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Generation of the Sotos syndrome deletion in mice.

Haploinsufficiency of the human 5q35 region spanning the NSD1 gene results in a rare genomic disorder known as Sotos syndrome (Sotos), with patients displaying a variety of clinical features, including pre- and postnatal overgrowth, intellectual disability, and urinary/renal abnormalities. We used chromosome engineering to generate a segmental monosomy, i.e., mice carrying a heterozygous 1.5-Mb deletion of 36 genes on mouse chromosome 13 (4732471D19Rik-B4galt7), syntenic with 5q35.2-q35.3 in humans (Df(13)Ms2Dja ( +/- ) mice). Surprisingly Df(13)Ms2Dja ( +/- ) mice were significantly smaller for their gestational age and also showed decreased postnatal growth, in contrast to Sotos patients. Df(13)Ms2Dja ( +/- ) mice did, however, display deficits in long-term memory retention and dilation of the pelvicalyceal system, which in part may model the learning difficulties and renal abnormalities observed in Sotos patients. Thus, haploinsufficiency of genes within the mouse 4732471D19Rik-B4galt7 deletion interval play important roles in growth, memory retention, and the development of the renal pelvicalyceal system.

Pubmed ID: 22926222 RIS Download

Mesh terms: Absorptiometry, Photon | Animals | Blotting, Southern | Body Weights and Measures | Chromosome Deletion | Chromosomes, Human, Pair 5 | Comparative Genomic Hybridization | DNA Primers | Disease Models, Animal | Gene Targeting | Growth and Development | Haploinsufficiency | Histological Techniques | Humans | In Situ Hybridization, Fluorescence | Kidney | Memory Disorders | Mice | Sotos Syndrome

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Associated grants

  • Agency: Cancer Research UK, Id: 13031
  • Agency: Cancer Research UK, Id:
  • Agency: Wellcome Trust, Id:

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An integrated data resource for mouse genetic, genomic, and biological information. MGD includes a variety of data, ranging from gene characterization and genomic structures, to orthologous relationships between mouse genes and those of other mammalian species, to maps (genetic, cytogenetic, physical), to descriptions of mutant phenotypes, to characteristics of inbred strains, to information about biological reagents such as clones and primers. Data are accessed via search/retrieval Web forms and displayed as tables, text, and graphical maps, with supporting primary data. A rich set of hypertext links is provided, such as those from gene and clone information to DNA and protein sequence databases (GenBank, EMBL, DDBJ, SWISS-PROT), from bibliographic data to PubMed, from phenotypes to OMIM (Online Mendelian Inheritance in Man), and from gene homology records to the genomic databases of other species. MGD's data integration process places disparate data in contextual relationship, bringing together information from electronic downloads, the mouse Chromosome Committees, submissions from individual researchers, and actively curated data from the published literature. MGD encourages community participation via contributions of data and the development of consensus representations of the mouse genome. The resource's electronic bulletin boards are maintained to facilitate communication and collaboration among interested scientists. These Bulletin Boards provide a forum for community discussions and an excellent communication vehicle for MGD news. For more on the Mouse Genome Database follow the link, http://www.informatics.jax.org/mgihome/projects/overview.shtml.

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