ArticleProceedings of the National Academy of Sciences of the United States of America2000
Normal cardiovascular development in mice deficient for 16 genes in 550 kb of the velocardiofacial/DiGeorge syndrome region.
Article in Proceedings of the National Academy of Sciences of the United States of America, 2000. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers.
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Who cites it
18 citing papers in PubMed, 68 citations in OpenAlex.
- Molecular Insights Into the Causes of Human Thymic Hypoplasia With Animal Models.Frontiers in immunology · 2020Review
- The Genetics and Epigenetics of 22q11.2 Deletion Syndrome.Frontiers in genetics · 2019Review
- Continuous performance test impairment in a 22q11.2 microdeletion mouse model: improvement by amphetamine.Translational psychiatry · 2018Article
- A Synaptic Function Approach to Investigating Complex Psychiatric Diseases.The Neuroscientist : a review journal bringing neurobiology, neurology and psychiatry · 2014Review
- Mouse models of aneuploidy.TheScientificWorldJournal · 2012Review
- The 22q11.2 microdeletion: fifteen years of insights into the genetic and neural complexity of psychiatric disorders.International journal of developmental neuroscience : the official journal of the International Society for Developmental Neuroscience · 2011Review
- Annual Research Review: Transgenic mouse models of childhood-onset psychiatric disorders.Journal of child psychology and psychiatry, and allied disciplines · 2011Review
- Controlled somatic and germline copy number variation in the mouse model.Current genomics · 2010Article
- Inducing segmental aneuploid mosaicism in the mouse through targeted asymmetric sister chromatid event of recombination.Genetics · 2008Article
- Targeted deletion of Tssk1 and 2 causes male infertility due to haploinsufficiency.Developmental biology · 2008Article
- Behavior of mice with mutations in the conserved region deleted in velocardiofacial/DiGeorge syndrome.Neurogenetics · 2006Article
- Modeling chromosomes in mouse to explore the function of genes, genomic disorders, and chromosomal organization.PLoS genetics · 2006Review
- Mouse chromosome engineering for modeling human disease.Annual review of genomics and human genetics · 2006Review
- Long-range chromosomal engineering is more efficient in vitro than in vivo.Transgenic research · 2005Article
- Decreased embryonic retinoic acid synthesis results in a DiGeorge syndrome phenotype in newborn mice.Proceedings of the National Academy of Sciences of the United States of America · 2003Article
- An Fgf8 mouse mutant phenocopies human 22q11 deletion syndrome.Development (Cambridge, England) · 2002Article
- Requirement of CDC45 for postimplantation mouse development.Molecular and cellular biology · 2001Article
- Building a heart: implications for congenital heart disease.Journal of nuclear cardiology : official publication of the American Society of Nuclear CardiologyReview
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Authors and funding
10 authors at 2 institutions in 1 country.
Funding
Abstract
Hemizygous interstitial deletions in human chromosome 22q11 are associated with velocardiofacial syndrome and DiGeorge syndrome and lead to multiple congenital abnormalities, including cardiovascular defects. The gene(s) responsible for these disorders is thought to reside in a 1.5-Mb region of 22q11 in which 27 genes have been identified. We have used Cre-mediated recombination of LoxP sites in embryonic stem cells and mice to generate a 550-kb deletion encompassing 16 of these genes in the corresponding region on mouse chromosome 16. Mice heterozygous for this deletion are normal and do not exhibit cardiovascular abnormalities. Because mice with a larger deletion on mouse chromosome 16 do have heart defects, the results allow us to exclude these 16 genes as being solely, or in combination among themselves, responsible for the cardiovascular abnormalities in velocardiofacial/DiGeorge syndrome. We also generated mice with a duplication of the 16 genes that may help dissect the genetic basis of "cat eye" and derivative 22 syndromes that are characterized by extra copies of portions of 22q11, including these 16 genes. We also describe a strategy for selecting cell lines with defined chromosomal rearrangements. The method is based on reconstitution of a dominant selection marker after Cre-mediated recombination of LoxP sites. Therefore it should be widely applicable to many cell lines.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.