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Mutation of Celsr1 Disrupts Planar Polarity of Inner Ear Hair Cells and Causes Severe Neural Tube Defects in the Mouse
View on Elsevier
A β-Defensin Mutation Causes Black Coat Color in Domestic Dogs
TLDR
The functional role of β-defensins is expanded, a protein family previously implicated in innate immunity, and an additional class of ligands for signaling through melanocortin receptors is identified, and its protein product binds with high affinity to the Mc1r.
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Imprinted expression of the murine Angelman syndrome gene, Ube3a, in hippocampal and Purkinje neurons
TLDR
The major phenotypic features of AS correlate with the loss of maternal-specific expression of Ube3a in hippocampus and cerebellum as revealed in the mouse model.
View on Nature
Differential activity of maternally and paternally derived chromosome regions in mice
TLDR
It is reported that animals with maternal duplication/paternal deficiency and its reciprocal for each of two particular chromosome regions show anomalous phenotypes which depart from normal in opposite directions, suggesting a differential functioning of gene loci within these regions.
View on Nature
Stem cell factor is encoded at the SI locus of the mouse and is the ligand for the c-kit tyrosine kinase receptor
View on Elsevier
Epigenetic analysis of the Dlk1-Gtl2 imprinted domain on mouse chromosome 12: implications for imprinting control from comparison with Igf2-H19.
TLDR
A detailed methylation analysis is described of the Dlk1-Gtl2 domain, a reciprocally imprinted genes located 80 kb apart on mouse chromosome 12, which has both unique and common features compared to those identified in the Igf2-H19 domain.
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Gonadotrophin-releasing hormone deficiency in a mutant mouse with hypogonadism
TLDR
The genetic and endocrinological background of a mutant strain of mouse in which the testes and ovaries fail to develop postnatally is reported, which should prove useful for studying the synthesis of hypothalamic releasing hormones as well as the role of the hypothalamic–gonadotrophin system in sexual differentiation, puberty, folliculogenesis and spermatogenesis.
View on Springer
Parental-origin-specific epigenetic modification of the mouse H19 gene
TLDR
It is shown that specific sites in the CpG island promoter and 5′ portion of the gene are methylated only on the paternal allele, and active maternal alleles in chromatin of MatDi7 embryos are more sensitive and accessible to nucleases, therefore hypermethylation and chromatin compaction in the region of the H19 promoter is associated with repression of the paternally inherited copy of the genes.
View on Nature
Molecular genetic characterization of six recessive viable alleles of the mouse agouti locus.
TLDR
Short and long-range restriction enzyme analyses of homozygous a 18H DNA are consistent with the hypothesis that a18H results from a paracentric inversion where one end of the inversion maps in the 5' regulatory region of agouti and the other end in or near a gene that is required for normal immunological function.
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Mapping the murine Xce locus with (CA)n repeats
TLDR
In the standard Xceb typing strain JU/Ct, the two microsatellites most closely flanking Xist fail to carry the allelic forms expected if Xist and Xce are synonymous, and alternative explanations for this finding are presented.
View on Springer
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