Engineering a broken heart
Article Abstract:
It is possible to use the comparative human-mouse genome maps and chromosome-engineering technology to model the DiGeorge syndrome, the most common deletion syndrome in humans, in mice. This model will make it possible to analyze the embryological basis of the malformations observed and to identify the vital genes. Gene-targeting technology was used to create both a 1.2-Mb deletion and the corresponding duplication of a section of the presumptive DiGeorge syndrome region. It was found that 10% of mice with one deleted and one normal chromosome died at birth, while mice with the duplication appeared normal.
Publication Name: Nature
Subject: Zoology and wildlife conservation
ISSN: 0028-0836
Year: 1999
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Congenital heart disease in mice deficient for the DiGeorge syndrome region
Article Abstract:
It has been possible to identify the pathogenic basis of the most clinically severe element of DiGeorge syndrome, the most common deletion syndrome in humans. Heterozygously deleted mice with cardiovascular abnormalities of the same type as those connected with the band 22q11 are a model of the most significant clinical finding in DiGeorge syndrome. They also offer information about the embryological mechanisms on which congenital heart disease in DiGeorge syndrome patients is based.
Publication Name: Nature
Subject: Zoology and wildlife conservation
ISSN: 0028-0836
Year: 1999
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Tbx1 haploinsufficiency in the DiGeorge syndrome region causes aortic arch defects in mice
Article Abstract:
Research is presented concerning the use of P1 artificial chromosome transgenesis and chromosome engineering to establish the location of the haploinsufficient gene which causes parathyroid, thymus and cardiovascular defects.
Publication Name: Nature
Subject: Zoology and wildlife conservation
ISSN: 0028-0836
Year: 2001
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