Global ETD Search
Search theses and dissertations gathered from participating repositories worldwide. Every result links back to the library that holds it. No account is needed.
Results
Showing 1 to 20 of 26 for “"knockin"”.
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The Impact of Impaired Cyclooxygenase-2 Activity on Mouse Brain Development: A Focus on Sex Differences
… drugs. Using cyclooxygenase-2 (COX-2) knockin and COX-2 knockout mice, genetic models which mimic exposure to antipyretic drugs, impaired COX-2 activity was found to induce sex-dependent changes in the expression of various neuroimmune markers in the brain during development. Further …
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Mutation of SLC7A14 Causes Syndromic Hearing Loss
… in auditory functions were examined in knockin mice with the missense mutation SLC7A14-p.(Gly330Arg). ABR thresholds, but not DPOAE thresholds, were elevated in the knockin mice at 3.5 months. Additionally, RP patients with the homozygous SLC7A14-p.(Gly330Arg) missense mutation exhibited …
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Regulation and Function of Apoer2 and Vidlr in the Central Nervous and Reproductive Systems
… during Reelin signaling, the generation of knockin mutant animals has allowed us to begin to uncover the unique and independent functions of these receptors that have not yet been explored. For example, a single amino acid mutation in Vldlr determines binding of the Pafah1b complex to the …
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Deciphering the Pathogenesis of Acute Myeloid Leukemia
… AML are not fully understood. To address this, knockin mouse strains harboring different Cebpa mutations and Flt3-ITD were used to generate an AML mouse model. This model demonstrated a block at the transition from pGMP to GMP due to disrupted C/EBPα function. The cooperative effect of FLT3-ITD …
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Applications of genome editing for disease modeling in mice
… in vivo in mice. First, we create a Cas9 knockin mouse and demonstrate its utility for in vivo and ex vivo genome editing experiments. Then, we leverage the Cas9 knockin mouse and viral-mediated delivery of guide RNA to model lung adenocarcinoma to obtain pathology consistent with …
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Charakterisierung von KCNQ-Kaliumkanälen und ihren Beta-Untereinheiten
… Haarzellen von KCNQ4-Knockout-Mäusen bzw. Knockin-Tieren mit einer dominant-negativen Mutation in diesem Gen charakterisiert.
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Why do allelic variants of the mitochondrial chaperone SCO1 cause clinically heterogeneous forms of disease? A mouse model and proximity ligation study
… created and phenotyped three whole body Sco1 knockin mouse models harbouring one or two alleles of the murine equivalent of the pathogenic SCO1 P174L, SCO1 G132S and SCO1 M294V alleles, and characterized the wild-type and mutant SCO1 interactomes in a human cell culture model to identify …
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Erzeugung und Charakterisierung von Mausmodellen mit lichtsensitivem Geschmackssystem zur Aufklärung der neuronalen Geschmackskodierung
… die Funktionalität dieser angestrebten Knockout-Knockin-Modelle zu evaluieren, die eine Kopplung von Opsinen mit dem geschmacksspezifischen G-Protein Gustducin voraussetzte, wurden Oozyten vom Krallenfrosch Xenopus laevis mit dem Zwei-Elektroden-Spannungsklemm-Verfahren hinsichtlich dieser …
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The regulation and function of Forkhead box O transcription factors FOXO1 and FOXO3 in T and iNKT lymphocytes
… control lymphocyte functions. We use two novel knockin mouse lines developed by the Cantrell laboratory that contain LoxP flanked Foxo1-GFP and Foxo3-GFP reporter genes in the endogenous loci. This gave us the unique opportunity to accurately quantify and compare FOXO1 and FOXO3 expression and …
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Smooth muscle titin in embryo implantation and angiogenesis
… im glatten Muskel zu untersuchen, haben wir ein Knockin-Mausmodell etabliert, in dem der Amino-Terminus von Titin mit Hilfe des Fluoreszenzprotein DsRed markiert wurde. Die Analyse von quergestreiftem Muskel der Titin-DsRed-Mäuse bestätigte die DsRed-Integration in Titin am Übergang von der …
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Mitochondrial Dysfunction: A Mechanistic Link in the Progression from Normal Aging to Sporadic Alzheimer’s Disease
… expressing non-mutant humanized Aβ [humanized Aβ knockin (hAβ KI) mice, also referred to as a model of late-onset AD in previous literature], we identified concurrent synaptic mitochondrial deficiencies and intra-mitochondrial Aβ42 accumulation with age. Furthermore, compared to global cerebral …
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Defining Ankyrin-b Syndrome: Characterization of Ankyrin-b Variants in Mice and Men and the Discovery of a Role for Ankyrin-b in Parasympathetic Control of Insulin Release
… and Hispanics. Finally, we have generated knockin mice corresponding to the R1788W and L1622I mutations. Functional characterization of these animals will allow us to better understand the relationship between human ankyrin-B variants and ankyrin-B syndrome.</p>
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Deficient experience-dependent plasticity in the visual cortex of Arc null mice
… visual cortical plasticity we took advantage of knockin mice expressing GFP in place of Arc protein (referred to as KO mice for simplicity). We combined intrinsic signal imaging, visually evoked potentials, and two-photon in vivo calcium imaging to assess plasticity in juvenile and adult …
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The Role of Wnt Signaling in Bone Mechanotransduction
… and mechanotransduction. I generated an Lrp4 knockin mouse model harboring a missense mutation found among human patients with abnormally high bone mass. I hypothesize that the mutation compromises sclerostin action on bone cells. Understanding how each of these components of the Wnt signaling …
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Splicing The Clock Is Timeless: From Fruit Fly Behavior To Mammalian Retinal Degeneration
… this hypothesis and demonstrate that a Prpf8 knockin mutation lengthens circadian wheel-running behavior and dampens the diurnal rhythm in select transcripts of the mouse retina. We explore the relevance of these findings in the context of RP pathology, in particular asking whether clock …
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Technology development in mouse genetics and epigenetics
… the methods to make transgenic mice and gene knockin and knockouts have been successful, they are very inefficient, labor intensive and costly. Therefore, in this thesis we developed a novel methodology to rapidly and efficiently modify the mouse genome. Using CRISPR/Cas9, a novel …
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Low-Density Lipoprotein Receptors in Signaling Modulation and Development
… cellular signaling pathways. / The use of knockin mutant mice has, for the first time, implicated the extracellular domains of LRP1b and LRP4 in signaling modulation in development. While the complete knockout of either receptor is embryonically lethal, the expression of a truncated …
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Generation and Analysis of Gene-Targeted Mouse Models for Oppenheim's Early-Onset Dyt1 Dystonia
… we made two gene-targeted mouse models: a knockin Dyt1 DeltaGAG (KI) to mimic the mutation found in DYT1 dystonic patients and a knockdown with reduced expression of Dyt1 (KD). KI mice exhibited deficient performance on the beam-walking test, a measure of fine motor coordination and …
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Mitochondrial Dysfunction and Stress Responses in CHCHD10 Myopathy and Neurodegeneration
… this dissertation I generate and characterise a knockin mouse model of the CHCHD10 p.G58R mutation, which in humans causes a mitochondrial myopathy and cardiomyopathy. The G58R mouse recapitulates the human phenotype, developing a severe myopathy from birth and a cardiomyopathy later in life. I …
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Investigation of genetic PIK3CA activation in genome-edited human pluripotent stem cells
… of a CRISPR/Cas9 protocol for efficient knockin of different PIK3CA variants into human iPSCs. An isogenic iPSC series was established with cells expressing either wild-type PIK3CA or PIK3CA-H1047R, knocked into either one or both endogenous alleles. In parallel, mosaic patient- derived …
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