadvantages, natural selection would weed out this version of the gene until it became extinct from the population. (wikipedia.org)
To block apoptosis, we conditionally deleted one allele of p53 in Ncadk.i. mice and observed a temporal rescue of alveolar morphology and function. (biomedcentral.com)
The CF allele cannot produce CFTR! (proprofs.com)
The CF allele overproduces CFTR! (proprofs.com)
Only individuals who inherit two copies of the CF allele from both parents will have cystic fibrosis. (proprofs.com)

Cftr-/- mice showed a higher expression of Muc6 at both protein and RNA levels compared with their control Cftr+/+ littermates suggesting that as in the human disease, Muc6 may contribute to the formation of materials that block pancreatic acini and ducts in mouse models of cystic fibrosis. (ox.ac.uk)
In these mice, N-cad was efficiently expressed in the E-cad expression domains. (biomedcentral.com)
Food-associated estrogenic compounds induce estrogen receptor-mediated luciferase gene expression in transgenic male mice. (knaw.nl)
gene expression profiles with analytical tools derived from ecology and systems biology to reverse engineer interaction networks between immune responses, other organismal characteristics and the environment (including symbiont exposures), revealing regulatory architecture. (clinical-research-informatics.com)
sequencing and analysis of nucleic acids are revolutionizing the measurement of gene expression in nonmodel organisms, with promising applications in the study of the immune system 1. (clinical-research-informatics.com)

On the other hand, gene knockdown experiments demonstrated that the function of O. dancena FXYD12 allowed maintenance of a high level of NKA activity. (ijbs.com)

Each of these themes will be considered in turn and then the reasons why nonmodel rodents (species excluding M.?domesticusand studies in natural populations tracking the effects of environmental variables using manipulative experimental or observational approaches (see for example, the solid wood mouse case study below), or through transplantation of naturally occurring lineages to (and monitoring of the changes occurring in) experimentally manipulated anthropogenic environments. (clinical-research-informatics.com)

Since loss-of-function mutations tend to be recessive (given that dominant mutations of this type generally prevent the organism from reproducing and thereby passing the gene on to the next generation), the result of any cross between the two populations will be fitter than the parent. (wikipedia.org)
Dominant" means that a single copy of the mutated gene (from one parent) is enough to cause the disorder. (genome.gov)
By contrast, an autosomal dominant disorder requires only a single copy of the mutated gene from one parent to cause the disorder. (genome.gov)

Themis, M. (2012) ' Monitoring for potential adverse effects of prenatal gene therapy: Genotoxicity analysis in vitro and on small animal models ex vivo and in vivo '.Methods in Molecular Biology, 891. (testavec.com)

This is in contrast to the other options listed - Cystic Fibrosis, Sickle Cell Disease, and Colorblindness - which can all be present from birth or develop early in life. (proprofs.com)
HKPP is a genetic disease and causal variants have been found in three different ion channel genes. (blogspot.com)
Additionally, it will consider how immunological measurement, interpreted in the light of paradigms from laboratory mouse immunology, can define individual variation relevant to ecological and epidemiological studies of infectious disease in the natural environment LY2090314 1, 6. (clinical-research-informatics.com)

We recently addressed the question of interchangeability of the two cadherins by generating a mouse model in which N-cad cDNA was introduced into the E-cad locus. (biomedcentral.com)
Autosomal" means that the gene in question is located on one of the numbered, or non-sex, chromosomes. (genome.gov)

By contrast, an autosomal recessive disorder requires two copies of the mutated gene (one from each parent) to cause the disorder. (genome.gov)
Recessive" means that two copies of the mutated gene (one from each parent) are required to cause the disorder. (genome.gov)

Our results demonstrate a possible role for N-cad in the formation of fibrosis and cysts in the mammary gland. (biomedcentral.com)

Five orthologous gel-forming mucins have been cloned in human and mouse. (ox.ac.uk)
Human Gene Therapy, 17 (7). (testavec.com)
Of the 5379 expected proteins in prototype UPEC strain CFT073, only six proteins met all of our founded criteria: (1) surface exposure (expected and shown), (2) induction during growth in human being urine, (3) high manifestation in experimentally infected mice Minocycline hydrochloride and (4) high manifestation in ladies with UTI, (5) immunogenicity, and (6) pathogen-specificity. (morainetownshipdems.org)

Major genes almost always have multiple effects (pleiotropism), which can simultaneously convey separate advantageous traits and disadvantageous traits upon the same organism. (wikipedia.org)

In combination with a conditional gene inactivation approach, we expressed N-cad in the absence of E-cad (referred to as Ncadk.i.) in alveolar epithelial cells of the mammary gland starting in late pregnancy. (biomedcentral.com)

A well-established case of heterozygote advantage is that of the gene involved in sickle cell anaemia. (wikipedia.org)

The first epithelial cell layer in the development of mouse embryos, the trophectoderm of blastocysts, requires E-cad for proper function. (biomedcentral.com)

Gene therapy is being investigated in the treatment of lung-related aspects of the genetic disease, Cystic fibrosis (CF). Clinical studies have demonstrated CF transmembrane conductance regulator (CFTR) expression in the airways of adults with CF using a variety of gene transfer agents. (ox.ac.uk)
This led to the temporal misexpression of several epithelial genes [Cftr (Cystic fibrosis transmembrane conductance regulator), Aqp5 (aquaporin 5), Aqp8 (aquaporin 8) and Cldn7 (claudin 7)] that mediate luminal fluid secretion and luminal opening. (nih.gov)
Up to 50% adult patients with cystic fibrosis (CF), a disease caused by mutations in the gene encoding the CF transmembrane conductance regulator (CFTR), develop CF-related diabetes (CFRD) with most patients exhibiting insulin insufficiency. (nih.gov)
These mice are generated from embryonic stem cells in which the CFTR (cystic fibrosis transmembrane conductance regulator) gene is inactivated by gene targeting. (nih.gov)
It is caused by mutations in the gene encoding the CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR expressed in several organs including the LUNG , the PANCREAS , the BILIARY SYSTEM , and the SWEAT GLANDS . (bvsalud.org)

Uterine kisspeptin receptor critically regulates epithelial estrogen receptor α transcriptional activity at the time of embryo implantation in a mouse model. (nih.gov)
Strikingly, in the uterus of Kiss1r KO mice on day 4 (D4) of pregnancy, the day of embryo implantation, KO females exhibited aberrantly elevated epithelial ERα (estrogen receptor α) transcriptional activity. (nih.gov)

Previously published studies have suggested that transient expression of CFTR in utero was sufficient to rescue the fatal intestinal defect in S489X Cftr(tm1Unc)/Cftr(tm1Unc) knockout mice. (ox.ac.uk)
In a CF mouse model, a modifier gene was detected on mouse chromosome 7 that contributed to fatal intestinal disease. (nih.gov)
In humans, there is strong evidence for a modifying locus linked to 19q13, syntenic to a region of mouse chromosome 7 which contains a modifier contributing to fatal intestinal disease. (nih.gov)

Adenovirus-mediated in utero expression of CFTR does not improve survival of CFTR knockout mice. (ox.ac.uk)

Lubiprostone decreases mouse colonic inner mucus layer thickness and alters intestinal microbiota. (uchicago.edu)

RESEARCH OBJECTIVES Background On September 9 and 10, 2002, NIDDK sponsored a meeting entitled, "Genetic Modifiers of Mendelian Diseases" highlighting progress toward the identification of modifier genes in diseases of interest to NIDDK. (nih.gov)
It appears most likely that other genetic factors are involved in modifying the expression of the gene, although some environmental factors may play a role. (nih.gov)
Cystic Fibrosis is one of the most common, life-limiting genetic diseases in children. (nih.gov)

Mice homozygous for the disrupted gene exhibit many features common to young cystic fibrosis patients, including failure to thrive, meconium ileus, and alteration of mucous and serous glands. (nih.gov)
Most patients with the disease have been shown to have mutations in the HFE gene with the predominant mutation being a missense mutation, C282Y. (nih.gov)
Patients with cystic fibrosis (CF) have altered fecal microbiomes compared to those of healthy controls. (nih.gov)

The identification of this modifier gene could lead to better understanding of the factors underlying the clinical heterogeneity in CF. Autosomal dominant polycystic kidney disease (ADPKD) is one of the most common Mendelian diseases in humans and a major cause of renal failure. (nih.gov)
We are establishing proof-of-principle for human or mouse organoid transplantation, ultimately to effect phenotypic correction of diseases. (stanford.edu)

Animal models (e.g., mice, rats, zebrafish and others) are sufficiently like humans in their anatomy, physiology or response to a pathogen that researchers can extrapolate the results of animal model studies to better understand human physiology and disease. (genome.gov)

We demonstrate that glucose elicited whole-cell currents, membrane depolarization, electrical bursts or action potentials, Ca(2+) oscillations and insulin secretion are abolished or reduced by inhibitors or knockdown of CFTR in primary mouse β-cells or RINm5F β-cell line, or significantly attenuated in CFTR mutant (DF508) mice compared with wild-type mice. (nih.gov)
Though these and even unedited hPSCs readily formed teratomas in cord blood-humanized immunodeficient mice, grafts were rapidly rejected by immunocompetent wild-type mice. (bvsalud.org)
Transplantation of these cells that also expressed covalent single chain trimers of Qa1 and H2-K b to inhibit natural killer cells and CD55, Crry, and CD59 to inhibit complement deposition led to persistent teratomas in wild-type mice. (bvsalud.org)

Even though a mutation in a single gene may play a predominant role in the development of a Mendelian disorder, individuals with identical genotypes at that locus may display considerable variation in the prevalence, severity, and clinical symptoms of the disorder. (nih.gov)
The obvious candidate genes are those encoding proteins known to be important in iron transport, but it is not known to what degree variations in the iron transport genes contribute to the clinical presentation of hemochromatosis and other iron disorders. (nih.gov)
He headed the clinical MIT team that first mapped and sequenced the Y chromosome in infertile men and discovered the now famous DAZ gene for male fertility. (infertile.com)

Since loss-of-function mutations tend to be recessive (given that dominant mutations of this type generally prevent the organism from reproducing and thereby passing the gene on to the next generation), the result of any cross between the two populations will be fitter than the parent. (wikipedia.org)

This study investigated the role of the uterine kisspeptin receptor (KISS1R) in the molecular regulation of implantation in a mouse model. (nih.gov)

A well-established case of heterozygote advantage is that of the gene involved in sickle cell anaemia. (wikipedia.org)

The predominant mutation, deltaF508, results in the deletion of a single amino acid in the CFTR protein. (nih.gov)
A protein consists of one or more chains of amino acids (called polypeptides) whose sequence is encoded in a gene. (genome.gov)

If weakness were the only effect of the mutant allele, so it conveyed only disadvantages, natural selection would weed out this version of the gene until it became extinct from the population. (wikipedia.org)

Transplantation of HLA-deficient hPSCs into mice genetically deficient in complement and depleted of natural killer cells also led to persistent teratomas. (bvsalud.org)

In CF, in utero gene transfer could potentially delay the onset of disease symptoms in childhood and compensate for the role, if any, that CFTR plays in the developing organs. (ox.ac.uk)
Although each step of the procedure was carefully controlled and vector-specific CFTR expression was confirmed in the fetal organs after treatment, there was statistically no significant improvement in the survival of mice treated in utero with AdCFTR, compared with contemporaneous control animals. (ox.ac.uk)

To define these barriers and to create cells capable of evading rejection for preclinical testing in immunocompetent mouse models, we genetically ablated ß2m , Tap1 , Ciita , Cd74 , Mica , and Micb to limit expression of HLA-I, HLA-II, and natural killer cell activating ligands in hPSCs. (bvsalud.org)

Upon transplantation in immunodeficient mice, grafted cells form vascularized islet-like structures containing MAFA/C-peptide-positive cells. (bvsalud.org)

In utero gene therapy is an alternative approach that facilitates vector transduction of rapidly expanding populations of target cells while avoiding immune recognition of the vector. (ox.ac.uk)
To understand this variation and to exploit it as a target for therapy, it is important to identify genes or other factors that contribute to this variation. (nih.gov)
This is an intriguing possibility since identification of a suppressor gene could lead to new targets for therapy. (nih.gov)

Although several important genes of iron transport have been identified in recent years, there may be others not yet discovered that impact on the expression of hemochromatosis. (nih.gov)

We replicated these studies using an identical CFTR-expressing adenoviral vector and CF mouse strain in sufficiently large numbers to provide robust Kaplan-Meier survival data. (ox.ac.uk)

A strain of mice widely studied as a model for cystic fibrosis. (nih.gov)

Modifier genes may contribute to the variable age of onset seen in this disease. (nih.gov)

Our results reveal a role of CFTR in glucose-induced electrical activities and insulin secretion in β-cells, shed light on the pathogenesis of CFRD and possibly other idiopathic diabetes, and present a potential treatment strategy. (nih.gov)

The set represents ~36,000 full length genes and EST clusters derived from sequence clusters in Build 74 of the Mouse Unigene Database. (nih.gov)

These cells and versions expressing human orthologs of immune evasion factors can be used to refine tissue- and cell type-specific immune barriers, and to conduct preclinical testing in immunocompetent mouse models. (bvsalud.org)

Dominant" means that a single copy of the mutated gene (from one parent) is enough to cause the disorder. (genome.gov)
By contrast, an autosomal dominant disorder requires only a single copy of the mutated gene from one parent to cause the disorder. (genome.gov)

Program (EBP), the environmental arm of the recently- announced Genes and Environment Initiative (GEI). (nih.gov)

As a result, all mice have one copy of this altered gene in all their tissues. (nih.gov)

In this instance, the state of the organism's environment will provide selection, with a net effect either favoring or working in opposition to the gene, until an environmentally determined equilibrium is reached. (wikipedia.org)

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Organisms4

Diseases12

Chemicals and Drugs17

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