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Mutation of Celsr1 Disrupts Planar Polarity of Inner Ear Hair Cells and Causes Severe Neural Tube Defects in the Mouse
We identified two novel mouse mutants with abnormal head-shaking behavior and neural tube defects during the course of independent ENU mutagenesis experiments. The heterozygous and homozygous mutantsExpand
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Imprinted expression of the murine Angelman syndrome gene, Ube3a, in hippocampal and Purkinje neurons
Angelman syndrome (AS) is a human genetic disorder characterized by mental retardation, seizures, inappropriate laughter, abnormal gait, tremor and ataxia1–3. There is strong genetic evidence thatExpand
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A β-Defensin Mutation Causes Black Coat Color in Domestic Dogs
Genetic analysis of mammalian color variation has provided fundamental insight into human biology and disease. In most vertebrates, two key genes, Agouti and Melanocortin 1 receptor (Mc1r), encode aExpand
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Differential activity of maternally and paternally derived chromosome regions in mice
Although both parental sexes contribute equivalent genetic information to the zygote, in mammals this information is not necessarily functionally equivalent. Diploid parthenotes possessing twoExpand
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Epigenetic analysis of the Dlk1-Gtl2 imprinted domain on mouse chromosome 12: implications for imprinting control from comparison with Igf2-H19.
Dlk1 and Gtl2 are reciprocally imprinted genes located 80 kb apart on mouse chromosome 12. Similarities between this domain and that of the well characterized Igf2-H19 locus have been previouslyExpand
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Gonadotrophin-releasing hormone deficiency in a mutant mouse with hypogonadism
FAMILIAL hypogonadism in man, due to an isolated deficiency of gonadotrophin secretion, has been well documented1–6, but difficult to investigate because of the lack of a suitable animal model4. WeExpand
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Parental-origin-specific epigenetic modification of the mouse H19 gene
THE H19 gene produces an abundant developmentally regulated transcript of unknown function in normal embryos1. In the mouse it lies on chromosome 7 and is subject to transcriptional regulation byExpand
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Embryological and molecular investigations of parental imprinting on mouse chromosome 7
MOUSE embryos with duplications of whole maternal (partheno-genetic and gynogenetic) or paternal (androgenetic) genomes show reciprocal phenotypes and do not develop to term1,2. GeneticExpand
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A candidate mouse model for Prader–Willi syndrome which shows an absence of Snrpn expression
The best examples of imprinting in humans are provided by the Angelman and Prader–Willi syndromes (AS and PWS) which are associated with maternal and paternal 15q11–13 deletions, respectively, andExpand
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Molecular genetic characterization of six recessive viable alleles of the mouse agouti locus.
The agouti locus on mouse chromosome 2 encodes a secreted cysteine-rich protein of 131 amino acids that acts as a molecular switch to instruct the melanocyte to make either yellow pigmentExpand
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