Large-scale objective association of mouse phenotypes with human symptoms through structural variation identified in patients with developmental disorders.

Journal article

Copy number variants (CNVs) are thought to underlie many human developmental abnormalities. However, it is unclear how many of these CNVs exert their pathogenic effects or, in particular, how distinct CNVs at dispersed loci can give rise to the same abnormality. We hypothesize that the mouse orthologs of genes whose copy number change gives rise to the same human abnormality might also yield a similar phenotype when disrupted in mice. Thus, by bringing together a large number of disparate CNV...

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Authors: Boulding, H; Webber, C

• Publication status: Published
• Journal: Human mutation
• Volume: 33
• Issue: 5
• Pages: 874-883
• Publication date: 2012-05-01
• DOI: 10.1002/humu.22069
• EISSN: 1098-1004
• ISSN: 1059-7794
• Language: English
• Keywords: Growth Disorders; DNA Copy Number Variations; Disease Models, Animal; Genetic Association Studies; Phenotype; Humans; Epistasis, Genetic; Mice; Genetic Pleiotropy; Congenital Abnormalities; Animals