نتایج جستجو برای: knockout
تعداد نتایج: 35497 فیلتر نتایج به سال:
The G protein-coupled receptor Gpr54 and its ligand metastin (derived from the Kiss1 gene product kisspeptin) are key gatekeepers of sexual maturation. Gpr54 knockout mice demonstrate hypogonadotropic hypogonadism, but until recently, the phenotype of Kiss1 knockout mice was unknown. This report describes the reproductive phenotypes of mice carrying targeted deletions of Kiss1 or Gpr54 on the s...
Non–insulin-dependent diabetes mellitus (NIDDM) is considered a polygenic disorder in which insulin resistance and insulin secretory defect are the major etiologic factors. Homozygous mice with insulin receptor substrate-1 (IRS-1) gene knockout showed normal glucose tolerance associated with insulin resistance and compensatory hyperinsulinemia. Heterozygous mice with b cell glucokinase (GK) gen...
A line of transgenic mice was isolated in which transgene integration had caused a deletion in the gene encoding monoamine oxidase A, an enzyme that degrades serotonin and norepinephrine. This has provided an animal model of MAOA deficiency in humans, a condition characterized by borderline mental retardation and impulsive aggression. Received 13 June 1999 ; Reviewed 14 June 1999 ; Accepted 16 ...
To the Editor: In a recent issue of Circulation, Hoorntje et al1 presented data on a family with a duplication in exon 4 of HERG. A consanguineous marriage resulted in 2 homozygous offspring: one died before birth and the other had a severe cardiac phenotype characterized by arrhythmias and conduction defects. The importance of these findings regarding the role of HERG in the heart is clear. Th...
Fragile X syndrome (FXS) is the most common form of inherited mental retardation. The syndrome results from the absence of the fragile X mental retardation protein (FMRP), which is encoded by the fragile X mental retardation 1 (FMR1) gene. FMR1 and its two paralogs, fragile X-related genes 1 and 2 (FXR1 and -2), form the Fmr1 gene family. Here, we examined long-lasting synaptic plasticity in Fm...
Abstract Proper development of the mammalian cerebral cortex relies on precise gene expression regulation, which is controlled by genetic, epigenetic, and epitranscriptomic factors. Here we generate RNA demethylase Fto methyltransferase Mettl3 cortical-specific conditional knockout mice, detect severe brain defects caused deletion but not knockout. Transcriptomic profiles using sequencing indic...
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