• Phenotypic and genotypic characterization of the ENU-induced mutant mouse line HST001 for use in nephrological research A dominant mutation was established in the line HST001 within the Munich ENU mouse mutagenesis project. (uni-muenchen.de)
  • Heterozygous (sp/wt) mice carry only one copy of the nude mutation and have hair. (taconic.com)
  • A minimum of four (4) mutant mice, heterozygous for the selected mutation on a mixed 129S5;B6 background. (taconic.com)
  • Here, we present a cystic kidney phenotype in mice carrying a novel missense mutation in SAMD9L , a gene that has previously been implicated in congenital autoinflammatory disorders and pediatric myelodysplastic syndrome. (asn-online.org)
  • We've found that Tsk2/+ mice bring a deleterious gain-of-function missense mutation for the reason that exchanges a cysteine for serine within the N-terminal propeptide PIIINP. (sciencepop.org)
  • Outcomes Linkage and sequencing research reveal a SNP mutation BMS-345541 HCl in BMS-345541 HCl Col3a1 Id from the gene was initiated with additional mapping from the period by genotyping backcross progeny of Tsk2/+ mice bred to C57Bl/6 (B6) mice. (sciencepop.org)
  • Mice with a targeted mutation in the thyroid hormone beta receptor gene exhibit impaired growth and resistance to thyroid hormone. (jax.org)
  • Another mouse strain (missense mutation (T>G foundation substitution in exon 16) that changes a highly conserved valine to glycine at residue 674 [34]. (gasyblog.com)
  • Heterozygous mutation of Trp53 decreases p53 and results in attenuated apoptosis and G1-S checkpoint control, allowing Brca1Delta11/Delta11 cells to proliferate. (nih.gov)
  • We previously characterized "knock-in" mice heterozygous for this mutation (p.W2711X), and have now investigated homozygous mice using protein and mRNA expression analyses, mass spectrometry, and extensive immunolocalization and ultrastructural studies. (omicsdi.org)
  • Our data indicate, for the first time, a requirement for MAPK signaling in the developing XY gonad in order to facilitate normal expression of SRY and the downstream testis-determining genes and also suggest that reduced dosage of MAP3K4 may be the cause of a previously described autosomal sex-reversing mutation in the mouse. (plos.org)
  • The non-agouti mutation in C57BL/6 strains is due to an 11.8 Kbp retrotransposon located in the first intron of the agouti gene that abolishes the expression of the Agouti gene. (umassmed.edu)
  • The cone-enriched apoptotic protease caspase-7 ( Casp7 ) is thought to be triggered by endoplasmic reticulum (ER) stress and plays a pivotal role in mice deficient in the cone cyclic nucleotide-gated channels, a deficiency that causes achromatopsia in humans and in mice with autosomal dominant rhodopsin mutations, in particular the T17M mutation. (molvis.org)
  • Casp7 knockout mice were crossed to two different RP mouse models with significantly different rod and cone death kinetics: the rd1 mouse model, which carries a mutation in the Pde6b gene, and the rhodopsin knockout mouse model ( Rho-KO or Rho -/- ). (molvis.org)
  • However, the crucial prediction that a disease-associated PrP mutation can spontaneously generate infectivity has only been demonstrated in mice carrying the mutation D177N, the mouse equivalent of the mutation associated with human FFI ( 16 ). (cdc.gov)
  • To elucidate differences in the functions of these two proteins, comprehensive survival studies with Xpa −/− , Xpc −/− and wild-type control female mice in a pure C57BL/6J background were done. (aacrjournals.org)
  • The chimeric mice are bred to C57BL/6J albino mice to generate F1 heterozygous animals. (mmrrc.org)
  • On rare occasions, for example when very few F1 mice are obtained from the chimera, F1 heterozygous mice are crossed to 129/SvEvBrd x C57BL/6 hybrid mice to yield additional heterozygous animals for the intercross to generate the F2 mice. (mmrrc.org)
  • N1 were then mated again to C57BL/6NCrl breeders, to generate N2 mice, identified by PCR and/or sequencing. (mmrrc.org)
  • Alterations of their tumorigenic phenotypes including survival rate, tumor formation and tumor spectrum, were assessed in FVB/N-Trp53 em2Hwl /Korl and C57BL/6-Trp53 em1Hwl /Korl knockout (KO) mice over 16 weeks. (biomedcentral.com)
  • Furthermore, numerous solid tumors were also observed in various regions of the surface skin of FVB/N-Trp53 em2Hwl /Korl KO mice, but were not detected in C57BL/6-Trp53 em1Hwl /Korl KO mice. (biomedcentral.com)
  • Our results indicate that the spectrum and incidence of tumors induced by the TALEN-mediated Trp53 mutant gene is greater in FVB/N-Trp53 em2Hwl /Korl KO mice than C57BL/6-Trp53 em1Hwl /Korl KO mice over 16 weeks. (biomedcentral.com)
  • The first Trp53 KO mice were generated by the recombination of intron 4 and exon 5 in C57BL/6 mice using embryonic stem cell (ESC) targeting techniques. (biomedcentral.com)
  • Similar tumors were also observed in KO mice having the exon 2 or exon 2-6 deletion in C57BL/6 mice. (biomedcentral.com)
  • This study was therefore undertaken to compared the tumorigenic phenotypes of FVB/N-Trp53 em2Hwl /Korl and C57BL/6-Trp53 em1Hwl /Korl KO mice encompassing the TALEN-mediated Trp53 mutant gene (Fig. 1 ). (biomedcentral.com)
  • Furthermore, 129-strain ES cells often contribute to the germline of the chimeras, and when breeding chimeras with C57BL/6 test mice, the dominant agouti color in offspring signifying germline transmission is also easily detected in the G1 generation litters. (umassmed.edu)
  • However, the resulting targeted G1 mice are of a mixed 129 x C57BL/6 genetic background. (umassmed.edu)
  • Depending upon the study, these mice often have to be backcrossed 9 more generations with C57BL/6 mice to place the mutant allele on an inbred C57BL/6 background. (umassmed.edu)
  • Recently, researchers from the Sanger Institute (UK) have isolated stable and germline competent embryonic stem (ES) cells from C57BL/6N mice (1). (umassmed.edu)
  • These ES cells allow for the generation of gene‐targeted mice on a C57BL/6 genetic background without the need for multiple backcrossing of mice. (umassmed.edu)
  • To generate suitable C57BL/6 embryonic stem cells for gene targeting experiments, the Sanger team established a male cell line (JM8) from the N-substrain of C57BL/6 mice. (umassmed.edu)
  • When these C57BL/6N-based JM8 cells were injected into blastocysts from albino mice, a high proportion of chimeras displayed ES cell contribution to both germline and somatic tissues. (umassmed.edu)
  • However, a disadvantage of this combination is that a slightly mixed C57BL/6 genetic background (C57BL/6N x C57BL/6J) is produced when breeding the resulting chimeras with C57BL/6J Tyrc-Brd albino mice to test for germline transmission in the G1 generation. (umassmed.edu)
  • Of course, one could breed the chimeras with inbred C57BL/6N mice to maintain a pure C57BL/6N substrain background- but then one could not use coat color in the G1 generation to identify germline-transmitting chimeras, as all the offspring would be of a black coat color regardless of germline transmission. (umassmed.edu)
  • The Sanger group performed gene targeting in the JM8 ES cells to delete the retrotransposon from the agouti locus and restore agouti gene function, permitting the visualization of ES cell-derived mice on an inbred C57BL/6 background by agouti coat color. (umassmed.edu)
  • Since these JM8A3 cells are heterozygous for the corrected agouti allele [A tm1brd ], crossing the resulting brown-on-white chimeras with C57BL/6N test mice yield embryonic stem cell-derived offspring with either agouti or black coats. (umassmed.edu)
  • The UMass Chan Transgenic Animal Modeling Core (TAMC) also has JM8-strain ES cells for targeting, and routinely injects either JM8.F6-strain ES cells or JM8.A3-strain ES cells into albino C57BL/6J Tyrc-Brd blastocysts. (umassmed.edu)
  • Here, we used myeloperoxidase knockout B6.129X1-MPO (MPO k/o) mice and showed that oxidation and clearance of single walled carbon nanotubes (SWCNT) from the lungs of these animals after pharyngeal aspiration was markedly less effective whereas the inflammatory response was more robust than in wild-type C57Bl/6 mice. (cdc.gov)
  • To identify functional categories overrepresented in the differentially expressed genes, we used integrated gene-network analysis, gene ontology enrichment and mouse phenotype ontology analysis. (biomedcentral.com)
  • 7 Technology and Development Team for Mouse Phenotype Analysis: Japan Mouse Clinic, RIKEN BioResource Center, Tsukuba, Japan. (jci.org)
  • It characterises in detail the phenotype of mice with conditional loss of Ta3 in the central nervous system using the Nestin-Cre deleter strain. (bath.ac.uk)
  • While heterozygous mice exhibited a renal-restricted phenotype inherited in an autosomal dominant fashion, homozygous mutants exhibited perinatal lethality due to vascular anomalies and hypoxia. (asn-online.org)
  • The phenotype of the L1 mutant mouse indicates that it is a potentially valuable model for the human CRASH syndrome. (jneurosci.org)
  • This antibody blocks RAGE signaling in vitro and in vivo, recapitulating the phenotype of Ager AHA/AHA mice. (elifesciences.org)
  • The knock-out strain phenotype is an important control group to make sure that the humanized STX1A is rescuing some of the innate functionality of the homologous gene. (invivobiosystems.com)
  • However, mice expressing either Mll -PTD or Flt3 -ITD do not develop AML, suggesting that 2 mutations are necessary for the AML phenotype. (ashpublications.org)
  • In this study, we analyzed the phenotype of transgenic mice expressing mutant 113L bovine prion protein (BoPrP) and the ability of these mice to generate de novo infectious prions in comparison with control mice expressing the wild-type protein. (cdc.gov)
  • Transgenic mice carrying an Nrl-EGFP allele and homozygous for either knock-out of rhodopsin (Nrl-EGFP, Rho-/-) or heterozygous for knock-in of P23H mutant rhodopsin (Nrl-EGFP, RhoP23H/+) were used in this study. (ox.ac.uk)
  • Mice homozygous for the Thrb tm1Syc allele were mated to EIIa-Cre transgenic mice to generate mice that carry a germline deletion of the neomycin resistance gene. (jax.org)
  • RT-PCR studies of liver and brown adipocytes from mice homozygous for the final allele indicate that the mutant allele is expressed at the RNA level in expected T3 target tissues. (jax.org)
  • However, most female Brca1Delta11/Delta11 Trp53+/- mice develop mammary tumors with loss of the remaining Trp53 allele within 6-12 months. (nih.gov)
  • The 'knockout-first' (KO-first) allele overcomes the limitations of constitutively-expressed mutations, flexibly producing reporter knockouts, conditional knockouts, and null alleles through exposure to site-specific cyclization recombination (Cre) and flippase (FLP) recombinases - such as in crosses to FLP and cre mice. (cyagen.com)
  • The KO-first allele design also forms the basis for generation of lacZ-tagged conditional alleles as part of the International Knockout Mouse Consortium (IKMC) effort organized by the International Mouse Phenotyping Consortium (IMPC). (cyagen.com)
  • Targeted or gene trap mutations are generated in strain 129/SvEvBrd-derived embryonic stem (ES) cells. (mmrrc.org)
  • Accordingly, Rad51b-c.92delT variant reduced replication fork progression of patient-derived lymphoblastoid cell lines and pluripotent reprogramming efficiency of primary mouse embryonic fibroblasts. (nature.com)
  • We identified a mouse mutant that causes embryonic gonadal sex reversal: the development of ovaries in an XY embryo. (plos.org)
  • An ENU mutagenesis library was screened for renal phenotypes and mutant mouse strains were established via backcrossing. (asn-online.org)
  • We subsequently identified 17 additional individuals with 12 unique heterozygous variants in POLR1A and observed numerous additional phenotypes including neurodevelopmental abnormalities and structural cardiac defects, in combination with highly prevalent craniofacial anomalies and variable limb defects. (bvsalud.org)
  • Most of these mice showed similar phenotypes as an effective result of the null alleles. (biomedcentral.com)
  • Here, we identified in two different DYT1 mouse strains, heterozygous torsinA knockout mice (Tor1a+/-) and human ΔGAG mutant torsinA transgenic mice (hMT), the anatomical abnormalities in the cerebellum, during a critical age for synaptogenesis (postnatal day 14, P14). (foundationdystoniaresearch.org)
  • We generated transgenic mice expressing bovine cellular prion protein (PrP C ) with a leucine substitution at codon 113 ( 113L ). (cdc.gov)
  • Several transgenic mouse models confirmed that PrP C with mutations induces a spectrum of neurologic diseases with clinical or histologic features of TSEs ( 12 - 15 ). (cdc.gov)
  • Spontaneous appearance of infectivity has also been reported in transgenic mice expressing a mouse PrP C with 2 point mutations (170N and 174T) that subtly affect the structure of its globular domain ( 17 ). (cdc.gov)
  • Xpc −/− mice displayed a significant increase in lung tumors and a trend toward increased liver tumors compared with Xpa -deficient or wild-type mice. (aacrjournals.org)
  • Additionally, Xpc -deficient mice exhibited a strong increase in mutant frequency in lung compared with Xpa −/− mice, whereas in both models mutant frequency is increased in liver. (aacrjournals.org)
  • two Duox2-deficient mouse models have been described to date. (gasyblog.com)
  • Here, we sought to elucidate the underlying mechanism(s) using mice deficient in the Brca1 exon 11 isoform (Brca1Delta11/Delta11). (nih.gov)
  • Moreover, in addition to its acute effects on circuit function, work in other disease models has shown that ketamine also rapidly stimulates dendritic growth, BDNF levels, and expression of key synaptic proteins [ 5 , 6 ], at least in part through activation of mTOR signaling, which is deficient in Mecp2 mutants [ 7 ]. (pharmather.com)
  • Cerebellar and hippocampal tissue samples from three En2 -/- and wild type (WT) littermate mice were assessed for differential gene expression using microarray hybridization followed by RankProd analysis. (biomedcentral.com)
  • The targeted mouse gene is Pdgfc (platelet-derived growth factor, C polypeptide), the ortholog of human PDGFC. (mmrrc.org)
  • The autosomal recessive nude gene in homozygous (sp/sp) mice causes the lack of fur and an abnormal thymus. (taconic.com)
  • Exon 1 ENSMUSE00000468303 and flanking splicing regions were constitutively deleted from the Bloc1s4 gene ENSMUSG00000060708 using CRISPR Cas9 gene editing technology in mouse zygotes. (mmrrc.org)
  • To further explore variant-specific effects in vivo, we used CRISPR-Cas9 gene editing to recapitulate two human variants in mice. (bvsalud.org)
  • Tsk2/+ mice possess many top features of individual disease including tight-skin dysregulated dermal extracellular matrix (ECM) deposition and proof an autoimmune response (Christner gene. (sciencepop.org)
  • Another SNP was also within an intron of mRNA within the Tsk2/+ mice (Supplementary Fig. 1) indicating that SNP will not transformation mRNA splicing and its own gene appearance in skin is certainly unchanged (Fig. 2). (sciencepop.org)
  • Body 2 may be the just period gene portrayed at high amounts in your skin of Tsk2/+ mice. (sciencepop.org)
  • Desk 1 Nucleotide adjustments between Tsk2/+ mice and 101/H or B6 mice We computed the Reads per Kilobase per Mil mapped reads for every gene and discovered that from the genes within the decreased genomic period shows the best absolute appearance level with all the genes displaying negligible expression amounts. (sciencepop.org)
  • This study was undertaken to compare the sensitivities of mice strains during tumor induction by transcription activator-like effector nucleases (TALEN)-mediated Trp53 mutant gene. (biomedcentral.com)
  • Numerous Trp53 KO mice containing large deletions of the Trp53 gene have been produced to investigate the role of Trp53 during the developmental process or tumor formation in mammals. (biomedcentral.com)
  • In conditional knockout mice, a gene is inactivated in a specific tissue to study the function of individual genes and model human diseases. (cyagen.com)
  • Although conditional knockout (cKO) mouse models are used in similar applications to KO models, conditional models provide precise control of gene expression to yield greater experimental capabilities. (cyagen.com)
  • By breeding floxed mice with tissue-specific Cre-expressing mice (Cre deleter strain), it is possible to specifically delete the floxed region and inactivate the gene in desired tissues, while the target gene remains functional in all other tissues. (cyagen.com)
  • This mutant, which we called boygirl ( byg ), was shown to contain an early stop codon that disrupts the autosomal gene encoding MAP3K4, a component of the mitogen-activated protein kinase (MAPK) signaling pathway. (plos.org)
  • In their paper, "The microphthalmia-associated transcription factor (Mitf) gene and its role in regulating eye function," García-Llorca et al use the Phoenix MICRON ® IV to examine the outer eye appearance, retinal pigmentation, and retinal vasculature through fluorescein angiography to study several different mouse mutants. (phoenixmicron.com)
  • García-Llorca et al study four Mitf mutant mice strains with normal eye size to examine the more subtle effects that an RPE gene abnormality might cause. (phoenixmicron.com)
  • Through clinical collaboration this project demonstrated a human ciliopathy case of Joubert Syndrome with compound heterozygous mutations in TA3. (bath.ac.uk)
  • To understand the physiological significance of HS-induced RAGE oligomerization in vivo, we generated RAGE knock-in mice ( Ager AHA/AHA ) by introducing point mutations to specifically disrupt HS-RAGE interaction. (elifesciences.org)
  • These observations support the view that a variety of infectious prion strains might spontaneously emerge in hosts displaying random genetic PrP C mutations. (cdc.gov)
  • Regarding TSEs, pathogenic mutations in Prnp are believed to predispose mutant PrP C to convert spontaneously to a pathogenic isoform ( 9 - 11 ). (cdc.gov)
  • For those examinations heterozygous mutant mice were mated to C3H mice and the offspring were divided in the two groups of mutant and wildtype littermates according to the concentration of plasma urea. (uni-muenchen.de)
  • At the age of 4 weeks the body weight of the mutant mice and the wildtype mice showed no difference. (uni-muenchen.de)
  • After 6 weeks the mutant mice grew more slowly leading to a significantly lower body weight compared to the wildtype littermates. (uni-muenchen.de)
  • Beside that they showed lower plasma concentrations of triglycerides and glucose and a lower activity of amylase than the wildtype mice. (uni-muenchen.de)
  • However urea secretion via the kidneys was impaired, since the mutants showed significantly lower urine urea levels compared to the wildtype mice. (uni-muenchen.de)
  • When we screened 39 of our F1 generation, we found only heterozygous (het) or wildtype (WT) animals. (invivobiosystems.com)
  • Here, we show that this is a pathogenic hypomorphic variant in a mouse model. (nature.com)
  • Heterozygous pathogenic variants in POLR1A, which encodes the largest subunit of RNA Polymerase I, were previously identified as the cause of acrofacial dysostosis, Cincinnati-type. (bvsalud.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)
  • In contrast, no change in pyramidal or granule cell number is detected in the hippocampus of Fgf2 −/− mice. (jneurosci.org)
  • the valine→glycine mutant Duox proteins fail to create H2O2 loose their plasma membrane localization pattern and are retained within the endoplasmic reticulum. (gasyblog.com)
  • The phenotypic characterization of the mutant line included the measurement of body and organ weights, food intake and a broad spectrum of clinical chemical and hematological parameters as well as histological investigations of inner organs. (uni-muenchen.de)
  • The mGV of superior retina was significantly greater than that of inferior retina in RhoP23H/+ (P = 0.0024) but not in age-matched Rho+/+ (P = 0.45) or Rho-/- (P = 0.65) mice reflecting histological findings. (ox.ac.uk)
  • Morphological and histological analyses demonstrate that significant defects occur postnatally with mice developing severe ataxia and hydrocephaly. (bath.ac.uk)
  • The most frequently observed tumor in both the Trp53 KO mice was malignant lymphoma, while soft tissue teratomas and hemangiosarcomas were only detected in the FVB/N-Trp53 em2Hwl /Korl KO mice. (biomedcentral.com)
  • Homozygous mice are phenotypically normal. (pkd-rrc.org)
  • Homozygous mice develop congenital hepatic fibrosis. (pkd-rrc.org)
  • Heterozygous mice were mated for simplified colony maintenance since homozygous mice suffer from severe hypothyroidism [34] (http://jaxmice.jax.org/strain/005543.html). (gasyblog.com)
  • These progeny are intercrossed to generate F2 wild type, heterozygous, and homozygous mutant progeny. (mmrrc.org)
  • Histology of thyroid glands of wild-type, Thrb tm1.1Syc /Thrb + and Thrb tm1.1Syc /Thrb tm1.1Syc mice. (jax.org)
  • Northern analyses of liver, heart, and brain indicate that levels of transcription of both the mutated and wild-type alleles were not significantly different in heterozygous and homozygous mutant mice, and wild-type mice. (jax.org)
  • Finally, we have performed RNA-seq analysis of neutrophils and lungs and found that while Ager −/− mice had a broad alteration of transcriptome in both tissues compared to wild-type mice, the changes of transcriptome in Ager AHA/AHA mice were much more restricted. (elifesciences.org)
  • This genetic disease was transmitted by intracerebral inoculation of brain homogenate from ill mice expressing mutant bovine PrP to mice expressing wild-type bovine PrP, which indicated de novo generation of infectious prions. (cdc.gov)
  • Level I phenotypic analysis is performed on mice from this generation. (mmrrc.org)
  • Here we use detailed phenotypic resources available for the mouse and deep genomics sequencing data from human populations to characterize patterns of genetic variation and mutational burden in a set of 2,472 human orthologs of known essential genes in the mouse. (prolekarniky.cz)
  • Bulk and scRNAseq of mutant kidneys revealed differential expression of several hundred genes, but not genes previously implicated in inherited cystic kidney disease. (asn-online.org)
  • In homozygous mutants, there was marked differential expression of genes involved in the unfolded protein response, c-Myc sigaling, and fatty acid oxidation. (asn-online.org)
  • Congenital hypothyroid mice with disruptions in both DuoxA maturation element genes described recently lack functional forms of both Duox enzymes [33]. (gasyblog.com)
  • Rad51b c.92delT/c.92delT mice exhibited meiotic DNA repair defects due to RAD51 and HSF2BP/BMRE1 accumulation in the chromosome axes leading to a reduction in the number of crossovers. (nature.com)
  • Ta3fl/fl;NesCre mutant mice exhibit defects in the proliferation, organisation, morphology and migration of both neuronal and glial cells. (bath.ac.uk)
  • Cardiac malformations, adrenal agenesis, neural crest defects and exencephaly in mice lacking Cited2, a new Tfap2 co-activator. (infrafrontier.eu)
  • The deficiency in T cell function allows athymic mice to accept and grow xenografts as well as allografts of normal and malignant tissues. (taconic.com)
  • At 15 to 25 weeks of age, the homozygote variants of these mice were found to be dramatically susceptible to the development of multiple tumor types, and malignant lymphoma and sarcomas were frequently observed in the thymus and major visceral organs of these animals [ 9 ]. (biomedcentral.com)
  • This knock-in mouse model has a triple HA tag at the C-terminal tail of PKHD1 and produces a fully functional fibrocystin protein. (pkd-rrc.org)
  • They further validate the idea that this knock-in mouse, which preserves expression and binding of RAGE, may be a valuable model for studying this important molecule in disease pathogenesis. (elifesciences.org)
  • But you can easily identify the germline transmitting chimeras by the presence of agouti coat colors in the G1 generation, and performing tail biopsies and genotyping any offspring from that proven chimera will subsequently identify germ-line transmitted mice. (umassmed.edu)
  • While pups homozygous for the insertion are born at slightly lower frequency than heterozygous pups, homozygotes appeared to develop normally and were fertile. (genecopoeia.com)
  • The histopathological investigation of the kidneys did not reveal any alterations, which could to explain the pathological increase of the plasma urea concentration in the mutant mice. (uni-muenchen.de)
  • A mutant with cystic kidneys was identified. (asn-online.org)
  • On the genetic background of the inbred strain C3H heterozygous mutant mice showed a pathological increase of the plasma urea concentration. (uni-muenchen.de)
  • We here used mouse C2C12 myoblast, which were differentiated into myotubes, followed by electrical pulse stimulation (EPS) to generate contracting myotubes comprising mature Z-discs. (omicsdi.org)
  • We moved ahead with confidence that we would be able to generate a homozygous null mutant. (invivobiosystems.com)
  • In addition, these ES cells are the foundation for two large-scale knockout mouse programs designed to provide targeted BL/6 ES cells to the scientific community (EUCOMM and KOMP). (umassmed.edu)
  • The mutant mice had significantly higher plasma concentrations of urea and total protein as well as a higher activity of the alkaline phosphatase. (uni-muenchen.de)
  • We display that valine→glycine Duox mutant enzymes are retained in the ER where the V674G hDuox2 mutant remains inside a complex with its Duox activator protein. (gasyblog.com)
  • smoke, there was little mRNA despite robust COX-2 protein expression, a finding that correlates with almost exclusive cytoplasmic HuR within the lungs of mice. (cancerhugs.com)
  • Despite this increase in mRNA, there is little COX-2 protein expression [4], suggesting that the AhR suppress Mouse monoclonal to FGR COX-2 protein by post-transcriptional regulatory mechanisms. (cancerhugs.com)
  • Here we report a role for the phylogenetically ancient mitogen-activated protein kinase (MAPK) signalling pathway in mouse sex determination. (plos.org)
  • Expression analysis of mutant XY gonads at the same stage also reveals a dramatic reduction in Sox9 and, crucially, Sry at the transcript and protein levels. (plos.org)
  • This unexpected finding suggests that by preserving the expression of RAGE protein (in a dominant-negative form), Ager AHA/AHA mouse might represent a cleaner genetic model to study physiological roles of RAGE in vivo compared to Ager −/− mice. (elifesciences.org)
  • and 4) Expression of a protein from a particular species, such as mice, in an orthologous organism such as humans. (genecopoeia.com)
  • The majority of the homozygous mutant mice exhibited retinal depigmentation spots in the fundus test. (mmrrc.org)
  • However, the Phoenix MICRON ® IV fundus images revealed that heterozygous Mitf mi - vga9 /+ had discrete yellow lesions with normal vasculature while homozygous Mitf mi - enu22 ( 398 ) had large unpigmented lesions with irregular borders and hyperfluorescent areas in fluorescein angiography, though normal capillaries (Fig 2). (phoenixmicron.com)
  • The fundus pigmentation and retinal vasculature differences among the various Mitf mutants. (phoenixmicron.com)
  • To unravel recurrent ASD-related neuropathological mechanisms, we took advantage of the En2 -/- mouse model and performed transcriptome profiling on cerebellar and hippocampal adult tissues. (biomedcentral.com)
  • 1997). They found that one particular strain of mice-named ROSAβgeo26-expressed β galactosidase from a randomly inserted transgene at high levels uniformly in nearly all tissues examined. (genecopoeia.com)
  • Here we describe a novel technique for the in vivo visualisation of rod photoreceptors which permits semiquantitative assessment of outer retinal degeneration, and validate this approach in two mouse models of retinitis pigmentosa (RP). (ox.ac.uk)
  • The other two mutants had much more dysfunction: no ERG responses with widespread retinal degeneration. (phoenixmicron.com)
  • Strikingly, Xpa −/− and Xpc −/− mice also showed a phenotypical difference in terms of tumor spectrum. (aacrjournals.org)
  • For most lines, the mouse ES cells used in generating the model are of the 129S5 strain. (taconic.com)
  • The heterozygous Mitf mi - vga9 /+ and homozygous Mitf mi - enu22 ( 398 ) had normal eye size, normal ERG responses, and mostly normal histology. (phoenixmicron.com)
  • Animals used as models for schizophrenia include rats, mice, and primates. (wikipedia.org)
  • Dynamic in vivo quantification of rod photoreceptor degeneration using fluorescent reporter mouse models of retinitis pigmentosa. (ox.ac.uk)
  • A license from third party patent owner(s) may be required for for-profit entities to use mouse models derived from CRISPR-Cas9 technologies and it is the Users sole responsibility to determine whether such a license is necessary. (mmrrc.org)
  • Cerebellar synaptogenesis is compromised in mouse models of DYT1 dystonia. (foundationdystoniaresearch.org)
  • Our TurboKnockout ® service can provide you with knockout and conditional knockout (flox) mouse models in as fast as 6-8 months. (cyagen.com)
  • This paper explores the role of heparan sulfate in the oligomerization of RAGE and the role of oligomerization in vivo function using mouse knockout models. (elifesciences.org)
  • Thus, we tested in two mouse models of RP whether the cone-enriched Casp7 plays a role during secondary cone death. (molvis.org)
  • Loss of Casp7 did not alter cone survival in either of the two mouse models tested regardless of the time point analyzed. (molvis.org)
  • Moreover, myeloperoxidase (MPO), an abundant enzyme of inflammatory cells (neutrophils), - involved in the principal defense mechanisms of innate immunity -was also effective in oxidative biodegradation of CNT in biochemical models and in cells yielding the products that did not cause pulmonary inflammation in mice [14] . (cdc.gov)
  • We report here that the Fgf2 null mutant mice show an ∼40% decrease in cortical glutamatergic pyramidal neurons. (jneurosci.org)
  • The NIH Animal Genetic Resource received the B6 Nude Spontaneous mutant model in 1980. (taconic.com)
  • The four strains, with coat pigmentation and outer eye appearance shown in Figure 1, are: heterozygous Mitf mi - vga9 /+ , homozygous Mitf mi - enu22 ( 398 ) , heterozygous Mitf - Mi - Wh /+ , and Mitf Mi - Wh / Mitf mi . (phoenixmicron.com)
  • The Phoenix MICRON ® IV images showed that the heterozygous Mitf - Mi - Wh /+ had hypopigmented retinas with large lack of pigmentation and reduced capillaries while the Mitf Mi - Wh / Mitf mi had eye dilation problems and a widespread lack of pigmentation in the retina (Fig 2). (phoenixmicron.com)
  • Additionally, spatiotemporal requirements for Polr1a in developmental lineages contributing to congenital anomalies in affected individuals were examined via conditional mutagenesis in neural crest cells (face and heart), the second heart field (cardiac outflow tract and right ventricle), and forebrain precursors in mice. (bvsalud.org)
  • Of note, these alterations were rescued and in part over-compensated in the adult age in both mouse strains, suggesting that torsinA dysfunction can induce an altered maturation of cerebellar synaptic contacts. (foundationdystoniaresearch.org)
  • In this Application Note, we discuss the benefits and drawbacks of such integration, the use of a "Safe Harbor" for transgene integration in mice and humans, and a demonstration of the ability of the GeneCopoeia genome editing tools for Human AAVS1 and Mouse Rosa26 Safe Harbor to integrate transgenes at a "safe" genomic site. (genecopoeia.com)
  • Relevant of mutagenicity and clastogenici- angiosarcomas of the liver, which carcinogens discussed in this chap- ty, including the induction of sister are rare tumours, were identified in ter do not include pharmaceutical chromatid exchange (SCE), chro- humans, rats, and mice exposed to drugs classified in Group 1, which mosomal aberrations (CA), and mi- vinyl chloride. (who.int)
  • or each of these agents, carcinogenicity in rats and/or mice, els, differences in exposure con- there was sufficient evidence of car- for example for the liver (aflatoxins, ditions between studies in animals cinogenicity from studies in rats and/ trichloroethylene [TCE], and vinyl and in humans, or limitations in Part 1 · Chapter 1. (who.int)
  • The genetic model of DR - the eat-2 mutant - has a decreased pumping rate, thus ingesting less bacteria, and requires the FoxA transcription factor PHA-4 [ 8 ] and the dimethoxy ubiquinone hydroxylase CLK-1 [ 9 ] to extend its lifespan. (biomedcentral.com)
  • Chronic administration of ketamine was also found to improve symptoms and extend lifespan in null male Mecp2 mutants [ 2 ]. (pharmather.com)
  • Regarding the relative organ weights the mutant mice showed significantly higher values for the spleen and the brain. (uni-muenchen.de)
  • Heterozygous nudes were originally thought to have normal immune systems, but in fact have immune alterations such as reduced bone marrow stem cells and lower thymus weights. (taconic.com)
  • RT-PCR analysis revealed that the transcript was absent in the homozygous mutant mice. (mmrrc.org)
  • In heterozygous mutants, a similar but attenuated transcript signature was seen in differentiated nephron progenitors and mature epithelial clusters. (asn-online.org)
  • This mouse model lacks PKHD1 exon 67. (pkd-rrc.org)
  • A recent mouse model has been designed to conditionally target the highly conserved coiled-coil domain of Ta3 using the Cre/loxP system. (bath.ac.uk)
  • This presents the Ta3fl/fl;NesCre mutant mice as a valuable model system to study a rare but clinically relevant condition. (bath.ac.uk)
  • We have previously reported a mouse model in which Brca1 exon 11 is eliminated in mammary epithelial cells through Cre-mediated excision. (nih.gov)
  • The KO-first strategy has implications for functional genomics and proteomics across many model systems, including mouse, rat, and human pluripotent stem cells - serving as a functional genomics platform enabling systematic, genome-scale programs for proteomic mapping. (cyagen.com)
  • Despite the limited number of animals used in the study, our bioinformatic analysis indicates the En2 -/- mouse is a valuable tool for investigating molecular alterations related to ASD. (biomedcentral.com)
  • The use of a tamoxifen inducible strain allows the timely recombination of Ta3 to study its role in a controlled environment. (bath.ac.uk)
  • For conditional knockouts, it may be possible for Cyagen to breed founders directly to your tissue-specific Cre mice or even develop the Cre strains necessary for your study. (cyagen.com)
  • The therapeutic potential of ketamine for treating Rett syndrome was first demonstrated by Dr. David M. Katz, Professor Emeritus, Department of Neurosciences, School of Medicine at CWRU, and colleagues, who found that treatment of heterozygous female Mecp2 mutant mice with a subanesthetic dose of ketamine (8 mg/kg) acutely reversed abnormalities in Fos expression and sensorimotor function [ 1 ]. (pharmather.com)
  • Immunohistochemical staining of Duox2 in murine salivary gland ducts showed Duox2 in mutant mice looses its condensed apical plasma membrane localization pattern characteristic of crazy type Duox2 and accumulates in punctate vesicular constructions within cells. (gasyblog.com)
  • Materials and Methods Animals Duox2 mutant mice were purchased from your Jackson Laboratories. (gasyblog.com)