ArticleMammalian genome : official journal of the International Mammalian Genome Society2012
Generation of the Sotos syndrome deletion in mice.
Article in Mammalian genome : official journal of the International Mammalian Genome Society, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers.
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Who cites it
8 citing papers in PubMed, 15 citations in OpenAlex.
- A mouse model of Weaver syndrome displays overgrowth and excess osteogenesis reversible with KDM6A/6B inhibition.JCI insight · 2024Article
- Proximal variants in CCND2 associated with microcephaly, short stature, and developmental delay: A case series and review of inverse brain growth phenotypes.American journal of medical genetics. Part A · 2021Review
- Drosophila NSD deletion induces developmental anomalies similar to those seen in Sotos syndrome 1 patients.Genes & genomics · 2021Article
- H3K36 methyltransferase NSD1 regulates chondrocyte differentiation for skeletal development and fracture repair.Bone research · 2021Article
- Impaired Regulation of Histone Methylation and Acetylation Underlies Specific Neurodevelopmental Disorders.Frontiers in genetics · 2020Review
- The Role of Nuclear Receptor-Binding SET Domain Family Histone Lysine Methyltransferases in Cancer.Cold Spring Harbor perspectives in medicine · 2017Review
- Histone methyltransferases: novel targets for tumor and developmental defects.American journal of translational research · 2015Review
- The influence of disease categories on gene candidate predictions from model organism phenotypes.Journal of biomedical semantics · 2014Article
Corrections and comments
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Authors and funding
12 authors at 3 institutions in 2 countries.
Funding
Abstract
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.
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